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 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 most life-threatening complication of Marfan syndrome?
The main cause of morbidity and mortality in patients with Marfan syndrome is aortic root disease, manifesting as aneurysmal dilation, aortic regurgitation, and/or dissection.
“cystic medial necrosis”
Aortic dissection typically presents with sudden-onset, tearing chest pain radiating to the back, often between the scapulae. Patients with Marfan syndrome should undergo an echocardiogram prior to participating in sports. If aortic root disease or a family history of aortic dissection or sudden death is identified, they should avoid strenuous physical activity, with intense or contact sports (e.g., track, basketball, football is generally restricted). In a patient with Marfan syndrome presenting with sudden severe chest pain and hypertension, aortic dissection should be at the top of the differential diagnosis. First-line management involves administration of a beta-blocker, such as labetalol, to reduce heart rate and blood pressure. Hydralazine should be avoided as it can worsen morbidity by increasing shear stress on the aortic wall.
What CNS manefestations can occur from in a patient with Marfan syndrome?
Subarachnoid hemorrhage, but this is more common in Ehlers-Danlos syndrome. MRI/MRA of the brain can identify berry aneurysms, which occur more commonly in Ehlers-Danlos syndrome, in contrast to aortic aneurysms in MFS. Joint hypermobility and skin hyperextensibility are characteristic of Ehlers-Danlos syndrome.
What is the recommended management and follow-up for patients with Marfan syndrome?
Management includes an echocardiogram (TTE) at the time of diagnosis and then annually to monitor the aorta. This is also medically managed with beta blockers or ARBs to reduce aortic stress, regular eye exams, and surgery for significantly enlarged aortas.
