Results 31 to 40 of about 10,499 (199)

Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy [PDF]

, 2019
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disorder characterized by myocardial fibrofatty replacement and an increased risk of sudden cardiac death (SCD).
Asimaki, A, Basu, J, Behr, ER, Cook, SA, Ensam, B, Finocchiaro, G, Gray, B, Malhotra, A, Miles, C, Papadakis, M, Papatheodorou, E, Parry-Williams, G, Paterson, C, Robertus, JL, Sharma, S, Sheppard, MN, Ster, IC, Tome, M, Ware, JS, Westaby, J, Witney, A   +20 more
core   +1 more source

Case report: Multiple biventricular aneurysms in arrhythmogenic cardiomyopathy

Frontiers in Cardiovascular Medicine, 2023
Arrhythmogenic cardiomyopathy (ACM) is a genetic disease characterized by fibro-fatty myocardial replacement and is clinically associated with malignant ventricular arrhythmias and sudden cardiac death.
Jiadong Lin, Zhijuang Lu, Mingqin Lin, Ying Wan, Jianfeng Li, Xinsheng Huang   +5 more
doaj   +1 more source

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

BMC Medical Genetics, 2020
Background Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations in the titin (TTN) and lamin A/C (
Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo   +8 more
doaj   +1 more source

Acute Myocarditis-Like Episode in a Curly-Haired Young Boy—Red Flags for Familial Arrhythmogenic Cardiomyopathy

Diagnostics, 2020
The present case report describes a mother and son with arrhythmogenic cardiomyopathy (ACM) with early and greater left ventricle (LV) involvement. The presence of curly hair in both, together with the resuscitated sudden cardiac death of the mother ...
Alina Elena Pătru, Sebastian Onciul, Adrian Sturzu, Eliza Cinteză, Eleonora Gima, Bogdan A. Popescu, Philippe Chevalier, Ruxandra Jurcuț   +7 more
doaj   +1 more source

Skin fragility, hair abnormality and pachyonychia caused by DSP mutations:a case report and literature review

Pifu-xingbing zhenliaoxue zazhi, 2022
Objective To report a case of genodermatosis featured by skin fragility, alopecia and pachyonychia, and to identify the underlying genetic basis. Methods Clinical information was collected, and peripheral blood was obtained from the patient and his ...
Huijun WANG, Zhimiao LIN
doaj   +1 more source

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Al-Asadi, E., Hansen, C. D., McLean, W. H. I., Milstone, L. M., O'Toole, E., Schwartz, M. E., Shepherd, A. A., Smith, F. J. D., Sprecher, E., Wilson, N. J.   +9 more
core   +3 more sources

The Desmoplakin Phenotype Spectrum: Is the Inflammation the "Fil Rouge" Linking Myocarditis, Arrhythmogenic Cardiomyopathy, and Uncommon Autoinflammatory Systemic Disease? [PDF]

Genes (Basel)
D'Elia S, Caputo A, Natale F, Pezzullo E, Limongelli G, Golino P, Cimmino G, Loffredo FS.   +7 more
europepmc   +3 more sources

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]

, 2006
PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E., Moon, D.J., Obara, T., Ong, A.C.M., Streets, A.J.   +4 more
core   +2 more sources

A global perspective of arrhythmogenic right ventricular cardiomyopathy. [PDF]

, 2012
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive inherited heart disease characterized by ventricular arrhythmias and sudden cardiac death especially in the young. ARVC has been traditionally associated with the Mediterranean basin,
Alhashemi, M, Elmaghawry, M, Yacoub, MH, Zorzi, A   +3 more
core   +1 more source

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)

Cardiogenetics, 2022
Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years.
Nosheen Reza, Alejandro de Feria, Jessica L. Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf, Anjali Tiku Owens   +7 more
doaj   +1 more source