[Catecholaminergic Polymorphic Ventricular Tachycardia Caused by a Homozygous Pathogenic Variant in Calsequestrin 2...

Area of Science:

• Cardiology
• Genetics
• Molecular Biology

Background:

• Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, life-threatening inherited arrhythmia.
• It is often triggered by emotional or physical stress.
• Genetic mutations, particularly in the CASQ2 gene, are a known cause.

Purpose of the Study:

• To present a clinical case of CPVT in a young patient.
• To identify the genetic basis of the patient's condition.
• To discuss the management and prevention of sudden cardiac death in this context.

Main Methods:

• Clinical case presentation.
• Genetic analysis to identify pathogenic variants in the CASQ2 gene.
• Electrocardiographic monitoring and electrophysiological studies.
• Review of literature on CPVT management.

Main Results:

• A 19-year-old patient diagnosed with CPVT.
• Identification of a pathogenic homozygous variant (p.Ile193Asnfs*17) in the CASQ2 gene.
• Early manifestations included syncope and polymorphic ventricular arrhythmias without structural heart disease.
• Observed evolution of cardiac rhythm disorders over time.

Conclusions:

• The CASQ2 gene variant is associated with early-onset CPVT.
• Risk stratification and timely intervention are crucial for preventing sudden cardiac death in CPVT patients.
• This case underscores the importance of genetic testing in unexplained arrhythmias.