Wernhart Simon, Kastner Tom, Halle Martin, Mueller Stephan, Schmid Veronika, Akbulut Cihan, Wolf Cordula M, Meierhofer Christian, Trenkwalder Teresa, Diebold Isabel, Herzog Christopher, Brill Richard, Haykowsky Mark J, Foulkes Stephen, Wolfarth Bernd, Martens Eimo, Westphal Dominik S
Department for Preventive Sports Medicine and Sports Cardiology, TUM School of Medicine and Health, TUM University Hospital, Technical University Munich (TUM), Munich, Germany.
DZHK (German Centre for Cardiovascular Research), Munich Heart Alliance, Munich, Germany.
Front Cardiovasc Med. 2025 Jul 7;12:1606994. doi: 10.3389/fcvm.2025.1606994. eCollection 2025.
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.
杜兴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，除了周围肌肉损伤外，还可能伴有严重的心脏并发症。在女性肌营养不良携带者（MDC）中，肌肉症状和心脏并发症较轻甚至没有。患有肌营养不良症的男性通常无法进行剧烈运动，而身为MDC的女性则可以进行轻度甚至高强度的运动。然而，参与精英运动，特别是具有高心肺运动负荷的耐力运动，对身为MDC的女性运动员的影响尚不确定。在此，我们描述了两例身为MDC的女性精英运动员参与耐力运动的罕见病例。我们描述了她们的临床表现、急性运动期间心脏生物标志物和外周肌肉酶的动力学，以及在体育资格背景下的心脏表现，包括关于是否继续参加运动的跨学科共同决策方法。这种方法侧重于肌营养不良症的病理生理学和遗传学，尤其关注基因携带者状态。虽然主要关注点是心脏性猝死的风险分层及其预防，但在MDC中还需要考虑心肌功能障碍甚至心力衰竭早期发作的潜在风险。为了优化运动建议，这些复杂且罕见的运动员病例需要一种跨学科方法，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处。
