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Varied detection methods have resulted in conflicting reports on the prevalence of cardiac disease in Duchenne and Becker muscular dystrophy carriers (MDC).We performed a prospective cohort study of 77 genetically-confirmed MDC mothers, 22 non-carrier mothers, and 25 controls. All participants underwent Cardiopulmonary Exercise Testing (CPET) and Cardiac Magnetic Resonance imaging (CMR).25% of carriers had ventricular ectopy in recovery of exercise (RecVE) as compared to 1 non-carrier and no controls (p = .003). No difference in age or maximal oxygen consumption was noted. 11 carriers had abnormal (55%) left ventricular ejection fraction by CMR. Evidence of late gadolinium enhancement (LGE) was noted in 48% of MDC, 1 non-carrier patient and no control subjects (p .0001). Subset analysis of LGE+ and LGE- subjects revealed differences in age (44.1 v 38.6 yrs.; p = .005), presence of RecVE, (38.9% v 10.5%, p = .004), and high serum creatine kinase (CK) (289 U/l; 52.8% v 31.6%, p = .065).We describe the prevalence of disease using CPET and CMR in genetically-proven MDC. 49% of carriers had fibrosis, opposed to 5% of non-carriers, highlighting the importance of genetic testing in this population. Despite cardiomyopathy, functional assessment by treadmill was normal, illustrating the discrepancy in cardiac and skeletal muscle impacts. Age, RecVE and serum CK appear to have an important role in predicting cardiomyopathy. Serum CK levels suggest that a systemic higher global disease severity and not tissue heterogeneity may be the etiology for greater cardiac disease and relatively spared skeletal muscle disease in this population. Clinical Trial Registration https://clinicaltrials.gov/ct2/show/NCT02972580?term=mendellcond=Duchenne+Muscular+Dystrophyrank=5; ClinicalTrials.gov Identifier: NCT02972580.

Adults with a Fontan palliation are known to have Fontan-associated liver disease (FALD). Traditional markers of liver dysfunction, however, have not correlated with the degree of FALD. Based upon the role of the liver in glucose homeostasis, we sought to determine if insulin sensitivity may be a

Lack of defined parameters and varied detection methods have resulted in a broad range of predictions on the prevalence of cardiac disease in carriers of Duchenne and Becker muscular dystrophy (DMD and BMD). Prior studies have been small retrospective samples without genotype confirmation. No study

We report a case of outflow tract ventricular septal defect (VSD) manifesting in adulthood with aortic and pulmonary valve infective endocarditis (IE) from Gemella morbillorum. A 33-year-old male presented with fever, night sweats, fatigue, and dyspnea for 4 months. Exam showed a loud to-and-fro