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Cardiac phenotype determines survival in Duchenne muscular dystrophy
Author(s) -
Birnkrant David J.,
Ararat Erhan,
Mhanna Maroun J.
Publication year - 2016
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.23215
Subject(s) - medicine , duchenne muscular dystrophy , ejection fraction , cardiomyopathy , heart failure , pulmonary function testing , dilated cardiomyopathy , cardiac function curve , retrospective cohort study , cardiology , muscular dystrophy , mechanical ventilation , vital capacity , lung , lung function , diffusing capacity
Summary Objective To identify determinants of survival by comparing cardiopulmonary function in two patient groups: prolonged survivors of Duchenne muscular dystrophy (DMD) versus DMD patients who experienced early death (ED). Methods Retrospective chart review of our DMD patients from 1999 to 2013. Prolonged Survival (PS) was defined as alive and ≥30 years old. Early death (ED) was defined as death at < 30 years old. Exclusion criteria: steroid therapy. Results Eleven patients met criteria for PS and 14 patients for ED (mean age ± SD: 34.3 ± 4.3 years vs. 21.7 ± 3.8 years, respectively; P < 0.001). Pulmonary function was better in the ED patients: all PS patients had a vital capacity of 0 ml (n = 11) versus 23% (3/13) of the ED patients ( P < 0.001). Thirteen of 14 ED patients and all PS patients received assisted ventilation. Heart function was worse in the ED patients: ejection fraction (EF) was 42.2 ± 14.2% in the PS patients (n = 11) versus 29.2 ± 14.1% in the ED patients (n = 13; P = 0.035). Dilated cardiomyopathy was present in 36% (4/11) of PS patients versus 78% (11/14) of ED patients ( P =0.048). Among ED patients, 57% (8/14) died from progressive cardiomyopathy. Conclusion In our study group, good heart function was a pre‐condition for PS and poor heart function was the primary cause of early death. Our results suggest that, when DMD patients are treated with assisted ventilation, heart function is the main determinant of their survival. Pediatr Pulmonol. 2016;51:70–76. © 2015 Wiley Periodicals, Inc.