Clinical, electrical and morphological cardiac disorders in Marfan patients with FBN1 mutations - 06/01/20
Résumé |
Introduction |
Marfan syndrome (MFS) is responsible for cardiovascular disorders such as aortic aneurism and mitral valve prolapse (MVP). A malignant clinical, electrical and morphological MVP phenotype is associated with sudden cardiac death. We studied the relations between MFS and the clinical and electrical abnormalities linked with MVP.
Purpose |
The aim of this study is to describe the clinical, electrical and morphological cardiac abnormalities in a cohort of MFS patients with FBN1 mutations, and compare them with their healthy relatives.
Methods |
All patients coming in for screening at the national coordinating Reference Center for Marfan syndrome, were prospectively evaluated, i.e. we performed a clinical examination, a 12-lead electrocardiogram, standard transthoracic echocardiography and molecular genetic screening.
Results |
A total of 353 consecutive patients were included from April 2015 to October 2016 [250 FBN1 mutation carriers (MFS) and 103 healthy relatives (Nl)]. MFS patients were younger (33 vs. 41yo P<0.001) and 2/3 were women in both groups. In MFS, negative T waves in lateral derivations were more frequent [72 MFS (29.51%) vs. 14 Nl (14.71%) P<0.0028], as was MVP (94 patients (37.6%) vs. 2 (1.94%)) (P<0.0001), and diastolic basal inferolateral wall hypertrophy (27% vs. 1.8%; (P<0.0001)). Mitral valve prolapse affected either one valve (57.2%), or both (42.8%). In MFS, diastolic basal inferolateral wall hypertrophy was associated with mitral valve prolapse (P=0.0011) and longer QTc (P<0.05)
Conclusion |
We found a significant association between Marfan FBN1 disease, basal inferolateral wall hypertrophy, and negative lateral T waves on ECG. In addition, MVP, basal inferolateral wall hypertrophy and longer QTc were associated in this population.
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Vol 12 - N° 1
P. 99 - janvier 2020 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.