Left Ventricular Dysfunction in Duchenne Muscular Dystrophy and Genotype

Mahi L Ashwath; Irwin B Jacobs; Carol A Crowe; Ravi C Ashwath; Dennis M Super; Robert C Bahler

doi:10.1016/j.amjcard.2014.04.038

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Left Ventricular Dysfunction in Duchenne Muscular Dystrophy and Genotype

Journal article

Peer reviewed

Left Ventricular Dysfunction in Duchenne Muscular Dystrophy and Genotype

Mahi L Ashwath, Irwin B Jacobs, Carol A Crowe, Ravi C Ashwath, Dennis M Super and Robert C Bahler

The American journal of cardiology, Vol.114(2), pp.284-289

07/15/2014

DOI: 10.1016/j.amjcard.2014.04.038

PMCID: PMC4768789

PMID: 24878125

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http://doi.org/10.1016/j.amjcard.2014.04.038View

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Abstract

Prognosis in patients with Duchenne muscular dystrophy (DMD) is guarded, and most deaths are due to cardiac or respiratory causes. It is unclear if some DMD gene mutations might be predictive of either mild or severe cardiac dysfunction. We studied 75 patients with DMD followed at our institution. Cardiac function, as assessed by yearly echocardiography, showed marked variability in left ventricular (LV) function. Some patients in their 3rd decade had no or minimal dysfunction, whereas others in their 2nd decade had very severe dysfunction. Therefore, 4 severity groups were defined ranging from no or mild LV dysfunction to severe LV dysfunction using patient age at first abnormal echocardiographic finding and degree of LV dysfunction. Genetic data were collected for all patients. Most patients had mutations from exon 1 to 20 to exon 41 to 55. The distribution of the 4 severity groups of LV dysfunction did not significantly differ between these 2 mutation groups. An analysis based on the number of exons involved (<5 vs ≥5 exons) also found no significant difference in cardiac severity. When patients having identical mutations were compared with their cardiac course, concordance was often not evident. Steroid therapy had no apparent protection for the development of cardiomyopathy. In conclusion, 75 patients with DMD showed marked variability in the severity of LV dysfunction. Neither the age of onset nor the severity of cardiomyopathy correlated with any of the mutation groups.

Details

Title: Subtitle: Left Ventricular Dysfunction in Duchenne Muscular Dystrophy and Genotype
Creators: Mahi L Ashwath - MetroHealth Medical Center, Departments of Medicine and Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio
Irwin B Jacobs - MetroHealth Medical Center, Departments of Medicine and Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio
Carol A Crowe - MetroHealth Medical Center, Departments of Medicine and Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio
Ravi C Ashwath - Rainbow Babies and Childrens Hospital, Departments of Medicine and Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio
Dennis M Super - MetroHealth Medical Center, Departments of Medicine and Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio
Robert C Bahler - MetroHealth Medical Center, Departments of Medicine and Pediatrics, Case Western Reserve University School of Medicine, Cleveland, Ohio
Resource Type: Journal article
Publication Details: The American journal of cardiology, Vol.114(2), pp.284-289
DOI: 10.1016/j.amjcard.2014.04.038
PMID: 24878125
PMCID: PMC4768789
NLM abbreviation: Am J Cardiol
ISSN: 0002-9149
eISSN: 1879-1913
Publisher: Elsevier Inc
Grant note: UL1 RR024989 / National Center for Research Resources (http://dx.doi.org/10.13039/100000097)
Language: English
Date published: 07/15/2014
Academic Unit: Radiology; Stead Family Department of Pediatrics; Cardiovascular Medicine; Internal Medicine
Record Identifier: 9984093355402771

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