Filippo Angelini, Pier Paolo Bocchino, Veronica Dusi, Stefano Pidello, Gaetano Maria De Ferrari, Claudia Raineri
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引用次数: 0
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.
期刊介绍：
The European Heart Journal Supplements (EHJs) is a long standing member of the ESC Journal Family that serves as a publication medium for supplemental issues of the flagship European Heart Journal. Traditionally EHJs published a broad range of articles from symposia to special issues on specific topics of interest.
The Editor-in-Chief, Professor Roberto Ferrari, together with his team of eminent Associate Editors: Professor Francisco Fernández-Avilés, Professors Jeroen Bax, Michael Böhm, Frank Ruschitzka, and Thomas Lüscher from the European Heart Journal, has implemented a change of focus for the journal. This entirely refreshed version of the European Heart Journal Supplements now bears the subtitle the Heart of the Matter to give recognition to the focus the journal now has.
The EHJs – the Heart of the Matter intends to offer a dedicated, scientific space for the ESC, Institutions, National and Affiliate Societies, Associations, Working Groups and Councils to disseminate their important successes globally.
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