Carvajal syndrome

Definition:

Carvajal syndrome is an autosomal recessive disorder, manifesting with dilated left ventricular cardiomyopathy, woolly hair, and palmoplantar keratoma. Carvajal syndrome is considered as a variant of Naxos disease. It is caused by homozygous mutation in the gene coding for desmoplakin. Recently, the autosomal dominant phenotype associated with leukonychia and oligodontia was reported.

References:

[1]. E E Norgett, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. [Content Brief]

[2]. Josef Finsterer, et al. Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe). Mol Genet Metab Rep. 2016 Jun 2;8:1-3. [Content Brief]

[3]. Nikos Protonotarios, et al. Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 2004 Jul-Aug;13(4):185-94. [Content Brief]

[4]. Stéphane Boulé, et al. Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia. Int J Cardiol. 2012 Nov 1;161(1):50-2. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.