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

Jingjing ZhengLongyun PengRuofei ChengZhiyan LiJianjie XieErwen HuangJianding ChengJianding Cheng
Published in: Molecular genetics & genomic medicine (2023)
The 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.
Keyphrases
  • hypertrophic cardiomyopathy
  • left ventricular
  • young adults
  • genome wide
  • intellectual disability
  • gene expression
  • dna methylation
  • wild type