Search

Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c.980G>A; p. Gly327Asp). She had had three uneventful vaginal deliveries. At the time of diagnosis, her 33-year-old niece was 25 weeks pregnant. She had had one uneventful vaginal delivery. Targeted DNA-analysis revealed that she was carrier of the COL3A1 mutation. Ultrasound detected an aneurysm in the abdominal aorta with likely a dissection. An uneventful elective cesarean section was performed at a gestational age of 37 weeks. The 40-year-old sister of our proband had had one uneventful vaginal delivery and an active pregnancy wish. Cascade DNA-screening showed her to carry the COL3A1 mutation. Computed Tomography Angiography (CTA) of her aorta revealed a type B dissection with the most proximal entry tear just below the superior mesenteric artery. Pregnancy was therefore discouraged. This familial case illustrates the complexity and challenges of reproductive decision-making in a potentially lethal condition as vEDS, and highlights the importance of a multidisciplinary approach. Moreover, it suggests that previous pregnancy-related risks of vEDS may be overestimated. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Little is known about the course of echocardiographic parameters used for the evaluation of valvular heart disease (VHD) during pregnancy, hampering interpretation of possible changes (physiological vs. pathophysiological). Therefore we studied the course of these parameters and ventricular function in pregnant women with aortic and pulmonary VHD. The cohort comprised 66 pregnant women enrolled in the prospective ZAHARA studies or evaluated by an identical protocol who had pulmonary VHD or aortic VHD (stenosis/prosthetic valve). The control group comprised 46 healthy pregnant women. Echocardiography was performed preconception, during pregnancy and 1 year postpartum. Peak gradient, mean gradient, aortic valve area (AVA)/effective orifice area (EOA), left ventricular ejection fraction (LVEF) and right ventricular function (RVF; TAPSE) were assessed. Peak and mean gradients increased during pregnancy compared to preconception in women with aortic VHD and controls (p < 0.0125), but not in women with pulmonary VHD. AVA/EOA remained unchanged. Preconception and postpartum gradients were comparable in all groups. Mean LVEF was normal in pregnant women with VHD and controls. Mean TAPSE was lower (p < 0.001) in women with pulmonary VHD compared to women with aortic VHD and controls (<20 mm vs. ≥23 mm; p < 0.001). In women with pulmonary VHD a decrease of TAPSE was observed during pregnancy (p = 0.005). Physiological changes during pregnancy lead to increased Doppler gradients in women with aortic VHD. This increase was not found in women with pulmonary VHD, probably caused by impaired RVF. Therefore, evaluation of RVF during pregnancy might be important to prevent underestimation of the degree of stenosis. • Serial changes in Doppler gradients and valve area in aortic and pulmonary valve disease were reported throughout pregnancy • Aortic valve gradients increased during pregnancy and returned to baseline postpartum, valve area remained unchanged • Valve gradients did not change in pregnant women with pulmonary valve disease, likely due to worse right ventricular function • Evaluation of the right ventricle might be important to prevent possible underestimation of the degree of pulmonary stenosis [ABSTRACT FROM AUTHOR]

Objective Women with repaired coarctation of the aorta (rCoA) are at risk of hypertensive disorders and other complications during pregnancy. Hypertensive disorders in pregnant women are associated with inadequate uteroplacental flow, which is related to adverse offspring outcome. The aim of this study was to investigate the relationship of maternal cardiac function, placental function and pregnancy complications in women with rCoA. Methods We included 49 pregnant women with rCoA and 69 controls from the prospective ZAHARA-studies (Zwangerschap bij Aangeboren HARtAfwijkingen, pregnancy in congenital heart disease). Clinical evaluation, echocardiography and uteroplacental Doppler flow (UDF) measurements were performed at 20 and 32 weeks gestation. Univariable regression analysis was performed. Results Comparison of rCoA and healthy women. In women with rCoA, tricuspid annular plane systolic excursion (TAPSE) decreased during pregnancy (25.7 mm to 22.8 mm, P = 0.006). UDF indices and pregnancy complication rates were similar in both groups. Offspring of rCoA women had lower birth weight (3233 g versus 3578 g, P = 0.001), which was associated with β-blocker use during pregnancy (β = − 418.0, P = 0.01). Association of cardiac function and UDF. Right ventricular (RV) function before pregnancy (TAPSE) and at 20 weeks gestation (TAPSE and RV fractional area change) were associated with impaired UDF indices (umbilical artery pulsatility index at 20 weeks β = − 0.02, P = 0.01, resistance index at 20 and 32 weeks β = − 0.01, P = 0.02 and β = − 0.02, P = 0.01 and uterine artery pulsatility and resistance index at 20 weeks gestation β = − 0.02, P = 0.05 and β = − 0.01, P = 0.02). Conclusions Women with rCoA tolerate pregnancy well. However, RV function is altered and is associated with impaired placentation. [ABSTRACT FROM AUTHOR]