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Scientific Articles

Cardiopulmonary Phenotypic Discordance is Common in Duchenne Muscular Dystrophy

key information

source: Pediatric Pulmonology

year: 2019

authors: Jin JB, Carter JC, Sheehan DW, Birnkrant DJ

summary/abstract:

Objective:

To determine the prevalence of discordant cardiopulmonary function among patients with Duchenne muscular dystrophy (DMD) in our clinic.

Methods:

Retrospective chart review from 1999 to 2017.

Inclusion Criteria:

DMD patients age > 18 years, alive, with discordant cardiopulmonary function. No patients received glucocorticoid therapy. Discordant cardiopulmonary function was defined as either: good heart function (EF > 40%) and bad lung function (FVC < 1 L) (Group A); or, bad heart function (EF < 40%) and good lung function (FVC > 1 L) (Group B).

 

Results:

Among 74 eligible patients, 25 patients (34%) had discordant cardiopulmonary function (21 patients in Group A and 4 patients in Group B). Three dystrophin mutations were shared by >2 patients (nine patients with deletion of exon 44; three patients with deletion of exon 51; three patients with duplication of exon 2). Among the 15 patients with a shared genotype, eight patients (53%) had discordant cardiopulmonary function (five patients in group A, three patients in group B). Twenty-six patients had a deletion involving or distal to exon 45. Ten of these patients (38%) had discordant cardiopulmonary function (eight patients in Group A, two patients in Group B).

Conclusion:

In our cohort of DMD patients, discordant cardiopulmonary function was common (present in one-third of our patients), and the dystrophin genotype did not reliably predict a patient’s cardiopulmonary phenotype. If confirmed by larger, multi-center studies, our findings have significant implications for predicting patient prognosis, evaluating DMD therapies, and designing new DMD therapies.

organization: MetroHealth Medical Center, USA; Case Western Reserve University School of Medicine, USA; University at Buffalo, USA

DOI: 10.1002/ppul.24205

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