ABC Heart Fail Cardiomyop 2023; 3(1): e20230036

Genetics in Cardiomyopathies – Genetic Tests Decoded for the Clinical Cardiologist

Arsonval Lamounier Júnior, Diane Xavier de Ávila , Roberto Barriales-Villa

DOI: 10.36660/abchf.20230036

Abstract

The era of personalized medicine emphasizes the provision of health care guided by the cardiomyopathy phenotypes described, their interpretation based on genotype, and genetic counseling. The identification of high-risk cardiomyopathy subtypes and the diagnosis of rare etiologies with potential therapies cannot be neglected. Genetic sequencing of these patients, in addition to advances in cardiac imaging techniques, has indicated a new perspective for these concepts, and consequently possible new classifications of cardiomyopathies and new clinical practices. The interaction between multidisciplinary teams and cardiology genetic experts is fundamental for a more appropriate management of gene variants, especially variants of uncertain significance that may be relevant in the expression of cardiomyopathies. This article helps cardiologists in the ordering of genetic tests and their indications, provides information about pathogenicity of variants and emphasizes family screening, challenges that may be overcome in daily practice.