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Cardiac Phenotype-Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review

Huan Zhou1, Manli Fu1, Bing Mao2

  • 1Ultrasonography Department, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430030, China.

Pediatric Cardiology
|October 10, 2020
PubMed

Insights

Cardiac issues in Duchenne and Becker muscular dystrophies (DMD/BMD) are fatal. Specific gene mutations, particularly involving exons 45 and 46, may predict cardiac involvement in DMD/BMD patients.

Area of Science:

  • Genetics
  • Cardiology
  • Neuromuscular Disorders

Background:

  • Cardiac involvement is the leading cause of mortality in Duchenne and Becker muscular dystrophies (DMD/BMD).
  • The relationship between specific genetic mutations and cardiac disease in DMD/BMD remains incompletely understood.
  • Identifying genotype-phenotype correlations can aid in predicting and managing cardiac complications.

Purpose of the Study:

  • To comprehensively review and analyze genotype data related to cardiac disease in DMD/BMD patients.
  • To determine if specific mutations within the DMD/BMD gene are predictive of cardiac involvement.
  • To perform a meta-analysis on key genotype parameters associated with cardiac disease in DMD/BMD.

Main Methods:

  • Systematic literature search of PubMed/Medline, EMBASE, and Cochrane databases up to August 2019.
  • Inclusion of human studies in English language.
  • Meta-analysis of 18 selected studies involving 2661 DMD/BMD patients, with a focus on 1324 patients with cardiac disease.

Main Results:

  • Exon deletion was the most common mutation type, found in 90% of DMD/BMD patients (P < 0.01).
  • A higher frequency of exon 45 and 46 involvement was observed in DMD/BMD patients with cardiac dysfunction.
  • These findings suggest a potential predictive value for specific exon mutations regarding cardiac complications.

Conclusions:

  • Exon deletions are the predominant mutation type in DMD/BMD.
  • Involvement of exons 45 and 46 may serve as a predictive marker for cardiac disease in DMD/BMD patients.
  • Further research is warranted to confirm the predictive utility of these genotype-specific findings for cardiac outcomes.

Keywords:
Cardiac involvementDMD/BMDMeta-analysisPhenotype–genotype associations

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