Epidemiology
- Prevalence: 5 per 10k persons
Etiology
- Autosomal dominant with variable penetrance
- Some cases have mutation on chromosome 15
Physiology
- Abundant type I collagen: espcially in skeleton (resulting in long limbs, arachnodactyly, pectus excavatum, kyphoscoliosis), eyes, (resulting in subluxation of lens), and cardiovascular systme (resulting in aortic or mitral regurgitation, aortic aneurysm)
Diagnosis
- ABG:
- PFT’s: increased airway reactivity (reported in children with Marfan’s)
Clinical
Pulmonary Manifestations
(10-15% of cases have intrinsic pulmonary manifestations)
(50% of cases have thoracic cage manifestations)
- Emphysema (see [[COPD]])
- May occur at any age
- May be fatal in childhood in some cases
- Apical Bullae (see [[Cystic-Cavitary Lung Lesions]])
- May be striking finding in young patients
- Apical fibrotic changes may also be seen in some cases
- Spontaneous Pneumothorax (see [[Pneumothorax]])
- Occurs in 5-10% of cases: this is 100x higher risk than that of the general population
- Occurs due to rupture of subpleural bullae (espcially involveing the apices): emphysematous changes are commonly present in these cases
- May be recurrent and bilateral
- Congenital Malformation of Middle Lobe: may occur
- Middle lobe may be absent or rudimentary
- Increased Risk of Pneumonia:
- Increased Risk of Obstructive Sleep Apnea:
- Pectus Excavatum:
- When isolated, seldom associated with pumnary abnormalities
–Kyphoscoliosis: may be associated with fatal cor pulmonale in some cases
- When isolated, seldom associated with pumnary abnormalities
Cardiac Manifestations
- Aortic Dissection or Root Dilatation/AI (see [[Aortic Insufficiency]])
- Sinus of Valsalva Aneurysm (see [[Sinus of Valsalva Aneurysm]])
- Mitral Regurgitation
- Mitral Valve Prolapse
Other Manifestations
- Tall Body Habitus
- Long Limbs
- Subluxation of Lens of Eye
- Arachnodactyly
Treatment
- No effective treatment
Prognosis
- Decreased life expectancy is largely due to cardiac manifestations
References
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