Key result
Among 60 surveyed DBMD carriers, 28.3% reported not obtaining appropriate cardiac care, with 11/11 interviewed carriers citing a lack of healthcare provider awareness as the primary barrier.
Why the study?
Although DBMD carriers face significant cardiac risks and guidelines recommend periodic screening, many do not adhere to recommendations, leaving perceived challenges in obtaining cardiac care undefined.
Cross-Sectional (n=60)
Over a quarter of DBMD carriers do not receive guideline-recommended cardiac care, primarily due to a perceived lack of awareness among healthcare providers regarding their cardiac risks.
Provider unawareness may underlie missed cardiac care in DBMD carriers; leaves open whether education improves screening uptake.
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.
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Eekhoff et al. (2019) conducted a cross-sectional in Duchenne and Becker muscular dystrophy carriers (n=60). Cardiac care practices and barriers was evaluated on Self-reported obtaining appropriate cardiac care. Among 60 surveyed DBMD carriers, 28.3% reported not obtaining appropriate cardiac care, with 11/11 interviewed carriers citing a lack of healthcare provider awareness as the primary barrier.
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