Top Resources for Doctors
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Top Research
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+ Increased Survival: 95% chance of death by age is an outdated statistic
+ Official Diagnostic Criteria: Clear clinical diagnostic guidelines to help manage care
+ Simplified MV Surgery Technique: Success rate for simplified mitral valve repair for pediatric connective tissue patients
+ Expert guidance: AHA Scientific Statement for the Cardiovascular Management of Pediatric Aortopathy
Top Research
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Clinical scoring system for early onset (neonatal) Marfan syndrome
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Our proposed scoring system additionally provides a mechanism for differentiating between individuals with eoMFS and those who present with classical MFS. Given the substantial morbidity and decreased life expectancy observed in eoMFS being able to distinguish this condition early gives parents and medical providers greater insight into expectations and prognosis.
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2022, Zarate, Yuri A. et al., Genetics in Medicine, Volume 24, Issue 7, 1503 - 1511
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Diagnostic scoring criteria found in "Supplemental Material," with interactive scoring system found here.
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Cardiovascular Outcomes and Survival in Patients With Early-onset Marfan Syndrome
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Conclusion: In our cohort, the median age of patients with early-onset Marfan syndrome is higher than previously reported ages of death, suggesting patients are living longer. The high rate of successful mitral and aorticsurgery may be contributing to this increased lifespan.
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2022, Beecroft T., et. al., International Symposium on Marfan Syndrome, LDS, and Related Conditions, p 75.​
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​This document provides a general framework for cardiovascular management of aortopathy in children, while allowing for modification based on the personal and familial characteristics of each child and family.
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2024, Morris S.A., et. al., American Heart Association. Circulation, Volume 150 • Number 11 • PubMed: 39129620
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Simplified Mitral Valve Repair in Pediatric Patients with Connective Tissue Disorders
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In pediatric patients with connective tissue disorders (CTDs), early cardiac presentation often involves severe mitral regurgitation (MR) associated with severe bileaflet prolapse and, less frequently, aortic root enlargement. We adopted a simplified repair to address MR and prevent systolic anterior motion (SAM) in this unique group of patients. Conclusions: In pediatric patients with CTD and severe MR, a simplified approach is associated with intermediate-term competence, absence of SAM or significant stenosis, and regression of left ventricular enlargement.
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2017, Vricella LA, Ravekes WA, Arbustini E, et al., J Thorac Cardiovasc Surg. 2017;153(2):399-403. doi:10.1016/j.jtcvs.2016.09.039
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FDA Warns About Fluoroquinolone Antibiotics in People with Marfan Syndrome
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Health care professionals should avoid prescribing fluoroquinolone antibiotics to patients who have an aortic aneurysm or are at risk for an aortic aneurysm, such as patients with certain genetic conditions such as Marfan syndrome. Prescribe fluoroquinolones to these patients only when no other treatment options are available.
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2017, December. See also Marfan Foundation's Professional Advisory Board Statement
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Connecting with Specialists
+ The following multi-disciplinary centers specialize in pediatric connective tissue disorders, with particular expertise in neonatal Marfan syndrome. They are listed here for second opinions based on known neonatal Marfan patient volume, as well as parent experience and recommendations:
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+ Also based on neonatal Marfan patient volume, as well as parent experience and recommendation, a thoracic surgeon with extensive expertise in neonatal Marfan mitral valve repair and replacement, as well as valve-sparing aortic root surgery, is:
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Luca A. Vricella, MD, University of Chicago
​*This is not meant to be a comprehensive list. Nor a ranking. For a complete list of pediatric connective tissue specialists based on location, see Marfan Foundation's Institutional Directory here.
​​​​​​​​**See medical disclaimer here.
About Neonatal Marfan
Neonatal Marfan syndrome (also called early-onset or infantile Marfan syndrome) is a term used to designate a severe presentation of Marfan syndrome that is evident in early infancy and shows rapid progression during childhood.
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In 2022, experts developed and proposed standardized diagnostic criteria for neonatal Marfan syndrome to differentiate it from traditional Marfan syndrome. (You can access the diagnostic criteria quiz and full article here).
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In general terms, most doctors use neonatal Marfan syndrome to describe children who have striking outward characteristics at the time of birth, as well as significant cardiovascular (heart) involvement in very early infancy. Particularly pronounced features often include long extremities and fingers, joint laxity and contractures, a characteristic facial appearance with deeply set and downward slanting eyes and/or crumpled ears, loose and redundant skin, poor feeding, breathing difficulties, enlarged cornea or glaucoma, and severe prolapse and leakage through the mitral and/or tricuspid heart valves that can lead to poor squeeze of the heart muscle (heart failure).
Other findings typical of milder forms of Marfan syndrome can also be present including pectus deformity (indented or protruding chest), scoliosis (curved back), nearsightedness, aortic root dilatation (enlargement), and eye lens dislocation.
Neonatal Marfan syndrome is the worst end of the spectrum and, even within the neonatal Marfan patients, there is a range in severity, depending on the combination of features and the severity of the individual components.(1)
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Outdated research and information cause most doctors to give up on a child with neonatal Marfan.
But here, there is hope. It's a life worth living.
What Causes Neonatal Marfan Syndrome?
Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, which encodes the protein fibrillin-1. Mutations along the entire length of the gene can cause Marfan syndrome. Mutations that cause neonatal Marfan syndrome (also known as early-onset or infantile Marfan syndrome) most often cluster in exons 23–32 of the gene. However, neonatal Marfan may also arise due to mutations outside this region. Similarly, mutations in exons 23–32 of the FBN1 gene may also lead to classical or even mild Marfan syndrome.
It has been suggested that mutations in exons 25 and 26 are associated with shorter survival in children diagnosed with Marfan syndrome before the age of 1 year, but this is based on a limited and perhaps biased experience. (2)
Managing Care
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[Additional research is underway to develop specific protocols for neonatal Marfan syndrome. To participate in this research study, click here. +]