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Update on hypertrophic cardiomyopathy and a guide to the guidelines

Sen-Chowdhry, S; Jacoby, D; Moon, JC; McKenna, WJ; (2016) Update on hypertrophic cardiomyopathy and a guide to the guidelines. Nature Reviews Cardiology , 13 (11) pp. 651-675. 10.1038/nrcardio.2016.140. Green open access

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Abstract

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.

Type: Article
Title: Update on hypertrophic cardiomyopathy and a guide to the guidelines
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/nrcardio.2016.140
Publisher version: http://doi.org/10.1038/nrcardio.2016.140
Language: English
Additional information: © 2016 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
Keywords: Cardiac hypertrophy; Cardiovascular genetics; Disease genetics
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Population Science and Experimental Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1520709
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