Catecholaminergic polymorphic ventricular tachycardia: a rare cause of recurrent syncope

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia characterized by adrenergically induced polymorphic or bidirectional ventricular tachycardia (VT). Although a rare disease, its recognition is important because of its high mortality rate when left untreated. We report an index case of a 32-year-old woman who presented with recurrent syncope. The diagnosis was confirmed by exercise-induced polymorphic ventricular premature beats and episodes of non-sustained VT, in the absence of structural heart abnormalities. She remained event free with beta-blocker therapy. CPVT is a potentially life-threatening disease and should be considered in the case of recurrent syncope, in young individuals. Diagnosis is based on clinical history and exercise testing, which is the gold standard. Therapy is mandatory in all diagnosed individuals. Exercise testing in first-degree relatives is recommended, even in the case of a mutation-negative index patient.

Catecholaminergic Polymorphic Ventricular Tachycardia and Gene Therapy: A Comprehensive Review of the Literature

“…Most of the patients are asymptomatic throughout life but in the presence of a trigger event, such as emotional or physical stress, CPVT may present as syncope [ 22 , 23 ]. This is the most common symptom, followed by dyspnea, chest pain, dizziness, palpitations, and even cardiac arrest with a full recovery after the event or leading to sudden cardiac death in the setting of a normal structural heart.…”

“…The presence of clinical features like exercise or emotion-induced syncope [ 22 , 23 ], repeated syncopal attacks [ 28 ], and sometimes even the presentation of life-threatening arrhythmias should elicit a suspicion for CPVT [ 3 , 6 ]. Catecholamine surge-induced polymorphic ventricular tachycardia or bidirectional ventricular tachycardia points towards CPVT when accompanied by a heart that is structurally devoid of any defects and a normal resting electrocardiogram.…”