Nonsustained ventricular arrhythmia in a pediatric patient with Charcot Marie Tooth disease – Early development of life-threatening arrhythmia or benign ventricular ectopy?

Charcot Marie Tooth disorder (CMT) is a is the most common genetic neuromuscular disease in children. Unlike other hereditary length-dependent neuropathies, the association between CMT and cardiac conduction defects or cardiomyopathies has not been fully elucidated despite growing incidence in such patients. In this report, we describe a 10-year-old male with CMT who has been followed by cardiology for premature ventricular contractions (PVCs) and nonsustained runs of ventricular tachycardia since early childhood whose arrhythmia proved refractory to monotherapy with beta blockers. While largely asymptomatic, increasing burden of PVCs and borderline left ventricular enlargement on recent imaging has called for the discussion of escalation of medical therapy with a combination of different antiarrhythmics or intervention with catheter ablation. This case represents a unique challenge for physicians caring for patients with hereditary neuropathies whose predisposition to cardiac conduction abnormalities or cardiomyopathies remains unclear. More importantly, it highlights the importance of early diagnosis and management as well as interprofessional care and transition of these patients to adulthood.