BASIC AND CLINICAL INSIGHTS IN CATECHOLAMINERGIC (FAMILIAL) POLYMORPHIC VENTRICULAR TACHYCARDIA.

Area of Science:

• Cardiology
• Genetics
• Molecular Biology

Background:

• Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, life-threatening inherited arrhythmia.
• Characterized by adrenergic-dependent ventricular tachycardias, often presenting as exercise-induced syncope in young individuals.

Purpose of the Study:

• To provide a concise review of the genetic and molecular mechanisms underlying CPVT.
• To highlight the diagnostic and therapeutic implications of genetic testing in CPVT management.

Main Methods:

• Review of existing literature on CPVT genetics and molecular pathways.
• Discussion of diagnostic criteria and treatment strategies based on genetic findings.

Main Results:

• Mutations in genes like RYR2, CASQ2, CALM1, TRDN, and TECRL are associated with CPVT.
• RYR2 missense mutations account for up to 60% of CPVT cases.
• Genetic testing is a Class I recommendation for suspected CPVT.

Conclusions:

• Genetic testing plays a vital role in CPVT diagnosis, management, and family screening.
• Pharmacological treatment (beta-blockers, calcium-channel blockers) and ICD implantation are key therapeutic interventions.