Cardiopulmonary phenotypic discordance is common in Duchenne muscular dystrophy

Justin B. Jin, John C. Carter, Daniel W. Sheehan, David J. Birnkrant*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)186-193
Number of pages8
JournalPediatric Pulmonology
Volume54
Issue number2
DOIs
StatePublished - Feb 2019

Keywords

  • cardiomyopathy
  • Duchenne muscular dystrophy
  • genetic therapies
  • genotype
  • phenotype
  • pulmonary function

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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