دورية أكاديمية
The added value of contrast-enhanced cardiac magnetic resonance to predict positive genetic testing in clinically suspected Lamin A/C cardiomyopathy
| العنوان: | The added value of contrast-enhanced cardiac magnetic resonance to predict positive genetic testing in clinically suspected Lamin A/C cardiomyopathy |
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| المؤلفون: | Delhommeau, P, Marteau, L, Kyndt, F, Constant Dit Beaufils, AL, Warin-Fresse, K, Serfaty, JM, Rousseau, O, Karakachoff, M, Conan, E, Clero, S, Le Tourneau, T, Thollet, A, Trochu, JN, Probst, V, Piriou, N |
| المصدر: | European Heart Journal - Cardiovascular Imaging ; volume 22, issue Supplement_1 ; ISSN 2047-2404 2047-2412 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Cardiology and Cardiovascular Medicine, Radiology, Nuclear Medicine and imaging, General Medicine |
| الوصف: | Funding Acknowledgements Type of funding sources: None. Background Lamin A/C cardiomyopathy (CM) is an inherited disease due to LMNA gene mutation with particular phenotype that associates conduction disorders, frequent atrial fibrillation and life-threatening ventricular arrhythmias, with normal or altered ventricular systolic function. Cardiac magnetic resonance (CMR) studies suggest frequent late gadolinium enhancement (LGE) involving septal mid-myocardium. Aims To assess the added value of CMR to conventional clinical features of Lamin A/C CM for the prediction of a positive LMNA gene testing. Methods We performed a retrospective monocentric study in all index patients referred for genetic testing for a clinical suspicion of Lamin A/C CM. Clinical, ECG and imaging data including CMR at time of genetic testing in patients with a positive test (LMNA+) and patients without (LMNA-) were compared. The diagnostic performances of relevant parameters for the prediction of a positive LMNA gene testing were analyzed in several logistic regression models. Results 90 patients were included (55 LMNA+, 35 LMNA-).49% had significant left ventricular (LV) dilatation on echocardiography,57% had a LV ejection fraction (LVEF)<50%, 46% had a significant left atrial dilatation, and 17% had right ventricular dysfunction. None of these parameters were different comparing LMNA+ and LMNA- patients. LMNA+ patients had significantly more frequent familial history of sudden cardiac death (SCD) or CM. There were no significant differences between LMNA+ and LMNA- patients in terms of conduction disorders, ventricular and supra-ventricular arrhythmias. The only significant difference on ECG was a more frequent abnormal R-wave progression in V1-V3 in LMNA+ patients (87.8% vs 39.4%, p < 0.001). 55 patients had a CMR (28/55 LMNA+, 27/35 LMNA-). The main reason for not performing CMR was the presence of cardiac implantable electronic device. LMNA+ patients had significantly more LGE than LMNA- (20/28 (71%) vs 9/27 ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/ehjci/jeaa356.395 |
| الإتاحة: | https://doi.org/10.1093/ehjci/jeaa356.395Test http://academic.oup.com/ehjcimaging/article-pdf/22/Supplement_1/jeaa356.395/36214680/jeaa356.395.pdfTest |
| حقوق: | https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_modelTest |
| رقم الانضمام: | edsbas.E9806DBA |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/ehjci/jeaa356.395 |
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