Cardiovascular Manifestation of a Family with Marfan’s Syndrome Thereafter, all the members of the patient’s family were examined by a single cardiologist and ophthalmologist. It transpired that the patient’s father, two brothers, and two sisters were also afflicted with MFS; only the patient’s mother and one brother were healthy. The diagnosis of MFS was fully confirmed via the Ghent nosology (1996). It should be mentioned, however, that unfortunately, genetic analysis was not feasible in Birjand. Since then, all the members of this family have been visited periodically by a cardiologist and an ophthalmologist. In total, there are 11 individuals with MFS in this family, and we think MFS with such severe genetic penetration is rare (Figure 5). In our patients, mitral valve involvement as manifested by mitral valve prolapse and mitral regurgitation was the most common cardiac involvement (Table1), followed by the dilatation of the aortic root and aortic insufficiency. Two family members (second boy and second girl) underwent surgery for aortic dissection via the Bental procedure, during which aortic root graft and aortic valve replacement were performed. All the family members have undergone echocardiography annually for the past ten years; and if aortic root dilatation exceeds 40 mm, treatment with a beta blocker is commenced. Table 1. Patients’ characteristics Case Cardiac Involvement Fifth grandchild Normal No MVP, Mitral valve prolapse; MR, Mitral regurgitation; AI, Aortic insufficiency; AVR, Aortic valve replacement; ARD, Aortic root dimension Despite medical advice to the contrary, two female members of this family have had three pregnancies during this ten-year period. In these women, the aortic root dimension Father First daughter Second daughter First Son Second Son Third Son First grandchild Second grandchild Third grandchild Fourth grandchild MVP, MR, AI ARD=31mm MVP, MR ARD=30mm MVP, MR, AI ARD=45mm MVP, MR, AI ARD=47mm MVP, MR MVP, MR ARD=45mm MVP, MR MVP, MR MVP, MR MVP, MR Complication no Two pregnancies without complication One pregnancy without complication, Surgery for threatened aortic dissection Surgery for aortic dissection & AVR No No No No No No TEHRAN HEART CENTER was < 45mm before pregnancy; during and after pregnancy, however, this diameter did not change significantly. The pregnant women were treated with beta blockers and were monitored with echocardiography. Fortunately, all the three pregnancies ended with normal vaginal deliveries without complications. Two of these 3 children have already been diagnosed with MFS. At the time of this report, the youngest was 6 months old and his status was not determined. Discussion Marfan’s syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait.1 Currently, the main diagnostic criterion is the Ghent nosology, according to which a positive family history associated with the involvement of at least two organs is the basis of diagnosis. In the members of the same family, major involvement in one organ system and involvement in a second organ system are required to make the diagnosis.3 Cardiovascular manifestations in MFS include valvular disease involving the mitral valve, aortic valve, or both. Mitral valve prolapse is the most prevalent valvular abnormality, affecting 35%-100% of patients. Mitral regurgitation occurs in 25% of patients and is more common in women and children. Enlarged aortic root occurs in 15%-44% of patients and may distort the aortic valve cusps and produce aortic regurgitation.5 Beta blockers play an important role in delaying aortic expansion and progression to rupture or dissection. Indeed, the rate of surgical intervention has declined during the past decade because of the widespread use of beta blockers. Furthermore, beta-blocker therapy retards aortic growth in children and adolescents with MFS, not least when the aortic root diameter is more than 40 mm. Anticoagulation therapies such as warfarin are required after heart-valve replacement; and prior to any surgery or dental procedure, antibiotic therapy is necessary to prevent bacterial endocarditis.6 Cardiovascular surgery prolongs the survival of patients with MFS. Emergency surgical replacement of the aortic root is indicated for acute proximal aortic dissection. If the diameter of the aortic root exceeds 55 - 60 mm, the ascending aorta is replaced via the modified Bentall procedure, in which the dilated aortic segment is exchanged with a prosthetic valve sewn into a tube graft in conjunction with the re-implantation of the coronary ostia.7 Over the past ten years, of all the eleven family members introduced here, two underwent acute aortic dissection in 2004, 2008; they are currently stable and receive propranolol and warfarin. Pregnancy in women with MFS increases the probability of not only developing acute aortic dissection but also having an affected child in 50% of the cases. Therefore, women with MFS should be counseled before conception about the risk of pregnancy-related complications and the risk of transmitting The Journal of Tehran University Heart Center39