End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series

The MYH7 R453 variant has been identified in inherited hypertrophic cardiomyopathy (HCM) and is associated with sudden death and a poor prognosis. The detailed clinical course of HCM with the MYH7 R453 variant, from a preserved to a reduced left ventricular ejection fraction, has not been reported....

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Bibliographic Details
Published in:Internal Medicine 2023/11/01, Vol.62(21), pp.3167-3173
Main Authors: Naito, Susumu, Higo, Shuichiro, Kameda, Satoshi, Ogawa, Shou, Tabata, Tomoka, Akazawa, Yasuhiro, Nakamura, Daisuke, Nakamoto, Kei, Sera, Fusako, Kuramoto, Yuki, Asano, Yoshihiro, Hikoso, Shungo, Miyagawa, Shigeru, Sakata, Yasushi
Format: Article
Language:English
Subjects:
advanced heart failure
Cardiomyopathy
Case Report
Congestive heart failure
Genetic screening
hypertrophic cardiomyopathy
Internal medicine
MYH7 variant
Prognosis
Ventricle
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Summary:The MYH7 R453 variant has been identified in inherited hypertrophic cardiomyopathy (HCM) and is associated with sudden death and a poor prognosis. The detailed clinical course of HCM with the MYH7 R453 variant, from a preserved to a reduced left ventricular ejection fraction, has not been reported. We identified the MYH7 R453C and R453H variants in three patients who progressively developed advanced heart failure requiring circulatory support and summarized the clinical course and echocardiographic parameters of these patients over the years. Because of the rapid disease progression, we consider genetic screening for patients with HCM imperative for future prognosis stratification.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.1497-22