Mitral annulus disjunction is associated with adverse outcome in Marfan and Loeys–Dietz syndromes

Abstract

Aims We aimed to assess the prevalence of mitral annulus disjunction (MAD) and to explore the association with aortic disease and mitral valve surgery in patients with Marfan syndrome (MFS) and Loeys–Dietz syndrome (LDS). Methods and results We included consecutive MFS patients fulfilling Revised Ghent Criteria and LDS patients fulfilling Loeys–Dietz Revised Nosology. MAD was identified by echocardiography and was quantified as the longitudinal distance from the ventricular myocardium to the hinge point of the posterior mitral leaflet. Aortic events were defined as aortic dissection or prophylactic aortic surgery. We recorded the need of mitral valve surgery including mitral valve repair or replacement. We included 168 patients (103 with MFS and 65 with LDS). The prevalence of MAD was 41%. MAD was present in all age groups. Aortic events occurred in 112 (67%) patients (27 with dissections and 85 with prophylactic surgical interventions). Patients with MAD were younger at aortic event than those without MAD (log rank = 0.02) Patients with aortic events had greater MAD distance in posterolateral wall [8 (7–10) mm vs. 7 (6–8) mm, P = 0.04]. Mitral events occurred more frequently in patients with MAD (P < 0.001). Conclusion MAD was highly prevalent in patients with MFS and LDS. MAD was a marker of severe disease including aortic events at younger age and need of mitral valve surgery. Screening patients with MFS an LDS for MAD may provide prognostic information and may be relevant in planning surgical intervention. Detection of MAD in patients with MFS and LDS may infer closer clinical follow-up from younger age.

Clinical features and complications of Loeys-Dietz syndrome: A systematic review

“…In studies with serial follow-up, rates of aortic root dilation ranged from 0.11-0.67 cm/year (13,20,29), with children with LDS type 2 demonstrating the greatest progression of aortic root dilation compared to LDS type 1 and 4 (30). Several studies have also identified a correlation between the presence of craniofacial features (13,14), carotid artery tortuosity (31), vertebral artery tortuosity (32), aortic arch geometry (33), aortic stiffness (34), and mitral annular disjunction (35) with increased aortic risk. Aortic root dilation in children should lead to the suspicion of connective tissues disorders, including LDS.…”

Imaging Considerations and Clinical Implications of Mitral Annular Disjunction

“…The first diagnosed MAD in 41% of 168 patients with either Marfan syndrome or Loeys-Dietz and found that MAD was associated with more mitral valve surgery and younger age at aortic dissection or prophylactic surgical repair. 56 Another recent article reported that 34% of 142 patients with Marfan syndrome had MAD as diagnosed by TTE. 57 Patients with MAD had larger aortic root z scores and more MVP, ventricular ectopy, and NSVT.…”

Arrhythmic Mitral Valve Prolapse and Mitral Annulus Disjunction in Heritable Aortic Disease

“…(4) Up to 40% of patients with MFS and Loeys-Dietz syndrome demonstrate echocardiographic evidence of MAD, which was associated with aortic events at a younger age and a greater need for mitral surgery. Furthermore, MAD was more common in patients with documented VA. (5) With emerging clinical experience linking MAD and MVP to a risk of SCD, this case series highlights three patients who present with features of malignant MVP and MAD with underlying HAD. It is unclear whether this highlights a unique disease entity with a common pathophysiologic substrate, represents unique patients with overlap syndromes, or introduces MAD as an arrhythmogenic risk marker in aortopathy syndromes.…”

“… 4 Up to 40% of patients with MFS and Loeys–Dietz syndrome demonstrate echocardiographic evidence of MAD, which is associated with aortic events at a younger age and a greater need for mitral surgery. Furthermore, MAD is more common in patients with documented VA. 5 …”