Duchenne Muscular Dystrophy: Cardiac Management

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Duchenne Muscular DystrophyCardiac Management
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Introduction

• Aim early detection and treatment of
  deterioration in heart muscle function
• Cardiac disease most often manifests as
• Cardiomyopathy and/or
• Cardiac arrhythmia
• Progressive cardiomyopathy a major source of
  DMD/BMD morbidity warrants further study
• Clear onset of disease in myocardium before
  clinical symptoms
• Surveillance and proactive management are key a
  cardiologist must be in the care team
• Family should have a copy of the latest
  assessments to show attending doctors

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Surveillance Baselines

• Baseline evaluation of cardiac function at
  diagnosis or by 6 years at the latest, especially
  if possible without sedation
• Clinical judgement should be used for patients
  under 6 requiring sedation
• Incidence of echocardiograph abnormalities is low
  in children under 8-10 years, but where they do
  exist can affect clinical decision-making
• Baseline echocardiogram also allows for screening
  for anatomical abnormalities(e.g.
  atrial/ventricular septal defects, patent ductus
  arteriosis) which may affect long-term
  cardiovascular function
• Minimal evaluation should include, but is not
  limited to, and electrocardiogram (ECG) and
  echocardiogram

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Surveillance Annual Evaluation

• Evaluation at least once every 2 years to the age
  of 10.
• Annual complete cardiac assessments should begin
  at 10, or at onset of cardiac signs or symptoms
  if these occur earlier
• Increased surveillance (at least every 6 months)
  required if non-invasive cardiac tests show
  abnormalities of ventricular function.
• Drug treatment should be initiated, irrespective
  of the age at which they are detected

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Treatment

• First-line therapy angiotension converting
  enzyme (ACE) inhibitors
• Beta-blockers and diuretics also appropriate, and
  should follow published guidelines for management
  of heart failure
• Recent clinical trial evidence supports the
  prophylactic treatment of cardiomyopathy with ACE
  inhibitors prior to signs of abnormal
  functioning further studies awaited to allow
  firm recommendations.

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Abnormalities (1)

• Abnormalities of cardiac rhythm should be
  promptly investigated with Holder or event
  monitor recording, and should be treated
• Sinus tachycardia is common in DMD, but also
  noted in systolic dysfunction.
• New onset in absence of clear cause should prompt
  assessment including that of left-ventricular
  function
• Those on steroids need additional cardiovascular
  attention, especially for hypertension which may
  necessitate an adjustment of steroid dose TLN
  table 2 part 1

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Abnormalities (2)

• Systemic arterial hypertension should be treated
• Prevention of systemic thromboembolic events by
  anticoagulation therapy can be considered in
  severe cardiac dysfunction, but inappropriate in
  earlier cardiac dysfunction
• Usefulness of internal cardiac defibrillator not
  established
• With generally improved fitness of DMD patients,
  cardiac transplants may require consideration in
  future

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References Resources

• The Diagnosis and Management of Duchenne Muscular
  Dystrophy, Bushby K et al, Lancet Neurology 2010
  9 (1) 77-93 Lancet Neurology 2010 9 (2) 177-189
• Particularly references, p186-188
• The Diagnosis and Management of Duchenne Muscular
  Dystrophy A Guide for Families
• TREAT-NMD website www.treat-nmd.eu
• CARE-NMD website www.care-nmd.eu