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Carvajal Syndrome- A Variant of Naxos Disease: A Case Report [PDF]

Journal of Nepal Medical Association, 2022
Carvajal syndrome is a rare variant of Naxos disease, a recessive mutation of the desmoplakin gene characterized by presence of woolly hair, palmoplantar keratoderma and dilated cardiomyopathy, mainly left ventricular involvement.
Krishna Deo Mandal, Pun Narayan Shrestha, Anjila Ghimire, Prakash Joshi, Sumit Agrawal, Prapti Shrestha   +5 more
doaj   +8 more sources

Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome [PDF]

JACC: Case Reports, 2020
In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified.
Maria Grazia De Gregorio, MD, Francesca Girolami, BS, Benedetta Tomberli, MD, Guendalina Rossi, MD, Alessia Tomberli, RN, Katia Baldini, RN, Iacopo Olivotto, MD   +6 more
doaj   +7 more sources

Genotype and cardiac outcome in patients with cardiocutaneous syndrome (Naxos disease variant: Carvajal syndrome) [PDF]

Orphanet Journal of Rare Diseases
Background Naxos disease variant (Carvajal syndrome) is a cardiocutaneous genetic disease caused by Plakoglobin and Desmoplakin gene mutation, and usually manifests with woolly hair, palmoplantar keratoderma, and cardiomyopathy, and are found to have a ...
Maha Binfadel, Mohamed Umair Aleem, Mohammed Alhabdan, Nadiah Alruwaili, Zuhair AlHassnan, Olga Vriz, Sahar Tulbah, Dimpna Calila Albert-Brotons   +7 more
doaj   +5 more sources

Evidence for genetic heterogeneity in Carvajal syndrome

Cell and Tissue Research, 2012
Carvajal syndrome is a rare syndrome with woolly hair, palmoplantar keratosis and dilated cardiomyopathy. The inheritance of the mutation is autosomal recessive. As a causal gene, the desmoplakin gene (DSP) has so far been identified; it encodes an essential component of desmosomes, a cell-cell structure aimed at keeping cells attached to each other in
Nathalie Roux-Buisson
exaly   +5 more sources

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

Molecular Genetics and Metabolism Reports, 2016
Background: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found.
Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone   +4 more
doaj   +4 more sources

A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review

Clinical, Cosmetic and Investigational Dermatology, 2023
Xiu-Jie Zhao,1 Chun-Yu Bai,2 Xiao-Yan Li,1 Lei Wang,2 Ren-Ping Wang,2 Yue Xia,1,2 Gang Liu,1 Hong-Liang Zhao,1,* Hong-Zun Xu2,* 1Department of Cardiology, The First Hospital of Hebei Medical University, Shijiazhuang, 050031, People’s Republic of ...
Zhao XJ, Bai CY, Li XY, Wang L, Wang RP, Xia Y, Liu G, Zhao HL, Xu HZ   +8 more
doaj   +3 more sources

Advanced Biventricular Heart Failure Precipitated by Large Territory Stroke in a Patient With Carvajal Syndrome [PDF]

JACC: Case Reports
Stroke-heart syndrome describes the neurocardiogenic mechanisms that lead to the development of poststroke cardiovascular complications. We describe a 25-year-old man with Carvajal syndrome who developed advanced biventricular heart failure 2 months after a large territory ischemic stroke.
Chandu Sadasivan
exaly   +4 more sources

Woolly Hair: Essential Clue in Carvajal Syndrome [PDF]

International Journal of Trichology
García-Piqueras P, Manzano-Pablos RM, Camino-López M, Campos-Dominguez M.   +3 more
exaly   +4 more sources

Prevent Sudden Death in Carvajal Syndrome With Left Ventricular Hypertrabeculation/Noncompaction. [PDF]

Iran J Pediatr, 2016
Dear Editor, With interest we read the article by Mohammadpour Ahranjani et al. about a nine-year-old girl with heart failure due to systolic dysfunction and left ventricular hypertrabeculation/noncompaction (LVHT) in whom the association with skin abnormalities led to the diagnosis of Caravajal syndrome (CS) (1).
Stollberger C, Finsterer J.
europepmc   +4 more sources

A novel mutation in the desmoplakin gene in two female siblings with a rare form of dilated cardiomyopathy: Carvajal syndrome. [PDF]

Anatol J Cardiol, 2017
Carvajal syndrome is a cardiocutaneous syndrome characterized by dilated cardiomyopathy (DCM), woolly hair, and keratoderma (1). Here we present the case of two female siblings with Carvajal syndrome and a new homozygous frameshift mutation in desmoplakin (DSP).
Ramoğlu MG, Uçar T, Ceylaner S, Atalay S, Tutar E.   +4 more
europepmc   +3 more sources