Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy.

IF 2.4 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Current Cardiology Reviews Pub Date : 2024-01-01 DOI:10.2174/011573403X292850240719074112
Rose Mary Ferreira Lisboa da Silva
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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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杜兴氏肌肉萎缩症患儿母亲的心脏病。
杜兴氏肌肉萎缩症(DMD)的女性携带者携带肌营养不良蛋白基因中的杂合致病变体,并可将致病变体遗传给后代。DMD 是一种 X 连锁隐性遗传病,每 10 万名男婴中就有 19.8 人患病。有症状的携带者可被称为女性肌营养不良症患者。即使在无症状的携带者中,也有 2.5% 至 75% 的人可通过超声心动图检查发现心脏受累。最常受影响的左心室壁是下外侧,通过心脏核共振可发现心肌纤维化。因此,由于心肌病的风险,建议对这些女性携带者进行筛查。目前还缺乏对这些携带者演变情况的纵向研究。本文讨论了肌营养不良症女性患者和 DMD 携带者的临床表现、心脏评估数据以及治疗这些患者的方法。
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来源期刊
Current Cardiology Reviews
Current Cardiology Reviews CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
3.70
自引率
10.50%
发文量
117
期刊介绍: Current Cardiology Reviews publishes frontier reviews of high quality on all the latest advances on the practical and clinical approach to the diagnosis and treatment of cardiovascular disease. All relevant areas are covered by the journal including arrhythmia, congestive heart failure, cardiomyopathy, congenital heart disease, drugs, methodology, pacing, and preventive cardiology. The journal is essential reading for all researchers and clinicians in cardiology.
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