Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritable disorder that causes replacement of the ventricular myocardium with fibrofatty tissue that is more predisposed to the development of arrhythmias. This mainly occurs in the left ventricles sub-endocardial muscles. It is a genetic disease inherited in an autosomal dominant fashion with variable penetrance. These mutations trigger inflammation of the myocardial cells and destroy desmosomal proteins.
Clinical and Pathologic Features of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
The fibrous and fatty tissue that occupies the ventricles is highly arrhythmogenic and thus patients are at risk of ventricular tachycardia that evolves into left bundle branch block. The disease may slowly progress leading to a presentation with heart failure symptoms such as tachycardia, difficulty in breathing and generalized edema. It may also progress rapidly to presents as a sudden cardiac death.
Arrhythmogenic Right Ventricular Cardiomyopathy Treatment Guidelines
Current interventional strategies are largely of palliative intent as curative strategies require reversal/replacement of the genetic mutation and the resultant desmosomal change which is impossible with the available technology. The most important goals of therapy thus will include morbidity and mortality control, control of heart failure symptoms that improves the quality of life of the patient and functional capacity of the heart.
These goals can be achieved via the following modalities:
Lifestyle Modification
This is the first line method of management of ARVC since the disease is associated with strenuous exercises. Competitive exercises are thus avoided in patients with a family history of the disease and any other history that may suggest early occurrence of the disease. It is effective as long as the patient is asymptomatic and can be used concurrently with other methods of management in advanced cases of the disease.
Exercises encourage dilatation and dysfunction of the heart chambers worsening the functions of the diseased heart.
Pharmacological Treatment
It is the second line therapy for the disease and entails medicines in various groups most important being anti-arrhythmic drugs such as amiodarone that function to control ventricular tachycardia and other abnormal rhythms that may arise.
Other drugs include β-blocker agents that have an anti-arrhythmic property as they reduce the end diastolic filling time and regulate the rate of the heart. They are most important in the event of an unanticipated exercise that may trigger sudden cardiac death.
Heart failure drugs are used to control symptoms and include preload reducing drugs such as diuretics that prevent further left ventricular enlargement and anti-thrombogenic therapy.
Invasive Treatment
This is the method of choice for patients whose arrhythmias are refractory to pharmacological treatment. Catheter ablation using endocardial catheters with radiofrequency currents has been used with some effectiveness.
Implantable cardioverter-defibrillator devices (ICD) are superior implants that are inserted in individuals with a history of cardiac arrest, a family history of sudden cardiac death or refractory arrhythmias. The devices interrupt lethal ventricular arrhythmias by cardioversion.
Heart transplantation is the last resort after drugs and implantable devices have failed. It is indicated for patients with uncontrollable heart failure symptoms especially if of a young age.
Conclusion:
In summary, arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritable disease which has no cure. It may present with features of heart failure after slowly progressing for years or as sudden cardiac death. Morbidity and mortality of the disease is secondary to arrhythmias, left bundle branch blocks and heart failure all which occur in the setting of failing treatment. Therapeutic interventions to control the progression are of palliative intent and range from lifestyle modification for asymptomatic disease, pharmacological therapy for mild disease, device therapy for moderate disease and heart transplant for intractable disease.
Also Read:
