Síndrome QT largo congenito

 Abstract in English, Spanish

Congenital long QT syndrome (LQTS) represents a group of heart diseases of genetic origin characterized by prolongation of the QT interval and an abnormal T wave on the electrocardiogram (ECG). They can have a dominant or recessive expression, the latter associated with sensorineural deafness. In both cases, its clinical presentation is associated with recurrent syncope and sudden death as a consequence of ventricular tachycardia, specifically Torsades de Pointes. Currently they are classified according to the specific genetic defect, being able to compromise around 16 genes and almost 2000 mutations. It should be suspected in individuals with related symptoms, electrocardiographic findings, and family history. Management is based on the reduction or elimination of symptoms, and concomitantly the prevention of sudden death (SD), in those children with congenital deafness, the management requires the application of the otolaryngologist specialist's own measures. The cardiovascular management implies the modification of lifestyles, mainly the prohibition of competitive sports, including swimming, avoiding exposure to loud sounds or triggers. The medications used include beta-blockers, and more rarely flecainide, ranozaline, and verapamil; invasive management consists of the implantation of a cardioverter defibrillator or even left sympathetic denervation, each with its own risks and benefits. In any of the cases, we must avoid the circumstances that increase the QT interval, as well as carry out the appropriate analysis of the benefits and risks of each possible invasive measure.

Keywords: Death, Sudden; Long QT Syndrome; Pediatrics; Torsades de Pointes.*1

PubMed Disclaimer

Abstract

Long QT syndrome (LQTS) is a rare cardiac channelopathy associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated with physical and emotional stress. Management of patients with LQTS consists of life-style modification, β-blockers, left cardiac sympathetic denervation (LCSD), and implantable cardioverter-defibrillator (ICD) implantation. Prohibition of competitive exercise and avoidance of QT-prolonging drugs are important issues in life-style modification. Although β-blockers are the primary treatment modality for patients with LQTS, these drugs are not completely effective in some patients. Lifelong ICD implantation in young and active patients is associated with significant complications. LCSD is a relatively simple and highly effective surgical procedure. However, LCSD is rarely used.

Keywords: Adrenergic beta-blocker; Defibrillators, implantable; Long QT syndrome; Sympathectomy.

PubMed Disclaimer

Conflict of interest statement

The authors have no financial conflicts of interest.*2

Abstract

Objectives: This study sought to report our single-center experience with left cardiac sympathetic denervation (LCSD) for long QT syndrome (LQTS) since 1973.

Background: LCSD is still underutilized because clinicians are often uncertain whether to use it versus an implantable cardioverter-defibrillator (ICD).

Methods: We performed LCSD in 125 patients with LQTS (58% women, mean QT interval corrected for frequency [QTc] 527 ± 60 ms, 90% on beta blockers) with a follow-up of 12.9 ± 10.3 years. They were retrospectively divided into 4 groups according to the clinical/genetic status: very high risk (n = 18, symptomatic in the first year of life or with highly malignant genetics), with aborted cardiac arrest (ACA) (n = 31), with syncope and/or ICD shocks on beta blockers (n = 45), in primary prevention (n = 31).

Results: After LCSD, 17% in the very high risk group remained asymptomatic, compared with 52%, 47%, and 97% in the other 3 groups (P < 0.0001), with an overall 86% decrease in the mean yearly cardiac event rate (P < 0.0001). Among 45 patients with only syncope/ICD shocks before LCSD, none had ACA/sudden death as first symptom after LCSD and a 6-month post-LCSD QTc <500 ms predicted excellent outcome. Patients with a QTc ≥500 ms have a 50% chance of shortening it by an average of 60 ms. LCSD results are not affected by common genotypes.

Conclusions: We provide definitive evidence for the long-term efficacy of LCSD in LQTS. The degree of antiarrhythmic protection is influenced by patient's specificity and amount of QTc shortening. This novel approach to the analysis of the outcome allows cardiologists to rationally decide and tailor their management strategies to the individual features of their patients.

Keywords: cardiac sympathetic denervation; genetics; implantable cardioverter-defibrillator; long QT syndrome; sudden death; sympathetic nervous system.

Copyright © 2022 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.*3

Abstract

Long QT syndrome (LQTS) is a potentially life-threatening, but highly treatable genetic heart disease. LQTS-directed therapies often consist of beta-blockers (BBs), left cardiac sympathetic denervation (LCSD), and/or an implantable cardioverter defibrillator (ICD). However, in clinical practice, many patient-specific and genotype-directed permutations exist. Herein, we aim to review the spectrum of treatment configurations utilized at a single, tertiary center specializing in the care of patients with LQTS to demonstrate optimal LQTS-directed management is not amenable to a "one-size-fits-all" approach but instead benefits from patient- and genotype-tailored strategies.

Keywords: Genetic testing; Long QT syndrome; Precision therapy; Sudden cardiac death.

Copyright © 2022 Elsevier Inc. All rights reserved. *4

Abstract in English, Chinese

Objective: To investigate the long-term efficacy and safety of left cardiac sympathetic denervation(LCSD) for long QT syndrome(LQTS) patients with either recurrence on drug therapy intolerance/refusal. Methods: This study was a retrospective cohort study. The cases selected from 193 patients with LQTS who were enrolled in the Chinese Channelopathy Registry Study from November 1999 to November 2012. This study selected 28 LQTS patients with either recurrence on drug therapy intolerance/refusal and underwent LCSD surgery in the Peking University People's Hospital or Beijing Tongren Hospital. The patients were allocated into 3 groups: high-risk group(n=13, baseline QTc ≥550 ms or symptomatic in the first year of life or highly malignant genetics); intermediate-risk group(n=10, 500 ms≤baseline QTc<550 ms, symptomatic after the first year and without highly malignant genetics); low-risk group(n=5, baseline QTc<500 ms, symptomatic after the first year and without highly malignant genetics). LCSD was performed with the traditional supraclavicular approach or video assisted thoracoscopic surgery (VATS). Patients were regularly followed up until 20 years after the surgery. Data were collected before and 1 year after surgery and at the last follow-up. Patients' electrocardiograph(ECG), cardiac events and surgery-related complications were recorded. Kaplan-Meier survival analysis was used to determine the cardiac event-free survival based on different risk stratification and genotypes. Results: A total of 28 LQTS patients, aged 20.5 (15.0, 37.5) and underwent LCSD surgery, were enrolled in this study, including 23(82.1%) women. There were 11(39.3%) patients treated with traditional approach while 17(60.7%) with VATS-LCSD. There were 19(67.9%) patients had positive genetic test results, including 4 LQT1, 12 LQT2, 1 LQT1/LQT2 mixed type, and 2 Jervell-Lange-Nielsen (JLN) syndrome. The median follow-up period was 189.3(138.7, 204.9) months. The dropout rate was 10.7%(3/28) while 3 patients in the intermediate-risk group were lost to follow-up. Horner syndrome occurred in 1 patient (in the high-risk group). Sudden cardiac deaths were observed in 3 (12.0%) patients (all in the high-risk group), and 12 patients (48.0%) had syncope recurrences (2 in low-risk group, 3 in intermediate-risk group and 7 in high-risk group). A significant reduction in the mean yearly episodes of cardiac events was observed, from (3.5±3.3) before LCSD to(0.2±0.1) at one year after LCSD and (0.5±0.8) at last follow up(P<0.001). The mean QTc was shortened from (545.7±51.2)ms before the surgery to (489.0±40.1)ms at the last follow-up (P<0.001). Among the 20 patients with basic QTc ≥500 ms and completing the follow-up, the QTc intervals of 11(55.0%) patients were shortened to below 500 ms. The event free survival rates for any cardiac events after LCSD decreased sequentially in the low-, intermediate- and high-risk groups, and the difference was statistically significant (χ²=7.24, log-rank P=0.026). No difference was found in the event free survival rates among LQT1, LQT2 and undefined gene patients (χ²=5.20, log-rank P>0.05). Conclusions: LCSD surgery can reduce the incidence of cardiac events and shorten the QTc interval in patients with LQTS after the long-term follow-up. LCSD surgery is effective and safe for patients with LQTS ineffective or intolerant to drug therapy. However, high-risk patients are still at a high risk of sudden death after surgery and should be actively monitored and protected by combined therapies.*5

*1Congenital long QT syndrome

[Article in Spanish]

Luis Alfredo Melgar Quicaño et al. Arch Peru Cardiol Cir Cardiovasc. 2021.

*2Management of Patients with Long QT Syndrome

Yongkeun Cho. Korean Circ J. 2016 Nov.

*3Left Cardiac Sympathetic Denervation for Long QT Syndrome: 50 Years' Experience Provides Guidance for Management

Veronica Dusi et al. JACC Clin Electrophysiol. 2022 Mar.

Free article

*4Precision therapy in congenital long QT syndrome

Raquel Neves et al. Trends Cardiovasc Med. 2024 Jan.

*5The long-term efficacy of left cardiac sympathetic denervation in long QT syndrome

[Article in Chinese]

X Li et al. Zhonghua Xin Xue Guan Bing Za Zhi. 2022.

Sindrome aórtico agudo

 Abstract

Acute aortic syndrome embraces a group of heterogenous pathological entities involving the aortic wall with a common clinical profile. The current epidemiology, clinical presentation, diagnosis and treatment strategy are discussed in this review. Besides, the importance of multidisciplinary aortic teams, aortic centers and the implementation of an aortic code are emphasized.

Keywords: Acute aortic syndrome; Aortic code; Aortic dissection; Código aorta; Disección aórtica; Hematoma intramural aórtico; Intramural aortic hematoma; Penetrating aortic ulcer; Síndrome aórtico agudo; Úlcera penetrante aórtica.*1

Abstract

Background: Acute aortic syndromes comprise a spectrum of diseases including aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcers. Early diagnosis, rapid intervention, and multidisciplinary team care are vital to efficiently manage time-sensitive aortic emergencies, mobilize appropriate resources, and optimize clinical outcomes.

Objective: This comprehensive review outlines the multidisciplinary team approach from initial presentation to definitive interventional treatment and post-operative care.

Discussion: Acute aortic syndromes can be life-threatening and require prompt diagnosis and aggressive initiation of blood pressure and pain control to prevent subsequent complications. Early time to diagnosis and intervention are associated with improved outcomes.

Conclusions: A multidisciplinary team can help promptly diagnose and manage aortic syndromes.

Keywords: Aortic dissection; Aortic syndromes; Cardiac surgery; Vascular surgery.*2

Abstract

Acute aortic syndromes are disorders of the thoracic and abdominal aorta that are usually symptomatic and require urgent evaluation and treatment. They include acute aortic dissection, intramural hematoma, and penetrating atherosclerotic ulcer. Knowledge of the natural history of these conditions, prompt diagnosis, and surgical intervention, when indicated, are the keys to successful outcomes.

PubMed Disclaimer

Figures *3

Abstract

Objective: For intramural hematoma and penetrating atherosclerotic ulcer, long-term behavior and treatment are controversial. This study evaluates the long-term behavior of intramural hematoma and penetrating atherosclerotic ulcer, including radiologic follow-up and survival analysis.

Methods: Between 1995 and 2014, 108 patients (mean age, 70.8 ± 10 years; 56% female) presented with intramural hematoma or penetrating atherosclerotic ulcer to Yale-New Haven Hospital (New Haven, Conn). We reviewed the medical records, radiology, and online mortality databases.

Results: Ten of 55 patients (18%) with intramural hematoma and 17 of 53 patients (32%) with penetrating atherosclerotic ulcer had rupture state symptoms on admission, both greater than type A (8%) or type B dissection (4%) (P < .001). No branch vascular occlusion occurred. For patients with intramural hematoma with follow-up imaging, 8 of 14 (57%) worsened (mean follow-up, 9.4 months) and 6 (43%) underwent late surgery. For patients with penetrating atherosclerotic ulcer with follow-up imaging, 6 of 20 (30%) worsened and underwent late surgery, and 11 (55%) showed no change (mean follow-up, 34.3 months). Overall survivals were 77%, 70%, 58%, and 33% at 1, 3, 5, and 10 years, respectively. No operative deaths occurred for patients with nonrupture state. Patients with penetrating atherosclerotic ulcer with initial surgical treatment had better long-term survival than patients treated medically (P = .037). In the intramural hematoma group, no such difference was observed (P = .10).

Conclusions: At presentation, the incidence of early rupture of intramural hematoma and penetrating atherosclerotic ulcer was higher than for typical dissection. For branch vessels, intramural hematoma never occludes branch arteries. On imaging follow-up, patients with intramural hematoma and penetrating atherosclerotic ulcer rarely improved, with late surgery commonly needed. Better survival was observed for the initial surgical management of patients with penetrating atherosclerotic ulcer compared with initial medical management.

Keywords: intramural hematoma; long-term follow-up; penetrating atherosclerotic ulcer.

Copyright © 2016 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

PubMed Disclaimer *4

Abstract

Background: The aim of the study was to analyze aortic-related outcomes after diagnosis of aortic dissection (AD), intramural hematoma (IMH), and penetrating aortic ulcer (PAU) from a population-based approach.

Methods: Retrospective review of an incident cohort of AD, IMH, and PAU patients in Olmsted County, Minnesota from 1995 to 2015. Primary end point was aortic death. Secondary end points were subsequent aortic events (aortic intervention, new dissection, or rupture not present at presentation) and first-time diagnosis of an aortic aneurysm. Outcomes were compared with randomly selected population referents matched for age and sex in a 3:1 ratio using Cox proportional hazards regression adjusting for comorbidities.

Results: Among 133 patients (77 AD, 21 IMH, and 35 PAU), 57% were males, and mean age was 71.8 years (standard deviation, 14). Median follow-up was 10 years. Of 73 deaths among AD/IMH/PAU patients, 23 (32%) were aortic-related. Estimated freedom from aortic death was 84%, 80%, and 77% at 5, 10, and 15 years. There were no aortic deaths among population referents (adjusted hazard ratio [HR] for aortic death in AD/IMH/PAU, 184.7; 95% confidence interval [95% CI], 10.3-3,299.2; P < 0.001). Fifty (38%) AD/IMH/PAU patients had a subsequent aortic event (aortic intervention, new dissection, or rupture), whereas there were 8 (2%) aortic events among population referents (all elective aneurysm repairs; adjusted HR for any aortic event and aortic intervention in AD/IMH/PAU patients, 33.3; 95% CI, 15.3-72.0; P < 0.001 and 31.5; 95% CI, 14.5-68.4; P < 0.001, respectively). After excluding aortic events/interventions ≤14 days of diagnosis, AD/IMH/PAU patients remained at increased risk of any aortic event (adjusted HR, 10.8; 95% CI, 3.9-29.8; P < 0.001) and aortic intervention (adjusted HR, 9.6; 95% CI, 3.4-26.8; P < 0.001). Among those subjects with available follow-up imaging, the risk of first-time diagnosis of aortic aneurysm was significantly increased for AD/IMH/PAU patients when compared with population referents (adjusted HR, 10.9; 95% CI, 5.4-21.7; P < 0.001 and 8.3; 95% CI, 4.1-16.7; P < 0.001 for thoracic and abdominal aneurysms, respectively) and remained increased when excluding aneurysms that formed within 14 days of AD/IMH/PAU (adjusted HR, 6.2; 95% CI, 1.8-21.1; P = 0.004 and 2.8; 95% CI, 1.0-7.6; P = 0.040 for thoracic and abdominal aneurysms, respectively).

Conclusions: AD/IMH/PAU patients have a substantial risk of aortic death, any aortic event, aortic intervention, and first-time diagnosis of aortic aneurysm that persists even when the acute phase (≤14 days after diagnosis) is uncomplicated. Advances in postdiagnosis treatment are necessary to improve the prognosis in these patients.

Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.

PubMed Disclaimer

Figures

*1Acute aortic syndrome

[Article in English, Spanish]

Isidre Vilacosta et al. Med Clin (Barc). 2024.

*2Management of acute aortic syndromes from initial presentation to definitive treatment

Christopher K Mehta et al. Am J Emerg Med. 2022 Jan.

*3Acute Aortic Syndromes: Diagnosis and Treatment

Michael C Murphy et al. Mo Med. 2017 Nov-Dec.

*4Long-term behavior of aortic intramural hematomas and penetrating ulcers

Alan S Chou et al. J Thorac Cardiovasc Surg. 2016 Feb.

*5 Population-Based Assessment of Aortic-Related Outcomes in Aortic Dissection, Intramural Hematoma, and Penetrating Aortic Ulcer

Salome Weiss et al. Ann Vasc Surg. 2020 Nov.

Hipertrigliceridemia y rasgo poligenico

 Familial combined hyperlipidaemia (FCH) is the most prevalent form of familial hyperlipidaemia with a multigenic origin and a complex pattern of inheritance. In this respect, FCH is an oligogenic primary lipid disorder due to interaction of genetic variants and mutations with environmental factors. Patients with FCH are at increased risk of cardiovascular disease and often have other associated metabolic conditions. Despite its relevance in cardiovascular prevention, FCH is frequently underdiagnosed and very often undertreated. In this review, emphasis is placed on the most recent advances in FCH, in order to increase its awareness and ultimately contribute to improving its clinical control.

Keywords: Dislipidemia; Dyslipidaemia; Familial combined hyperlipidaemia; Hipercolesterolemia; Hiperlipemia familiar combinada; Hipertrigliceridemia; Hypercholesterolaemia; Hypertriglyceridaemia. *1

Abstract

Familial combined hyperlipidemia (FCH) is the most frequent genetic dyslipidemia (DLP) with high risk of early atherosclerosis manifestation. It is characterized by elevated both triglycerides 1.5 mmol/l and apolipoprotein B 1.2 g/l (hyper-TG/hyper-ApoB fenotype), with at least two affected family members. Despite the fact that plasmatic levels of total cholesterol and LDL-C are usually lower than in familial hypercholesterolemia and full expression of DLP in FCH occurs in adulthood, risk of premature manifestation of atherosclerosis is similar in both these familial DLP. It is probably due to the presence of other atherogenic lipid and non-lipid risk factors, such as increased levels of triglyceride rich lipoprotein remnants, presence of small dense LDL, reduction of HDL-C, presence of insulin resistance with impaired glucose homeostasis, hepatic steatosis, arterial hypertension, hyperuricemia and presence of increased markers of systemic inflammation. The term "familial" usually implicates a monogenic trait. However, FCH is almost always nonmendelian. According to recent knowledge FCH is mostly polygenic with variable presence of large effect mutations, accumulation of several small-effect polymorphisms and some environmental influences. Therefore, FCH is rather a syndrome with common clinical presentation but multigenic causes. The term "familial combined hyperlipidemia" is embedded in clinical practice and so it is not necessary to abandon it, as it nearly urges to examination of first degree relatives. This might help to identify a great number of risk subjects who deserve appropriate management.Key words: apolipoprotein B - familial combined hyperlipidemia - genetics - insulin resistance - premature atherosclerosis - triglycerides.*2

Abstract

Purpose of review: : Familial combined hyperlipidemia (FCH), defined by concurrently elevated plasma triglyceride (TG) and low-density lipoprotein (LDL) cholesterol, has long been investigated to characterize its genetic basis. Despite almost half a century of searching, a single gene cause for the phenotype has not yet been identified.

Recent findings: : Recent studies using next-generation genetic analytic methods confirm that FCH has a polygenic basis, with a clear large contribution from the accumulation of small-to-moderate effect common single nucleotide polymorphisms (SNPs) throughout the genome that is associated with raising TG, and probably also those raising LDL cholesterol. On the other hand, rare monogenic variants, such as those causing familial hypercholesterolemia, play a negligible role, if any. Genetic profiling suggests that patients with FCH and hypertriglyceridemia share a strong polygenic basis and show a similar profile of multiple TG-raising common SNPs.

Summary: : Recent progress in genomics has shown that most if not all of the genetic susceptibility to FCH is polygenic in nature. Future research should include larger cohort studies, with wider ancestral diversity, ancestry-specific polygenic scores, and investigation of epigenetic and lifestyle factors to help further elucidate the causative agents at play in cases where the genetic etiology remains to be defined.

Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved. *3

Abstract

Purpose of review: Combined hyperlipidemia is the most common lipid disorder and is strongly polygenic. Given its prevalence and associated risk for atherosclerotic cardiovascular disease, this review describes the potential for utilizing polygenic risk scores for risk prediction and management of combined hyperlipidemia.

Recent findings: Different diagnostic criteria have led to inconsistent prevalence estimates and missed diagnoses. Given that individuals with combined hyperlipidemia have risk estimates for incident coronary artery disease similar to individuals with familial hypercholesterolemia, early identification and therapeutic management of those affected is crucial. With diagnostic criteria including traits such apolipoprotein B, low-density lipoprotein cholesterol, and triglyceride, polygenic risk scores for these traits strongly associate with combined hyperlipidemia and could be used in combination for clinical risk prediction models and developing specific treatment plans for patients.

Summary: Polygenic risk scores are effective tools in risk prediction of combined hyperlipidemia, can provide insight into disease pathophysiology, and may be useful in managing and guiding treatment plans for patients. However, efforts to ensure equitable polygenic risk score performance across different genetic ancestry groups is necessary before clinical implementation in order to prevent the exacerbation of racial disparities in the clinic.

Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.

PubMed Disclaimer *4

Abstract

Background and aims: Familial combined hyperlipidemia (FCHL) is one of the most common inherited lipid phenotypes, characterized by elevated plasma concentrations of apolipoprotein B-100 and triglycerides. The genetic inheritance of FCHL remains poorly understood. The goals of this study were to investigate the polygenetic architecture and cardiovascular risk associated with FCHL.

Methods and results: We identified individuals with an FCHL phenotype among 349,222 unrelated participants of European ancestry in the UK Biobank using modified versions of 5 different diagnostic criteria. The prevalence of the FCHL phenotype was 11.44% (n = 39,961), 5.01% (n = 17,485), 1.48% (n = 5,153), 1.10% (n = 3,838), and 0.48% (n = 1,688) according to modified versions of the Consensus Conference, Dutch, Mexico, Brunzell, and Goldstein criteria, respectively. We performed discovery, case-control genome-wide association studies for these different FCHL criteria and identified 175 independent loci associated with FCHL at genome-wide significance. We investigated the association of genetic and clinical risk with FCHL and found that polygenic susceptibility to hypercholesterolemia or hypertriglyceridemia and features of metabolic syndrome were associated with greater prevalence of FCHL. Participants with an FCHL phenotype had a similar risk of incident coronary artery disease compared to participants with monogenic familial hypercholesterolemia (adjusted hazard ratio vs controls [95% confidence interval]: 2.72 [2.31-3.21] and 1.90 [1.30-2.78]).

Conclusions: These results suggest that, rather than being a single genetic entity, the FCHL phenotype represents a polygenic susceptibility to dyslipidemia in combination with metabolic abnormalities. The cardiovascular risk associated with an FCHL phenotype is similar to that of monogenic familial hypercholesterolemia, despite being ∼5x more common.

Keywords: Apolipoprotein B-100; Combined hyperlipidemia; FCHL; Familial hypercholesterolemia; Genome-wide association study; UK Biobank.

Copyright © 2021 Elsevier B.V. All rights reserved.*5

*1Familial combined hyperlipidaemia/polygenic mixed hyperlipidaemia

[Article in English, Spanish]

Juan Pedro-Botet et al. Clin Investig Arterioscler. 2021 May.

*2Familial combined hyperlipidemia - the most common genetic dyslipidemia in population and in patients with premature atherothrombotic cardiovascular disease]

[Article in Czech]

Helena Vaverková et al. Vnitr Lek. 2018 Winter

*3Familial combined hyperlipidemia is a polygenic trait

Praneet K Gill et al. Curr Opin Lipidol. 2022.

*4The clinical utility of polygenic risk scores for combined hyperlipidemia

Jacqueline S Dron. Curr Opin Lipidol. 2023.

*5Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia

Mark Trinder et al. Atherosclerosis. 2022 Jan.

Feocromocitoma

 Abstract

The presentation of pheochromocytoma is quite variable. We report a case of previously undiscovered pheochromocytoma which was manifested by traumatic retroperitoneal hemorrhage. A 79-year-old man fell from his bicycle and was admitted to the emergency room complaining of right flank pain. Enhanced computed tomography (CT) revealed hemorrhage around the right adrenal gland. Since the plasma catecholamine levels were elevated, we suspected the presence of pheochromocytoma. After absorption of the hematoma, the tumor appeared clearly. The diagnosis of pheochromocytoma was confirmed through urine catecholamine testing and 131I-MIBG scintigraphy. Six months after the injury, the tumor was surgically resected. Traumatic hemorrhage of pheochromocytoma is extremely rare; only 3 cases have been reported in the literature.-*1

Abstract

A 35-year-old man was delivered to the emergency room complaining of right flank pain because of blunt abdominal trauma sustained while playing baseball. Enhanced computed tomography (CT) revealed a right adrenal mass and fluid collection around the mass. We diagnosed the mass as pheochromocytoma by endocrinological examination and radioisotopical imaging test. After absorption of the hematoma three months after the injury, laparoscopic right adrenalectomy was performed. He had an uncomplicated postoperative course without supplementation of catecholamine. Pathological findings were compatible with pheochromocytoma. Eight months after the operation, he had no evidence of recurrence.*2

Abstract 

A 55-year-old female presented with subarachnoid hemorrhage and was admitted to the department of neurosurgery. Because she had severe hypertension, systemic evaluation was performed. Computed tomography showed a right adrenal tumor which was suspected to be a pheochromocytoma because catecholamine levels were very high in both serum and 24-hour urine. She did not awaken from anesthesia after laparoscopic adrenalectomy and laboratory tests showed that her blood sugar concentration was 33 mg/dl. This hypoglycemia was controlled by continuous infusion of a 50% glucose solution at 40 ml/h and she became conscious the next morning. We gradually decreased the amount of glucose infused and stopped the infusion on postoperative day 4. The tumor was pathologically diagnosed as a pheochromocytoma.*3

Abstract

A 54-year-old woman was scheduled for resection of pheochromocytoma. Anesthesia was maintained with general anesthesia combined with thoracic epidural anesthesia. The blood glucose decreased to 30 mg x dl(-1) about four hours after⁸ the tumor resection, despite intravenous administration of glucose at a rate of 15 g x hr(-1) with intermittent boluses of 5 g of glucose. The blood glucose levels increased over 100 mg x dl(-1) with intravenous administration of 15 g x hr(-1) glucose, 6 hours after tumor resection.*4

Abstract

A 74-year-old woman underwent radical nephrectomy for an adrenaline predominant pheochromocytoma in the left adrenal gland. She was pretreated with doxazosin for 3 weeks before surgery. Anesthesia was induced with intravenous fentanyl, midazolam and vecuronium, and inhaled sevoflurane in oxygen. A central venous catheter was inserted into the right internal jugular vein and a PiCCO catheter was inserted into the femoral artery for the monitoring of cardiac function and hemodynamics. In addition, continuous monitoring and automatic control of blood glucose were started using STG-22. Target concentration of blood glucose was set at 120-140 mg x dl(-1). Anesthesia was maintained with sevoflurane and remifentanil. Prostaglandin E1, nitroglycerin and dexmedetomidine were infused continuously from the start of surgery, and the systolic blood pressure was kept within 120-160 mmHg. During surgical manipulation around the tumor, there were sudden increases in blood pressure, heart rate and blood glucose concentration. Thus, phentolamine and landiolol were also administered to control blood pressure and heart rate. On the contrary, after the tumor removal, noradrenaline, dobutamine and milrinone were required to maintain blood pressure. The STG-22 worked well to maintain blood glucose concentrations during surgery without any hyper- and hypoglycemic events.*5

*1Pheochromocytoma manifested by traumatic adrenal hemorrhage.Article in Japanese]

Futoshi Sano et al. Hinyokika Kiyo. 2006 Jan.

*2Pheochromocytoma with retroperitoneal hemorrhage after abdominal trauma]

[Article in Japanese]

Takuji Hayashi et al. Hinyokika Kiyo. 2009 Nov

*3Severe hypoglycemia after resection of adrenal pheochromocytoma: a case report]

[Article in Japanese]

Shun Umeda et al. Hinyokika Kiyo. 2009 Mar.

*4Postoperative profound hypoglycemia after resection of adrenaline-predominant pheochromocytoma]

[Article in Japanese]

Tomoaki Yanaru et al. Masui. 2007 Dec.

*5Management of anesthesia with artificial pancreas STG-22 for pheochromocytoma resection]

[Article in Japanese]

Tomoaki Yatabe et al. Masui. 2009 Jan.

Endocarditis infecciosa

 Abstract

Infective endocarditis (IE) remains a rare condition but one with high associated morbidity and mortality. With an ageing population and increasing use of implantable cardiac devices and heart valves, the epidemiology of IE has changed. Early clinical suspicion and a rapid diagnosis are essential to enable the correct treatment pathways to be accessed and to reduce complication and mortality rates. In the current review, we detail the latest guidelines for the evaluation and management of patients with endocarditis and its prevention.

Keywords: Infective endocarditis; antibiotic prophylaxis; diagnosis; endocarditis team; surgical indications.*1

Abstract 

Infective endocarditis (IE) is a life-threatening disease with an increasing incidence despite improved preventive measures. The revision of the European Society of Cardiology (ESC) guidelines on infective endocarditis in 2023 brings significant innovations in prevention, diagnostics, and treatment. Many measures for prophylaxis and prevention have been more clearly defined and given higher recommendation levels. In the diagnostics of IE the use of other imaging modalities besides echocardiography, such as cardiac computed tomography (CT), positron emission tomography (PET)/CT or single photon emission computed tomography (SPECT)/CT with radioactively labeled leukocytes was more strongly emphasized. The diagnostics and treatment of IE associated with a cardiac implantable electronic device (CIED) were also revised. An essential innovation is also the possibility of an outpatient antibiotic treatment for certain patients after initial treatment in hospital. The indications for surgery have also been revised and, in particular, the timing of surgery has been more clearly defined. This article provides an overview of the most important changes.

Keywords: Endocarditis/anti-bacterial agents; Endocarditis/prevention; Endocarditis/surgery; Guidelines; Tomography, X‑ray computed.*2

Abstract

In August 2023 the new European guidelines on the management of infective endocarditis were published by the European Society of Cardiology (ESC). Numerous recommendations were revised and supplemented by new ones. This review article outlines the essential modifications of the current ESC guidelines focusing on the prevention including antibiotic prophylaxis, the role of the endocarditis team, the revision of the diagnostic criteria, the paradigm shift towards oral antibiotic treatment, the timing and the indications for surgical treatment as well as the relevance of infections of cardiovascular implantable electronic devices.

Keywords: European Society of Cardiology; Guidelines; Infective endocarditis.*3

Abstract

Purpose of review: The question of antibiotic prophylaxis and its role in prevention of infective endocarditis (IE) remains controversial, with differing recommendations from international societies. The aim of this review was to compare and contrast current recommendations on antibiotic prophylaxis for IE by the American Heart Association (AHA), the European Society of Cardiology (ESC), and the National Institute for Health and Care Excellence (NICE) and highlight the evidence supporting these recommendations.

Recent findings: International guidelines for administration of antibiotic prophylaxis for prevention of IE are largely unchanged since 2009. Studies on the impact of the more restrictive antibiotic prophylaxis recommendations are conflicting, with several studies suggesting lack of adherence to current guidance from the ESC (2015), NICE (2016), and AHA (2021). The question of antibiotic prophylaxis in patients with IE remains controversial, with differing recommendations from international societies. Despite the change in guidelines more than 15 years ago, lack of adherence to current guidelines persists. Due to the lack of high-quality evidence and the conflicting results from observational studies along with the lack of randomized clinical trials, the question of whether to recommend antibiotic prophylaxis or not in certain patient populations remains unanswered and remains largely based on expert consensus opinion.

Keywords: Antibiotic prophylaxis; Infective endocarditis.*4

Abstract

Background: In 2007, the American Heart Association published updated evidence-based guidelines on the recommended use of antibiotic prophylaxis to prevent viridans group streptococcal (VGS) infective endocarditis (IE) in cardiac patients undergoing invasive procedures. The 2007 guidelines significantly scaled back the underlying conditions for which antibiotic prophylaxis was recommended, leaving only 4 categories thought to confer the highest risk of adverse outcome. The purpose of this update is to examine interval evidence of the acceptance and impact of the 2007 recommendations on VGS IE and, if needed, to make revisions based on this evidence.

Methods and results: A writing group was formed consisting of experts in prevention and treatment of infective endocarditis including members of the American Dental Association, the Infectious Diseases Society of America, and the American Academy of Pediatrics, in addition to the American Heart Association. MEDLINE database searches were done for English language articles on compliance with the recommendations in the 2007 guidelines and the frequency of and morbidity or mortality from VGS IE after publication of the 2007 guidelines. Overall, there was good general awareness of the 2007 guidelines but variable compliance with recommendations. There was no convincing evidence that VGS IE frequency, morbidity, or mortality has increased since 2007.

Conclusions: On the basis of a review of the available evidence, there are no recommended changes to the 2007 VGS IE prevention guidelines. We continue to recommend VGS IE prophylaxis only for categories of patients at highest risk for adverse outcome while emphasizing the critical role of good oral health and regular access to dental care for all. Randomized controlled studies to determine whether antibiotic prophylaxis is effective against VGS IE are needed to further refine recommendations.

Keywords: AHA Scientific Statements; antibiotic prophylaxis; dental care; endocarditis; oral health; viridans streptococci.*5

*1Infective endocarditis: A contemporary update

Ronak Rajani et al. Clin Med (Lond). 2020 Jan.

*2[Update on endocarditis 2024]

[Article in German]

Nils Petri et al. Inn Med (Heidelb). 2024 May.

*3Erratum in

Erratum zu: ESC-Leitlinien 2023 zum Management der Endokarditis.

de Waha S, et al. Herz. 2024. PMID: 

*4Infective Endocarditis Antibiotic Prophylaxis: Review of the Evidence and Guidelines

Mia M Pries-Heje et al. Curr Cardiol Rep. 2023 Dec.

*5 Adapted from: Prevention of Viridans Group Streptococcal Infective Endocarditis: A Scientific Statement From the American Heart Association

Walter R Wilson et al. J Am Dent Assoc. 2021 Nov.

Hipertiroidismo y arritmias cardiacas (bloqueo AV)

 Abstract

Subclinical hyperthyroidism is a difficult entity to diagnose because of silent clinical features and it may be easily underdiagnosed unless it is suspected and thyroid hormone levels are examined. Although atrioventricular (AV) conduction abnormalities such as complete heart block may occasionally be seen in hyperthyroidism, its association with subclinical hyperthyroidism has not been reported previously. We report on a 50-year-old female patient who did not have any systemic or cardiovascular disease or history of drug use that could affect AV conduction and presented with presyncope and complete heart block with narrow QRS complexes. Thyroid function tests showed subclinical hyperthyroidism and an electrophysiological study showed the supra-His level as the site of complete AV block. After initiation of antithyroid treatment (propylthiouracil), the patient's rhythm improved to second-degree AV block on the third day and returned to normal sinus rhythm on the fourth day.*1

Abstract

Background: Hypothyroidism is a reversible cause of atrioventricular (AV) block. Few reports have described reversible AV block caused by hyperthyroidism. However, it is unknown whether patients with AV block are expected to have a benign course after the initiation of appropriate therapy for thyroid dysfunction.

Methods: The study group consisted of patients with II or III degree AV block and bradyarrhythmia (≤40bpm) excluding patients with myocardial infarction, electrolyte abnormalities, digitalis toxicity, and vasovagal syncope. Thyroid dysfunction is diagnosed when thyroid stimulating hormone and thyroxine levels are not in defined normal ranges. AV block was determined by surface electrocardiogram (ECG). The cause and effect relation between AV block and thyroid dysfunction was evaluated.

Results: Of 668 patients, 29 (4.3%) had hypothyroidism (19 overt) and 21 (3.1%) had hyperthyroidism (8 overt). The most frequent ECG finding was complete AV block (27 of 50 patients). Ten patients had bradyarrhythmia and 13 had second-degree AV block. Euthyroid state was achieved in 10 hypothyroidic (34%) and in 7 hyperthyroidic patients (33%) with hormone replacement and antithyroid therapy, respectively, during the follow-up period (≤21 days). Thyroid dysfunction was found to be not related with AV block in 40 patients (80%). However, in 4 of 10 patients with AV block related to thyroid dysfunction the resolution of AV block occurred after the placement of pacemaker (>21 days). Overall, 44 of 50 (88%) patients with AV block in association with thyroid dysfunction were implanted with a permanent pacemaker. Of 6 patients who did not receive a pacemaker, 2 had complete AV block and 4 had bradyarrythmia.

Conclusion: AV block associated with thyroid dysfunction needs great attention regardless of type of the thyroid disease. Patients with II and/or III degree AV block in the setting of thyroid dysfunction almost always need permanent pacemaker insertion even after normalization of thyroid status. *2

Abstract

Hyperthyroidism often causes tachyarrhythmia. Reversible atrioventricular block caused by hyperthyroidism is rare occurrence. Presently described is a case of atrioventricular block due to hyperthyroidism and recovery after antithyroid treatment.

PubMed Disclaimer *3

Abstract

The authors report the case of a 26-year old male patient who had Graves' disease with a first degree atrioventricular block (AVB) and intermittent episodes of a second degree AVB of the Lucciani-Wenckebach type. These disorders of conduction had features characteristic of a nodal block and disappeared after treatment of the hyperthyroidism. The pathogenesis of atrioventricular conduction disorders in hyperthyroidism remains controverted. The authors put forward the following hypothesis: under the influence of thyroid hormones in excessive amounts, the autonomic nervous system would act by reciprocal excitation and exacerbate a patent or latent hypervagotonia which was pre-existent to the hyperthyroidism. This hypothesis needs to be tested by intracardiac electrophysiological studies with atrial stimulation.*4

Abstract

Complete heart block developed in a 29-year-old man with hyperthyroidism and acute febrile illness. The definite cause of acute febrile illness was unknown. The results of bacteriological and viral studies were negative. Endomyocardial biopsy revealed no evidence of carditis which is the common cause of heart block. All the abnormalities resolved completely after the fever subsided and the patient was treated with an antithyroid drug. Available information indicates that a high degree of heart block can sometimes occur in hyperthyroidism in either the presence or absence of additional factors which can independently impair atrioventricular conduction. This course of events which occurred in this patient suggest that complete heartblock may have been the direct manifestation of the hyperthyroid state, however, the acute febrile illness may have been an aggravating factor in the development of abnormal atrioventricular conduction.*5

PubMed Disclaimer*5

*1 Supra-His complete atrioventricular block in a patient with subclinical hyperthyroidism]

[Article in Turkish]

Basri Amasyalı et al. Turk Kardiyol Dern Ars. 2011 Dec.

*2Atrioventricular block in patients with thyroid dysfunction: prognosis after treatment with hormone supplementation or antithyroid medication

Kazim Serhan Ozcan et al. J Cardiol. 2012 Oct.

*3 Reversible first-degree atrioventricular block due to hyperthyroidism]

*4Hyperthyroidism and atrioventricular block. Pathogenic hypothesis. Apropos of a case and review of the literature]

[Article in French]

F Toloune et al. Arch Mal Coeur Vaiss. 1988 Sep

*5Complete heart block complicating hyperthyroidism: a case report

S Sriussadaporn et al. J Med Assoc Thai. 1990 Jan.

Enfermedad del nódulo sinusal y tratamiento

 Abstract

Introduction and objectives: Since physiological pacing systems have become available, a debate has raged about the merits of atrial versus ventricular pacing in the sick sinus syndrome. The goal of this retrospective report was to study the long term incidence and the independent predictors for atrial fibrillation and stroke in 153 paced patients with sick sinus syndrome, adjusting for differences in baseline clinical variables with multivariate analysis.

Method and results: From 1980 to 1994, we implanted 32 dualchamber, 33 atrial, and 88 ventricular pacemakers to treat patients with sick sinus syndrome. After a maximum follow-up of 177 months (median 30 months for paroxismal atrial fibrillation, 45 months for chronic atrial fibrillation and 43,5 months for stroke) the actuarial incidence of paroximal atrial fibrillation was 7.8% at 1 year, 29% at 5 years and 42% at 10 years. The actuarial incidence of chronic atrial fibrillation was 1.3% at 1 year, 9.8% at 5 years and 22% at 10 years. Independent predictors for paroxismal AF from Cox's model was history of atrial tachyarrhythmias (p < 0.0001), chronic obstructive pulmonary disease (p = 0,006) and age (> 70 years-old) (p = 0.035). Only a history of atrial tachyarrhythmias before pacemaker implant was an independent predictor for chronic atrial fibrillation (p < 0.0001). The odd ratio for paroxismal atrial fibrillation in patients with previous atrial tachyarrhythmias and chronic atrial fibrillation were 6 (2.8-12) and 4 (1.6-9.7) (95% confiance limits). Actuarial incidence of stroke was 3% at 1 year, 10% at 5 years and 14% at 10 years. Independent predictors for stroke were history of peripheral vascular disease (p = 0.033) and hypertensive cardiomyopathy (p = 0.015). Development of paroxysmal and chronic atrial fibrillation during the follow-up were higher in patients with stroke (p < 0.001 and p < 0.05).

Conclusions: Development of atrial fibrillation and stroke in paced patients with sick sinus syndrome are strongly determined by clinical variables. Preimplant paroxysmal atrial tachyarrhythmias is the most important predictor for atrial fibrillation in the follow-up.*1

Abstract

Several studies reported that the annual incidence of stroke in patients with sick sinus syndrome ranges from 6 to 10% while the incidence of stroke in patients with atrial fibrillation is about 2-4% and about 0.1% in the normal population. We evaluated the prevalence of cerebral ischemia and peripheral embolism and investigated the predictor factors in a population of 80 patients paced for sick sinus syndrome. The implanted pacemakers were 40 ventricular and 40 physiological stimulation mode was based on the physicians judgement. All patients had cerebral computed tomography scan at the time of implant and after 24 months. Statistical analysis included log-rank test and actuarial curve calculated with Mantel-Haenszel method. At the end of follow-up the end-point occurred in 15 patients: 2 patients had asymptomatic cerebral infarction, 2 had fatal stroke, 2 developed peripheral embolysm, 1 to the lower limb and 1 abdominal; in 4 patients a transient ischemic attack occurred, in 2 a minor stroke and in 3 a non invalidant stroke. No statistically significant difference was found among the subgroups; with different pacing modality. In conclusion, multivariate analysis underlines the role of age > 65 years, history of cerebral ischemia, low atrial ejection force and spontaneous echo contrast in the development of embolic episodes.*2

Abstract

Sinus node disease (SND), a common indication to implant a pacemaker, is frequently associated with atrial fibrillation (AF), either at implantation (paroxysmal AF) or during follow-up, which often evolves to persistent or permanent AF. Pacemakers with an atrial lead allow continuous monitoring of the atrial rhythm and enable detection of the burden of AF. Asymptomatic atrial tachyarrhythmias, being associated with increased risk of stroke, have important prognostic implications, and their detection could guide decision-making about antithrombotic prophylaxis. Pacing mode and pacing algorithms can influence the occurrence of AF and atrial tachyarrhythmias. In DDD/DDDR pacing mode, reduction of unnecessary right ventricular pacing positively affects the occurrence and evolution of AF, but patients with a history of atrial tachyarrhythmias maintain an increased risk of arrhythmic events. In the MINERVA study, the use of algorithms that act in the atrium for preventive pacing and atrial antitachycardia pacing while minimizing right ventricular pacing was beneficial in patients with SND and previous atrial tachyarrhythmias, and was associated with a significant reduction in evolution to permanent AF. New information available on therapies delivered at the atrial level by implanted devices suggests clinical advantages that could improve current guidelines for the management of AF and atrial tachyarrhythmias.*3

Abstract

Purpose of review: The goal of this paper is to review present knowledge regarding preventive and antitachycardia pacing algorithms, aimed to reduce atrial fibrillation (AF) burden in patients when pacing is indicated.

Recent findings: Reactive antitachycardia pacing (ATP), the new generation of ATP, is significantly associated with a reduced risk of AF. In patients with indication for pacing and history of AF, pacemakers endowed with atrial preventive pacing and atrial ATP combined with managed ventricular pacing proved superior to standard dual-chamber pacing. Managed ventricular pacing is an algorithm that minimizes unnecessary right ventricular pacing. Progression to persistent AF is prevented by ventricular pacing minimization in patients with normal PR interval. The synergistic effect of pacemakers that combine atrial preventive pacing with reactive ATP and with algorithms that minimize ventricular pacing can reduce AF incidence and decrease the combined endpoint of permanent AF, hospital admissions, and mortality.

Keywords: Antitachycardia pacing; Atrial fibrillation; Atrial pacing therapies; Pacing minimization algorithms. *4

Abstract

Background: Atrial fibrillation (AF) is a frequent comorbidity in patients with pacemaker and is a recognized cause of mortality, morbidity, and quality-of-life impairment. The international MINimizE Right Ventricular pacing to prevent Atrial fibrillation and heart failure trial established that atrial preventive pacing and atrial antitachycardia pacing (DDDRP) in combination with managed ventricular pacing (MVP) reduce permanent AF occurrence in comparison with standard dual-chamber pacing (DDDR).

Objective: We aimed to determine the role of new-generation atrial antitachycardia pacing (Reactive ATP) in preventing AF disease progression.

Methods: Patients with dual-chamber pacemaker and with previous atrial tachyarrhythmias were randomly assigned to DDDR (n = 385 (33%)), MVP (n = 398 (34%)), or DDDRP+MVP (n = 383 (33%)) group. The incidence of permanent AF, as defined by the study investigator, or persistent AF, defined as ≥7 consecutive days with AF, was estimated using the Kaplan-Meier method, while its association with patients' characteristics was evaluated via multivariable Cox regression.

Results: At 2 years, the incidence of permanent or persistent AF was 26% (95% confidence interval [CI] 22%-31%) in the DDDR group, 25% (95% CI 21%-30%) in the MVP group, and 15% (95% CI 12%-20%) in the DDDRP+MVP group (P < .001 vs. DDDR; P = .002 vs. MVP). Generalized estimating equation-adjusted Reactive ATP efficacy was 44.4% (95% CI 41.3%-47.6%). Multivariate modeling identified high Reactive ATP efficacy (>44.4%) as a significant predictor of reduced permanent or persistent AF risk (hazard ratio 0.32; 95% CI 0.13-0.781; P = .012) and episodes' characteristics, such as long atrial arrhythmia cycle length, regularity, and the number of rhythm transitions, as predictors of high ATP efficacy.

Conclusion: In patients with bradycardia, DDDRP+MVP delays AF disease progression, with Reactive ATP efficacy being an independent predictor of permanent or persistent AF reduction.

Keywords: Antitachycardia pacing; Atrial fibrillation; Pacemaker; Reactive ATP. *5

*1Auricular fibrillation and stroke in patients with sick sinus syndromeusing permanent pacemakers]

[Article in Spanish]

R Sanjuán Máñez et al. Rev Esp Cardiol. 1996 Jul.

*2Stroke in pacemaker users for sinus disease. Relevance of atrial function and clinical characteristics].

*3Management of atrial fibrillation in bradyarrhythmias

Giuseppe Boriani et al. Nat Rev Cardiol. 2015 Jun.

*4 Programming Pacemakers to Reduce and Terminate Atrial Fibrillation

Margarida Pujol-López et al. Curr Cardiol Rep. 2019.

*5New-generation atrial antitachycardia pacing (Reactive ATP) is associated with reduced risk of persistent or permanent atrial fibrillation in patients with bradycardia: Results from the MINERVA randomized multicenter international trial

Luigi Padeletti et al. Heart Rhythm. 2015 Aug.