دورية أكاديمية
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.
| العنوان: | Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy. |
|---|---|
| المؤلفون: | Lota, Amrit S, Hazebroek, Mark R, Theotokis, Pantazis, Wassall, Rebecca, Salmi, Sara, Halliday, Brian P, Tayal, Upasana, Verdonschot, Job, Meena, Devendra, Owen, Ruth, de Marvao, Antonio, Iacob, Alma, Yazdani, Momina, Hammersley, Daniel J, Jones, Richard E, Wage, Riccardo, Buchan, Rachel, Vivian, Fredrik, Hafouda, Yakeen, Noseda, Michela, Gregson, John, Mittal, Tarun, Wong, Joyce, Robertus, Jan Lukas, Baksi, A John, Vassiliou, Vassilios, Tzoulaki, Ioanna, Pantazis, Antonis, Cleland, John G F, Barton, Paul J R, Cook, Stuart A, Pennell, Dudley J, Garcia-Pavia, Pablo, Cooper, Leslie T, Heymans, Stephane, Ware, James S, Prasad, Sanjay K |
| المساهمون: | British Heart Foundation, Medical Research Council (Reino Unido), Wellcome Trust, Fondation Leducq, Instituto de Salud Carlos III, Fundación ProCNIC, Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España), Ministerio de Ciencia (España) |
| بيانات النشر: | American Heart Association (AHA) |
| سنة النشر: | 2022 |
| المجموعة: | REPISALUD (REPositorio Institucional en SALUD del Instituto de Salud Carlos III - ISCIII) |
| مصطلحات موضوعية: | Cardiomyopathy, Dilated, Myocarditis, Adult, Female, Heart, Humans, Male, Middle Aged, Stroke Volume, Ventricular Function, Left |
| الوصف: | Acute myocarditis is an inflammatory condition that may herald the onset of dilated cardiomyopathy (DCM) or arrhythmogenic cardiomyopathy (ACM). We investigated the frequency and clinical consequences of DCM and ACM genetic variants in a population-based cohort of patients with acute myocarditis. This was a population-based cohort of 336 consecutive patients with acute myocarditis enrolled in London and Maastricht. All participants underwent targeted DNA sequencing for well-characterized cardiomyopathy-associated genes with comparison to healthy controls (n=1053) sequenced on the same platform. Case ascertainment in England was assessed against national hospital admission data. The primary outcome was all-cause mortality. Variants that would be considered pathogenic if found in a patient with DCM or ACM were identified in 8% of myocarditis cases compared with <1% of healthy controls (P=0.0097). In the London cohort (n=230; median age, 33 years; 84% men), patients were representative of national myocarditis admissions (median age, 32 years; 71% men; 66% case ascertainment), and there was enrichment of rare truncating variants (tv) in ACM-associated genes (3.1% of cases versus 0.4% of controls; odds ratio, 8.2; P=0.001). This was driven predominantly by DSP-tv in patients with normal LV ejection fraction and ventricular arrhythmia. In Maastricht (n=106; median age, 54 years; 61% men), there was enrichment of rare truncating variants in DCM-associated genes, particularly TTN-tv, found in 7% (all with left ventricular ejection fraction <50%) compared with 1% in controls (odds ratio, 3.6; P=0.0116). Across both cohorts over a median of 5.0 years (interquartile range, 3.9-7.8 years), all-cause mortality was 5.4%. Two-thirds of deaths were cardiovascular, attributable to worsening heart failure (92%) or sudden cardiac death (8%). The 5-year mortality risk was 3.3% in genotype-negative patients versus 11.1% for genotype-positive patients (Padjusted=0.08). We identified DCM- or ACM-associated genetic variants in 8% ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1524-4539 |
| العلاقة: | info:eu-repo/grantAgreement/ES/EX2020-001041-S; Circulation. 2022 Oct 11;146(15):1123-1134; http://hdl.handle.net/20.500.12105/15787Test; Circulation |
| DOI: | 10.1161/CIRCULATIONAHA.121.058457 |
| الإتاحة: | https://doi.org/20.500.12105/15787Test https://doi.org/10.1161/CIRCULATIONAHA.121.058457Test https://hdl.handle.net/20.500.12105/15787Test |
| حقوق: | http://creativecommons.org/licenses/by/4.0Test/ ; Atribución 4.0 Internacional ; open access |
| رقم الانضمام: | edsbas.610B36F5 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 15244539 |
|---|---|
| DOI: | 10.1161/CIRCULATIONAHA.121.058457 |