Carvajal syndrome

Carvajal syndrome is a very rare inherited condition that affects the heart, skin, and hair. It is also sometimes called dilated cardiomyopathy with woolly hair and keratoderma. The condition causes the heart muscle to become weak and enlarged — a problem called dilated cardiomyopathy — which makes it harder for the heart to pump blood properly. At the same time, people with Carvajal syndrome develop thickened, rough skin on the palms of the hands and soles of the feet (called palmoplantar keratoderma) and have tightly curled, woolly hair. The heart problems are the most serious part of this condition. A weakened heart can lead to heart failure, irregular heartbeats, and in some cases, sudden cardiac death, especially in children and young adults. The skin and hair changes, while not dangerous, are usually present from birth or early childhood and can be a helpful clue for diagnosis. Treatment focuses on managing the heart condition, since there is no cure. Medications used for heart failure, devices like implantable defibrillators, and in severe cases heart transplantation may be needed. Early diagnosis and close heart monitoring are very important to improve outcomes for people living with Carvajal syndrome.

Bring these to your next appointment

• Q1.How severe is my child's heart condition right now, and what changes should I watch for?,Does my child need an implantable defibrillator, and what are the risks and benefits?,What physical activities are safe, and which ones should be avoided?,Should other family members be tested for the DSP gene change?,At what point would a heart transplant be considered, and how do we prepare for that possibility?,Are there any clinical trials or research studies we could participate in?,What is the best way to manage the skin thickening on the hands and feet?

Common questions about Carvajal syndrome

Related conditions

Other rare diseases commonly researched alongside Carvajal syndrome.

• Naxos disease→