Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Overview:

ARVC is a form of inherited cardiovascular disease that may present with syncope or sudden cardiac death (SCD). It is generally regarded as the second most common cause of sudden cardiac death in young people, following hypertrophic obstructive cardiomyopathy (HOCM).

Pathophysiology:

• Inherited in an autosomal dominant pattern with variable expression.
• Characterized by the replacement of right ventricular myocardium with fibrofatty tissue.

Clinical Presentation:

• Palpitations
• Syncope
• Sudden cardiac death

Investigations:

• Electrocardiogram (ECG): Abnormalities in leads V1-V3, typically featuring T wave inversion. An epsilon wave is found in about 50% of individuals with ARVC, described as a terminal notch at the end of the QRS complex.
• Echocardiogram: Changes may be subtle in early stages but may show an enlarged, hypokinetic right ventricle with a thin free wall.
• Magnetic Resonance Imaging (MRI): Useful for visualizing fibrofatty tissue.

Management:

• Beta-blockers: Sotalol is the most widely used antiarrhythmic.
• Catheter ablation: To prevent ventricular tachycardia.
• Implantable cardioverter-defibrillator (ICD): For high-risk patients.

Note on Naxos Disease:

An autosomal recessive variant of ARVC characterized by a triad of ARVC, palmo-plantar keratosis, and woolly hair.

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Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Overview:

CPVT is another form of inherited cardiac disease associated with sudden cardiac death. It is inherited in an autosomal dominant fashion and has a prevalence of around 1 in 10,000.

Pathophysiology:

The most common cause is a defect in the ryanodine receptor (RYR2) located in the myocardial sarcoplasmic reticulum.

Clinical Features:

• Exercise or emotion-induced polymorphic ventricular tachycardia leading to syncope.
• Risk of sudden cardiac death.
• Symptoms generally develop before the age of 20 years.

Management:

• Beta-blockers: First-line treatment.
• Implantable cardioverter-defibrillator (ICD): For patients at high risk of life-threatening arrhythmias.

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Conclusion

Both ARVC and CPVT are significant inherited cardiac conditions that can lead to serious outcomes, including sudden cardiac death. Awareness and early detection are critical for effective management and prevention strategies.

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