Carvajal Syndrome

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Carvajal Syndrome

Meta Description: Carvajal syndrome also known as striate palmoplantar keratoderma with woolly hair and cardiomyopathy is a cutaneous condition inherited in an autosomal recessive pattern due to a defect in desmoplakin gene. It is a progressive heart disease and may cause sudden death in a child with early age.

Carvajal syndrome also known as striate palmoplantar keratoderma with woolly hair and cardiomyopathy is a cutaneous condition inherited in an autosomal recessive pattern due to a defect in desmoplakin gene. The skin disease presents as a striate palmoplantar keratoderma particularly at sites of pressure. The patient is at risk of sudden cardiac death due to dilated cardiomyopathy associated with this entity.

It is a progressive heart disease and may cause sudden death in a child with early age. Whenever a child presents with such a dermatological manifestation, the paediatric cardiologist’s consultation must be done at earliest possible. The primary goal of the management is to prevent sudden cardiac death. Implantation of automatic cardioverter defibrillator, antiarrhythmic drugs and management of heart failure are the recommended treatment modalities. The population at risk should be genetically screened.

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