| Organ system | Features that may be present | Management implications |
| Cardiovascular | - Aortic root aneurysm
- Aortic regurgitation
- Aortic dissection
- Mitral valve prolapse and mitral regurgitation
| - Monitor the thoracic aortic diameter and aortic regurgitation to identify indications for elective aortic root repair.*
- Monitor mitral regurgitation for indications for mitral valve intervention.
- Treat with beta blocker or angiotensin receptor blocker therapy.
- Avoid calcium channel blockers and fluoroquinolones.
- Review activity restrictions.
- Provide preconception counseling about maternal risks during pregnancy.
- Manage pregnancy by a high-risk maternal-fetal medicine, cardiology, and/or multidisciplinary pregnancy heart team.*
|
| Skeletal | - Tall stature
- Facial changes (dolichocephaly, enophthalmos, downslanting palpebral fissures, small jaw)
- High-arched palate
- Kyphoscoliosis
- Arachnodactyly
- Pectus excavatum or pectus carinatum
- Flat feet
- Joint hypermobility
| - Treat scoliosis with bracing and surgical correction if indicated.
- Surgically correct severe pectus deformities or arthropathies if indicated.
- Provide shoe inserts or orthotics.
|
| Eye | - Lens dislocation
- Flat cornea
- Hypoplasia of the iris or ciliary muscles
- Early myopia
- Glaucoma
- Risk for retinal detachment
| - Provide ophthalmologic surveillance.
- Provide eye care including timely vision correction for myopia and photocoagulation for retinal tears and detachment.
|
| Neurologic | | - Manage symptoms of back pain, headaches, and leg pain as needed.
|
| Lungs | - Emphysematous changes and bullae
- Spontaneous pneumothorax
| - Have a low threshold for evaluating for pneumothorax.
- Provide a definitive surgical procedure for frequent pneumothoraces (generally surgical pleurodesis).
|
| Skin | - Striae distensae
- Inguinal or incisional hernias
| - Consider mesh for hernia repair if needed.
|
| Genetics | - Autosomal dominant
- Inherited in three-fourths; de novo in one-fourth
| - Provide genetic counseling and testing for family members.
- Provide preconception counseling (if possible; if not, as soon as possible after pregnancy is established).
|
