Mitral Annular Disjunction and Its Progression during Childhood in Marfan Syndrome

Tam T Doan; Alejandra Iturralde Chavez; Santiago O Valdes; Justin D Weigand; James C Wilkinson; Anitha Parthiban; Sara B Stephens; Ricardo H Pignatelli; Shaine A Morris

doi:10.1093/ehjci/jeae125

Mitral Annular Disjunction and Its Progression during Childhood in Marfan Syndrome

Eur Heart J Cardiovasc Imaging. 2024 May 10:jeae125. doi: 10.1093/ehjci/jeae125. Online ahead of print.

Authors

Tam T Doan^{1

2}, Alejandra Iturralde Chavez^{1

2}, Santiago O Valdes^{1

2}, Justin D Weigand^{1

2}, James C Wilkinson^{1

2}, Anitha Parthiban^{1

2}, Sara B Stephens^{1

2}, Ricardo H Pignatelli^{1

2}, Shaine A Morris^{1

2}

Affiliations

¹ Division of Cardiology, Texas Children's Hospital, 6651 Main Street MC-E1920, Houston, Texas 77030, USA.
² Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

PMID: 38728377
DOI: 10.1093/ehjci/jeae125

Abstract

Background: Data on mitral annular disjunction (MAD) in children with Marfan syndrome (MFS) are sparse.

Objectives: To investigate the diagnostic yield of MAD by echocardiography and cardiac magnetic resonance imaging (CMR), its prevalence and progression during childhood.

Methods: We included patients <21 years old with MFS, defined by 2010 Ghent criteria and a pathogenic FBN1 variant or ectopia lentis. Two readers measured systolic separation between the mitral valve (MV) posterior hinge point and left ventricular (LV) myocardium on initial and subsequent imaging. MAD was defined as MV-LV separation ≥2 mm, MV prolapse (MVP) as atrial displacement ≥2 mm. Kappa coefficients evaluated echocardiogram-CMR agreement. Bland-Altman and intraclass correlation coefficients (ICC) assessed interrater and intermodality reliability. Univariable mixed-effects linear regression was used to evaluate longitudinal changes of MAD.

Results: MAD was detected in 60% (110/185) eligible patients. MVP was present in 48% (53/110) of MAD and MAD in 90% (53/59) of MVP. MAD detection by CMR and echocardiography had 96% overall agreement (Kappa = 0.89, p < 0.001) and a 0.32-mm estimate bias (95%CI 0.00, 0.65). ICC by echocardiography, CMR, and between modalities were 0.97 (95%CI 0.93, 0.98), 0.92 (95%CI 0.79, 0.97), and 0.91 (95%CI 0.85, 0.94), respectively. MAD was associated with aortic root dilation (p < 0.001). MAD was found in children of all ages, increased +0.18 mm/year (95%CI +0.14, + 0.22) during a median duration of 5.5 years (IQR 3.1, 7.5 years). MAD indexed by height yielded a constant value +0.0002 mm/m/year (95%CI -0.0002, + 0.0005 mm/m/year).

Conclusions: MAD was common in pediatric MFS and was associated with aortic root dilation. MAD detection by echocardiography and CMR was highly reliable, suggesting that routine assessment in MFS is feasible. MAD was present in neonates and progressed over time but remained constant when indexing by height. Further studies are needed to evaluate MAD as a biomarker for clinical outcomes in pediatric MFS.

Keywords: Aortic root dilation; Cardiac magnetic resonance imaging; Children; Echocardiography; Marfan syndrome; Mitral annular disjunction.