AAP Health Supervision for Children with Marfan Syndrome

Question 1

What is the prevalence of Marfan syndrome?

Answer 1

1 in 5000 people affected

Question 2

What is the inheritance pattern for Marfan syndrome?

Answer 2

Autosomal dominant disorder

FBN1 gene for protein fibrillin

Question 3

What are the Revised Ghent Diagnostic Criteria for Marfan Syndrome?

Answer 3

Diagnosis of definitive Marfan syndrome (any of the following):

1. Aortic root >/= 2 z score and ectopia lentis
2. Aortic root >/= 2 z score and FBN1 mutation
3. Aortic root >/= 2 z score and systemic score >/= 7
4. Ectopia lentis and FBN1 mutation known to be associated with Marfan syndrome
5. Positive family history of Marfan syndrome and ectopia lentis
6. Positive family history of Marfan syndrome and systemic score >/= 7
7. Positive family history of Marfan syndrome and aortic root >/= 3 z score in those <20y of age or >/=2 z score in those >20y of age

Diagnosis of potential Marfan syndrome:
1. FBN1 mutation with aortic root with a z score <3 in those <20yo

Question 4

What is the systemic scoring system for the Revised Chest Diagnostic Criteria for Marfan Syndrome?

Answer 4

Wrist and thumb sign = 3
Wrist or thumb sign = 1
Pectus carinatum = 2
Pectus excavatum or chest asymmetry = 1
Hindfoot deformity (e.g. valgus) = 2
Pes planus = 1
Pneumothorax = 2
Dural ectasia = 2
Protrusio acetabulae = 2
Reduced upper to lower segment and increased arm-span-to-height ratio = 1
Scoliosis or thoracolumbar kyphosis = 1
Reduced elbow extension = 1
Craniofacial features 3 of the following: dolichocephaly, downward-slanting palpebral fissures, enophthalmos, retrognathia, and malar hypoplasia = 1
Skin striae = 1
Myopia = 1
Mitral valve prolapse = 1

Question 5

What is the differential diagnosis syndromes with overlapping features of Marfan Syndrome?

Answer 5

1. Mitral valve syndrome: mitral valve prolapse, skeletal manifestations
2. MASS phenotype: mitral valve prolapse, myopia, non-progressive aortic dilation, non-specific skin and skeletal features
3. Familial ectopia lentis: eye and skeletal findings of Marfan syndrome
4. Shprintzen-Goldberg syndrome: skeletal and cardiac findings of Marfan syndrome, craniosynostosis;
   hypertelorism; proptosis; abdominal hernias; joint laxity; developmental delay/intellectual disability
5. Weill-Marchesani syndrome (autosomal dominant form): ectopia lentis, short stature, brachydactyly, characteristic facial features
6. Loeys-Dietz syndrome: Skeletal and cardiovascular features of Marfan syndrome; no ectopia lentis; aggressive dilation of large- and medium-sized arteries; most common and unique features include hypertelorism, bifid uvula/cleft palate, blue sclerae, developmental delays, hydrocephalus, translucent skin, arterial tortuosity, and craniosynostosis