Key result
Genetic testing should be routinely considered in the diagnostic and prognostic evaluation of patients with hypertrophic cardiomyopathy and is an essential tool for the early diagnosis of relatives.
Genetic testing in HCM is crucial for confirming diagnosis, facilitating cascade screening in relatives, and potentially improving sudden cardiac death risk stratification beyond traditional clinical markers.
Supports genetic testing integration in HCM pathways; leaves open need for prospective outcome validation.
[first paragraph of article]Hypertrophic cardiomyopathy (HCM) is defined as a primary cardiac muscle disease characterized by the presence of myocardial hypertrophy in the absence of apparent causes for the observed degree of hypertrophy. This definition includes both familial and sporadic (apparently non-familial) forms of the disease. HCM is usually considered as a genetically determined condition. Current genotyping technologies allow for the identification of the genetic causes of the disease in 50 to 70% of the patients who fulfill clinical diagnostic criteria. However, the etiology of 30 to 40% of the cases remains elusive. This review is focused on the current role of genetic testing in HCM, and the potential benefits of the identification of the genetic etiology of the disease.
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Lorenzo Monserrat (2018) conducted a review in Hypertrophic cardiomyopathy (HCM). Genetic testing was evaluated. Genetic testing should be routinely considered in the diagnostic and prognostic evaluation of patients with hypertrophic cardiomyopathy and is an essential tool for the early diagnosis of relatives.
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