What are the recommendations for cardiac evaluation in patients with congenital muscular dystrophy?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Answer

The AAN/AANEM guidelines recommend referral, regardless of subtype, for a baseline cardiac evaluation. The schedule for further evaluations should depend on the results of the baseline evaluation and the subtype-specific diagnosis (level B). [77]

The International Standard of Care Committee consensus recommendations include the following [76] :

  • All patients with congenital muscular dystrophies should undergo cardiac screening beginning at diagnosis
  • The initial evaluation can help with diagnosis of the type of CMD, provides reference values for follow-up, and assists follow-up planning
  • The frequency of follow-up depends on the presence of cardiac risk factors such as diagnosis of laminopathy or dystroglycanopathy, cardiac symptoms, and abnormal previous cardiac tests
  • In patients with laminopathies or dystroglycanopathies, cardiac examinations should be performed at least every year, and at least every 6 months in patients with symptoms, conductive abnormalities, or myocardial involvement
  • In patients with other CMDs, follow-up should be performed at least every 2 years in asymptomatic patients and at least every year in patients with cardiac symptoms
  • ECG and echocardiography are simple examinations and provide enough information in the majority of patients
  • Twenty-four-hour ambulatory electrocardiogram should be considered in patients with laminopathies in order to detect paroxysmal conductive defects and arrhythmias
  • Isotopic ventriculography can be useful to assess ventricular function in patients with poor echogenicity due to thoracic deformations
  • Cardiac MRI could be useful in patients with laminopathies

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