Hypertrophic cardiomyopathy in adults: An overview

Abstract

Purpose To present an overview of clinical issues related to adults with hypertrophic cardiomyopathy (HCM), their presenting symptoms, diagnosis, physical examination findings, treatment, and follow‐up care. Data sources A comprehensive search of Medline (PubMed) and CINAHL was conducted using the key terms HCM, treatment, diagnosis, sudden cardiac death (SCD), and complications. This search yielded 21 articles used for this article. There were three reference books used for background, diagnosis, and treatment information as well. Conclusions Although HCM is the most prevalent genetic disorder affecting the heart, it often goes undiagnosed until midlife after patients show symptoms of myocardial remodeling. Adults with cardiomyopathy suffer SCD or adverse events such as stroke and heart failure from HCM. Early diagnosis will prevent SCD, improve quality of life, and slow patient's progression to heart failure. Implications for practice Early recognition of HCM in adults by their primary care providers will improve patients’ quality of life and reduce incidence of SCD, heart failure, and stroke.

Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies

“…Practice guidelines and expert opinions on clinical management and genetic testis recommend: a) the genetic test of the genes MYBPC3, MYH7, TNNI3, TNNT2 and TPM1, are recommended for any patient whom a cardiologist has established a clinical diagnosis of HCM based on examination of the patient´s clinical history, family history and electrocardiographic/echocardiographic phenotype [12], b) mutationspecific genetic testing is recommended for family members and appropriate relatives following the identification of the HCM-causative mutation in an index case [13].…”