Woolly hair, palmoplantar keratoderma and arrhythmogenic dilated cardiomyopathy in a 7-year-old Turkish girl : Carvajal syndrome

Carvajal syndrome (OMIM 605676) is a familial syndrome consisting of woolly hair, palmoplantar keratoderma and heart disease. It leads to dilated cardiomyopathy that affects predominantly the left ventricle. It is caused by a recessive mutation in desmoplakin, an intracellular protein that links des...

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Bibliographic Details
Published in:Annals of tropical paediatrics 2006-03, Vol.26 (1), p.73-77
Main Authors: TURKAY, Sadi, ODEMIS, Ender, KARADAG, Ahmet
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cardiology. Vascular system
Cardiomyopathy, Dilated - pathology
Cardiomyopathy, Dilated - physiopathology
Child
Dermatology
Dyskeratosis
Echocardiography
Fatal Outcome
Female
Hair - abnormalities
Heart
Humans
Keratoderma, Palmoplantar - pathology
Keratoderma, Palmoplantar - physiopathology
Medical sciences
Myocarditis. Cardiomyopathies
Recurrence
Syndrome
Tachycardia, Ventricular - pathology
Tachycardia, Ventricular - physiopathology
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Summary:Carvajal syndrome (OMIM 605676) is a familial syndrome consisting of woolly hair, palmoplantar keratoderma and heart disease. It leads to dilated cardiomyopathy that affects predominantly the left ventricle. It is caused by a recessive mutation in desmoplakin, an intracellular protein that links desmosomal adhesion molecules to intermediate filaments of the cytoskeleton. Very few patients with this syndrome have been reported, and all have been from Equador or India. We report a 7-year-old Turkish girl with Carvajal syndrome.
ISSN:0272-4936
2046-9047
1465-3281
2046-9055
DOI:10.1179/146532806X90646