Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy

Female carriers of Duchenne Muscular Dystrophy (DMD) carry a heterozygous pathogenic variant in the dystrophin gene and can transmit pathogenic variants to their offspring. DMD is an X-linked recessive disease that affects up to 19.8 in every 100,000 male births. Those carriers with symptoms can be...

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Bibliographic Details
Published in:Current cardiology reviews 2024-01, Vol.20 (6), p.68-75
Main Author: da Silva, Rose Mary Ferreira Lisboa
Format: Article
Language:English
Subjects:
Child
Dystrophin - genetics
Echocardiography
Female
Heart Diseases - etiology
Heterozygote
Humans
Medicine, Cardiology
Mothers
Muscular Dystrophy, Duchenne - complications
Muscular Dystrophy, Duchenne - genetics
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Summary:Female carriers of Duchenne Muscular Dystrophy (DMD) carry a heterozygous pathogenic variant in the dystrophin gene and can transmit pathogenic variants to their offspring. DMD is an X-linked recessive disease that affects up to 19.8 in every 100,000 male births. Those carriers with symptoms can be referred to as women with dystrophinopathy. Even among asymptomatic carriers, cardiac involvement can be verified in between 2.5% and 75% through echocardiography. The most commonly affected wall of the left ventricle is the inferolateral, with myocardial fibrosis detected by cardiac nuclear resonance. Therefore, screening is recommended for these women carriers due to the risk of cardiomyopathy. There is a lack of longitudinal studies on the evolution of these carriers. In this article, data on clinical presentation, cardiac assessment for female patients with dystrophinopathy and DMD carriers, and approaches for these patients are discussed.
ISSN:1573-403X
1875-6557
1875-6557
DOI:10.2174/011573403X292850240719074112