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From thick walls to clear answers: approaches to diagnosing hypertrophic cardiomyopathy and its mimics

Year: 2025

Type: article

Abstract: Hypertrophic cardiomyopathy (HCM) is a genetic condition primarily caused by mutations in sarcomeric proteins, leading to abnormal thickening of the left ventricular wall. Although HCM is the most common genetic cardiovascular disorder, other conditions-such as cardiac amyloidosis, Fabry disease, and mitochondrial myopathies-can mimic its phenotype, complicating diagnosis. Accurate differentiation between HCM and its phenocopies is crucial, as these conditions differ in treatment, prognosis, and inheritance. This paper reviews the clinical, imaging, and laboratory tools essential for diagnosing HCM and its mimics, emphasizing the role of advanced diagnostics like cardiac magnetic resonance, genetic testing, and tissue characterization in guiding personalized management strategies.

Source: European Heart Journal Supplements

DOI: 10.1093/eurheartjsupp/suae099

Authors: Filippo Angelini, Pier Paolo Bocchino, Veronica Dusi, Stefano Pidello, Gaetano Maria De Ferrari, Claudia Raineri

Institutions: Azienda Ospedaliera Citta' della Salute e della Scienza di Torino, University of Turin

Language: English

Topic: Cardiomyopathy and Myosin Studies

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4407750006