Catheter Ablation of Drug-refractory Ventricular Tachycardia in Genetically Confirmed Carvajal Syndrome with Extensive Left Ventricular Scar: A Case Report

Background Carvajal syndrome is a rare autosomal recessive cardiocutaneous disorder caused by pathogenic variants in the desmoplakin (DSP) gene and characterized by woolly hair, palmoplantar keratoderma, and early-onset dilated cardiomyopathy with a high risk of malignant ventricular arrhythmias. Case Presentation We report a 15-year-old boy with genetically confirmed Carvajal syndrome and longstanding dilated cardiomyopathy who presented with recurrent syncope and frequent ventricular arrhythmias. Holter monitoring demonstrated a high burden of premature ventricular complexes and sustained monomorphic ventricular tachycardia. Echocardiography showed severe left ventricular systolic dysfunction (ejection fraction ~ 25%). Cardiac magnetic resonance imaging revealed extensive non-ischemic late gadolinium enhancement consistent with diffuse myocardial fibrosis. Ventricular tachycardia persisted despite antiarrhythmic therapy including lidocaine and mexiletine. Substrate-guided three-dimensional electroanatomic mapping and radiofrequency catheter ablation rendered ventricular tachycardia non-inducible. Management and Outcome The patient experienced symptomatic improvement with no further sustained ventricular arrhythmias during hospitalization and was discharged on optimized heart failure therapy. Implantable cardioverter-defibrillator implantation was advised for secondary prevention. Conclusion This case highlights the aggressive arrhythmic phenotype of desmoplakin cardiomyopathy and demonstrates that multimodality imaging-guided substrate-based catheter ablation can provide effective adjunctive control of scar-mediated ventricular tachycardia but does not replace implantable cardioverter-defibrillator therapy for secondary prevention. Trial Registration Not applicable.