Clinical Scoring for
Neonatal Marfan
In 2022, experts developed and proposed standardized diagnostic criteria for neonatal Marfan syndrome (also called early-onset or infantile Marfan syndrome) to differentiate it from traditional Marfan syndrome. This advancement enables earlier identification and intervention, improving the chances of positive outcomes for affected infants.​
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An interactive scoring system is provided below.
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(Citations and additional information about the scoring system below.)
Diagnosis requires 14 or more points (maximum 33) if only Clinical score (I+II);
or 16 or more points (maximum 38) if Total score (I+II+III)
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Absence of features or genetic testing suggestive of other connective tissue disorders​​. ​Click here for the diagnostic test for traditional Marfan syndrome. ​​​​​​
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*a Defined as middle finger length >2SD for age or disproportionately long appearing fingers compared to the palm
*b Involving small joints (fingers or toes), large joints (elbows and knees) or a combination of them
*c At least two of the following must be present: enophthalmos, hyperterlorism, frontal bossing, down-slanted palpebral
fissures, large or crumpled low-set ears, high-arched palate, dolichocephaly, redundant facial skin, micro or retrognathia; or described as "senile appearance"
*d based on the full 66 exon transcript (GenBank reference sequence NM_000138.4)​
See examples of common neonatal/early-onset/infantile Marfan features here, such as enophthalmos, down-slanted palpebral fissures, redundant factual skin, and long fingers and feet (from Supplementary Material).
NOTE: This scoring system may not be usable for patients with a late diagnosis.​​​
NOTE: While every effort is made to ensure accuracy, you should double-check your score.​​
​​​​​Early identification is crucial because it allows for:
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Timely interventions: Doctors can start treatment sooner.
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Informed decisions: Families and medical providers can make more informed choices about care.
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Realistic expectations: Everyone involved has a clearer understanding of the potential challenges and prognosis.​​​​
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You are not alone in this journey. We're here to help.
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CITATION
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A clinical scoring system for early onset (neonatal) Marfan syndrome
A. Zarate ∙ Shaine A. Morris ∙ Anna Blackshare ∙ Claudia A. Algaze ∙ Brynn S. Connor ∙ Andrew J. Kim ∙ Katherine E. Yutzey ∙ Erin M. Miller ∙ Kathryn Nicole Weaver ∙ Ronnie Thomas Collins, II
Genetics in Medicine, Volume 24, Issue 7, 1503 - 1511
Full article found here
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Methods
On the basis of an extensive literature review and the responses from a survey distributed among providers with expertise in the diagnosis and management of eoMFS, we developed an age-based, diagnostic scoring system encompassing 10 features common to eoMFS (9 clinical + 1 laboratory) and divided them into cardiac, systemic, and FBN1 (on the basis of the location of the pathogenic FBN1 variant) scores.
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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. Individuals with eoMFS often develop progressive mitral valve regurgitation and related clinical heart failure, which may necessitate surgical intervention early on in life. Such surgeries can additionally be technically challenging when performed in infants and young children, with the potential for significant associated morbidity if valve replacement is required. In addition, an early diagnosis may help direct more aggressive medical therapies that can slow the often rapid aortic dilation seen in eoMFS.
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Finally, we caution that the proposed criteria are intended to assist in the clinical diagnosis of eoMFS; however, according to our current data, the proposed criteria cannot be used for prognostic purposes once the diagnosis is made. A larger prospective study that evaluates the utility of these criteria in an unselected cohort of individuals is needed to further validate them in this regard.
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Continue reading full article here.