Results 141 to 150 of about 1,208,680 (158)

From hair to heart: how to suspect Carvajal syndrome in children.

European Journal of Pediatric Dermatology
Carvajal syndrome is an autosomal recessive disorder due to a defect in the desmoplakin gene. It is characterized by woolly hair, striated palmoplantar keratoderma, and left ventricular cardiomyopathy. While hair and skin features develop during childhood, cardiac symptoms do not appear until adolescence.
Sreenivasamurthy, R.H., Mehta, P., Doddaiah, N., Vunnam, V.   +3 more
openaire   +1 more source

A novel desmoplakin dominant mutation responsible for Carvajal/Naxos syndrome identified by exome sequencing

European Heart Journal, 2013
Purpose: Naxos and Carvajal syndrome are rare forms of recessive Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), characterized by ventricle dysplasia/dilated cardiomyopathy and ventricular arrhythmias, associated with palmoplantar keratoderma and woolly hair.
B. Tomberli, A. Fornaro, S. Bardi, F. Torricelli, M. Benelli, C. Pescucci, F. Cecchi, F. Girolami, I. Olivotto   +8 more
openaire   +1 more source

Carvajal Syndrome-A Rare Variant of Naxos Disease in Two Saudi Siblings

Pediatrics & Therapeutics, 2013
Naxos disease is a recessively inherited condition characterised by woolly hair, palmoplantar keratosis and arrhythmogenic right ventricular cardiomyopathy (ARVC). A rare syndrome with similar clinical picture and predominantly involving left ventricle has been termed as Carvajal Syndrome. We report two cases of a Saudi family admitted in our PICU.
openaire   +1 more source

Carvajal Syndrome - A Variant Of Arrhythmogenic Right Ventricular Cardiomyopathy

Journal of Cardiac Failure, 2022
Justin Arunthamakun, Praveen Rao, Amit Alam   +2 more
openaire   +1 more source

Commentary on “Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes”

Pediatric Dermatology, 2021
Alexandra M. Ritter, Harriet Bagnal Hinen, Keith Adam Choate, Lara Wine Lee   +3 more
openaire   +2 more sources

Carvajal syndrome with oligodontia, hypoacusis, recurrent infections, and noncompaction

International Journal of Cardiology, 2016
Claudia Stöllberger, Igor Vujic, Eva Wollmann, Josef Freudenthaler, Josef Finsterer   +4 more
openaire   +1 more source

Carvajal syndrome in an African-American male

Journal of the American Academy of Dermatology, 2015
openaire   +1 more source

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes

Pediatric Dermatology, 2021
Qisi Sun, Robert W Elder
exaly  

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe)

Molecular Genetics and Metabolism Reports, 2016
Franco Laccone
exaly  

A case of Carvajal syndrome associated with cervical neuroblastoma in an 8‐year‐old girl

International Journal of Dermatology, 2018
Neslihan Akdogan, Pınar Incel‐Uysal, Busranur Cavdarli, Vehap Topcu, Basak Yalcin   +4 more
openaire   +2 more sources