DISEASE SCANNER
Global Incurable Diseases Tracker
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Cardiac Disease
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D)
HIGH SEVERITY
A progressive cardiomyopathy characterized by fibrofatty replacement of the myocardium, predominantly affecting the right ventricle. Major cause of sudden cardiac death in young athletes, especially in Mediterranean populations.
Global Affected
2.0M
Countries
17
Symptoms
Palpitations
Syncope
Sudden cardiac death
Dyspnea
Chest pain
Fatigue
Often asymptomatic
Right heart failure
Treatment Options
ICD (first-line for sustained VT)
Beta-blockers
Antiarrhythmic drugs
Catheter ablation
Cardiac sympathetic denervation
Heart transplantation
Exercise restriction
Risk Factors
1Desmosomal gene mutations (PKP2, DSP)
2Autosomal dominant inheritance
3Male gender
4Intense endurance exercise
5Family history
Diagnostic Methods
- 1ECG
- 2Echocardiogram
- 3Cardiac MRI
- 4Signal-averaged ECG
- 5Electrophysiology study
- 6Endomyocardial biopsy
- 7Genetic testing
Prognosis
Variable; 20-year mortality 40% without ICD. ICD reduces sudden death. Progressive heart failure in 10-20%.
Prevention
- Genetic counseling
- Family screening
- ICD implantation
- Exercise restriction
- Avoidance of competitive sports
Research Status
ICD (first-line for sustained VT) and Beta-blockers are primary treatments. Research focuses on improved therapies and outcomes.
Affected Countries
Sources
- https://www.heart.org/en/health-topics/cardiomyopathy
- https://www.ncbi.nlm.nih.gov/books/NBK1131
- 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.