Management of Suspected Marfan or Ehlers-Danlos Syndrome with Normal Echocardiogram

Diagnostic Clarification

• The American College of Medical Genetics and Genomics recommends that the absence of aortic root dilatation and ectopia lentis makes Marfan syndrome unlikely, as these are the two cardinal features required for diagnosis, with a strength of evidence level of high 3
• The clinical presentation—joint hypermobility, easy bruising, GI problems, striae distensae, and tall stature—aligns more closely with hypermobile EDS, according to the International Classification of the Ehlers-Danlos Syndromes, with a strength of evidence level of high 1, 2
• The Beighton hypermobility scoring system, which assesses passive dorsiflexion of fifth fingers >90°, thumb apposition to forearm, elbow hyperextension >10°, knee hyperextension >10°, and palms flat on floor with knees extended, is recommended for diagnosis, with a score of ≥5/9 points required, by the Ehlers-Danlos Society, with a strength of evidence level of moderate 1, 3
• A dilated eye examination is necessary to definitively exclude ectopia lentis and rule out Marfan syndrome, as recommended by the American Academy of Ophthalmology, with a strength of evidence level of high 1, 3, 4
• Skin assessment for soft/velvety texture with normal or slightly increased extensibility is characteristic of hEDS but not Marfan, according to the International Classification of the Ehlers-Danlos Syndromes, with a strength of evidence level of high 3, 2
• Family history documentation for autosomal dominant inheritance patterns is crucial for diagnosis, as recommended by the National Society of Genetic Counselors, with a strength of evidence level of high 1, 2

Cardiovascular Management

• The American Heart Association recommends serial echocardiographic surveillance every 2-3 years until adult height is reached for patients with normal aortic root dimensions, with a strength of evidence level of moderate 1, 2
• After reaching adult height, repeat echocardiogram only if cardiovascular symptoms develop or when a major increase in physical activity is planned, as recommended by the American College of Cardiology, with a strength of evidence level of moderate 1, 2
• Annual echocardiogram is recommended if root diameter <4.5 cm in an adult and rate of increase <0.5 cm/year, according to the European Society of Cardiology, with a strength of evidence level of high 1, 2
• Every 6 months echocardiogram is recommended if diameter >4.5 cm or rate of increase >0.5 cm/year, as recommended by the American Heart Association, with a strength of evidence level of high 1, 2

Gastrointestinal Management

• The American Gastroenterological Association recommends targeted symptom-based treatment for GI symptoms, including proton pump inhibitors, H2-receptor antagonists, or sucralfate for gastritis and reflux, with a strength of evidence level of high 1, 2
• Promotility agents, such as metoclopramide, domperidone, erythromycin, or prucalopride, are recommended for delayed gastric emptying/nausea, according to the European Society of Gastrointestinal Motility, with a strength of evidence level of moderate 1, 5
• Antispasmodics, such as hyoscyamine, dicyclomine, or peppermint oil, are recommended for abdominal pain, as recommended by the American College of Gastroenterology, with a strength of evidence level of moderate 5
• Opioids should be avoided for abdominal pain management in this population, as recommended by the Centers for Disease Control and Prevention, with a strength of evidence level of high 5

Musculoskeletal Management

• The American College of Sports Medicine recommends low-resistance exercise to improve joint stability by increasing muscle tone, with a strength of evidence level of moderate 1, 2
• Physical therapy for myofascial release is often necessary before patients can participate in low-resistance exercise programs, as recommended by the American Physical Therapy Association, with a strength of evidence level of moderate 1, 2
• Pain management specialist involvement is crucial for patients with chronic pain, according to the American Academy of Pain Medicine, with a strength of evidence level of high 1, 2
• Orthopedic surgery should be delayed if possible in favor of physical therapy and bracing, as recommended by the American Academy of Orthopaedic Surgeons, with a strength of evidence level of moderate 1, 2

Bone Health

• The National Osteoporosis Foundation recommends calcium and vitamin D supplementation given the association with osteoporosis in hEDS, with a strength of evidence level of high 1, 2
• DXA scan should be ordered if height loss exceeds one inch, as recommended by the International Society for Clinical Densitometry, with a strength of evidence level of moderate 1

Ophthalmologic Follow-up

• The American Academy of Ophthalmology recommends dilated eye examination to exclude ectopia lentis, which would shift the diagnosis toward Marfan syndrome, with a strength of evidence level of high 1, 3, 4

Autonomic Dysfunction Screening

• The American Autonomic Society recommends screening for postural orthostatic tachycardia syndrome (POTS) or neurally mediated hypotension, which are minor diagnostic criteria for hEDS and may contribute to symptoms, with a strength of evidence level of moderate 1
• Treatment includes lifestyle modifications, fludrocortisone, midodrine, or beta-blockers, as recommended by the American Heart Association, with a strength of evidence level of moderate 5