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Mitral Annular Disjunction and CV Outcomes in Marfan Syndrome
Quick Takes
- The presence of mitral annular disjunction (MAD) in Marfan syndrome (MFS) patients is associated with arrhythmic events and a higher need for mitral valve intervention.
- For patients with extensive MAD, consistently worse cardiovascular (CV) outcomes were noted including higher occurrence of aortic events, arrhythmic events, and the need for mitral valve surgery.
- The presence and extent of MAD may be useful to better assess the risk of adverse CV outcomes among patients with MFS and patients with MFS and significant MAD may require close clinical follow-up and Holter monitoring.
Study Questions:
What is the prevalence of mitral annular disjunction (MAD) and its association with cardiovascular (CV) outcomes and arrhythmia among patients with Marfan syndrome (MFS)?
Methods:
The investigators conducted a retrospective, single-center cohort study that included 142 patients with a diagnosis of MFS based on the revised Ghent criteria and a confirmed (likely) pathogenic variant in the FBN1 gene. Patients underwent regular follow-up between January 1, 2004, and December 31, 2019. The presence of MAD was assessed by echocardiography, and the extent of MAD was categorized in tertiles. Patients also underwent resting electrocardiography and 24-hour Holter monitoring. Outcomes included aortic events (aortic dissection or prophylactic aortic surgery), arrhythmic events (defined as sustained ventricular tachycardia or sudden cardiac death), and mitral valve surgery. Categorical data were reported as proportions or percentages, and comparisons between groups were performed using the χ2 test or the Fisher exact test.
Results:
A total of 142 patients (72 female patients [51%]; median age at first examination, 25 years [range, 2-64 years]) were evaluated. Forty-eight patients (34%) had MAD. Patients with MAD had larger aortic root z scores than patients without MAD (4.1 [interquartile range, 2.8-5.7] vs. 3.0 [interquartile range, 1.8-4.0]; p < 0.001) and more often had mitral valve prolapse (34 of 48 [71%] vs. 14 of 94 [15%]; p < 0.001), ventricular ectopy (14 of 33 [42%] vs. 15 of 70 [21%]; p = 0.03), and nonsustained ventricular tachycardia (13 of 33 [39%] vs. 12 of 70 [17%]; p = 0.01). During follow-up, aortic events occurred at similar rates among patients with versus without MAD (15 of 43 [35%] vs. 21 of 84 [25%]; p = 0.24), but patients in the upper MAD tertile (>10 mm) showed a higher occurrence of aortic events compared with patients with MAD of 10 mm or smaller (9 of 15 [60%] vs. 6 of 28 [21%]; p = 0.01). Patients with arrhythmic events (n = 5) and patients requiring mitral valve surgery (n = 7) were observed exclusively in the group displaying MAD.
Conclusions:
The authors concluded that MAD among patients with MFS is associated with the occurrence of arrhythmic events, a higher need for mitral valve intervention, and, among patients with extensive MAD, more aortic events.
Perspective:
This single-center cohort study reports that the presence of MAD in MFS patients is associated with arrhythmic events and a higher need for mitral valve intervention, without significant differences in aortic events. However, for patients with extensive MAD, consistently worse CV outcomes were noted including higher occurrence of aortic events, arrhythmic events, and the need for mitral valve surgery. These data suggest that assessment of the presence and extent of MAD may be useful to better assess the risk of adverse CV outcomes among patients with MFS and that patients with MFS and significant MAD may require close clinical follow-up and Holter monitoring.
Clinical Topics: Arrhythmias and Clinical EP, Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Invasive Cardiovascular Angiography and Intervention, Noninvasive Imaging, Prevention, Valvular Heart Disease, Vascular Medicine, Implantable Devices, EP Basic Science, SCD/Ventricular Arrhythmias, Atrial Fibrillation/Supraventricular Arrhythmias, Cardiac Surgery and Arrhythmias, Cardiac Surgery and CHD and Pediatrics, Cardiac Surgery and VHD, Congenital Heart Disease, CHD and Pediatrics and Arrhythmias, CHD and Pediatrics and Imaging, CHD and Pediatrics and Interventions, Interventions and Imaging, Interventions and Structural Heart Disease, Interventions and Vascular Medicine, Echocardiography/Ultrasound
Keywords: Arrhythmias, Cardiac, Aneurysm, Dissecting, Cardiac Surgical Procedures, Death, Sudden, Cardiac, Diagnostic Imaging, Echocardiography, Electrocardiography, Ambulatory, Heart Defects, Congenital, Heart Valve Diseases, Marfan Syndrome, Mitral Valve Prolapse, Secondary Prevention, Tachycardia, Ventricular, Ventricular Premature Complexes
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