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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
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Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published

Gaspar Del Rio-Pertuz1, Cristina Morataya2, Kanak Parmar2

  • 1Department of Internal Medicine, Texas Tech University Health Sciences Center, 3601 4th St, Lubbock, TX, 79430, USA. gaspar.del-rio-pertuz@ttuhsc.edu.

Orphanet Journal of Rare Diseases
|May 13, 2022
PubMed

Insights

Becker muscular dystrophy can initially present as dilated cardiomyopathy in adult males, often with heart failure symptoms. Musculoskeletal issues may appear years later, sometimes subclinically.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Becker muscular dystrophy (BMD) is a rare genetic disorder.
  • Dilated cardiomyopathy (DCM) is a common cardiac manifestation of BMD.
  • Limited data exists on adult BMD presenting initially with DCM.

Purpose of the Study:

  • To review the presentation and outcomes of adult patients with idiopathic DCM who were later diagnosed with BMD.
  • To highlight DCM as a potential initial manifestation of BMD in adults.

Main Methods:

  • Systematic literature review.
  • Databases searched: Medline, Embase, Cochrane, Scopus.
  • Inclusion criteria: Adults with idiopathic DCM subsequently diagnosed with BMD.

Main Results:

  • Six adult male cases (median age 26 years) identified.
  • Initial presentation: DCM with congestive heart failure (83%).
  • Median ejection fraction: 23%. Musculoskeletal symptoms appeared 1-6 years later, sometimes subclinical.
  • Management: Heart transplantation (67%), LVAD bridge to transplant (1 case).

Conclusions:

  • Dilated cardiomyopathy can be the initial presentation of Becker muscular dystrophy in adults (3rd-4th decades).
  • Musculoskeletal symptoms may be subclinical or delayed.
  • Early recognition of BMD is crucial in adult idiopathic DCM.

Keywords:
Becker muscular dystrophyDilated cardiomyopathyHeart failureSystematic review

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