Clinical, electrical and morphological cardiac disorders in Marfan patients with FBN1 mutations

Abstract

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. 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. 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. 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) 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.