Eekhoff Lauren, Edwards Janice, Martin Ann, Prijoles Eloise J
Intermountain Healthcare, Division of Reproductive Genetics, Salt Lake City, Utah.
Genetic Counseling Program, University of South Carolina School of Medicine, Columbia, South Carolina.
J Genet Couns. 2019 Oct;28(5):993-1002. doi: 10.1002/jgc4.1151. Epub 2019 Aug 1.
Duchenne and Becker muscular dystrophy (DBMD) are X-linked conditions causing progressive muscle weakness, muscle wasting, and cardiomyopathy in affected males. Two-thirds of cases of DBMD are inherited from a carrier female while one-third of cases occur sporadically. Women who are DBMD carriers typically do not manifest noticeable muscular symptoms. However, about 10% may develop cardiomyopathy while up to 60% are at risk for cardiac abnormalities including myocardial damage, fibrosis, and abnormalities detectable by echocardiogram and electrocardiogram (EKG). The American Academy of Pediatrics (AAP) recommends that carriers of DBMD receive a complete cardiac evaluation beginning at age 25-30 which includes an echocardiogram and EKG, with re-evaluation at least every 5 years. As many as 54.5% carriers may not be adhering to the AAP recommendations (Bogue et al., 2016). This study was conducted to define the perceived challenges carriers of DBMD face in obtaining cardiac care. A questionnaire was completed by 60 carriers of DBMD recruited through The Duchenne Registry to determine their current cardiac care practices. The majority of carriers surveyed (71.7%, 43/60) self-reported obtaining appropriate cardiac care while 28.3% (17/60) of carriers surveyed did not. Eleven semi-structured telephone interviews were conducted with a subset of those who completed the questionnaire. Individuals were eligible for telephone interview if they had not: (a) seen a cardiologist in the last 5 years, (b) had an echocardiogram in the last 5 years, or (c) had an EKG in the last 5 years. The primary theme identified from this cohort was a perceived lack of awareness among healthcare providers regarding cardiac risks in carriers (11/11). Increased awareness, health education regarding risks for carriers, and advocacy efforts are needed for healthcare providers and DBMD carriers in order to ensure that this entire population receives the cardiac care they need.
杜兴氏和贝克氏肌营养不良症（DBMD）是X连锁疾病，会导致受影响男性出现进行性肌肉无力、肌肉萎缩和心肌病。三分之二的DBMD病例是由携带致病基因的女性遗传而来，而三分之一的病例为散发性。DBMD基因携带者女性通常不会表现出明显的肌肉症状。然而，约10%的携带者可能会发展为心肌病，高达60%的携带者存在心脏异常风险，包括心肌损伤、纤维化以及可通过超声心动图和心电图（EKG）检测到的异常。美国儿科学会（AAP）建议，DBMD基因携带者从25至30岁开始接受全面的心脏评估，包括超声心动图和EKG检查，并至少每5年重新评估一次。多达54.5%的携带者可能未遵循AAP的建议（博古等人，2016年）。本研究旨在确定DBMD基因携带者在获得心脏护理方面所面临的可感知挑战。通过杜兴氏注册中心招募了60名DBMD基因携带者，他们完成了一份问卷，以确定其当前的心脏护理情况。接受调查的大多数携带者（71.7%，43/60）自我报告获得了适当的心脏护理，而28.3%（17/60）的受调查携带者则没有。对完成问卷的一部分人进行了11次半结构化电话访谈。符合电话访谈条件的个体需满足以下情况：（a）在过去5年中未看过心脏病专家，（b）在过去5年中未进行过超声心动图检查，或（c）在过去5年中未进行过EKG检查。从该队列中确定的主要主题是，医疗服务提供者对携带者心脏风险的认识不足（11/11）。为了确保这一群体都能获得所需的心脏护理，医疗服务提供者和DBMD基因携带者都需要提高认识、开展关于携带者风险的健康教育并进行宣传努力。
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