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. Author manuscript; available in PMC: 2015 Sep 1.
Published in final edited form as: Circ Heart Fail. 2014 Sep;7(5):843–849. doi: 10.1161/CIRCHEARTFAILURE.114.001105

Table 2.

Suggested Treatment Guidelines for Danon Disease Manifestations.

Manifestations Diagnostic Testing* Recommended Treatment
Cardiomyopathy

  • - Echocardiography at least every 1–2 years (more frequent as cardiac structural changes and symptoms progress or for clinical change)

  • - Cardiac magnetic resonance with delayed contrast enhancement: consider in place of echocardiography to assess extent of fibrosis

  • - ECG at least annually

  • - Holter/Event Monitor: if arrhythmia symptoms are present or to risk stratify for risk of sudden cardiac death

  • - Serum BNP: consider baseline measure as well as for clinical change
  • - Standard treatment approaches for heart failure, including:
    • * Meticulous volume/fluid management, with avoidance of dehydration or overdiuresis
    • * Reliance on hypertrophic cardiomyopathy guidelines for patients with hypertrophy but preserved LVEF
    • * Prompt consideration for cardiac transplantation in patients with progressive symptoms or significant decrease in LVEF

  • - Early involvement of electrophysiology and early consideration of ICD implantation for symptomatic arrhythmias
Skeletal myopathy

  • - Formal neuromuscular evaluation

  • - Muscle biopsy may be performed as part of diagnostic workup

  • - Physical therapy and rehabilitation
Intellectual Disability

  • - Neuropsychological evaluation, at baseline and for clinical changes

  • - Educational interventions as needed based on deficits

  • - Enrollment in rehabilitation center for educational, psychological, and social support
Ocular Disease

  • - Formal eye examination

  • - Ophthalmologic referral for evidence of ocular disease
Genetic

  • - Genetic testing of LAMP2 gene and cascade testing of at-risk relatives

  • - Genetic counseling, including reproductive risk counseling
*

This table is intended as a basic guide, and is by no means complete or definitive. Suggested frequencies of evaluations are provided for reference and should be adjusted on the basis of individual patient symptoms and disease progression.

†

ECG = electrocardiogram; BNP = brain natriuretic peptide; LVEF = left ventricular ejection fraction; ICD = implantable cardioverter-defibrillator