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

Author:

Zheng Jingjing12,Peng Longyun3,Cheng Ruofei12,Li Zhiyan12,Xie Jianjie12,Huang Erwen12,Cheng Jianding12,Zhao Qianhao12ORCID

Affiliation:

1. Faculty of Forensic Medicine, Zhongshan School of Medicine Sun Yat‐Sen University Guangzhou China

2. Guangdong Province Translational Forensic Medicine Engineering Technology Research Center Sun Yat‐Sen University Guangzhou China

3. Department of Cardiology The First Affiliated Hospital, Sun Yat‐Sen University Guangzhou China

Abstract

AbstractBackgroundHypertrophic 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).MethodsClinical evaluations, including echocardiography, were conducted to assess cardiac manifestations. Whole‐exome sequencing was performed to identify potential genetic variants underlying syndromic LVH in the study participants.ResultsWhole‐exome sequencing revealed a missense variant in the RAF1 gene, c.782C>T (p.Pro261Leu). This variant confirmed the diagnosis of NS in the affected individuals.ConclusionThe findings of this study underscore the importance of family history investigation and genetic testing in diagnosing syndromic LVH. By identifying the underlying genetic cause, clinicians can better understand the etiology of RAS‐HCM and its association with SCD in young adults.

Funder

National Natural Science Foundation of China

Natural Science Foundation of Guangdong Province

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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