Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome)

Abstract 

A 16-year-old female who was diagnosed with palmar-plantar keratosis and Papillon-Lefevre syndrome in life died following a period of stress/affray. Autopsy examination revealed evidence of minor trauma and a grossly abnormal heart. The heart was sent fresh and intact to a cardiac pathologist for examination. This revealed a dilated cardiomyopathy with left ventricular fibrosis, without fatty infiltration of the right ventricle. The features were in keeping with Carvajal syndrome, a variant of Naxos disease. This rare cardiac pathology and the interaction between stress (physiological, psychological and traumatic) and natural disease are discussed. The role of prompt referral for cardiac pathology assessment and association with the genodermatoses is also considered.

Keywords: Naxos disease, Carvajal syndrome, Sudden death, Traumatology, Cardiomyopathy