Dsprul: A spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome [PDF]
Experimental and Molecular Pathology, 2015 Studies of spontaneous mutations in mice have provided valuable disease models and important insights into the mechanisms of human disease. Ruffled (rul) is a new autosomal recessive mutation causing abnormal hair coat in mice. The rul allele arose spontaneously in the RB156Bnr/EiJ inbred mouse strain.
John Sundberg +2 more
exaly +5 more sources
Anesthesia in Carvajal syndrome; the first case report
Anaesthesia, Pain & Intensive Care, 2020 Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic
Mehrdad Memarzade +3 more
openaire +2 more sources
Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene [PDF]
Российский кардиологический журнал, 2018 Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy.
T. G. Vaikhanskaya +5 more
doaj +2 more sources
De novo heterozygous desmoplakin mutations leading to Naxos-Carvajal disease [PDF]
Swiss Medical Weekly, 2012 STUDY/PRINCIPLES: Arrythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal-dominantly inherited disease caused by mutations in genes encoding desmosomal proteins and is characterised by fibrofatty replacement occurring ...
Dagmar I Keller +9 more
doaj +2 more sources
Desmosomal-Type Acantholysis—A New Histologic Pattern Related to Mutations of Genes for Desmosomal Proteins [PDF]
DermatopathologyDesmosomes are specialized cell–cell junctions that play a crucial role in maintaining the structural integrity of both cornifying and non-cornifying epithelium. Disruption of desmosomal cohesion in autoimmune, infectious, and other diseases is typically
Dieter Metze +4 more
doaj +2 more sources
Magnetic Resonance Imaging Characteristics in Carvajal Syndrome (Variant of Naxos Disease) [PDF]
Circulation, 2007 Naxos disease is an autosomal recessively inherited familial syndrome that is characterized by woolly hair, palmoplantar keratoderma, and a cell adhesion cardiomyopathy, specifically an arrhythmogenic right ventricular dysplasia.1 This cardiocutaneous syndrome was first reported in the Hellenic island of Naxos.
Maximilian Reiser +2 more
exaly +2 more sources
A Nine-Year-Old Girl With Left Ventricle Non-Compaction and Skin Lesions (Carvajal Syndrome). [PDF]
Iran J Pediatr, 2015 Arrhythmogenic right ventricular dysplasia (ARVD), a cardiomyopathy characterized by fibrofatty degeneration of the myocardium with progressive dysfunction, electrical instability, and sudden death, occurs in approximately 1 in 5000 people in the United States.We present a nine-year-old girl complaining of dyspnea, easy fatigability and skin lesions ...
Mohammadpour Ahranjani B +3 more
europepmc +4 more sources
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review [PDF]
Internal Medicine, 2021 Sho Okada
exaly +2 more sources
Cardiac magnetic resonance imaging findings in primary arrhythmogenic left ventricular cardiomyopathy with cardiocutaneous phenotype—Carvajal syndrome [PDF]
HeartRhythm Case Reports, 2021 Mahi Ashwath, Emmanuel Akintoye
exaly +2 more sources