Cardiac findings in congenital muscular dystrophies

Josef Finsterer, Claudio Ramaciotti, Ching H. Wang, Karim Wahbi, David Rosenthal, Denis Duboc, Paola Melacini

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations

Abstract

Cardiac involvement (CI) in congenital muscular dystrophies (CMDs) has been only rarely investigated so far. By means of a systematic literature search we reviewed the literature about CI in CMD and found that CI is apparently absent in Ullrich CMD or CMD with integrin defi-ciency and only mild in Bethlem CMD. CI in merosin deficiency includes dilated cardiomyopathy and systolic dysfunction. CI in dystroglycanopathies seems most prevalent among all CMDs and includes dilated cardiomyopathy, systolic dysfunction, and myocardial fibrosis in Fukuyama CMD. Among the nonspecified dystroglycanopathies, CI manifests as dilated cardiomyopathy, hypertrophic cardiomyopathy (CMP) or systolic dysfunction. With CMD type 1C, as well as with limb-girdle muscular dystrophy 2I, up to half of the patients develop dilated cardiomyopathy. In rigid-spine syndrome, predominantly the right heart is affected secondary to thoracic deformity. In patients who carry LMNA mutations, CI may manifest as dilated cardiomyopathy, hypertrophic cardiomyopathy, or fatal ventricular arrhythmias. Overall, CI in patients with CMD varies considerably between the different CMD types from absent or mild CI to severe cardiac disease, particularly in merosin deficiency, dystroglycanopathies, and laminopathies. Patients with CMD with CI require regular cardiologic surveillance so that severe, treatable cardiac disease is not overlooked.

Original languageEnglish (US)
Pages (from-to)538-545
Number of pages8
JournalPediatrics
Volume126
Issue number3
DOIs
StatePublished - Sep 2010

Keywords

  • Arrhythmias
  • Cardiac disease
  • Cardiomyopathy
  • Congenital disease
  • Congenital muscular dystrophy
  • Genetics
  • Heart failure
  • Neuromuscular disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Cardiac findings in congenital muscular dystrophies'. Together they form a unique fingerprint.

Cite this