Cardiac involvement in female elite athletes with carrier status of Duchenne muscular dystrophy.

IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS
Frontiers in Cardiovascular Medicine Pub Date : 2025-07-07 eCollection Date: 2025-01-01 DOI:10.3389/fcvm.2025.1606994
Simon Wernhart, Tom Kastner, Martin Halle, Stephan Mueller, Veronika Schmid, Cihan Akbulut, Cordula M Wolf, Christian Meierhofer, Teresa Trenkwalder, Isabel Diebold, Christopher Herzog, Richard Brill, Mark J Haykowsky, Stephen Foulkes, Bernd Wolfarth, Eimo Martens, Dominik S Westphal
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Abstract

Duchenne muscular dystrophy is a muscle-wasting, progressive, X-linked inherited disease in young male individuals, who-aside from peripheral muscular impairment-may also suffer from severe cardiac complications. In women who are muscular dystrophy carriers (MDCs), muscular symptoms and cardiac complications are less severe or even absent. While male individuals with muscular dystrophy are not usually able to perform strenuous exercise, women who are MDCs can exercise at mild, or even high, intensity. However, the impact of participating in elite sports, particularly endurance sports with high cardiopulmonary exercise strain, on female athletes who are MDCs is uncertain. Herein, we describe two rare cases of female elite athletes who are MDCs who participated in endurance sports. We describe their clinical presentation, kinetics of cardiac biomarkers and peripheral muscle enzymes during acute exercise, and cardiac manifestations in the context of sports eligibility, including an interdisciplinary shared decision-making approach to whether to continue participating in sports. This approach focuses on pathophysiology and genetics in dystrophinopathies, with a particular focus on genetic carrier status. While the primary concern is risk stratification for sudden cardiac death and its prevention, the potential risk of early onset of myocardial dysfunction or even heart failure also needs to be considered in MDCs. To optimize exercise recommendations, these complex and rare cases of athletes require an interdisciplinary approach, including experts in sports cardiology, sports medicine, radiology, and genetics, and should be included in a long-term international sports cardiology registry.

女性精英运动员杜氏肌营养不良携带者的心脏病变。
杜氏肌营养不良症是一种发生在年轻男性个体中的肌肉萎缩、进行性、x连锁遗传性疾病,除了外周肌肉损伤外,还可能患有严重的心脏并发症。在女性肌营养不良携带者(MDCs)中,肌肉症状和心脏并发症不太严重,甚至没有。患有肌肉萎缩症的男性通常不能进行剧烈运动,而患有MDCs的女性可以进行轻度甚至高强度的运动。然而,参加精英运动,特别是高心肺运动应变的耐力运动,对MDCs女性运动员的影响是不确定的。在此,我们描述了两个罕见的女性精英运动员谁是MDCs谁参加耐力运动。我们描述了他们的临床表现,急性运动期间心脏生物标志物和外周肌肉酶的动力学,以及运动资格背景下的心脏表现,包括跨学科的共同决策方法,以决定是否继续参加运动。这种方法侧重于营养不良症的病理生理学和遗传学,特别关注遗传载体状态。虽然主要关注的是心源性猝死的风险分层及其预防,但早发性心肌功能障碍甚至心力衰竭的潜在风险也需要在MDCs中考虑。为了优化运动建议,这些复杂和罕见的运动员病例需要跨学科的方法,包括运动心脏病学、运动医学、放射学和遗传学专家,并应纳入长期的国际运动心脏病学登记。
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来源期刊
Frontiers in Cardiovascular Medicine
Frontiers in Cardiovascular Medicine Medicine-Cardiology and Cardiovascular Medicine
CiteScore
3.80
自引率
11.10%
发文量
3529
审稿时长
14 weeks
期刊介绍: Frontiers? Which frontiers? Where exactly are the frontiers of cardiovascular medicine? And who should be defining these frontiers? At Frontiers in Cardiovascular Medicine we believe it is worth being curious to foresee and explore beyond the current frontiers. In other words, we would like, through the articles published by our community journal Frontiers in Cardiovascular Medicine, to anticipate the future of cardiovascular medicine, and thus better prevent cardiovascular disorders and improve therapeutic options and outcomes of our patients.
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