A case of <i>MYH7</i> and <i>MYH9</i> genes variants with cardiomyopathy and macrothrombocytopenia-Reference-Cited by-同舟云学术

A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia

Published:2024-02 Issue:2 Volume:12 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Ikawa Yasuhiro¹^ORCID,Nakamura Taichi¹,Fujino Noboru²^ORCID,Uchiyama Toru³,Ishiguro Akira⁴,Takenaka Mika¹,Sakai Yuta¹,Noguchi Kazuhiro¹,Fujiki Toshihiro¹,Wada Taizo¹

Affiliation:

1. Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan

2. Department of Cardiovascular Medicine, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan

3. Department of Humana Genetics National Center for Child Health and Development Setagaya‐ku Japan

4. National Center for Child Health and Development Center for Postgraduate Education and Training Setagaya‐ku Japan

Abstract

Key Clinical Message.A 15‐year‐old girl developed inherited cardiomyopathy and macrothrombocytopenia revealing pathogenic variants of both MYH7 and MYH9 genes. This underlies the importance of repeated genetic testing in diagnosing and managing inherited disorders.AbstractThe MYH7 and MYH9 genes encode for distinct myosin heavy chain proteins. Our case features a 15‐year‐old girl, presenting with inherited cardiomyopathy and macrothrombocytopenia, revealing distinct pathogenic variants of both MYH7 and MYH9 genes. This underlines the relevance of genetic testing and personalized medicine in diagnosing and managing inherited disorders.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.8304

Reference11 articles.

1. Phenotypic diversity in hypertrophic cardiomyopathy

2. A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

3. Hereditary cardiovascular dysplasia

4. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

5. Hypertrophic Cardiomyopathy