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 journalArticle

28 Citations (Scopus)

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 - 2010

Fingerprint

Muscular Dystrophies
Dilated Cardiomyopathy
Hypertrophic Cardiomyopathy
Laminin
Heart Diseases
Walker-Warburg Syndrome
Limb-Girdle Muscular Dystrophies
Integrins
Cardiac Arrhythmias
Fibrosis
Thorax
Mutation

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Finsterer, J., Ramaciotti, C., Wang, C. H., Wahbi, K., Rosenthal, D., Duboc, D., & Melacini, P. (2010). Cardiac findings in congenital muscular dystrophies. Pediatrics, 126(3), 538-545. https://doi.org/10.1542/peds.2010-0208

Cardiac findings in congenital muscular dystrophies. / Finsterer, Josef; Ramaciotti, Claudio; Wang, Ching H.; Wahbi, Karim; Rosenthal, David; Duboc, Denis; Melacini, Paola.

In: Pediatrics, Vol. 126, No. 3, 2010, p. 538-545.

Research output: Contribution to journalArticle

Finsterer, J, Ramaciotti, C, Wang, CH, Wahbi, K, Rosenthal, D, Duboc, D & Melacini, P 2010, 'Cardiac findings in congenital muscular dystrophies', Pediatrics, vol. 126, no. 3, pp. 538-545. https://doi.org/10.1542/peds.2010-0208
Finsterer J, Ramaciotti C, Wang CH, Wahbi K, Rosenthal D, Duboc D et al. Cardiac findings in congenital muscular dystrophies. Pediatrics. 2010;126(3):538-545. https://doi.org/10.1542/peds.2010-0208
Finsterer, Josef ; Ramaciotti, Claudio ; Wang, Ching H. ; Wahbi, Karim ; Rosenthal, David ; Duboc, Denis ; Melacini, Paola. / Cardiac findings in congenital muscular dystrophies. In: Pediatrics. 2010 ; Vol. 126, No. 3. pp. 538-545.
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