The added value of contrast-enhanced cardiac magnetic resonance to predict positive genetic testing in clinically suspected Lamin A/C cardiomyopathy
| Autor: | T. Le Tourneau, S Clero, Nicolas Piriou, Jean-Noël Trochu, A.L Constant Dit Beaufils, J.M. Serfaty, P Delhommeau, Aurélie Thollet, K Warin Fresse, E Conan, V Probst, Matilde Karakachoff, O Rousseau, F. Kyndt, L Marteau |
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| Rok vydání: | 2021 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty media_common.quotation_subject Cardiomyopathy Sudden cardiac death Internal medicine medicine Contrast (vision) Radiology Nuclear Medicine and imaging cardiovascular diseases Systole media_common Genetic testing Ejection fraction integumentary system medicine.diagnostic_test business.industry Cardiac arrhythmia Atrial fibrillation General Medicine medicine.disease embryonic structures cardiovascular system Cardiology Cardiology and Cardiovascular Medicine Cardiac magnetic resonance business Lamin |
| Zdroj: | European Heart Journal - Cardiovascular Imaging. 22 |
| ISSN: | 2047-2412 2047-2404 |
| Popis: | 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) Conclusion CMR, particularly septal mid-myocardium LGE, carries good diagnostic accuracy to predict a positive LMNA gene testing in clinically suspected Lamin A/C CM with increased specificity when added to conventional red flags. Abstract Figure. Logistic regression models performances |
| Databáze: | OpenAIRE |
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