Cardiac and pulmonary function variability in Duchenne/Becker muscular dystrophy: an initial report.
The Duchenne and Becker forms of muscular dystrophy are associated with dilated cardiomyopathy and are diseases in which pulmonary function peaks and then progressively declines. In this report, the authors quantify cardiopulmonary function variability among brothers. Brothers in 3 of 7 eligible sibships had discordant pulmonary function, with significant differences between the brothers' peak forced vital capacities and their vital capacities at last comparable age. There was no relationship between pulmonary and cardiac function among the siblings. The authors concluded that despite identical genetic mutations, cardiac and pulmonary function variability was common among brothers in their clinic with Duchenne or Becker muscular dystrophy. If confirmed by larger studies, these results have negative implications for the use of genetic testing to predict cardiopulmonary course and response to therapies in Duchenne or Becker muscular dystrophy.
Birnkrant
David J
DJ
Department of Pediatrics, Division of Pulmonology, MetroHealth Medical Center and Case Western Reserve University School of Medicine, Cleveland, OH 44109, USA. dbirnkrant@metrohealth.org
Ashwath
Mahi Lakshmi
ML
Noritz
Garey H
GH
Merrill
Michelle C
MC
Shah
Tushar A
TA
Crowe
Carol A
CA
Bahler
Robert C
RC
D000293:Adolescent; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D018450:Disease Progression; D005838:Genotype; D006334:Heart Function Tests / Q000379:methods; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D012129:Respiratory Function Tests / Q000379:methods; D012133:Respiratory Paralysis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D012189:Retrospective Studies