Mimics of Hypertrophic Cardiomyopathy - Diagnostic Clues to Aid Early Identification of Phenocopies

Arrhythmia & Electrophysiology Review
Rajiv SankaranarayananClifford J Garratt

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common genetic cause of cardiomyopathy worldwide. Significant advances and widespread availability of genetic testing have improved detection of the sarcomeric mutations that cause HCM, but have also highlighted the significance of inborn errors of metabolism (IEM) or metabolic storage disorders that can mimic HCM ('HCM phenocopies'). These conditions cannot always be reliably differentiated on the basis of imaging alone. Whilst HCM phenocopies are relatively rare, it is crucial to distinguish these conditions at an early stage as their natural history, management and prognosis vary significantly from that of HCM with sarcomeric mutations. This review illustrates the salient features of HCM phenocopies and stresses the need for a high level of suspicion for these conditions in the assessment of cardiac hypertrophy.

Citations

Oct 12, 2018·Insights Into Imaging·Cristina MéndezLorenzo Monserrat
Jun 8, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Francesco MazzarottoIacopo Olivotto
Feb 23, 2020·Cardiovascular Drugs and Therapy·Francesco MazzarottoRoddy Walsh
Aug 15, 2015·Global Heart·Anushree AgarwalA Jamil Tajik
Apr 21, 2020·Journal of the American Heart Association·Francesco MazzarottoRoddy Walsh
Aug 2, 2018·International Journal of Molecular Sciences·Petr G Vikhorev, Natalia N Vikhoreva
Jan 23, 2020·Current Medical Imaging Reviews·Fabrizio RicciSabina Gallina
Jan 13, 2021·Current Cardiology Reports·Fergus StaffordJodie Ingles
Feb 7, 2021·Journal of Cardiac Surgery·Vincent ChauvetteDenis Bouchard
Nov 18, 2020·International Journal of Environmental Research and Public Health·Francesca BecherucciPaola Romagnani

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