Results 141 to 150 of about 16,109 (164)

Variant Carvajal syndrome with additional dental anomalies

International Journal of Paediatric Dentistry, 2012
International Journal of Paediatric Dentistry 2012; 22: 390–396 Background  This paper aims to review the case of a girl who presented with a number of dental anomalies, in addition to unusual skin, nail and hair conditions. Tragically an undiagnosed cardiomyopathy caused unexpected sudden death.
Sophy, Barber, Peter, Day, Mary, Judge, Edell O', Toole, Stephen, Fayle   +4 more
openaire   +2 more sources

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes

Pediatric Dermatology, 2020
AbstractCarvajal and erythrokeratodermia cardiomyopathy syndromes (EKC) are rare, inherited cardiocutaneous disorders with potentially fatal consequences in young children. Some patients display features of congestive heart failure and rapidly deteriorate; others exhibit no evident warning signs until sudden death reveals underlying heart disease.
Qisi Sun, Lara Wine Lee, E Kevin Hall, Keith A. Choate, Robert W. Elder   +4 more
openaire   +2 more sources

Noncompaction and dilated cardiomyopathy in carvajal syndrome

Cardiology in the Young
Abstract Introduction: Carvajal syndrome, a rare autosomal recessive disorder caused by mutations in the DSP gene, is characterised by woolly hair, palmoplantar keratoderma, and left ventricular dilated cardiomyopathy.
Demet Tosun, Nihal Akçay, İlyas Bingöl, Damla Gökçeer Akbulut   +3 more
openaire   +2 more sources

A case of Carvajal syndrome presenting with dilated cardiomyopathy

Cardiology in the Young
AbstractObjectives:Carvajal syndrome is a very rare autosomal recessive cardiocutaneous disorder caused by a desmosomal mutation in exon 24 of the desmoplakin gene. It manifests with woolly hair, epidermolytic palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy.
Sule Arıcı, Figen Akalın, Bilgen Bilge Geckinli   +2 more
openaire   +2 more sources

A New Hypo/Oligodontia Syndrome

Journal of Dental Research, 2010
Dental agenesis is either syndromic or non-syndromic. Here, we describe a familial case with Carvajal/Naxos syndrome associating woolly hair, palmoplantar keratoderma, and biventricular dilated cardiomyopathy. In addition to these signs, all three affected family members had hypo/oligodontia ranging from absence of the lower left second molar to 15 ...
L, Chalabreysse, F, Senni, P, Bruyère, B, Aime, C, Ollagnier, A, Bozio, P, Bouvagnet   +6 more
openaire   +2 more sources

Novel desmoplakin mutations in familial Carvajal syndrome.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019
Desmoplakin is encoded by DSP gene, whose altered function leads to skin and hair abnormalities, and heart diseases. The whole triad of these traits characterizes the Carvajal syndrome (CS). CS is an autosomal recessive genetic disorder, mapping on chromosome 6q24 and caused by mutations in DSP gene.
Danat, Yermakovich, Larysa, Sivitskaya, Tatiyana, Vaikhanskaya, Nina, Danilenko, Iryna, Motuk   +4 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

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

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