Which specialists should be involved in diagnosing Marfan syndrome in pediatric patients?

Specialist Involvement for Diagnosing Marfan Syndrome in Pediatric Patients

A medical geneticist should be the primary specialist to establish the diagnosis of Marfan syndrome in children, working in close collaboration with a pediatric cardiologist and an ophthalmologist experienced in connective tissue disorders. 1

Core Diagnostic Team

Medical Geneticist (Primary Diagnostic Role)

• Medical geneticists are the specialists most frequently consulted and best equipped to make the definitive diagnosis of Marfan syndrome in pediatric patients. 1
• They apply the revised Ghent criteria systematically, calculate systemic scores, interpret family pedigrees, and coordinate genetic testing when indicated. 1
• Medical geneticists distinguish Marfan syndrome from overlapping conditions including Loeys-Dietz syndrome, Ehlers-Danlos syndrome, congenital contractural arachnodactyly, and MASS phenotype—all of which can mimic Marfan features in children. 1

Pediatric Cardiologist (Essential for Life-Threatening Complications)

• Cardiologists are frequently consulted alongside medical geneticists for tall, thin children suspected of having Marfan syndrome, primarily to assess the risk of aortic root dilatation and dissection. 1
• Echocardiography is mandatory at diagnosis to establish baseline aortic root dimensions at the annulus, sinuses of Valsalva, sinotubular junction, and ascending aorta with Z-score calculations. 2, 3
• Aortic root dilatation is usually present even in early childhood and serves as an objective diagnostic indicator—virtually all children with Marfan syndrome develop aortic disease at some point. 2, 4
• Pediatric cardiologists also evaluate for mitral valve prolapse and regurgitation, which are common in childhood Marfan syndrome and represent the leading cause of cardiovascular morbidity in this age group. 2, 4

Ophthalmologist (Critical for Definitive Ocular Findings)

• A dilated slit-lamp examination performed by an ophthalmologist experienced with Marfan syndrome is essential to definitively identify or exclude ectopia lentis. 1, 3
• This examination must be performed with pupils fully dilated to properly visualize lens subluxation. 1
• Ectopia lentis alone, when combined with a family history of Marfan syndrome, is sufficient for diagnosis under the revised Ghent criteria. 3

Additional Specialists for Comprehensive Management

Multidisciplinary Team Approach

• A multidisciplinary team including neonatologists (for neonatal presentations), orthopedists, physiatrists, and physical therapists should be assembled for comprehensive management, though they are not required for establishing the initial diagnosis. 5, 6
• This broader team addresses skeletal manifestations (scoliosis, pectus deformities, joint hypermobility) and quality of life issues but does not replace the core diagnostic triad. 6

Critical Diagnostic Pitfalls to Avoid

Common Referral Errors

• Do not rely solely on primary care providers or sports medicine physicians to make the diagnosis—they appropriately raise suspicion but lack the specialized expertise to apply diagnostic criteria and distinguish overlapping syndromes. 1
• The echocardiogram showing normal aortic root dimensions does NOT exclude Marfan syndrome in children, as manifestations are age-dependent and may evolve over time. 1, 7

Loeys-Dietz Syndrome Exception

• When Loeys-Dietz syndrome is suspected (characteristic facial features, bifid uvula, arterial tortuosity), echocardiography alone is insufficient—CT or MRI angiography of the entire arterial tree from head to pelvis is mandatory because dissection occurs at normal aortic diameters. 1
• This condition requires different surgical thresholds and more aggressive monitoring than classic Marfan syndrome. 1, 3

Family History Assessment

• Personally examining siblings and parents of the suspected child is essential, not just obtaining historical information, as many relatives have undiagnosed or misdiagnosed conditions. 1
• Medical and autopsy records should be obtained when family members died of "aneurysms" to determine the specific vessel involved and whether cystic medial necrosis was documented. 1

Diagnostic Algorithm for Pediatric Patients

1. Initial suspicion by primary care provider based on tall stature, long limbs, chest wall deformity, or family history 1

2. Referral to medical geneticist for systematic evaluation using revised Ghent criteria and systemic score calculation 1, 3

3. Concurrent cardiology evaluation with transthoracic echocardiography measuring all aortic segments with Z-scores 2, 3

4. Ophthalmology consultation for dilated slit-lamp examination to assess for ectopia lentis 1, 3

5. Genetic testing (FBN1 and comprehensive aortopathy gene panel) when clinical criteria are equivocal or for family cascade testing 3

6. Follow-up at 6 months to establish rate of aortic enlargement if baseline shows any dilatation 2