HCM is a heterogeneous disease that is classically transmitted in an autosomal dominant fashion. HCM often arises from mutations in genes responsible for the formation of cardiac sarcomeres.Sarcomeric mutations, initially discovered in the 1980s, are found in up to 70 % of patients with a family history of HCM.11 The most common mutations are in the myosin heavy chain (MYH7 gene) and myosin binding protein C (MYBPC3 gene). 12 There is marked heterogeneity in penetrance, however, and a poor understanding of how the different genotypes manifest as HCM phenotypes. Currently, there is minimal evidence to support the use of genetic testing to identify patients who are at high risk of SCD. Small studies have found that patients with a more malignant inheritance of their mutations (i.e. homozygous mutations) as well as the presence of a MYH7 gene mutation have
AbstractHypertrophic cardiomyopathy (HCM) is a common and heterogeneous disorder that increases an individual's risk of sudden cardiac death (SCD). This review article discusses the relevant factors that are involved in the challenge of preventing SCD in patients with HCM.The epidemiology of SCD in patients is reviewed as well as the structural and genetic basis behind ventricular arrhythmias in HCM. The primary prevention of SCD with implantable cardioverter-defibrillator (ICD) therapy is the cornerstone of modern treatment for individuals at high risk of SCD. The focus here is on the current and emerging predictors of SCD as well as risk stratification recommendations from both North American and European guidelines. Issues related to ICD implantation, such as programming, complications and inappropriate therapies, are discussed. The emerging role of the fully subcutaneous ICD and the data regarding its implantation are reviewed.
KeywordsHypertrophic cardiomyopathy, sudden cardiac death, implantable cardioverter defibrillator, subcutaneous implantable cardioverter-defibrillator Disclosure: Dr Trivedi has no conflicts of interest to declare. Dr Knight has been a consultant to manufacturers of implantable defibrillators and participated in clinical trials sponsored