Web of Science: 20 citas, Scopus: 18 citas, Google Scholar: citas,
Genetic etiology for alcohol-induced cardiac toxicity
Ware, James S. (Imperial College London. National Heart and Lung Institute)
Amor-Salamanca, Almudena (Hospital Universitario Puerta de Hierro. Departamento de Cardiología)
Tayal, Upasana (Imperial College London. National Heart and Lung Institute)
Govind, Risha (Imperial College London. National Heart and Lung Institute)
Serrano, Isabel (Hospital Universitari de Tarragona Joan XXIII. Departament de Cardiología)
Salazar-Mendiguchía, Joel (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
García-Pinilla, Jose Manuel (Hospital Universitario Virgen de la Victoria. Departamento de Cardiología)
Pascual-Figal, Domingo A. (Hospital Universitario Virgen de la Arrixaca. Departamento de Cardiología)
Nuñez, Julio (INCLIVA (Valencia, Spain). Departamento de Cardiología)
Guzzo-Merello, Gonzalo (Hospital Universitario Puerta de Hierro. Departamento de Cardiología)
Gonzalez-Vioque, Emiliano (Hospital Universitario Puerta de Hierro. Departamento de Bioquímica)
Bardají, Alfredo (Hospital Universitari de Tarragona Joan XXIII. Departament de Cardiología)
Manito, Nicolas (Hospital Universitari de Bellvitge. Departament de Cardiología)
López-Garrido, Miguel A. (Hospital Universitario Virgen de la Victoria. Departamento de Cardiología)
Padron-Barthe, Laura (Hospital Universitario Puerta de Hierro. Departamento de Cardiología)
Edwards, Elizabeth (Imperial College London. National Heart and Lung Institute)
Whiffin, Nicola (Imperial College London. National Heart and Lung Institute)
Walsh, Roddy (Imperial College London. National Heart and Lung Institute)
Buchan, Rachel J. (Imperial College London. National Heart and Lung Institute)
Midwinter, William (Imperial College London. National Heart and Lung Institute)
Wilk, Alicja (Imperial College London. National Heart and Lung Institute)
Prasad, Sanjay (Imperial College London. National Heart and Lung Institute)
Pantazis, Antonis (Royal Brompton and Harefield. Cardiovascular Research Centre)
Baski, John (Royal Brompton and Harefield. Cardiovascular Research Centre)
O'Regan, Declan P. (Imperial College London. MRC London Institute of Medical Sciences)
Alonso-Pulpon, Luis (Hospital Universitario Puerta de Hierro. Departamento de Cardiología)
Cook, Stuart A. (Imperial College London. National Heart and Lung Institute)
Lara-Pezzi, Enrique (Centro Nacional de Investigaciones Cardiovasculares (Madrid, Spain))
Barton, Paul J. (Imperial College London. National Heart and Lung Institute)
Garcia-Pavia, Pablo (Universidad Francisco de Vitoria)

Fecha: 2018
Resumen: Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardiac toxicity on exposure to alcohol. This study sought to evaluate the role of variation in cardiomyopathy-associated genes in the pathophysiology of ACM, and to examine the effects of alcohol intake and genotype on dilated cardiomyopathy (DCM) severity. The authors characterized 141 ACM cases, 716 DCM cases, and 445 healthy volunteers. The authors compared the prevalence of rare, protein-altering variants in 9 genes associated with inherited DCM. They evaluated the effect of genotype and alcohol consumption on phenotype in DCM. Variants in well-characterized DCM-causing genes were more prevalent in patients with ACM than control subjects (13. 5% vs. 2. 9%; p = 1. 2 ×10 ⁻⁵), but similar between patients with ACM and DCM (19. 4%; p = 0. 12) and with a predominant burden of titin truncating variants (TTNtv) (9. 9%). Separately, we identified an interaction between TTN genotype and excess alcohol consumption in a cohort of DCM patients not meeting ACM criteria. On multivariate analysis, DCM patients with a TTNtv who consumed excess alcohol had an 8. 7% absolute reduction in ejection fraction (95% confidence interval: −2. 3% to −15. 1%; p < 0. 007) compared with those without TTNtv and excess alcohol consumption. The presence of TTNtv did not predict phenotype, outcome, or functional recovery on treatment in ACM patients. TTNtv represent a prevalent genetic predisposition for ACM, and are also associated with a worse left ventricular ejection fraction in DCM patients who consume alcohol above recommended levels. Familial evaluation and genetic testing should be considered in patients presenting with ACM.
Nota: Número d'acord de subvenció ISCIII/PI15/01551
Nota: Número d'acord de subvenció MINECO/SAF2015-71863-REDT
Nota: Número d'acord de subvenció MINECO/SEV-2015-0505
Derechos: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Lengua: Anglès.
Documento: article ; recerca ; publishedVersion
Materia: Alcohol ; Dilated cardiomyopathy ; Genetics ; Titin ; Variant ; ACM, alcoholic cardiomyopathy ; DCM, dilated cardiomyopathy ; ExAC, Exome Aggregation Consortium ; LVEF, left ventricular ejection fraction ; TTNtv, titin truncating variant
Publicado en: Journal of the American College of Cardiology, Vol. 71, issue 20 (May 2018) , p. 2293-2302, ISSN 1558-3597

PMID: 29773157
DOI: 10.1016/j.jacc.2018.03.462


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 Registro creado el 2018-06-18, última modificación el 2019-05-21



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