Inherited cardiomyopathies

This international consensus statement of the European Heart Rhythm Association (EHRA), Heart Rhythm Society (HRS), and Asia Pacific Heart Rhythm Society is intended to provide clinical guidance for the management of patients with ventricular arrhythmias (VAs). It summarizes the consensus of the international writing group members and is based on a systematic review of the medical literature regarding VAs.

The spectrum of VAs ranges from those that are benign and asymptomatic to those that produce severe symptoms including sudden cardiac death (SCD). In addition, many patients exhibit multiple forms of VAs over time. Thus, clinicians who encounter patients with VAs face important questions regarding which diagnostic tests are needed and which treatments, if any, should be offered. The Writing Committee recognizes that the manner in which patients present with VAs varies greatly. The electrocardiographic recording of a VA may be the first and only manifestation of a cardiac abnormality; alternatively, patients with a prior diagnosis of cardiac disease may later develop these arrhythmias. Thus, the specific arrhythmia and the underlying structural heart disease (SHD), if any, may have important prognostic and treatment implications.

This document addresses the indications for diagnostic testing, the present state of prognostic risk stratification, and the treatment strategies that have been demonstrated to improve the clinical outcome of patients with VAs. In addition, this document includes recommendations for referral of patients to centres with specialized expertise in the management of arrhythmias. Wherever appropriate, the reader is referred to other publications regarding the indications for implantable cardioverter-defibrillator (ICD) implantation,1,2 catheter ablation,3 inherited arrhythmia syndromes,4,4a,5 congenital heart disease (CHD),6 the use of amiodarone,7 and the management of patient with ICD shocks,8 syncope,9 or those nearing end of life.10 The consensus recommendations in this document …

https://www.heartrhythmjournal.com/article/S1547-5271(14)00797-8/pdf

EHRA/HRS/APHRS expert consensus on ventricular arrhythmias

The original 1994 International Task Force criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC / D) were based on structural,histological,ECG,arrhythmic,and familial features of the disease (Table 1)Abnormalities were subdivided into major and minor categories according to the specificity of their association with ARVC / DRight precordial T-wave inversion,though well recognized in ARVC / D,was considered a minor criterion because of its presence in other conditions,including anterior ischemia and right ventricular (RV) hypertrophyArrhythmias of RV origin,another cardinal feature of ARVC / D,was designated a minor criterion because of its occurrence in other diseases,particularly idiopathic RV outflow tract tachycardia

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia： Proposed Modification of the Task Force Criteria

Aims Athletic training in male black athletes (BAs) is associated with marked ECG repolarization changes that overlap with hypertrophic cardiomyopathy (HCM). Differentiating between the two entities is prudent since BAs exhibit a higher prevalence of exercise-related sudden death from HCM compared with white athletes (WAs).

Methods and results Between 1996 and 2010, 904 BAs underwent serial cardiac evaluations including ECG and echocardiography. Athletes exhibiting T-wave inversions were investigated further for HCM. Results were compared with 1819 WAs, 119 black controls (BCs), and 52 black HCM patients. Athletes were followed up for 69.7 ± 29.6 months. T-wave inversions were present in 82.7% HCM patients, 22.8% BAs, 10.1% BCs, and 3.7% WAs. In athletes, the major determinant of T-wave inversions was black ethnicity. T-wave inversions in BAs (12.7%) were predominantly confined to contiguous anterior leads (V1–V4). Only 4.1% of BAs exhibited T-wave inversions in the lateral leads. In contrast, both BCs and HCM patients exhibited lower prevalence of T-wave inversions in leads V1–V4 (4.2 and 3.8%, respectively) with most T-wave inversions in HCM patients (76.9%) involving the lateral leads. During follow-up one BA survived cardiac arrest and two athletes (one BA, one WA) were diagnosed with HCM. All three exhibited T-wave inversions in the lateral leads.

Conclusions T-wave inversions in leads V1–V4 appear to represent an ethnic variant of ‘athlete's heart’. Conversely, T-wave inversions in the lateral leads may represent the initial expression of underlying cardiomyopathy and merit further evaluation and regular surveillance.

The prevalence, distribution, and clinical outcomes of electrocardiographic repolarization patterns in male athletes of African/Afro-Caribbean origin

Whilst the decision regarding defibrillator implantation in a patient with a familial sudden cardiac death syndrome is likely to be most significant for any particular individual, the clinical decision-making process itself is complex and requires interpretation and extrapolation of information from a number of different sources. This document provides recommendations for adult patients with the congenital Long QT syndromes, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, hypertrophic cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy. Although these specific conditions differ in terms of clinical features and prognosis, it is possible and logical to take an approach to determining a threshold for implantable cardioveter-defibrillator implantation that is common to all of the familial sudden cardiac death syndromes based on estimates of absolute risk of sudden death.

Heart Rhythm UK position statement on clinical indications for implantable cardioverter defibrillators in adult patients with familial sudden cardiac death syndromes.

The sudden unexpected death of a young person can have profound implications for the surviving family members beyond those associated with bereavement and the immediate sense of loss. Among these other sequelae may be a concern that the sudden death was caused by a genetic condition and that other family members may suffer the same fate. Increased awareness of these inherited conditions and the transfer of the techniques of genetic testing from the research laboratory into the clinical arena make it possible to identify genetically affected individuals before they have symptoms or experience sudden cardiac death. The development of such tests has been paralleled by the emergence of preventative treatments, which have amplified the clinical importance of such tests. This document provides recommendations regarding the clinical indications for these tests based on the best available evidence.

Heart Rhythm UK Familial Sudden Death Syndromes Statement Development Group. Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement.

A Jolly

Papers

Heart Rhythm UK position statement on clinical indications for implantable cardioverter defibrillators in adult patients with familial sudden cardiac death syndromes.

Heart Rhythm UK Familial Sudden Death Syndromes Statement Development Group. Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement.