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Connecting the Pieces with Multi-System Disease: Marfan's Syndrome -…
Connecting the Pieces with Multi-System Disease:
Marfan's Syndrome
Epidemiology
autosomal dominant disorder; genetic mutation for the gene encoding fibrillin-1, an elastin-matrix glycoprotein that is essential for the formation and integrity of transforming growth factor beta (TGF-beta)
Treatment
Non-Pharmacological
Psychological support
Avoidance in rigorous sports/activities
Pharmacological
Prophylactic beta-blockers to reduce MAP and PR
Losartan, an angiotensin-II receptor antagonist to prevent or possibly reverse aortic root dilation and other systemic alterations
Surgical
Prophylactic aortic root surgery
Repair lens dislocation or other ocular deformities that may occur
Orthopedic issues
Orthodontic issues
Management
Regular visits to: Geneticist, ophthalmologist, cardiologist, and orthopedic surgeon
Diagnosis
Thorough Family History
Systemic features
specifically presence of ectopia lentis and increased diameter of aortic root
Physical
Risk Factors
~2/3 cases are due to familial transmission
further paternal age is associated with sporadic mutations
Manifestations
Signs/Systems Effected
Ocular
lens dislocation, closed-angle glaucoma, high myopia
Skeletal
arachnodactyly, hypermobility, arthralgia, joint instability, finger contractures, pectus excavatum or carinatum deformities, misshapen chest, kyphoscoliosis, protrusio acetabuli and hindfoot disformity
Pulmonary
pleural rupture causing pneumothorax
Nervous
dural ectasia hernias presenting with lower back pain and symptoms akin to cauda equina syndrome or chronic postural headache due to CSF leakage
Cardiovascular
thoracic aortic dilation, rupture, dissection, regurgitation, mitral valve prolapse, mitral regurgitation, abdominal aortic aneurysm, cardiac dysrhythmia
Physical facial appearances
maxillary or mandibular retrognathia, long face and high, arched palate, enophthalmos, downslanting palpebral fissues and malar hypoplasia
Integumentary
striae (esp. thoracolumbar and sacral
Symptoms
disproportionally tall/thin
unusually long arms/legs
can be asymptomatic
often present with abnormally long fingers and toes
Laboratory Testing
molecular genetic testing
Ecocardiography
CT scan
Holter monitoring
MRI scan of spine
X-ray of pelvic area
Complications
Difficulty with pregnancy
cardiovascular disease
psychological difficulties
Risk of recurrent aneurysms
define
connective tissue disorder with multi-system alterations
though severe, chronic, and life-threatening, can expect to have near-normal life expectancy with medical treatment