Results 131 to 140 of about 16,109 (164)

Structural and molecular pathology of the heart in Carvajal syndrome

Cardiovascular Pathology, 2004
Carvajal syndrome is a familial cardiocutaneous syndrome consisting of woolly hair, palmoplantar keratoderma, and heart disease. It is caused by a recessive deletion mutation in desmoplakin, an intracellular protein that links desmosomal adhesion molecules to intermediate filaments of the cytoskeleton.
Gaetano Thiene
exaly   +4 more sources

HeartWare LVAD Implantation in a Patient with a Rare ARVD: Carvajal Syndrome

International Journal of Artificial Organs, 2014
Carvajal syndrome is a variant of Naxos disease characterized by a predominant left ventricular involvement, wooly or curly hair, and palmoplantar keratoderma or similar skin disorders. We describe the clinical and therapeutic course of a 14-year old boy affected by this syndrome, in whom a progressive biventricular failure developed at 13 years of age.
Tomaso Bottio, Jonida Bejko, Vincenzo Tarzia   +2 more
exaly   +5 more sources

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

Pediatric Dermatology, 2015
AbstractBackgroundMutations in various desmosomal proteins were shown to cause inherited forms of cardiomyopathy. Carvajal syndrome (Online Mendelian Inheritance in Man [OMIM] 605676) is characterized by the association of dilated cardiomyopathy, striate palmoplantar keratoderma, and woolly hair.
Vered Molho-Pessach, Natalia Simanovsky, Yuval Ramot   +2 more
exaly   +3 more sources

Dilated cardiomyopathy and sudden death in a teenager with palmar-plantar keratosis (occult Carvajal syndrome)

Journal of Clinical Forensic and Legal Medicine, 2008
A 16-year-old female who was diagnosed with palmar-plantar keratosis and Papillon-Lefevre syndrome in life died following a period of stress/affray. Autopsy examination revealed evidence of minor trauma and a grossly abnormal heart. The heart was sent fresh and intact to a cardiac pathologist for examination. This revealed a dilated cardiomyopathy with
C M Milroy, S K Suvarna
exaly   +3 more sources

A case of Carvajal syndrome caused by a spontaneous mutation in the desmoplakin gene

Chinese Journal of Dermatology, 2019
Objective To report a case of Carvajai syndrome caused by a spontaneous mutation in the desmoplakin (DSP) gene. Methods Clinical data were collected form a patient with Carvajal syndrome in Department of Dermatology, The First Affiliated Hospital of Zhengzhou University.
exaly   +2 more sources

Biventricular involvement in a Turkish boy with palmoplantar hyperkeratosis and curly hair, an unusual presentation of Naxos–Carvajal syndrome

International Journal of Cardiology, 2007
Naxos disease is an autosomal recessively inherited familial syndrome characterized by woolly hair, palmoplantar keratoderma and a cell adhesion cardiomyopathy, especially arrhythmogenic right ventricular dysplasia (ARVD). Carvajal syndrome is a variant of Naxos disease in which curly or woolly hair, biventricular--predominantly left ventricular ...
Dilek Ural, Aysen Agacdiken, Y Anik
exaly   +3 more sources

Naxos disease and Carvajal syndrome

Cardiovascular Pathology, 2004
Nikos Protonotarios, Adalena Tsatsopoulou   +1 more
exaly   +2 more sources

Novel desmoplakin mutations in a child with Carvajal syndrome

Chinese Journal of Dermatology, 2020
exaly   +2 more sources