Csanz guidelines for the diagnosis and management of marfan syndrome page 3 2. The 2010 thoracic aortic disease guidelines advocate avoidance of pregnancy if the aortic root diameter. The genetic defect occurs in a protein called fibrillin1, which plays a large role in the formation of your connective tissue. Decisions about family planning can be difficult and very emotional when one of the prospective parents has a genetic disorder, such as marfan syndrome. Risk of pregnancy is relatively low in women with minimal cardiac involvement and an aortic root diameter 40 mm, though pregnancy risk does exceed baseline risk in any woman with marfan syndrome, even with an apparently normal aorta. The most serious complications involve the heart and aorta, with an increased risk of. You are born with it and you will have it all your life. Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in tgfbr1 or 2. Pregnancy may accelerate this process because of effects on connective tissue. Pregnancy and the postpartum period is a highrisk time for aortic dissection. The pregnancy in a woman affected by marfan syndrome falls under highrisk category. There is current controversy regarding whether a controlled vaginal delivery or a.
Marfan syndrome is an autosomal dominant inherited condition, which means it occurs equally in both men and women and can be passed down from either parent with marfan. In the united states, anticoagulation during pregnancy is usually accomplished with subcutaneous injections of heparin. Methods retrospective observational study of women with mfs delivering between january 1998 and march 2018 in 12 uk centres reporting data on maternal and neonatal outcomes. Pdf marfan syndrome, which was originally described in the 19th century, is an autosomal dominant connective tissue disease associated.
Marfan syndrome is a disorder that affects connective tissue. The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome. Advances in medical care have made it possible for people with marfan syndrome to live a normal lifespan if they are diagnosed and treated properly. As pregnancy is contraindicated in women with enlarged aortic roots, contraception should be used at least until. It is usually passed from parent to child through the genes. An aortic dissection can have catastrophic effects and it is the leading cause of death in individuals with marfan syndrome. People with marfan syndrome are usually very tall and thin. Marfan syndrome named after dr antoine marfan, the french doctor who first described it in 1896 is a genetic disorder. Aug 08, 2018 marfan syndrome named after dr antoine marfan, the french doctor who first described it in 1896 is a genetic disorder.
The decision about whether or not to pursue a pregnancy when a woman has a diagnosis of marfan syndrome is a complicated and individualized decision. The treatment plan is customized according to the patients needs. Dna diagnostic services for fbn1 testing for mfs and related clinical entities tgfbr1, tgfbr2 are available. Any pregnancy in a woman affected by marfan syndrome should be considered highrisk a term obstetricians use and her aorta should be evaluated by echocardiography at least every three months. Marfan syndrome mfs is an autosomal dominant hereditary disorder of the connective tissue, in which involvement of the cardiovascular, skeletal, ocular and other systems may be present 14. Prenatal diagnosis is now technically possible by genetic linkage, or directly if a mutation has been detected in the affected parent prior to the foetus reaching 11. Marfan syndrome can affect many parts of the body, such as. Handbook of genetic counselingmarfan syndrome wikibooks.
Pregnancy in the marfan syndrome is associated with two primary problems. Marfan syndrome may also be associated with an increase in obstetric complications, including preterm delivery, preterm prelabour rupture of membranes, cervical incompetence, poor fetal outcome, and postpartum haemorrhage. Oxytocin antagonism prevents pregnancyassociated aortic. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest.
In addition, we report on two cases where deterioration in lv function occurred during pregnancy in women with mfs. In the case of women with marfan syndrome, pregnancy and the subsequent delivery place further stress on the already compromised cardiovascular system, especially the weak aorta. Marfan syndrome is a serious condition, and some complications are potentially lifethreatening. Its a connective tissue disorder that affects my whole body, including my heart. Mar 18, 2020 pregnancy seems to increase the risk of aortic dissection in women with marfan syndrome on account of bloodvessel alterations, particularly in the third trimester. Seattle, washington, and philadelphia, pennsylvania t h e m a r f a n s y n dr o m e is an inherited disease of unknown etiology representing a disorder of connective tissue metabolism which is named after b. They also typically have flexible joints and scoliosis. Pregnancy in mfs presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus, hence.
Pregnancy in women with marfan syndrome mfs presents challenges to. Marfan, a french physician who first described the peculiar skeletal features of the. The guidance in this report is designed to assist the pediatrician in recognizing the features of marfan syndrome as well as caring for the individual with this disorder. Whilst there are a number of case reports of aortic dissection occurring in pregnancy or the early postpartum period in women with marfan s syndrome, researchers have identified a relatively low risk group of women who have tolerated pregnancy well, with a low risk of adverse cardiac events. I was lucky to find someone to point me in the right direction and hopefully this blog post can be your place to start. Through this study, we report successful treatment of standford type a aortic dissection in a pregnant marfan syndrome patient. Patients with marfan syndrome have tall stature, long arms and legs a nd characteristic changes in the extremities, particularly long and spiderlike fingers, an arm span greater than height. Marfan syndrome is a disorder of connective tissue. Marfan syndrome background marfan syndrome is an autosomal dominant connective disease which primarily involves the cardiovascular, musculoskeletal and ocular systems. Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels cardiovascular system. Abnormalities of hemostasis have been described in patients having heritable disorders of connective tissue, namely the ehlersdanlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and marfans syndrome. You can think of it as a type of glue between cells.
The most serious complication in patients with mfs is aod, and the risk is substantially increased during pregnancy and the postpartum period pp 4,810,12. Marfan syndrome management and treatment cleveland clinic. Overview the prognosis of patients with mfs has improved with the use of beta blockers, restriction of vigorous physical exercise, routine and noninvasive monitoring of aortic size, and elective surgical repair of the. Once the person inherits marfan syndrome, their connective tissue lacks strength due to its abnormal chemical makeup. Esc guidelines on the management of cardiovascular diseases during. Sex, pregnancy and aortic disease in marfan syndrome article pdf available in plos one 127. Pregnancy in mfs presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus. Management of pregnant woman with marfan syndrome and. We undertook a prospective evaluation of the outcomes of pregnancy, both maternal and fetal, and the longterm impact of pregnancy on marfan syndrome in a series of consecutive, unselected patients. Marfan syndrome is a systemic, heritable connective tissue disorder that affects many different organ systems and is best managed by using a multidisciplinary approach. Theres therefore a 1 in 2 50% chance that the child of a parent with marfan syndrome will inherit the syndrome. Conclusions women with marfans syndrome are at significant risk of aortic dissection in pregnancy even in the absence of preconceptional cardiovascular abnormality. Prenatal diagnosis is available where a familial mutation is known, but.
Traditionally, this risk has been ascribed to laborinduced stress, but habashi et al. Marfan syndrome mfs is a disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. Cardiac disease is the leading cause of maternal mortality in the developed world 1. Pregnancy creates extra stress on the heart and blood vessels. Delivery should be by the least stressful method possible. Genetic counseling should be performed prior to pregnancy as marfan syndrome is an inherited condition. Women with the marfan syndrome who have had aortic surgery with aortic andor mitral valve replacement prior to pregnancy or other indications for anticoagulant therapy require special consideration. Abnormalities of hemostasis have been described in patients having heritable disorders of connective tissue, namely the ehlersdanlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, and marfan s syndrome.
Recent guidelines have suggested an elective surgery before pregnancy for women with aortic root 47 mm. Mar 25, 2019 marfan syndrome mfs is a disorder of connective tissue affecting primarily the musculoskeletal system, the cardiovascular system and the eye. The biggest concern for patients with marfan syndrome is serious complications of the aorta, such as a tear or rupture that can cause death or serious injury to both you and your unborn baby. Marfan syndrome and pregnancy cardiac problems in pregnancy.
Health supervision for children with marfan syndrome. Fortyfive pregnancies in 21 marfan syndrome patients were prospectively observed in one institution between 1983 and 1992. The 2010 thoracic aortic disease guidelines advocate avoidance. Women with connective tissue disorders are at risk for cardiovascular complications during pregnancy, but there are no guidelines. Marfan syndrome mfs is a genetic disorder of the connective tissue. Pdf sex, pregnancy and aortic disease in marfan syndrome. Family planning and pregnancy the marfan foundation. Therefore, the treatment focuses on preventing the various complications related to this disorder. People with marfan tend to be tall and thin, with long arms, legs, fingers and toes. Marfans syndrome is a connective tissue disorder characterized by skeletal abnormalities, ocular lens dislocation, dural ectasia, and dilatation of the aortic root. Cardiovascular risk of pregnancy in marfan syndrome risk for the mother.
A prospective longitudinal evaluation of pregnancy in the marfan syndrome. Connective tissue supports many parts of your body. If the aorta is normal size, the risk for dissection is lower, but not absent. Most adults with marfan syndrome will eventually need replacement of the dilated aortic root 5% operative risk and leaking aortic valve. Results in total, there were 258 pregnancies in 151. Meijboom, md, phd amsterdam and utrecht, the netherlands pregnancy in patients with marfan syndrome remains a controversial subject. Through this study, we report successful treatment of standford type a aortic dissection in a pregnant marfansyndrome patient. Would i be able to deliver a baby without risking my own. Management of pregnant woman with marfan syndrome and mechanical aortic. Cardiovascular problems in pregnant women with marfan. Pregnancy and delivery therefore expose patients with marfans syndrome to an increased risk of lifethreatening dissection, especially when the aortic root diameter is larger than 40 mm. See genetics, clinical features, and diagnosis of marfan syndrome and related disorders and pregnancy and marfan syndrome. Pregnancy management in marfan syndrome springerlink. My marfan syndrome has always played a huge role in my life.
Apr 17, 2007 women with the marfan syndrome who have had aortic surgery with aortic andor mitral valve replacement prior to pregnancy or other indications for anticoagulant therapy require special consideration. Cardiovascular problems in pregnant women with marfan syndrome. Marfans syndrome and other aortopathies in pregnancy. Conclusions women with marfan s syndrome are at significant risk of aortic dissection in pregnancy even in the absence of preconceptional cardiovascular abnormality. The 2010 american guidelines recommend avoiding pregnancy or. Guidelines for the diagnosis and management of marfan syndrome 1. If you are thinking of getting pregnant and have marfan syndrome, talk to your doctor first. The immediate and longterm impact of pregnancy on aortic growth rate and mortality in women with marfan syndrome. Marfan syndrome mfs is an autosomal dominant hereditary disorder of the connective tissue in which involvement of the cardiovascular, skeletal, ocular, and other systems may be present. Pregnant women with marfan syndrome are considered high risk cases. The risk is greatest if your aorta is dilated more than 4 cm. Csanz guidelines for the diagnosis and management of marfan syndrome page 2 diagnostic dilemmas arise because of inter and intrafamilial variability. Whilst there are a number of case reports of aortic dissection occurring in pregnancy or the early postpartum period in women with marfans syndrome, researchers have identified a relatively low risk group of women who have tolerated pregnancy well, with a low risk of adverse cardiac events.
Genetic counseling should be performed prior to pregnancy because marfan syndrome is an inherited condition. Marfan syndrome is a genetic or inherited disorder. In women with mfs and a significantly dilated aorta over 4. Pregnancy and aortic root growth in the marfan syndrome. Pregnancy in women with marfan syndrome mfs presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus, and. Aortic root dilatation may be a predictor of risk but dissection may occur without significant dilatation. Application of cook balloon during aorta replacement in a. Pregnancy and marfan syndrome an ongoing discussion barbara j. A prospective longitudinal evaluation of pregnancy in the.
Marfan syndrome is an autosomal dominant connective tissue disorder associated with manifestations in multiple organ systems. Objectives information to guide counselling and management for pregnancy in women with marfan syndrome mfs is limited. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and. Outcome of pregnancy in women with marfans syndrome. Some people experience a few mild symptoms, whereas others experience more severe symptoms. The 2010 thoracic aortic disease guidelines advocate avoidance of pregnancy if the aortic root diameter exceeds 40 mm and recommend prophylactic aortic root replacement in those who desire pregnancy 11. If mitral valve prolapse is diagnosed, standard prophylaxis against bacterial endocarditis is recommended for all dental procedures. Foot pain and low back pain are common with marfan syndrome. Marfan syndrome is an autosomal dominant inherited connective tissue disorder with an estimated prevalence of 23 per 10 000. In marfan syndrome, the connective tissue in your body becomes weakened. The aorta is a key site affected by this syndrome, and female patients are at risk for aortic dissection associated with pregnancy and childbirth.
Pregnancy seems to increase the risk of aortic dissection in women with marfan syndrome on account of bloodvessel alterations, particularly in the third trimester. Pregnant women with marfan syndrome are also considered highrisk cases. The gene defect leads to abnormal production of a protein called fibrillin, resulting in parts of the body being able to. In general, the steps to a successful pregnancy are.
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