Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Early Onset MFS (eoMFS) and Marfanoid–Progeroid–Lipodystrophy Syndrome (MPLS)
3.2. Classical MFS in Children
3.2.1. Cardiovascular (CV) Involvement
- Patients may exhibit congenital cardiovascular defects (MVP, neonatal dilated aortic root (rare), and associated congenital heart defects (CHDs)). However, CV involvement is often an age related penetrance feature. In other words, progressive aspects can prevail.
- Although CV involvement in MFS is a major component contributing to morbidity and mortality, the CV system can remain intact in a certain proportion of individuals (including adults) with MFS. In other words, CV manifestations can occur in up to 50 to 75% of MFS population. This percentage is under-represented in children due to the potential progressive nature of the disease.
- CV features are not limited to classical aortic dilatation. MFS might be considered a prototype for CV involvement in joint hypermobility disorders. CV changes can be structural (e.g., changes in the bicuspid aortic valve (BAV) and abnormal MVP), progressive (e.g., plurivalvular regurgitation and aortic root dilatation), dysfunctional (hypertension and primary myocardial changes (cardiomyopathy—CMP)), or arrhythmic (second cause of sudden cardiac death—SCD in MFS).
Aorta
- Conservative management
- Surgical management of aortic dilatation
Valves
- Tricuspid valve
Mitral Valve
Cardiomyopathy (CMP)
Arrhythmias
- Supraventricular (SV) and ventricular arrhythmias
- Repolarization disorders
3.2.2. Eye
3.2.3. Musculoskeletal and Bone
3.2.4. Systemic Manifestations
4. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Baban, A.; Parlapiano, G.; Cicenia, M.; Armando, M.; Franceschini, A.; Pacifico, C.; Panfili, A.; Zinzanella, G.; Romanzo, A.; Fusco, A.; et al. Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care. J. Cardiovasc. Dev. Dis. 2024, 11, 114. https://doi.org/10.3390/jcdd11040114
Baban A, Parlapiano G, Cicenia M, Armando M, Franceschini A, Pacifico C, Panfili A, Zinzanella G, Romanzo A, Fusco A, et al. Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care. Journal of Cardiovascular Development and Disease. 2024; 11(4):114. https://doi.org/10.3390/jcdd11040114
Chicago/Turabian StyleBaban, Anwar, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, and et al. 2024. "Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care" Journal of Cardiovascular Development and Disease 11, no. 4: 114. https://doi.org/10.3390/jcdd11040114