Abstract
BackgroundDuchenne muscular dystrophy (DMD) is an X-linked recessive disease that occurs in males leading to immobility and death in early adulthood. Female carriers of DMD are generally asymptomatic, yet frequently develop dilated cardiomyopathy. This study aims to detect early cardiac manifestation in DMD using cardiovascular magnetic resonance (CMR) and to evaluate its association with clinical symptoms.MethodsClinical assessment of DMD carriers included six minutes walk tests (6MWT), blood analysis, electrocardiography, echocardiography, and CMR using FLASH sequences to detect late gadolinium enhancement (LGE). T1-mapping using the Modified Look-Locker Inversion recovery (MOLLI) sequence was performed quantify extracellular volume (ECV).ResultsOf 20 carriers (age 39.47 ± 12.96 years) 17 (89.5 %) were clinically asymptomatic. ECV was mildly elevated (29.79 ± 2.92 %) and LGE was detected in nine cases (45 %). LGE positive carriers had lower left ventricular ejection fraction in CMR (64.36 ± 5.78 vs. 56.67 ± 6.89 %, p = 0.014), higher bothCK (629.89 ± 317.48 vs. 256.18 ± 109.10 U/l, p = 0.002) and CK-MB (22.13 ± 5.25 vs. 12.11 ± 2.21 U/l, p = 0.001), as well as shorter walking distances during the 6MWT (432.44 ± 96.72 vs. 514.91 ± 66.80 m, p = 0.037). 90.9 % of subjects without LGE had normal pro-BNP, whereas in 66.7 % of those presenting LGE pro-BNP was elevated (p = 0.027). All individuals without LGE were in the NYHA class I, whereas all those in NYHA classes II and III showed positive for LGE (p = 0.066).ConclusionsMyocardial involvement shown as LGE in CMR occurs in a substantial number of DMD carriers; it is associated with clinical and morphometric signs of incipient heart failure. LGE is thus a sensitive parameter for the early diagnosis of cardiomyopathy in DMD carriers.Trial registrationClinicaltrials.gov, NCT01712152 Trial registration: October 19, 2012.First patient enrolled: September 27, 2012 (retrospectively registered).
Highlights
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that occurs in males leading to immobility and death in early adulthood
Our study showed that extracellular volume (ECV) is elevated in DMD carriers; and that late gadolinium enhancement (LGE) is associated with left ventricular function (LVF) and shorter distances covered during the Six-minute walk test (6MWT)
We found a statistically significant difference in cardiovascular and musculoskeletal parameters such as contraction of the distance walked during the 6MWT and higher blood levels of CK and creatine-kinase MB (CK-MB), as well as a trend towards higher pro-Brain natriuretic peptide (BNP) levels and higher New York Heart Association (NYHA) class in the presence of LGE
Summary
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that occurs in males leading to immobility and death in early adulthood. Duchenne Muscular Dystrophy (DMD) is an X-linked recessive myodegenerative disease that is manifest in males from early childhood onwards [1, 2] owing to the absence or vast reduction of dystrophin. Myocardial involvement in carriers is clinically more relevant than in DMD patients: in 10 % of all carriers heart failure in the absence of skeletal muscle involvement is detected [4, 5], as compared to 1–2 % in the general population [6]. Dystrophy of cardiomyocytes precedes the onset of clinical symptoms the result being that signs of cardiomyopathy (CMP) only come to the fore after significant cardiac function impairment has been confirmed. Standard medical treatment for heart failure has been successfully implemented in DMD patients [7,8,9], whereas data on the effectiveness of the same medication in DMD carriers are insufficient
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