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Muscle Nerve. 2017 Jun;55(6):810-818. doi: 10.1002/mus.25445. Epub 2017 Feb 15.

Cardiac involvement in female carriers of duchenne or becker muscular dystrophy.

Author information

1
The John Walton, Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
2
Department of Cardiology, Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust, NE7 7DN, United Kingdom.

Abstract

INTRODUCTION:

The significance of abnormal cardiac measures in asymptomatic females who harbor dystrophin gene mutations is controversial.

METHODS:

Echo-measures of ventricular function were compared with published norms in a cross-sectional study of 130 (age, 39 ± 15.7 years) "carriers" of Duchenne or Becker muscular dystrophy (DMD/BMD). Correlations between cardiomyopathy (CM) and mutation, creatine kinase (CK) levels, age, and muscle symptoms were investigated.

RESULTS:

Depending on definition, CM prevalence was 3-33%. Ejection fraction (Simpson method) was < 55% in 9 (13%) and < 40% in 2 (2.9%). Eleven (8.5%) had wall motion abnormalities. Left ventricular end-systolic dimensions were increased in 7 (5.7%) and end-diastolic in 17 (13.9%). CM did not correlate with mutation type, DMD or BMD phenotype, CK level, muscle symptoms, or age.

CONCLUSIONS:

Occult CM can be found by screening in DMD/BMD carriers. Its lack of age-correlation suggests that not all abnormalities progress. Optimum screening schedules require a better understanding of progressive CM. Muscle Nerve 55: 810-818, 2017.

KEYWORDS:

Xp-21 mutation-carriers; cardiomyopathy; dystrophinopathy; echocardiography; prognosis; screening

PMID:
27761893
DOI:
10.1002/mus.25445
[Indexed for MEDLINE]

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