Update on hypertrophic cardiomyopathy and a guide to the guidelines.
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, affecting 1 in 500 individuals worldwide. Existing epidemiological studies might have underestimated the prevalence of HCM, however, owing to limited inclusion of individuals with early, incomplete phenotypic expression. Clinical manifestations of HCM include diastolic dysfunction, left ventricular outflow tract obstruction, ischaemia, atrial fibrillation, abnormal vascular responses and, in 5% of patients, progression to a 'burnt-out' phase characterized by systolic impairment. Disease-related mortality is most often attributable to sudden cardiac death, heart failure, and embolic stroke. The majority of individuals with HCM, however, have normal or near-normal life expectancy, owing in part to contemporary management strategies including family screening, risk stratification, thromboembolic prophylaxis, and implantation of cardioverter-defibrillators. The clinical guidelines for HCM issued by the ACC Foundation/AHA and the ESC facilitate evaluation and management of the disease. In this Review, we aim to assist clinicians in navigating the guidelines by highlighting important updates, current gaps in knowledge, differences in the recommendations, and challenges in implementing them, including aids and pitfalls in clinical and pathological evaluation. We also discuss the advances in genetics, imaging, and molecular research that will underpin future developments in diagnosis and therapy for HCM.
Institute of Cardiovascular Science, University College London, Gower Street, London WC1E 6BT, UK.|Department of Epidemiology, Imperial College, St Mary's Campus, Norfolk Place, London W2 1NY, UK.
Srijita
S
Sen-Chowdhry
Section of Cardiovascular Medicine, Yale School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA.
Daniel
D
Jacoby
Institute of Cardiovascular Science, University College London, Gower Street, London WC1E 6BT, UK.|Barts Heart Centre, St Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK.
James C
JC
Moon
Heart Hospital, Hamad Medical Corporation, Al Rayyan Road, Doha, Qatar.
William J
WJ
McKenna
D002309:Cardiology / Q000592:standards*; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000401:mortality / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D017410:Practice Guidelines as Topic / Q000592:standards*; D011237:Predictive Value of Tests; D016896:Treatment Outcome
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