Marfan Syndrome Flashcards
What is the genetic inheritance pattern and mutation associated with a patient who is very tall, has a floating eye lens, and complaining of chest pain radiating to their bacK?
Marfan syndrome is an autosomal dominant disorder caused by a mutation in the fibrillin-1 (FBN1) gene on chromosome 15.
Defect in elastin as this gene maintains this protein under normal conditions.
What physical exam signs may be observed in Marfan syndrome?
Positive thumb sign (thumb tip extends laterally in a clenched fist).
Positive wrist sign (also called the Walker Murdoch sign where the thumb and fifth finger overlap each other when the wrist is grasped).
Hyperextensible skin.
Pes planus (flat feet).
What are the common cardiovascular manifestations of Marfan syndrome?
Cardiovascular manifestations include:
- mitral valve prolapse (“myxomatous degeneration of valve”)
- aortic regurgitation
- aortic aneurysm
- aortic dissection (“cystic medial necrosis”)
- aortic root dilation
What is the most common valvular complication in Marfin syndrome?
mitral valve prolapse
“myxomatous degeneration of valve”
What ocular findings are common in Marfan syndrome?
Ocular findings include ectopia lentis (lens dislocation), where the eye lens floats up and away as opposed to the lens subluxation seen in Homocystinuria, where the lens floats down and inwards towards the nose.
Other conditions include severe myopia and an increased risk of retinal detachment.
Patients require frequent eye examinations.
What musculoskeletal features are characteristic of Marfan syndrome?
Musculoskeletal features include tall stature, long extremities (arachnodactyly), joint hypermobility, pectus deformities (carinatum or excavatum), scoliosis, and kyphosis.
What pulmonary complications can occur in Marfan syndrome?
Pulmonary complications include lung bullae and spontaneous pneumothorax.
What CNS manefestations can occur from in a patient with Marfan syndrome?
Subarachnoid hemorrhage.
What lifestyle modifications are recommended for patients with Marfan syndrome?
Patients should avoid contact sports and activities that place significant stress on the cardiovascular system.
What diagnostic methods are used for Marfan syndrome?
Diagnosis is based on:
1) clinical presentation.
2) family history.
3) genetic testing for FBN1 mutations.
What is the recommended management and follow-up for patients with Marfan syndrome?
Management includes annual echocardiograms (TTE) to monitor the aorta, beta blockers or ARBs to reduce aortic stress, regular eye exams, and surgery for significantly enlarged aortas.
What is the most life-threatening complication of Marfan syndrome?
The most life-threatening complication is aortic dissection.
“cystic medial necrosis”
This has a sudden onset, tearing chest pain, radiating to the back (between scapula).
When a patient who has a history of Marfan syndrome presents with a sudden onset of severe chest pain and hypertension, the top of the differential should be aortic dissection and the first line management is a beta-blocker (labetolol). Do not treat with Hydralazine as this is associated with worsened morbidity.
