Abstract 349: Outcomes Among Women With Bicuspid Aortic Valve and/or Bicuspid Aortopathy During Pregnancy

2020 ◽  
Vol 13 (Suppl_1) ◽  
Author(s):  
Sarina Meikle ◽  
Jenny Wu ◽  
David Bach ◽  
Marion Hofmann Bowman ◽  
Mark Norris ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Bicuspid Aortic Valve ◽  
Gestational Age ◽  
Beta Blockers ◽  
Post Partum ◽  
Inclusion Criteria ◽  
Vaginal Deliveries ◽  
Increased Risk ◽  
Aortic Dissections

Background: Bicuspid aortic valve (BAV) is associated with an increased risk of aortic dissection, but little is known about pregnancy-associated outcomes. Methods: ICD codes and a text recognition program (EMERSE) were used to identify women with BAV and pregnancy (2000-2018) at a single center. Charts were manually reviewed to confirm the diagnoses, echocardiographic data, co-morbidities, and outcomes. Inclusion criteria were congenital BAV pathology and pregnancy. Primary endpoints included expansion of aortic aneurysm and aortic dissection during pregnancy and up to 6 weeks post-partum. Results: We identified 622 women with diagnoses of BAV and pregnancy. After detailed review, 72 women (87 pregnancies) met inclusion criteria. Mean gestational age at delivery was 36.9 weeks. Ten (11.5%) patients had hypertensive disorders of pregnancy, 7 (8.0%) had gestational diabetes, and 25 (28.7%) were treated with beta-blockers. Two (2.3%) pregnancies had intra-uterine growth restriction. Vaginal deliveries occurred in 56.5% and cesarean section in 36.3%. No Type A or B aortic dissections occurred. During pregnancy, there were no significant changes in the aortic dimensions. Prior to pregnancy, 6 women had aortic measurements > 40mm (mean pre-pregnancy 40.8 ± 3.2 mm; mean post-pregnancy 42.5 ± 3.9 mm). In this higher-risk group, mean gestational age was 38.7 weeks, 4 (66.7%) had vaginal delivery, 1 (16.7%) had preeclampsia, 4 (66.7%) were treated with beta-blockers, and all breastfed. There were no delivery complications, no aortic dissections, and no maternal or fetal deaths. Conclusions: Women with BAV appear to be at relatively low risk for acute aortic dissection during pregnancy.

Aortic diseases

ESC CardioMed ◽  
2018 ◽  
pp. 2861-2863
Author(s):  
Bernard Iung
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Marfan Syndrome ◽  
Bicuspid Aortic Valve ◽  
Young Women ◽  
Beta Blockers ◽  
Aortic Aneurysms ◽  
Maximum Diameter ◽  
Aortic Diseases

Aortic diseases encountered in young women are mainly associated with syndromic diseases, which are often heritable, or bicuspid aortic valve. The most frequent syndromic disease is Marfan syndrome. In Marfan syndrome, the risk of aortic dissection is low during pregnancy when the maximum diameter of the ascending aorta is less than 45 mm. Dissection may affect the thoracic ascending or descending aorta. The risk of aortic dissection is low in bicuspid aortic valve when the aortic diameter is less than 50 mm. Beta blockers are recommended throughout pregnancy in Marfan syndrome and are often used in other causes of aortic aneurysms. Close echocardiographic follow-up is needed during pregnancy and after delivery.

Aortic diseases

ESC CardioMed ◽  
2018 ◽  
pp. 2861-2863
Author(s):  
Bernard Iung
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Marfan Syndrome ◽  
Bicuspid Aortic Valve ◽  
Young Women ◽  
Beta Blockers ◽  
Aortic Aneurysms ◽  
Maximum Diameter ◽  
Aortic Diseases

Aortic diseases encountered in young women are mainly associated with syndromic diseases, which are often heritable, or bicuspid aortic valve. The most frequent syndromic disease is Marfan syndrome. In Marfan syndrome, the risk of aortic dissection is low during pregnancy when the maximum diameter of the ascending aorta is less than 45 mm. Dissection may affect the thoracic ascending or descending aorta. The risk of aortic dissection is low in bicuspid aortic valve when the aortic diameter is less than 50 mm. Beta blockers are recommended throughout pregnancy in Marfan syndrome and are often used in other causes of aortic aneurysms. Close echocardiographic follow-up is needed during pregnancy and after delivery.

scholarly journals Aortic Aneurysm and Dissection in Pregnancy: Report of a Rare Case in a Marfan with Bicuspid Aortic Valve

2020 ◽  
Vol 5 (04) ◽  
pp. 331-334
Author(s):  
Paolo Masiello ◽  
Rocco Leone ◽  
Rossella Maria Benvenga ◽  
Severino Iesu
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Aortic Arch ◽  
Bicuspid Aortic Valve ◽  
Rare Case ◽  
Unplanned Pregnancy ◽  
Type A ◽  
Cardiac Biomarkers ◽  
High Morbidity ◽  
Type A Aortic Dissection

Abstract Background Type A aortic dissection is an emergency with high morbidity and mortality when surgery is not performed. Few cases are described in the literature about aortic dissection during pregnancy. A correlation between pregnancy and aortic dissection is mainly reported in patients with family history and connective tissue disorders, such as Marfan’s syndrome (MS), Loeys–Dietz’s syndrome, and Ehlers–Danlos’s syndromes, and patients with bicuspid aortic valve (BAV); exceptional cases are also described in patients without risk factors. Case presentation A 22-year-old young woman with MS, ascending aorta dilation, and BAV became pregnant. During labor, she experienced a short-term chest pain with spontaneous resolution. The electrocardiogram (ECG) and cardiac biomarkers were negative for acute coronary artery disease, but no transthoracic echocardiogram (TTE) was performed. A caesarean section was performed without complications. After 1 month, a routine TTE showed a chronic ascending aortic dissection involving the aortic arch and supra-aortic vessels. Due to a normally functioning aortic valve, the David operation was performed (sparing aortic valve) with the replacement of the aortic arch and supra-aortic vessels. Conclusions Aortic dissection is a rare cardiovascular complication that can occur during pregnancy and is associated with very high-risk mortality. We have reported a rare case of undiagnosed type A aortic dissection involving the aortic arch during unplanned pregnancy in patients with BAV and MS, subsequently treated with the David surgery and replacement of ascending aortic arch and supra-aortic vessels. A closer clinical and instrumental follow-up is necessary in this particular group of patients at risk. Awareness of all physicians involved is mandatory.

Abstract 15169: De Novo Variants of USP10 in Early Onset Bicuspid Aortic Valve Disease

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Siddharth K Prakash ◽  
Angela T Yetman ◽  
Hector I Michelena ◽  
Malenka M Bissell ◽  
Yuli Y Kim ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Early Onset ◽  
Rare Variants ◽  
De Novo ◽  
Late Onset ◽  
Copy Number Variants ◽  
Aortic Aneurysms ◽  
Thoracic Aortic Aneurysms ◽  
Aortic Dissections

Introduction: Bicuspid Aortic Valve (BAV), the most common congenital heart defect, is a major cause of aortic regurgitation or stenosis requiring valve replacement and thoracic aortic aneurysms predisposing to acute aortic dissections (TAD). The spectrum of BAV ranges from severe early onset valve and aortic complications to sporadic late onset disease. Hypothesis: Early onset BAV (EBAV) cases with valve or aortic complications that require intervention prior to age 30 are enriched for rare genetic variants that cause BAV and TAD. Methods: We performed whole exome sequencing of 147 EBAV cases in 141 families who were enrolled in the UTHealth Bicuspid Aortic Valve Research Registry. Candidate variants in the EBAV cohort (26% female, mean age 18, 44% with TAD) were compared to unselected controls from the Genome Aggregation Database (gnoMAD) and the Database of Genotypes and Phenotypes (dbGAP). We considered variants with minor allele frequencies (MAF) < 1%, Combined Annotation Dependent Depletion (CADD) scores > 25, and damaging (Polyphen-2) or deleterious (SIFT) functional prediction scores. Genomic copy number variants (CNVs) were detected using CoNIFER and prioritized when deletions involved genes with probability of loss intolerance (pLI) > 0.9. Variants were validated using quantitative PCR or Sanger sequencing. Results: We identified 6 rare variants of USP10 in 6 EBAV families (4% of cohort): 4 CNVs (2 duplications and 2 deletions) that are rare in dbGAP controls (4 in 15,414) and 2 deleterious rare missense variants (MAF<5x10 -5 in gnoMAD). Two of the 4 CNVs were de novo events in trios. In contrast, rare deleterious variants of the known causal BAV genes NOTCH1 (1), ROBO4 (1), GATA4 (1), GATA5 (1), and SMAD6 (4) were found in 7 total families. USP10 encodes a ubiquitin peptidase that is required for endothelial Notch signaling during vascular development. Conclusions: We identified rare and de novo variants of USP10 that implicate USP10 as a new candidate gene for BAV.

scholarly journals The bicuspid aortic valve and related disorders

2010 ◽  
Vol 128 (5) ◽  
pp. 296-301 ◽  
Author(s):  
Shi-Min Yuan ◽  
Hua Jing
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Thrombus Formation ◽  
Beta Blockers ◽  
Ductus Arteriosus ◽  
Treatment Strategies ◽  
Hereditary Diseases ◽  
Laboratory Findings ◽  
Male Predominance ◽  
Congenital Cardiac Malformation

Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, affecting 1-2% of the population, with strong male predominance. Individuals may have a normally functioning BAV, and may be unaware of its presence and the potential risk of complications. However, they may easily develop aortic valve disorders: either stenotic or regurgitant, or both. Today, BAV is recognized as a syndrome incorporating aortic valve disorders and aortic wall abnormalities, including aortic dilation, dissection or rupture. Congenital or hereditary diseases such as ventricular septal defect, patent ductus arteriosus, coarctation of the aorta, Turner's syndrome, Marfan's syndrome etc., may frequently be associated with BAV. Infective endocarditis and occasionally thrombus formation may develop during the lives of BAV patients. Elevated cholesterol or C-reactive protein may be seen in laboratory findings of these patients. Beta-blockers and statins are the possibilities for medical treatment, and aortic valve repair/replacement and ascending aorta replacement are indicated for patients with a severely diseased aortic valve and aorta. Rigorous follow-up throughout life is mandatory after BAV has been diagnosed. The aim of the present article was to describe the implications of BAV and its associated disorders, and to discuss diagnostic and treatment strategies.

scholarly journals Fate of mild-to-moderate bicuspid aortic valve disease untreated during ascending aorta replacement

2020 ◽  
Author(s):  
Alessandro Verzini ◽  
Marta Bargagna ◽  
Guido Ascione ◽  
Alessandra Sala ◽  
Davide Carino ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Ascending Aorta ◽  
Term Survival ◽  
Kaplan Meier ◽  
Aortic Root Surgery ◽  
Increased Risk ◽  
Aorta Replacement ◽  
Ascending Aorta Replacement

Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect and it is responsible for an increased risk of developing aortic valve and ascending aorta complications. In case of mild to moderate BAV disease in patients undergoing supracoronary ascending aorta replacement, it is unclear whether a concomitant aortic valve replacement should be performed. Methods: From June 2002 to January 2020, 75 patients with mild-to-moderate BAV regurgitation (± mild-to-moderate stenosis) who underwent isolated supracoronary ascending aorta replacement were retrospectively analyze. Clinical and echocardiographic follow-up was 100% complete (mean: 7.4±3.9 years, max 16.4). Kaplan Meier estimates were employed to analyze long-term survival. Cumulative incidence function for time to re-operation, recurrence of aortic regurgitation (AR)≥3+ and aortic stenosis (AS) greater than moderate, with death as competing risk, were computed. Results: There was no hospital mortality and no cardiac death occurred. Overall survival at 12 years was 97.4±2.5%, 95% CI [83.16-99.63]. At follow-up there were no cases of aortic root surgery whereas 3 patients underwent AV replacement. At 12 years the CIF of reoperation was 2.6±2.5%, 95% CI [0.20-11.53]. At follow up, AR 3+/4+ was present in 1 pt and AS greater than moderate in 3. At 12 years the CIF of AR>2+/4+ was 5.1±4.98% and of AS>moderate 6.9±3.8%. Conclusions: In our study mild to moderate regurgitation of a BAV did not significantly worse at least up to 10 years after isolated supracoronary ascending aorta replacement.

scholarly journals The Development of the Ascending Aortic Wall in Tricuspid and Bicuspid Aortic Valve: A Process from Maturation to Degeneration

2020 ◽  
Vol 9 (4) ◽  
pp. 908
Author(s):  
Nimrat Grewal ◽  
Adriana C. Gittenberger-de Groot ◽  
Jan von der Thusen ◽  
Lambertus J. Wisse ◽  
Margot M. Bartelings ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Young Child ◽  
Bicuspid Aortic Valve ◽  
Aortic Wall ◽  
Age Groups ◽  
Intimal Thickening ◽  
Aortic Dilation ◽  
Future Studies ◽  
Increased Risk ◽  
Two Phases

Background: Patients with a bicuspid aortic valve (BAV) have an increased risk for aortic dilation and dissection. In this study, we provide a histological stratification of the developing aorta in the tricuspid aortic valve (TAV) and the BAV populations as a reference for future studies on aortopathy and related syndromes. Methods: Non-dilated TAV and BAV ascending aortic wall samples were collected, including 60 TAV (embryonic–70 years) and 32 BAV specimens (fetal–72 years, categorized in eight age groups. Results: In TAV, intimal development starts in the neonatal phase. After birth, the thickness of the medial layer increases significantly by increase of elastic lamellae up to and including the “young child” phase stabilizing afterwards. The BAV shows already prenatal intimal thickening becoming significantly thinner after birth subsequently stabilizing. In BAV, increase in elastic lamellae is seen between the young child and the adolescent phases, stabilizing afterwards. Conclusions: Vascular development in TAV is described in three phases: maturation, stabilization, and degeneration. For BAV, the development can be described in two phases: maturation (already prenatally) and degeneration. After birth, the development of the aorta is characterized by degeneration, leading to weakening of the ascending aortic wall and increasing the risk of aortopathy.

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