The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy
Athanasios Bakalakos, Emanuele Monda, Perry Elliott
Abstract
Hypertrophic cardiomyopathy (HCM) is a common myocardial disease defined by increased left ventricular wall thickness unexplained by loading conditions. HCM frequently is caused by pathogenic variants in sarcomeric protein genes, but several other syndromic, metabolic, infiltrative, and neuromuscular diseases can result in HCM phenocopies. This review summarizes the current understanding of these HCM mimics, highlighting their importance across the life course. The central role of a comprehensive, multiparametric diagnostic approach and the potential of precision medicine in tailoring treatment strategies are emphasized.
Topics & Concepts
PhenocopyMedicineHypertrophic cardiomyopathyDiseaseCardiologyCardiomyopathyInternal medicineHeart failureGeneGeneticsPhenotypeBiologyCardiomyopathy and Myosin StudiesTrypanosoma species research and implicationsAmyloidosis: Diagnosis, Treatment, Outcomes