Background Mitral valve prolapse is a common finding in patients with Marfan and Loyes-Dietz syndrome. Mitral annulus disjunction (MAD), an atrial displacement of the hinge point of the mitral valve, has previously been associated with non-syndromic MVP and life-threatening ventricular arrhythmias. Purpose We aimed to assess the prevalence of MAD in patients with Marfan and Loyes-Dietz syndrome and relate the presence of MAD to mitral valve prolapse. Methods We included genotype positive patients with Marfan and Loyes-Dietz syndrome, and patients with Marfan syndrome fulfilling Revised Ghent Criteria. Mitral valve prolapse was defined as superior mitral leaflets' displacement ≥2mm beyond the mitral annulus. MAD was diagnosed by echocardiography and quantified as the distance from the ventricular myocardium to the hinge point of the posterior mitral leaflet (Figure, left panel). Results We included 111 patients with Marfan syndrome and 66 patients with Loyes-Dietz syndrome (age 26 [IQR, 13–39] years, 53% male). Mitral valve prolapse was observed in 54 (31%) and MAD in 74 (42%) patients. Longitudinal MAD distance was 8 (IQR, 6–10) mm. Forty-six (85%) patients with mitral valve prolapse had concomitant MAD, p<0.001 (Figure, right panel). Conclusion Mitral valve prolapse was observed in one third of patients with Marfan and Loyes-Dietz syndrome. MAD was highly prevalent and found in 42% of all patients and in 85% of those with mitral valve prolapse. Presence of mitral valve prolapse in Marfan and Loyes-Dietz syndrome should raise awareness of MAD which may be of importance in follow-up and monitoring of these patients. Funding Acknowledgement Type of funding source: Public Institution(s). Main funding source(s): Health Authority of South Eastern Norway
Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): South-Eastern Norway Regional Health Authority Background Mitral valve prolapse is a common finding in patients with Marfan (MFS) and Loeys-Dietz syndromes (LDS). Mitral annulus disjunction (MAD) is an atrial displacement of the hinge point of the mitral valve that frequently coexists with mitral valve prolapse, but its clinical relevance in connective tissue disorders is unknown. Purpose To explore the association between MAD and severity of mitral valve and aortic disease in patients with MFS and LDS. Methods We included consecutive MFS patients and LDS patients fulfilling established diagnostic criteria. MAD was identified by echocardiography and defined as the distance from the ventricular myocardium to the hinge point of the posterior mitral leaflet (Figure, panel A). Aortic surgery was defined as emergency surgery for aortic dissection or prophylactic aortic surgery for aortic aneurysm. We recorded the need of mitral valve surgery including mitral valve repair or replacement. Results We included 168 patients of whom 103 (61%) had MFS and 65 (39%) had LDS. We identified MAD in 69 (41%) patients. Aortic surgery was performed in 112 (67%) patients (27 dissections and 85 prophylactic interventions). Patients with MAD were younger at the time of aortic surgery than those without MAD (p log rank = 0.02) (Figure, panel B). Patients needing aortic surgery had greater MAD distance (8 [7-10] mm vs. 7 [6-8] mm, p = 0.04). Mitral valve surgery was performed in 12 (7%) patients, more frequently in patients with MAD than in those without (16% vs. 1%, p < 0.001, p log rank < 0.001) (Figure, panel C). Conclusion MAD was frequent and detected in 41% of patients with MFS and LDS. MAD was associated with a more severe disease phenotype including aortic surgery at younger age and frequent need for mitral valve surgery. Screening patients with MFS and LDS for MAD may provide prognostic information and may be relevant in planning surgical interventions. Abstract Figure
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