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Genetic testing versus clinical screening for relatives of patients with hypertrophic cardiomyopathy in the Brazilian public health system: a cost-utility analysis
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DOI：10.1016/j.langlo.2026.103979.png)
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Abstract
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Hypertrophic cardiomyopathy (HCM) is an autosomal dominant myocardial disorder affecting 0·2% of the global population and a leading cause of sudden cardiac death in young individuals and athletes. Current guidelines recommend periodic clinical screening of first-degree relatives for early diagnosis and risk stratification. Genetic testing identifies at-risk individuals while exempting genotype-negative relatives from lifelong surveillance. However, it remains unavailable in Brazil’s public health system (Sistema Único de Saúde, SUS). This study aimed to evaluate the cost-utility of genetic testing for HCM cascade screening in Brazil.
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