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Article

RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome.

Molecular genetics & genomic medicine - 1 Jan 2024

Zheng Jingjing, Peng Longyun, Cheng Ruofei, Li Zhiyan, Xie Jianjie, Huang Erwen, Cheng Jianding, Zhao Qianhao

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is predominantly caused by mutations in sarcomeric genes. However, a subset of cases is attributed to genetic disorders unrelated to sarcomeric genes, such as Noonan syndrome (NS) and other RASopathies. In this study, we present a family with a history of sudden cardiac death (SCD) and focus on two adults with syndromic left ventricular hypertrophy (LVH). METHODS:...

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Identifiers

PMID: 37787490
DOI: 10.1002/mgg3.2290
PMCID: PMC10767430

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