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Review
. 2024 Apr 3;11(4):114.
doi: 10.3390/jcdd11040114.

Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care

Anwar Baban  1 , Giovanni Parlapiano  1 , Marianna Cicenia  2 , Michela Armando  3 , Alessio Franceschini  2 , Concettina Pacifico  4 , Arianna Panfili  1 , Gaetano Zinzanella  5 , Antonino Romanzo  5 , Adelaide Fusco  6 , Martina Caiazza  6 , Gianluigi Perri  7 , Lorenzo Galletti  7 , Maria Cristina Digilio  8 , Paola Sabrina Buonuomo  8 , Andrea Bartuli  8 , Antonio Novelli  9 , Massimiliano Raponi  10 , Giuseppe Limongelli  6   11
Affiliations
Review

Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care

Anwar Baban et al. J Cardiovasc Dev Dis. .

Abstract

Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.

Keywords: Marfan Syndrome; age related penetrance; children; multidisciplinary management; multisystemic; personalized approach; variability.

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Conflict of interest statement

The authors declare that the study was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Revised Ghent criteria for MFS diagnosis. Abbreviations: Ao, aorta; EL, ectopia lentis; FBN1 +: FBN1 positive genetic analysis; FH, family history; y, years; MFS, Marfan syndrome; Syst, systemic; Z, Z-score.
Figure 2
Figure 2
Systemic score of revised Ghent criteria for MFS diagnosis and possible multisystemic involvements in MFS. Please note the three principal aspects involved in MFS are indicated in green: cardiovascular, ocular, and musculoskeletal/bone criteria.
Figure 3
Figure 3
(a) Organ/systemic clinical assessment at diagnosis of MFS in children. (b) Organ/systemic clinical assessment in the surveillance of MFS in children.
Figure 4
Figure 4
Flowchart for MFS cardiac involvement, adapted from our institution as the regional referral center for children with MFS. Abbreviations: angio-MRI, angio-magnetic resonance imaging; ARB, angiotensin II receptor blockers; CT-scan, computed tomography scan; ECG, electrocardiogram; MFS, Marfan syndrome; S&S, signs and symptoms.
See this image and copyright information in PMC

References

    1. Dietz H. GeneReviews®. University of Washington; Seattle, WA, USA: 2001. Marfan Syndrome.
    1. Lodato V., Parlapiano G., Calì F., Silvetti M.S., Adorisio R., Armando M., El Hachem M., Romanzo A., Dionisi-Vici C., Digilio M.C., et al. Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart? J. Cardiovasc. Dev. Dis. 2022;9:47. doi: 10.3390/jcdd9020047. - DOI - PMC - PubMed
    1. Corson G.M., Chalberg S.C., Dietz H.C., Charbonneau N.L., Sakai L.Y. Fibrillin Binds Calcium and Is Coded by CDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5′ End. Genomics. 1993;17:476–484. doi: 10.1006/geno.1993.1350. - DOI - PubMed
    1. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., Grody W.W., Hegde M., Lyon E., Spector E., et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015;17:405–424. doi: 10.1038/gim.2015.30. - DOI - PMC - PubMed
    1. Pereira L., D’Alessio M., Ramirez F., Lynch J.R., Sykes B., Pangilinan T., Bonadio J. Genomic Organization of the Sequence Coding for Fibrillin, the Defective Gene Product in Marfan Syndrome. Hum. Mol. Genet. 1993;2:961–968. doi: 10.1093/hmg/2.7.961. - DOI - PubMed

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