Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy.

Curr Cardiol Rev

Department of Internal Medicine - Faculty of Medicine, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.

Published: October 2024

AI Article Synopsis

  • - Female carriers of Duchenne Muscular Dystrophy (DMD) have a specific variant in the dystrophin gene and can pass this on to their children; DMD mainly affects boys.
  • - Even if they show no noticeable symptoms, these carriers can have significant heart issues, with echocardiography showing cardiac involvement in a notable percentage of these women.
  • - The article discusses how to assess and manage the health of female DMD carriers, emphasizing the importance of cardiac screening due to the increased risk of cardiomyopathy.

Article Abstract

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440328PMC
http://dx.doi.org/10.2174/011573403X292850240719074112DOI Listing

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