Arq Bras Cardiol: Imagem cardiovasc. 2022; 35(4): eed_23
How to Perform a Diagnostic and Prognostic Analysis of Hypertrophic Cardiomyopathy in 2022: Should we Divide to Improve Treatment?
DOI: 10.47593/2675-312X/20223504eed_23i
Hypertrophic cardiomyopathy (HCM), the most common genetic heart disease, has an estimated prevalence in the general population of 1:500–1:200. The diagnosis is based on the presence of left ventricular hypertrophy (LVH) that is not fully explained by loading conditions, and HCM occurs in the absence of other cardiac, systemic, or metabolic disease or in the context of a multiorgan syndrome associated with LVH.
Despite being considered a genetic disease, the initial diagnosis of HCM does not require genetic testing. The diagnostic power of current genetic panels is modest, just 46%; therefore, failure to detect a mutation does not exclude the diagnosis. Current guidelines recommend genetic testing, especially when the possibility of cascading familial genetic screening is anticipated or in cases in which the clinical presentation suggests a specific non-sarcomeric etiology potentially treatable with specific therapy, such as Anderson-Fabry disease, Danon disease, or familial amyloidosis.
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