Marfan pregnancy

Marfan syndrome (MFS1) is an autosomal dominant condition causing aortopathy including fatal aortic dissection. This study aimed to perform clinical PGT-M in a family with a history of MFS1 for two generations. A family with two members affected by MFS1 approached the hospital for PGT-M. The couple decided to join the project following extensive counselling and informed consent was obtained. The mutation contributory to MFS1 was identified using whole-exome sequencing (WES). A novel PGT-M protocol using multiplex fluorescent PCR and mini-sequencing was developed and tested...

A 35-years-old pregnant woman with Marfan's syndrome visited the emergent department. She had sudden severe back pain. She was at the 20th week of gestation. An emergent chest computed tomo-graphy scan showed Stanford type B acute aortic dissection. After admission, strict blood pressure control was started. According to aortic valve insufficiency and fluid retention with pregnancy, acute heart and respiratory failure was getting worse. It seemed risky for both mother and the fetus to continue pregnancy. After sincere and detailed discussion between the patient and our multidisciplinary medical team, the patient decided to continue pregnancy...

BACKGROUND: Marfan Syndrome (MFS) is one of the most common connective tissue disorders. The aim of this study was to characterize an adult population with MFS and evaluate its long-term prognosis. METHODS: A retrospective analysis of adult patients with MFS followed up during the past 40 years in a tertiary congenital heart disease outpatient clinic was performed. Survival analysis was performed according to different parameters, and survival curves were compared using the log-rank test...

The phenotype and severity of cardiovascular diseases, such as a thoracic aortic aneurysm and dissection and atherosclerosis, differ between females and males. Notably, coronary artery dissection risk increases four-fold in women during late pregnancy and postpartum, suggesting that female sex hormones such as estrogen may play a role in vascular pathophysiology, yet are considered protective under most other circumstances. This paradox underscores the fact that the effect of estrogen on the vasculature is not fully understood at a molecular level, and most previous work in this area has been done using immortalized cell lines or animal models, which may not accurately model human responses...

OBJECTIVES: Aim of this study was to explore sex and gender differences regarding aortic events in Marfan patients. METHODS: We analysed all data from our connective tissue disorder database. Only patients with Marfan syndrome were included. For analysis, patients were divided by sex. Female patients were further divided into 2 subgroups; with vs without children. Aortic events were defined as Stanford type A or type B aortic dissection or any aortic intervention...

Aortopathies associated to Marfan syndrome (MFS) are important causes of maternal death during pregnancy. We present a 27-year-old and 24-week pregnant MFS woman who arrived to the emergency department with increasing abdominal pain; an obstetric ultrasound showed an Abdominal Aortic Aneurysm (AAA), a multislice computed tomography angiography (CTA) confirmed and demonstrated a 7.3 centimeter (cm) infrarenal AAA without evidence of dissection. A multidisciplinary committee determined that an open repair would lead to a significantly high maternal-fetal morbidity and mortality...

INTRODUCTION: Acute-type aortic dissection (AD) during pregnancy is considered a rare and potentially fatal complication for both mother and fetus. Although the definite treatment for an acute-type AD is considered to be open-heart surgery, the decision to perform such a surgery during pregnancy requires a multidisciplinary approach and carries significant risks. METHODS: In the present review of the literature, we have discussed various challenges in the management of acute-type AD during pregnancy, including therapeutic approaches, choosing the preferred imaging modalities, surgical techniques, and medication challenges...

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Aortic dissection is one of the most common causes of death in pregnancy. Most cases are caused by hereditary thoracic aortopathy (HTA), and women are often unaware they are at risk. Awareness, early recognition and involvement of senior clinicians from the expert cardio-obstetric team are essential to facilitate early diagnosis and carefully planned and coordinated antenatal and postnatal care. Frequent imaging antenatally and good blood pressure control are key. Delivery needs particular attention with optimal pain control and techniques to minimise maternal effort...

Around 25% of maternal deaths are related to heart disease and up-to 20% of these are the consequence of aortic dissection (Lameijer et al, Neth Heart J (2020) 28:27-36). Connective tissue disorders (e.g. Marfan's, Loeys-Dietz, Ehlers Danlos), Bicuspid aortic valve, Turner's Syndrome (TS) and pre-existing coarctations constitute the bulk of aortopathies encountered in pregnancy. Although a true XO karyotype in pregnancy had been rarely encountered historically due to the reduced fertility in these patients, women with a mosaic TS may have normal fertility and in recent years reproductive technologies with oocyte donation have increasingly been used in the sub-fertile TS population...

INTRODUCTION AND OBJECTIVES: Pregnancy in women with Marfan syndrome (MS) is associated with an increased risk of aortic events. The clinical evidence on pregnant patients with MS is limited and there is no specific consensus on their optimal management. We report our multicenter experience. METHODS: From January 2004 to January 2020, 632 patients with MS underwent periodic monitoring in Marfan units. During this period, we identified all pregnant women with MS and analyzed the incidence of aortic events during pregnancy and puerperium...

No abstract text is available yet for this article.

BACKGROUND: The risk of pregnancy-associated vascular complications in Marfan syndrome (MFS) is uncertain because of ascertainment bias, prepartum lack of knowledge of diagnosis, and insufficient peripartum imaging data. Furthermore, U.S. and European guidelines differ in pregnancy recommendations in MFS. OBJECTIVES: This study describes a single-center experience of 169 MFS women to address these gaps. METHODS: Clinical, imaging, and pregnancy history were compared in never vs ever-pregnant MFS women, and pregnancy-associated vascular complications were described...

Aortic dissection during pregnancy is rare but can be life-threatening to both the mother and the foetus. Marfan syndrome is a major risk factor for acute aortic dissection during pregnancy. Here, we present the case of a woman who had not been diagnosed with Marfan syndrome prior to pregnancy and who developed acute type B dissection at 32 weeks of gestation. The maternal hemodynamic status was stable, and foetal well-being was ensured. However, under conservative treatment, the dissection extended to the descending aorta, reaching the bilateral iliac artery 2 days later...

BACKGROUND: Pregnant women with Marfan syndrome (MS) have a high risk of aortic dissection around delivery and their optimal management requires a multi-disciplinary approach, including proper cardio-obstetric care and adequate pain management during labor, which may be difficult due to the high prevalence of dural ectasia (DE) in these patients. OBJECTIVES: To evaluate the multidisciplinary management of MS patients during labor. METHODS: Nineteen pregnant women (31 pregnancies) with MS were followed by a multi-disciplinary team (cardiologist, obstetrician, anesthesiologist) prior to delivery...

SLC35A2-CDG is a rare type of X-linked CDG with more than 60 reported cases. We retrospectively analyzed clinical phenotypes and SLC35A2 genotypes of four cases of SLC35A2-CDG from four unrelated families of Han ethnicity in China. All patients had infantile onset epilepsies that were completely or partly resistant to multiple anti-epileptic medications or ketogenic diet. Three patients had severe developmental delay. All patients were female patients carrying de novo deleterious mutations in SLC35A2 (NM_001042498...

Marfan syndrome (MFS) is caused by a FBN1 mutation. Many organ systems are affected in patients with MFS, including the skeletal, ocular, cardiovascular and pulmonary systems. Cardiovascular manifestations are the main cause of mortality in patients with MFS. The mode of inheritance of MFS is autosomal dominant inheritance and the offspring are at great risk for the disease. Thus, the genetic testing for monogenic disease during preimplantation (PGT-M) is routinely advised for patients with MFS. PGT-M is a clinical genetic method to obtain normal embryos which are not affected by the monogenetic disorder...

BACKGROUND: Since the outbreak of the coronavirus disease 2019 (COVID-19) pandemic, the exclusion of a patient from COVID-19 should be performed before surgery. However, patients with type A acute aortic dissection (AAD) during pregnancy can seriously endanger the health of either the mother or fetus that requires emergency surgical treatment without the test for COVID-19. CASE SUMMARY: A 38-year-old woman without Marfan syndrome was admitted to the hospital because of chest pain in the 34th week of gestation...

OBJECTIVE: To define the outcomes and impact of pregnancy in a cohort of women of childbearing age with acute aortic dissection (AAD). METHODS: We reviewed our database of AAD to identify all eligible female patients. Women under the age of 45 were included. Data on pregnancy timing with respect to occurrence of dissection, in addition to demographic data, dissection extent, dissection treatment, dissection related outcomes, overall maternal and fetal mortality, and genetic testing results were analyzed...

Background  Marfan's syndrome (MFS) is a connective tissue disorder, caused by a mutation in the FBN-1 gene and affecting multiple organ systems including the vascular system. During pregnancy, women with MFS have an increased risk of aortic dissection due to changes in the cardiovascular system. Case Description  We present a 39-year-old woman that suffered from an acute aortic dissection in week 33 of her third pregnancy who urgently required lifesaving surgery. Three-dimensional reconstruction of computed tomography scan was performed with unborn child in utero...