DISEASE SCANNER

Global Incurable Diseases Tracker

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Cardiac Disease

Restrictive Cardiomyopathy (RCM)

HIGH SEVERITY

The least common cardiomyopathy characterized by stiff ventricles with impaired diastolic filling but preserved systolic function. Can be idiopathic, genetic, or secondary to infiltrative diseases (amyloidosis, sarcoidosis, hemochromatosis).

Global Affected

1.0M

Countries

18

Symptoms

Dyspnea
Exercise intolerance
Fatigue
Orthopnea
Peripheral edema
Ascites
Kussmaul sign
Right heart failure predominance

Treatment Options

Diuretics (careful)
Beta-blockers
Calcium channel blockers
Treatment of underlying cause
Heart transplantation
Anticoagulation
Pacemakers (conduction disease)
CRT

Risk Factors

1Amyloidosis
2Sarcoidosis
3Hemochromatosis
4Genetic mutations (DES, TNNI3)
5Radiation
6Chemotherapy
7Scleroderma
8Endomyocardial fibrosis (tropical)

Diagnostic Methods

  • 1Echocardiogram
  • 2Cardiac MRI
  • 3Cardiac catheterization
  • 4Endomyocardial biopsy
  • 5Serum free light chains
  • 6Technetium pyrophosphate scan
  • 7Genetic testing

Prognosis

Poor; 5-year survival ~50%. Better with treatable causes (hemochromatosis). Heart transplant may be needed.

Prevention

  • Early diagnosis of underlying conditions
  • Treatment of amyloidosis
  • Iron chelation (hemochromatosis)
  • Genetic counseling
  • Family screening

Research Status

Diuretics (careful) and Beta-blockers are primary treatments. Research focuses on improved therapies and outcomes.

Sources

  • https://www.heart.org/en/health-topics/cardiomyopathy
  • https://www.ncbi.nlm.nih.gov/books/NBK459288
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.