Marfan Syndrome

Resident’s Name: Derek Banks Date: October 3, 2008

Syndrome: Marfan Syndrome
Incidence: Anywhere between 1:10,000 to 1:3,000 live births. It is panethnic and has equal distribution among males and females.
Etiology: Autosomal dominant. About 75% of those effected have a parent with Marfan Syndrome. The remainder are accounted for by spontaneous mutations. The fibrillin-1 gene encodes the glycoprotein fibrillin, a major building block of microfibrils, which constitute the structural components of the suspensory ligament of the lens and which serve as substrates for elastin in the aorta and other connective tissues. Abnormalities involving microfibrils weaken the aortic wall. Progressive aortic dilatation and eventual aortic dissection occur because of tension caused by left ventricular ejection impulses. Likewise, deficient fibrillin deposition leads to reduced structural integrity of the lens zonules, ligaments, lung airways, and spinal dura
Features (Craniofacial/Physical): Individuals with Marfan Syndrome have a characteristic “stretched” appearance, with elongated limbs and digits. Scoliosis is common, as is pectus excavatum. Typical facies include dolichocephaly, malar hypoplasia, enopthalmos, retrognathia, and downward-slanting palpebral fissures.
Features (Medical): Ocular findings may include glaucoma, cataracts, retinal detachment decreased miosis, and other ocular problems. Cardiac features include dilatation of the aorta (70-80%) and/or pulmonary artery that, when severe, requires surgical intervention to avoid aortic aneurysm (which is fatal). Mitral valve prolapse is present 55-69% of the time. Spontaneous pneumothorax can occur in 5% of individuals with Marfan Syndrome.
Dental Implications: Dental crowding and a v-shaped and/or highly arched palate are very common. This can, at times lead to a posterior crossbite. Most are class 2 (retrognathic), and may be more prone to TMD (anecdotal – no hard evidence of this). Appropriate medical consultations should be sent for these patients, as antibiotic prophylaxis may be recommended for these patients (The advisory board of the National Marfan Foundation says, regarding antibiotic prophylaxis for dental procedures: “given the propensity of individuals with Marfan syndrome formultivalvular dysfunction, myxomatous valve changes, and other cardiovascular disease and/or systemic illness that can predispose to infection or hamper recovery from endocarditis, and given the low burden and risk associated with the use of antibiotics for endocarditis prophylaxis, the Professional Advisory Board (PAB) of the NMF finds a compelling argument for the continued use of antibiotics in people with Marfan syndrome and valve dysfunction that is consistent with the spirit of the recent modification of AHA guidelines.” So despite the specifics given by the AHA, experts on the cardiac anomalies associated with Marfan Syndrome recommend antibiotic prophylaxis in most cases. Of note, if patient’s aortic distension is severe, and patient is at high risk for aortic aneurysm, an elevation in systolic BP can cause aneurysm to occur. Might not be a bad idea to have on hand a recent cardiology report and consider all measures that may help maintain the dental patient calm and BP low. Also, we may ask parents if the child is being followed by a team e.g. multiple specialists including genetics, cardiology, ophthalmology, pulmonology, psychology etc…
Recent Findings: If a patient has Marfan-like symptoms, or has been diagnosed with Marfan Syndrome, it is important we check to see if the patient has a bifid uvula. If they do, they may have a related syndrome called Loeys-Dietz Syndrome (a recently identified syndrome). Patients with this syndrome may have aneurysms in other areas in the arterial tree besides the aorta, and so management is different than that of Marfan Syndrome. As dentists, we may play a crucial role in the diagnosis of this condition (Loeys-Dietz) as well as Marfan Syndrome.
Miscellaneous/Summary: If we know what to look for we may aid in diagnosis. If we know what we’re dealing with, we can treat our patients safely. Either way we could very well be saving a life.