ArticleFrontiers in cardiovascular medicine2025
Novel compound heterozygous
Article in Frontiers in cardiovascular medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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10 authors.
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Abstract
Background: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiovascular disease characterised by myocardial hypertrophy with a prevalence of approximately 0.2%-0.5%. Recently, in addition to mutations in genes encoding sarcomeric proteins, which have traditionally been implicated in the development of HCM, mutations in genes encoding non-sarcomeric proteins have also been found to be associated with the development of HCM.This report details the first documented case in China of severe HCM caused by compound heterozygous mutations in the non-sarcomeric proteins Case presentation: This article reports the case of an 18-year-old female patient with HCM, who presented to hospital with sudden transient loss of consciousness while hiking,and the diagnosis was confirmed by echocardiography and genetic testing. Whole exome sequencing revealed a novel compound heterozygous variant in the Conclusions: This case suggests that compound heterozygosity for nonsense mutations combined with missense mutations in the
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