Maternal and fetal outcomes in pregnancies complicated by Marfan syndrome

ObjectivesInformation to guide counselling and management for pregnancy in women with Marfan syndrome (MFS) is limited. We therefore conducted a UK multicentre study.MethodsRetrospective observational study of women with MFS delivering between January 1998 and March 2018 in 12 UK centres reporting data on maternal and neonatal outcomes.ResultsIn total, there were 258 pregnancies in 151 women with MFS (19 women had prior aortic root replacements), including 226 pregnancies ≥24 weeks (two sets of twins), 20 miscarriages and 12 pregnancy terminations. Excluding miscarriages and terminations, there were 221 live births in 139 women. Only 50% of women received preconception counselling. There were no deaths, but five women experienced aortic dissection (1.9%; one type A and four type B—one had a type B dissection at 12 weeks and subsequent termination of pregnancy). Five women required cardiac surgery postpartum. No predictors for aortic dissection could be identified. The babies of the 131 (65.8%) women taking beta-blockers were on average 316 g lighter (p<0.001). Caesarean section rates were high (50%), particularly in women with dilated aortic roots. In 55 women, echocardiographic aortic imaging was available prepregnancy and postpregnancy; there was a small but significant average increase in AoR size of 0.84 mm (Median follow-up 2.3 months)ConclusionThere were no maternal deaths, and the aortic dissection rate was 1.9% (mainly type B). There with no identifiable factors associated with aortic dissection in our cohort. Preconception counselling rates were low and need improvement. Aortic size measurements increased marginally following pregnancy.

Download Full-text

Aortic diseases

ESC CardioMed ◽

10.1093/med/9780198784906.003.0689_update_001 ◽

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.

Download Full-text

Aortic diseases

ESC CardioMed ◽

10.1093/med/9780198784906.003.0689 ◽

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

Download Full-text

444Plasma levels of microfibrillar associated protein type 4 (MFAP4) are predictive for aortic dissection in patients with Marfan Syndrome

European Heart Journal ◽

10.1093/eurheartj/ehz747.0110 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

M M Van Andel ◽

S Wanga ◽

X Yin ◽

P Skroblin ◽

D R Koolbergen ◽

...

Keyword(s):

Aortic Dissection ◽

Marfan Syndrome ◽

Elastic Fiber ◽

Aortic Distensibility ◽

High Plasma ◽

Type B ◽

Tgf Beta ◽

Fibrillin 1 ◽

Aortic Dissections

Abstract Aim Marfan syndrome is a disorder with mutations in the fibrillin-1 gene, leading to elastic fiber degradation and increased TGF-beta signaling. The life-threatening feature of Marfan is aneurysm formation with a risk of fatal aortic dissections. In a proteomics screen, we identified MFAP4, a protein involved in fibrillin-1 and elastic fiber formation, to be increased in the Marfan aorta. We aim to study the role of MFAP4 in Marfan aortic disease. Methods and results MFAP4 co-localizes in the aorta with elastin and collagen fibers. In vitro experiments show that MFAP4 expression is upregulated by TGF-beta, which could explain the increased MFAP4 protein levels in the Marfan aorta. In a substudy of 96 Marfan patients from the COMPARE trial, MFAP4 levels correlate with aortic root diameter (r=0.30, p=0.01). Patients previously enrolled in the COMPARE trial were retrospectively analyzed. Cardiovascular events, including aortic dissection, were assessed. Plasma samples were prospectively collected at time of inclusion in the study and analyzed retrospectively on MFAP4. In the 7 years of follow up, 5 Type B dissections occurred, all of them in patients in the upper tertile of plasma MFAP4. High plasma MFAP4 associates with poor dissection-free survival (Figure 1). Moreover, the aortic distensibility as measure for aortic stiffness and damage, was calculated throughout the aorta from available MRI images of these patients. Interestingly, in the descending thoracic aorta where type B dissections occur, the aortic distensibility is significantly lower (indicating decreased aortic elasticity) in Marfan patients with high plasma MFAP4, thus associating with aortic damage. Figure 1 Conclusion MFAP4, a protein involved in extracellular matrix assembly, is elevated in the Marfan aorta. High plasma MFAP4 seems to reflect aortic damage and predicted type B aortic dissections in up to 7 years follow up.

Download Full-text

Outcomes of endovascular management of the aorta in connective tissue disorders

European Heart Journal ◽

10.1093/eurheartj/ehab724.2002 ◽

2021 ◽

Vol 42 (Supplement_1) ◽

Author(s):

X Yuan ◽

I Akin ◽

T Semple ◽

U Rosendahl ◽

C Nienaber

Keyword(s):

Connective Tissue ◽

Aortic Dissection ◽

Marfan Syndrome ◽

Aortic Root ◽

Endovascular Management ◽

Type B ◽

Connective Tissue Disorders ◽

Type B Aortic Dissection

Abstract Background Endovascular management of type B aortic dissection has been well established and accepted in the community. However, due to the lack of information on long-term outcome, endovascular management remains controversial in the setting of connective tissue disorders such as Marfan syndrome. Although surgical repair is recommended in type B aortic dissection with connective tissue disorders, recent studies demonstrated both feasibility and safety of endovascular interventions in those patients at least short term. Purpose Single centre experience and documentation of long-term outcomes after endovascular management of aortic conditions in patients with connective tissue disorders. Methods All patients with genetic confirmation of connective tissue disorders who underwent endovascular repair of the thoracic aorta were identified and evaluated retrospectively. Perioperative, procedure-specific and follow-up data were extracted from medical records of a structured surveillance program. Results Between 2002 and 2020, 18 patients were identified having undergone TEVAR procedures and protocol follow-up. The median age was 35.5 (IQL 30.0 – 42.7), and 12 (66.7%) were males; median ACEF II score was 0.6 (IQL 0.5 – 0.925). This cohort comprised 15 (83.3%) patients with genetically confirmed Marfan syndrome, two (11.1%) with Loeys-Dietz, and one (5.6%) with Ehlers-Danlos syndrome. Of these, 13 (72.2%) patients had undergone aortic root or aortic root/ascending aorta replacement independently in the past. The indication for a TEVAR procedure was seen in one case for degenerative aneurysmal disease (5.6%), in one case for elephant trunk stenosis (5.6%), in five cases for residual aortic dissection (27.8%), and in 11 cases for new type B dissection (61.1%). The most frequently used stent-graft was Valiant™ (Medtronic) in 10 cases (55.6%), followed by TAG® (Gore®) in four cases (22.2%), Zenith® (COOK®) in two cases (11.1%), and for Relay® (Bolton) and Sinus-XL® (Optimed) in one case each (5.6%). The average total covered length was 192.2±40.2 mm. Median follow-up duration was 77.5 months (IQR 35.8 - 131); three (16.7%) cases revealed failure of TEVAR and led to conversion to open surgery. Two patients (11.1%) had died including one patient in the perioperative phase. At the last follow-up, complete thrombosis of the false lumen was observed in 14 cases (82.3%), and 15 cases (88.2%) showed no aortic expansion or progression during the follow-up period resulting in an overall endovascular success rate of 72.2%. Conclusion Thoracic endovascular aortic repair can be performed for selected patients with connective tissue disorders at relatively low long-term mortality and morbidity. With improved devices and technical skills, mid- and long-term surveillance revealed promising outcomes and a low rate of aneurysmal degeneration. Structured surveillance remains crucial to detect emerging late complications and to accumulate more long-term data. FUNDunding Acknowledgement Type of funding sources: None.

Download Full-text

Rupture of a Type B Aortic Dissection in a Postpartum Patient with Marfan Syndrome

American Journal of Perinatology Reports ◽

10.1055/s-0039-1692712 ◽

2019 ◽

Vol 09 (03) ◽

pp. e256-e261

Author(s):

Elizabeth Patberg ◽

Jennifer Duffy ◽

Afshan B. Hameed

Keyword(s):

Aortic Dissection ◽

Marfan Syndrome ◽

Postpartum Period ◽

Aortic Rupture ◽

Multidisciplinary Care ◽

Type B ◽

Increased Risk ◽

Type B Dissection ◽

Close Observation ◽

Short Time

Background Pregnant women with Marfan syndrome (MFS) are known to be at increased risk of aortic dissection; however, cases of aortic rupture are extremely rare. There is lack of consensus on the exact site and size of aortic diameter measurement that increases this risk, and whether this applies to both Type A and Type B dissections. Case A 23-year-old G2P1001 with known Marfan syndrome who underwent an uncomplicated antepartum and intrapartum course. She experienced persistent backache 10 days postpartum that led to the diagnosis of Stanford Type B dissection. The patient was hospitalized for close observation. Dissection progressed to aortic rupture within 24 hours that required emergent thoracic endovascular aortic repair. She had an uncomplicated postoperative course. Conclusion Our report demonstrates rupture of a known aortic dissection within a very short time in the postpartum period. The case highlights the importance of patient education and close surveillance especially in the postpartum period. It also brings home the value of imaging of the whole aorta rather than focusing on the ascending alone. Multidisciplinary care and timely diagnosis and intervention likely led to the favorable outcome in our case.

Download Full-text

Progressive Pulmonary Artery Dilatation is Associated with Type B Aortic Dissection in Patients with Marfan Syndrome

Journal of Clinical Medicine ◽

10.3390/jcm8111848 ◽

2019 ◽

Vol 8 (11) ◽

pp. 1848

Author(s):

Christel Brouwer ◽

Haldun Bulut ◽

Willemijn van Gemert ◽

Alexander HJ Staal ◽

Kim Cortenbach ◽

...

Keyword(s):

Pulmonary Artery ◽

Marfan Syndrome ◽

Multivariable Analysis ◽

Type B ◽

Descending Aorta ◽

Routine Magnetic Resonance Imaging ◽

Cardiovascular Morbidity And Mortality ◽

Type B Dissection ◽

Aorta Diameter

Objective: Marfan syndrome (MFS) is a connective tissue disorder associated with severe cardiovascular morbidity and mortality. It is unknown if aorta complications in MFS are associated with progressive pulmonary artery (PA) dilatation. Methods: We measured the PA diameter on routine magnetic resonance imaging in a population of MFS patients seen in our specialised centre with follow up of diameters as well as the outcome. Results: PA dilatation was defined as an increase in diameter of 2 mm or more, and 71 patients (44%) of our total cohort (n = 162) met this criterion; mean follow up between two scans was 8.6 years (standard deviation (SD) ± 2.7 years). Furthermore, 28 patients suffered from dissections, of which 14 had a type A dissection, 10 had a type B dissection, and 4 patients suffered from both. Of those who suffered from dissection, 64% (18 out of 28) had a dilatation of the PA, versus 39% (53 out of 134) in the patient group without a dissection (p < 0.05). There was a significant association between type B dissection and descending aorta diameter (OR 1.14; 95% CI 1.05–1.24 p < 0.01) and PA dilatation (OR 1.69; 95% CI 1.03–2.77 p = 0.04). In the multivariable analysis the final model for type B dissection, only systolic blood pressure (OR 1.06; 95% CI 1.01–1.11 p = 0.02) and PA dilatation were statistically significant (OR 1.85; 95% CI 1.10–3.12 p = 0.02) while descending aorta diameter was not. Conclusions: We report an association between progressive PA dilatation and type B dissection. Our findings encourage a renewed interest in PA dimensions in MFS.

Download Full-text

Endovascular thrombectomy in the setting of aortic dissection

Journal of NeuroInterventional Surgery ◽

10.1136/neurintsurg-2016-012397 ◽

2016 ◽

Vol 9 (1) ◽

pp. 17-20 ◽

Cited By ~ 12

Author(s):

Michael E Reznik ◽

Aixa Damaris Espinosa-Morales ◽

Mouhammad A Jumaa ◽

Syed Zaidi ◽

Andrew F Ducruet ◽

...

Keyword(s):

Aortic Dissection ◽

Marfan Syndrome ◽

Relevant Literature ◽

Acute Type ◽

Type B ◽

Endovascular Thrombectomy ◽

Intravenous Tissue Plasminogen Activator ◽

Type B Dissection ◽

History Of ◽

Aortic Dissections

BackgroundRecent studies have validated the use of endovascular thrombectomy in large vessel ischemic stroke provided patients are selected appropriately. However, to our knowledge, there have been no previously reported cases of endovascular thrombectomy in patients with aortic dissection. We report three such cases, two with chronic aortic dissections (including one with a history of Marfan syndrome) and another with an acute type B dissection.MethodsCase studies and review of relevant literature.ResultsThree patients with a history of aortic dissection presented with acute onset right middle cerebral artery syndromes, two of whom had chronic aortic dissections that were status-post graft repair, while a third had an acute type B aortic dissection that had been managed with a femoral-to-femoral bypass. None of the three were candidates for intravenous tissue plasminogen activator. All three were found to have proximal right M1 occlusions on non-invasive imaging and were taken for endovascular thrombectomy via transfemoral, transradial, and transbrachial approaches, respectively. All three had successful recanalization (with Thrombolysis In Cerebral Infarction (TICI) 2b, TICI 3, and TICI 2b flow, respectively) along with clinical improvement, and none had procedure-related complications.ConclusionsThese three cases suggest that endovascular thrombectomy is feasible and can be done safely and efficaciously in patients with aortic dissections and those with Marfan syndrome, although the risks and benefits should be considered as part of any decision-making process. Given that endovascular therapy for acute stroke is now in many situations part of standard care, further studies will be necessary to delineate more precise inclusion and exclusion criteria.

Download Full-text

STABILISE for Complicated Type B Dissection after 15 Months’ Follow Up: A Word of Caution

European Journal of Vascular and Endovascular Surgery ◽

10.1016/j.ejvs.2021.02.025 ◽

2021 ◽

Author(s):

Raphael Soler ◽

Michel A. Bartoli ◽

Philippe Amabile ◽

Gabrielle Sarlon-Bartoli ◽

Pierre-Édouard Magnan

Keyword(s):

Type B ◽

Type B Dissection

Download Full-text

The effect of beta-blockers on hemodynamic parameters in patient-specific blood flow simulations of type-B aortic dissection: a virtual study

Scientific Reports ◽

10.1038/s41598-021-95315-w ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Mohammad Amin Abazari ◽

Deniz Rafieianzab ◽

M. Soltani ◽

Mona Alimohammadi

Keyword(s):

Aortic Dissection ◽

Clinical Decision Making ◽

Beta Blockers ◽

False Lumen ◽

Specific Treatment ◽

Left Ventricular ◽

Patient Specific ◽

Type B ◽

Windkessel Model ◽

Computed Tomography Images

AbstractAortic dissection (AD) is one of the fatal and complex conditions. Since there is a lack of a specific treatment guideline for type-B AD, a better understanding of patient-specific hemodynamics and therapy outcomes can potentially control the progression of the disease and aid in the clinical decision-making process. In this work, a patient-specific geometry of type-B AD is reconstructed from computed tomography images, and a numerical simulation using personalised computational fluid dynamics (CFD) with three-element Windkessel model boundary condition at each outlet is implemented. According to the physiological response of beta-blockers to the reduction of left ventricular contractions, three case studies with different heart rates are created. Several hemodynamic features, including time-averaged wall shear stress (TAWSS), highly oscillatory, low magnitude shear (HOLMES), and flow pattern are investigated and compared between each case. Results show that decreasing TAWSS, which is caused by the reduction of the velocity gradient, prevents vessel wall at entry tear from rupture. Additionally, with the increase in HOLMES value at distal false lumen, calcification and plaque formation in the moderate and regular-heart rate cases are successfully controlled. This work demonstrates how CFD methods with non-invasive hemodynamic metrics can be developed to predict the hemodynamic changes before medication or other invasive operations. These consequences can be a powerful framework for clinicians and surgical communities to improve their diagnostic and pre-procedural planning.

Download Full-text

Acute Aortic Dissection in Pregnancy in a Woman with Undiagnosed Marfan Syndrome

Case Reports in Obstetrics and Gynecology ◽

10.1155/2012/490169 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3 ◽

Cited By ~ 2

Author(s):

Mandana Master ◽

Gavin Day

Keyword(s):

Aortic Dissection ◽

Marfan Syndrome ◽

Acute Aortic Dissection ◽

Congenital Abnormalities ◽

Surgical Repair ◽

Phenotypic Expression ◽

Sudden Onset ◽

Lower Segment Caesarean Section ◽

Type B Dissection ◽

Type A Dissection

We report a case of acute aortic dissection in a lady of 28 weeks of gestation with undiagnosed Marfan syndrome. The patient had been seen in our antenatal clinics. Her history documented in her pregnancy record was negative for genetic/congenital abnormalities. There was no family history documented. Subsequently, at 28 weeks of gestation, the patient presented with sudden onset chest, jaw, and back pain. Further history revealed that her father had died at the age of 27 of an aortic dissection. Echocardiography showed aortic root dissection with occlusion of aortic branches. She subsequently underwent an emergency lower segment caesarean section followed by surgical repair of type A dissection. A simultaneous type B dissection was managed conservatively. On later examination, our patient fulfilled the diagnostic criteria for phenotypic expression of Marfan syndrome. Genetic testing also confirmed that she has a mutation of the fibrillin (FBN 1) gene associated with the disease.

Download Full-text