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Case Reports
. 2024 Feb 1;12(2):e8304.
doi: 10.1002/ccr3.8304. eCollection 2024 Feb.

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

Yasuhiro Ikawa  1 , Taichi Nakamura  1 , Noboru Fujino  2 , Toru Uchiyama  3 , Akira Ishiguro  4 , Mika Takenaka  1 , Yuta Sakai  1 , Kazuhiro Noguchi  1 , Toshihiro Fujiki  1 , Taizo Wada  1
Affiliations
Case Reports

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

Yasuhiro Ikawa et al. Clin Case Rep. .

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.

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.

Keywords: MYH7; MYH9; cardiomyopathy; macrothrombocytopenia.

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Figures

FIGURE 1
FIGURE 1
Family pedigree chart. The arrow indicates the patient. The right side of the black line corresponds to cardiomyopathy. The black line on the left represents chronic thrombocytopenia.
FIGURE 2
FIGURE 2
Cardiac function test and a blood smear of the patient. (A) Electrocardiography and echocardiography of the patient. Electrocardiography shows a strain pattern in V5 and V6 leads. Echocardiography demonstrates left ventricular hypertrophy. (B) A blood smear of the patient. Giant platelets (arrow) and Döhle‐like bodies (arrowhead) are shown.
See this image and copyright information in PMC

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