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

Yasuhiro Ikawa; Taichi Nakamura; Noboru Fujino; Toru Uchiyama; Akira Ishiguro; Mika Takenaka; Yuta Sakai; Kazuhiro Noguchi; Toshihiro Fujiki; Taizo Wada

doi:10.1002/ccr3.8304

Clinical Case Reports (Feb 2024)

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

Yasuhiro Ikawa,
Taichi Nakamura,
Noboru Fujino,
Toru Uchiyama,
Akira Ishiguro,
Mika Takenaka,
Yuta Sakai,
Kazuhiro Noguchi,
Toshihiro Fujiki,
Taizo Wada

Affiliations

Yasuhiro Ikawa: Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan
Taichi Nakamura: Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan
Noboru Fujino: Department of Cardiovascular Medicine, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan
Toru Uchiyama: Department of Humana Genetics National Center for Child Health and Development Setagaya‐ku Japan
Akira Ishiguro: National Center for Child Health and Development Center for Postgraduate Education and Training Setagaya‐ku Japan
Mika Takenaka: Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan
Yuta Sakai: Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan
Kazuhiro Noguchi: Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan
Toshihiro Fujiki: Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan
Taizo Wada: Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan

DOI: https://doi.org/10.1002/ccr3.8304
Journal volume & issue: Vol. 12, no. 2
pp. n/a – n/a

Abstract

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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. Abstract The 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.

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904

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Abstract

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