Key result
Advanced diagnostics including cardiac magnetic resonance and genetic testing are essential for accurately differentiating hypertrophic cardiomyopathy from its phenocopies to guide personalized management.
Why the study?
Conditions like cardiac amyloidosis, Fabry disease, and mitochondrial myopathies can mimic HCM, complicating diagnosis despite differing treatments, prognoses, and inheritance patterns.
Accurate differentiation between hypertrophic cardiomyopathy and its phenocopies using advanced diagnostics is crucial for guiding personalized management strategies.
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.
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Angelini et al. (2025) conducted a review in Hypertrophic cardiomyopathy and its mimics. Diagnostic tools (clinical, imaging, laboratory, CMR, genetic testing) was evaluated. Advanced diagnostics including cardiac magnetic resonance and genetic testing are essential for accurately differentiating hypertrophic cardiomyopathy from its phenocopies to guide personalized management.
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