Formerly called arrhythmogenic right ventricular dysplasia.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterised by:

• Progressive fibro-fatty replacement of right ventricular myocardium with progressive effects on the right ventricle
• A strong familial transmission
• Presentation with symptomatic arrhythmias or sudden death¹

The precise aetiology remains unknown.

There are separate articles which discuss Cardiomyopathies, Hypertrophic Cardiomyopathy, Dilated Cardiomyopathies and Restrictive Cardiomyopathy.

Epidemiology

• Most often it presents in adolescence and early adulthood.
• It is more common in males.
• It presents as familial disease in at least 30% of patients: autosomal dominant inheritance is typical.²

Clinical presentation

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is emerging as a syndrome consisting of multiple discrete disease entities.³ Features also depend on the phase of disease progression:

• Concealed phase:
  • Subtle right ventricular changes, with or without minor ventricular arrhythmias.
  • These may occasionally be the first manifestation as sudden death, usually in the young engaged in competitive sports or intense exercise.
• Overt electrical disorder:
  • Symptomatic right ventricular arrhythmias associated with functional and structural abnormalities of the right ventricle.
  • Usually presents with palpitations or syncope.
  • Arrhythmias and sudden death are common. Previously undiagnosed ARVC accounts for about 20% of cardiac sudden deaths.
• Right ventricular failure:
  • Extension of disease to the whole of the right ventricle causes dysfunction.
• Biventricular pump failure - end stage:
  • Left ventricular involvement leads to heart failure and may mimic dilated cardiomyopathy.

Investigations

A task force set up by the World Health Organization and the International Society and Federation of Cardiology has proposed diagnostic criteria in some detail.⁴

• Assessment of cardiac function and disease aetiology:
  • Blood tests, including full blood count, ESR/CRP, renal function and electrolytes, and liver function tests; cardiac enzymes may be appropriate, depending on presentation
  • ECG - the most common findings are ventricular arrhythmias with left bundle branch block (LBBB) morphology
  • Chest X-ray
  • Echocardiogram
  • Cardiac catheterisation
  • Cardiac MRI scan - right ventricular enlargement, fatty infiltration, fibrosis and wall motion abnormalities⁵
  • Heart biopsy
• Genetic assessment

Management

• For patients with well tolerated or non life-threatening ventricular arrhythmias, betablockers, such as sotalol, or amiodarone with/without betablocker, are the most effective drugs with a relatively low proarrhythmic risk.
• For sustained ventricular tachycardia (VT) or ventricular fibrillation (VF), serial therapeutic drug trials are used, using programmed ventricular stimulation to assess effectiveness.
• Patients who remain inducible of arrhythmias usually require an implantable cardioverter defibrillator (ICD), except for rare cases with localised disease where catheter ablation may be an option.
• Ablation can have up to a 90% success rate in the short-term, but a 60% recurrence rate which may lead to sudden death.
• In patients who are not inducible, and present in cardiac arrest or syncope, an automatic ICD is the first option, and is the most effective intervention in prevention of arrhythmic sudden death.⁶
• Treat associated heart failure.
• Heart transplantation may need to be considered in refractory cases in end-stage failure.

Prognosis

• Arrhythmogenic right ventricular dysplasia tends to be progressive with deterioration of right ventricular function.
• The left ventricle may become involved with progression of the degenerative process.
• The death rate is approximately 2.5% per year.⁷

Document references

1. Franz WM, Muller OJ, Katus HA; Cardiomyopathies: from genetics to the prospect of treatment. Lancet. 2001 Nov 10;358(9293):1627-37. [abstract]
2. Sen-Chowdhry S, Lowe MD, Sporton SC, et al; Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management. Am J Med. 2004 Nov 1;117(9):685-95. [abstract]
3. Ellinor PT, MacRae CA, Thierfelder L; Arrhythmogenic right ventricular cardiomyopathy. Heart Fail Clin. 2010 Apr;6(2):161-77. [abstract]
4. Corrado D, Basso C, Thiene G; Arrhythmogenic right ventricular cardiomyopathy: diagnosis, prognosis, and treatment. Heart. 2000 May;83(5):588-95.
5. Murphy DT, Shine SC, Cradock A, et al; Cardiac MRI in arrhythmogenic right ventricular cardiomyopathy. AJR Am J Roentgenol. 2010 Apr;194(4):W299-306. [abstract]
6. Arrhythmia - implantable cardioverter defibrillators, NICE Technology Appraisal (January 2006)
7. Pennell DJ et al; Arrhythmogenic right ventricular cardiomyopathy. European Society of Cardiology; E-Journal - Volume 1.

Internet and further reading

• OMIM; Arrhythmogenic Right Ventricular Dysplasia, Familial 1 (with links to other forms). Online Mendelian Inheritance in Man.
• The Cardiomyopathy Association

Acknowledgements