Valvular & structural heart disease
Mitral annular disjunction and its progression during childhood in Marfan syndrome
Authors' conclusion
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.
Study context
- Population
- Patients <21 years old with Marfan syndrome (MFS) (2010 Ghent criteria and pathogenic FBN1 variant or ectopia lentis)
- Participants
- 185 eligible patients
- Outcome
- Prevalence of MAD (MV-LV separation ≥2 mm), its diagnostic yield by echocardiography and CMR, and its progression during childhood
Main finding
As reported in the abstract
Mitral annular disjunction (MAD) detected
60%
110/185
Observational data: associations, not effects.
Further findings
MV prolapse (MVP) and MAD overlap
- MVP in MAD
- 48% (53/110)
- MAD in MVP
- 90% (53/59)
Agreement of MAD detection, CMR vs echocardiography
- Overall agreement
- 96%
- Kappa
- 0.89, P < 0.001
- Estimate bias
- 0.32 mm (95% CI 0.00, 0.65)
ICC (reliability)
- Echocardiography
- 0.97 (95% CI 0.93, 0.98)
- CMR
- 0.92 (95% CI 0.79, 0.97)
- Between modalities
- 0.91 (95% CI 0.85, 0.94)
Association of MAD with aortic root dilation
- MAD associated with aortic root dilation
- P < 0.001
Longitudinal change of MAD · median 5.5 years (IQR 3.1, 7.5 years)
- MAD increase
- +0.18 mm/year (95% CI +0.14, +0.22)
- MAD indexed by height (constant)
- +0.0002 mm/m/year (95% CI −0.0002, +0.0005 mm/m/year)
- Univariable mixed-effects linear regression
Original publication
Composed by AI from the published abstract and checked against it. How Briefs are made →