Evaluation for Marfan Syndrome and Related Connective Tissue Disorders
This triad of myopia, scoliosis, and joint hypermobility should prompt immediate evaluation for Marfan syndrome (MFS) and related heritable connective tissue disorders, as these features together represent classic pleiotropic manifestations that can signal life-threatening aortic complications. 1
Why This Combination Matters
The constellation of myopia, scoliosis, and joint hypermobility is not coincidental—these features frequently co-occur in connective tissue disorders:
- Joint hypermobility occurs in over 50% of patients with idiopathic scoliosis (compared to only 19% of controls), suggesting an underlying connective tissue abnormality 2
- High myopia is strongly associated with connective tissue hyperelasticity, with myopic patients showing significantly higher joint hypermobility scores (5.95 points) compared to controls (2.7 points) 3
- These three features together warrant systematic evaluation for Marfan syndrome, as they represent age-dependent manifestations of underlying connective tissue pathology 1
Critical First Steps: Rule Out Life-Threatening Conditions
Immediate Cardiovascular Assessment Required
The most urgent priority is evaluating for aortic root dilatation and mitral valve prolapse, as these determine mortality risk: 1
- Obtain echocardiography to assess aortic root diameter and valve function 1
- Screen for family history of aortic aneurysms, dissections, or sudden cardiac death 1
- Document any history of "cystic medial necrosis" in deceased relatives, even if MFS was never formally diagnosed 1
Comprehensive Ophthalmologic Examination
An ophthalmologist experienced with Marfan features must evaluate for ectopia lentis (lens dislocation): 1
- Ectopia lentis is a major diagnostic criterion for MFS and occurs rarely outside of specific connective tissue disorders 1
- Myopia in this context may represent axial elongation due to scleral hyperelasticity, not simple refractive error 3
- High myopia (≥-6.00 D) increases risk of retinal complications including detachment, requiring ongoing monitoring 4
Diagnostic Framework
Apply the 2017 Diagnostic Criteria
The evaluation should systematically assess for:
Marfan Syndrome (requires specific combinations of major and minor criteria): 1
- Aortic root dilatation or dissection
- Ectopia lentis
- Systemic features including skeletal manifestations (scoliosis, pectus deformities, disproportionate stature)
- Dural ectasia (if diagnosis unclear, MRI/CT of lumbosacral spine may be warranted) 1
Hypermobile Ehlers-Danlos Syndrome (hEDS) if MFS criteria not met: 5, 6, 7
- Generalized joint hypermobility (Beighton score ≥5/9 for adults, higher thresholds for children) 6
- Skin hyperextensibility or tissue fragility 5
- Absence of other EDS variants (which have identifiable genetic mutations) 5
Hypermobility Spectrum Disorders (HSD) if hEDS criteria not fully met: 5, 7
- This descriptive diagnosis fills the gap between asymptomatic joint hypermobility and hEDS 5
- Still requires multisystem management despite not meeting full hEDS criteria 7
Essential Family Evaluation
Personally examine parents and siblings, as many diagnostic features are clinically silent: 1
- Scoliosis, striae atrophicae, disproportionate stature, MVP, and aortic root dilatation may be unrecognized by family members 1
- All these conditions except arterial tortuosity syndrome follow autosomal dominant inheritance 1
- Variable expression and age-dependency mean younger relatives may show fewer features 1
Management of Individual Components
Myopia Management
Correct refractive error with eyeglasses as first-line treatment: 1, 8
- For myopia <-6.00 D: standard spectacle or contact lens correction 4
- For high myopia ≥-6.00 D: inform patient of increased risk of retinal thinning, peripheral retinal degeneration, retinal detachment, cataracts, and myopic choroidal neovascularization 4
- Screen children with myopia every 1-2 years due to progressive nature during childhood and adolescence 4
Consider myopia control interventions in children: 1
- Low-concentration atropine reduces myopia progression 1
- Increased outdoor time is protective against myopia onset 1
- Multifocal spectacles, multifocal contact lenses, and orthokeratology show variable effectiveness 1
Scoliosis Management
The presence of joint hypermobility significantly impacts scoliosis treatment planning: 2
- Joint hypermobility is more prevalent in single-curve scoliosis (thoracic only) than double-curve patterns 2
- Physiotherapy techniques that increase joint mobility may be contraindicated in patients with underlying hypermobility 2
- Physical therapy should focus on proprioceptive training and joint stabilization rather than mobility enhancement 6
Joint Hypermobility Management
Physical therapy is central to management but must be appropriately tailored: 6, 7
- Avoid aggressive stretching or mobility-enhancing techniques, as these can cause iatrogenic injury 6
- Focus on strengthening, proprioceptive training, and joint protection strategies 6, 7
- Address coordination deficits and teach patients to avoid hyperextension during activities 6
- Psychological support and self-management education are beneficial based on available evidence 7
Common Pitfalls to Avoid
Never dismiss this triad as coincidental—the co-occurrence of myopia, scoliosis, and joint hypermobility has significantly higher prevalence in connective tissue disorders than expected by chance 1, 3, 2
Do not delay cardiovascular evaluation—aortic complications determine mortality risk and require immediate assessment 1
Avoid labeling as "benign joint hypermobility" without excluding systemic disorders—many patients with hEDS/HSD experience chronic pain, fatigue, orthostatic intolerance, functional GI disorders, and pelvic/bladder dysfunction that significantly impact quality of life 7
Do not apply standard scoliosis physiotherapy protocols without considering hypermobility—techniques that increase mobility can worsen symptoms and cause injury 2, 6
Never initiate aggressive myopia interventions (like pilocarpine) without dilated fundus examination—patients with connective tissue disorders have increased retinal detachment risk 1, 4
Ongoing Monitoring Requirements
Establish longitudinal care with appropriate specialists: 1, 7
- Cardiology for serial echocardiography if aortic involvement present 1
- Ophthalmology for annual monitoring of high myopia complications 4
- Orthopedics or specialized scoliosis clinic for curve progression 2
- Primary care physician to coordinate multidisciplinary team and manage extra-articular manifestations 7