Arrythmogenic right ventricular dysplasia, familial

Arrhythmogenic Right Ventricular Dysplasia, Familial

Arrhythmogenic Right Ventricular Dysplasia (ARVD), also known as Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), is a rare genetic disorder that affects the heart muscle. It is characterized by the replacement of myocardial tissue with fibrofatty tissue, predominantly in the right ventricle, leading to arrhythmias and an increased risk of sudden cardiac death. Familial ARVD indicates that the condition is inherited and can affect multiple members of a family.

Pathophysiology

ARVD is primarily a disease of the desmosomes, which are structures that hold cardiac muscle cells together. Mutations in genes encoding desmosomal proteins, such as plakoglobin, desmoplakin, plakophilin-2, and others, lead to the weakening of cell adhesion. This results in the progressive replacement of cardiac muscle with fibrofatty tissue, particularly in the right ventricle. The structural changes disrupt the electrical pathways of the heart, causing arrhythmias.

Clinical Presentation

Patients with ARVD may present with a variety of symptoms, including:

• Palpitations
• Syncope (fainting)
• Ventricular tachycardia
• Sudden cardiac arrest

The condition often manifests in young adults and athletes, who may experience symptoms during physical exertion.

Diagnosis

The diagnosis of ARVD is based on a combination of clinical criteria, including:

• Family history of ARVD or sudden cardiac death
• Electrocardiogram (ECG) abnormalities, such as T-wave inversions in the right precordial leads
• Echocardiography or cardiac MRI showing structural changes in the right ventricle
• Genetic testing for known mutations associated with ARVD

Management

Management of ARVD focuses on preventing arrhythmias and sudden cardiac death. Treatment options include:

• Lifestyle modifications, such as avoiding competitive sports
• Antiarrhythmic medications
• Implantable cardioverter-defibrillators (ICDs) for patients at high risk of sudden cardiac death
• Catheter ablation to treat arrhythmias

Prognosis

The prognosis of ARVD varies depending on the severity of the disease and the effectiveness of treatment. Early diagnosis and management are crucial in reducing the risk of sudden cardiac death.

Genetic Counseling

Since ARVD is a genetic disorder, genetic counseling is recommended for affected families. Family members may undergo genetic testing to determine their risk of developing the condition.

Also see

• Cardiomyopathy
• Sudden cardiac death
• Electrocardiogram
• Genetic testing

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• Ventricular aneurysm
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