Family History Of Aortic Dissection Research Articles

Abstract 4148073: Expect the Unexpected: Type A Aortic Dissection in Pregnant Patient with Marfan Syndrome

Case Description: A 26 yo woman with Marfan Syndrome (MFS, FBN1 ), ectopia lentis, aortic dilation and no family history of MFS or aortic dissection was evaluated for preconception counseling. She was asymptomatic, and the size of her aortic root (~4cm) and ascending aorta (~3.5cm) had been stable for over 5 years. She was counseled that risk of cardiac events during her pregnancy is high, but lower compared to those with aortic sizes >4.5cm. Once pregnant, she was followed closely with imaging every trimester (MRA at 25 weeks gestation showed stable aortic sizes). Cardio-obstetric recommendations included: CARPREG II score: 2, mWHO class: III, consideration of assisted second stage due to aortic root dilation. She was counseled on symptoms of aortic dissection and to seek emergency care should those symptoms arise. At 27 weeks gestation, she presented to the ED with intense chest and neck pain, shortness of breath, and headache. Emergent CT showed aortic root (4.1cm) and proximal ascending aortic dissection with propagation into the left main coronary artery (Figure 1). She underwent emergent C-section followed by aortic root and ascending aorta replacement and mechanical aortic valve replacement due to severe regurgitation. She was discharged in stable condition 8 days after an uncomplicated post-operative recovery. Her baby is recovering in the NICU. Discussion: While risk of aortic dissection in women with MFS is higher during pregnancy, recent studies suggest relative safety with aortic root diameters up to 4.5cm. Our case highlights that even at “lower risk” aortic sizes, aortic dissection remains an important risk for such women. Educating patients and providers about the acute symptoms of aortic dissection and forming an action plan for timely intervention can be lifesaving. Furthermore, some genetic mutations (e.g. TGBR1/2 or SMAD3 ) and sequence variants within the FBN1 gene may pose a higher risk of aortic dissection at smaller aortic diameters. Our patient’s pathogenic FBN1 mutation (-c.2114-5T>G, previously classified as a VUS) highlights the importance of genetic testing: prophylactic surgery at sizes <4.5cm may be considered with high-risk genetic variants or a family history of aortic dissection.

Pregnancy and inherited aortopathies: insights from specialized care

Abstract Background Genetic counselling, pregnancy follow-up and delivery planning in women with aortopathy should be conducted by a multidisciplinary team in an expert centre. Purpose Our objective was to analyze the impact of pregnancy on aortopathy outcomes in a centre specialized in inherited cardiovascular conditions in the United Kingdom. Methods All women with aortopathy referred to our centre due to pregnancy between 2016 and 2023 were retrospectively analyzed. Demographic, clinical, obstetric, genetic, electrocardiographic, and multimodal imaging variables were collected. Results Between 2016 and 2023, 22 women with aortopathy were referred to our centre for pregnancy follow-up and delivery planning. Among them, 14 (63.6%) had Marfan syndrome (FBN1+), 4 (18.2%) family history of aortic dissection without known genetic mutations, 2 (9.1%) bicuspid aortic valve with aortic dilation and 2 (9.1%) Loeys-Dietz syndrome (SMAD3+). The average number of births per patient was 1.55. Among those with an identified mutation, 4 (25%) underwent preimplantation diagnosis. In total, there were 40 pregnancies resulting in 34 live births. 15 women (68.2%) had an aortic root dimension <40mm and 7 (31.8%) ≥40mm. There were 4 (26.7%) and 5 (71.4%) patients in each group under beta-blockers. Out of the total 40 pregnancies, there were 6 (15%) miscarriages, all in the first trimester, 2 (5%) cases of preeclampsia and 1 (2.5%) case of gestational diabetes. There were no statistically significant differences between these complications and the aortic root dimension (8 (20%) <40mm vs 1 (2.5%) ≥40mm; p = 0.160) or the absence or presence of treatment (3 (7.5%) vs 6 (15%); p = 0.769). Regarding delivery, 16 patients (72.7%) underwent vaginal delivery and 6 (27.3%) has a caesarean section. After delivery, there were 6 cases of major bleeding, 4 (10%) after vaginal delivery and 2 (5%) after caesarean (p=0.376). One patient had a subacute type A aortic dissection in the context of Marfan syndrome with an aortic root of 40mm before pregnancy. No significant differences were observed in the occurrence of these complications based on the aortic root dimension (5 (12.5%) <40mm vs 2 (5%) ≥40mm; p = 0.928) or the absence or presence of treatment (2 (5%) vs 5 (12.5%) respectively; p = 0.591). 100% of the patients survived pregnancy and the postpartum period. Conclusions Our findings underscore the complexity of managing aortopathy during pregnancy. This highlights the importance of a comprehensive risk assessment for precise pregnancy and delivery planning.

Total aortic arch debranching with antegrade Thoracic Endovascular Aortic Repair (TEVAR) in acute non-A non-B aortic dissection

BackgroundThe surgical evaluation and management of non-A non-B aortic dissections, in the absence of ascending aortic involvement, remains a grey area. It is in these scenarios when thorough evaluation of patient/family history, clinical presentation, but also overall lifestyle, is of immense importance when determining an optimal intervention.Case presentationWe present a 38-year-old patient with a physically demanding lifestyle as a professional wrestler, uncontrolled hypertension due to history of medical non-adherence, and family history of aortic dissection who presented with acute non-A non-B aortic dissection. He was spared a total arch replacement by undergoing a hybrid approach of complete aortic debranching with antegrade Thoracic Endovascular Aortic Repair (TEVAR). The patient was able to benefit from reduced cardiopulmonary bypass (CPB) time, avoidance of aortic cross clamp, circulatory arrest, and hypothermic circulation.ConclusionsThis patient’s unique composition of a physically demanding lifestyle, personal history of medical non-adherence, family history of aortic dissection, and clinical presentation required a holistic approach to understanding an ideal intervention that would be best suited long-term. Due to this contextualization, the patient was able to be spared a total arch replacement, or suboptimal medical management, by instead undergoing a hybrid-approach with total aortic arch debranching with antegrade TEVAR.

Abstract 16591: Surgical vs Non-surgical Repair of Aortic Arch in Type A Aortic Dissection: An Inverse Probability Treatment Weighting Propensity Score

Introduction: Several surgical techniques are used in acute type A aortic dissection (TAAAD). Most are treated with hemiarch or limited replacement of the ascending aorta with interposition graft while total aortic arch replacement is less frequently performed. The research question/hypothesis: Is total arch replacement justified by the favourable late outcomes despite early complications? Aims: To evaluate if conservative approaches (root-sparing and hemiarch) can improve the early and late outcomes compared to total arch replacement. Methods: From 2005 and 2021, 633 patients underwent TAAAD repair of which 192(30.0%) were women. The ascending aorta replacement with/without root-sparing (group 1) were compared to the partial or total arch replacement cohort (group 2) using propensity score matching. A regression model with inverse probability treatment weighting by propensity score (IPTW) was built to generate a weighted cohort. Results: Patients undergoing aortic arch surgery were significantly younger (mean age 61.0 vs 66.5years; p<0.001), frequently male (70%) or with a family history of aortic dissection or aneurysm (P=0.005). Antegrade cerebral perfusion was preferred when arch surgery was performed (83.5% vs33.8%, P<0.001). Post-IPTW by propensity score analysis revealed that aortic arch surgery was associated with thirty-day mortality (odds ratio 1.60; 95% CI, 1.00-2.55, p=0.05), postoperative stroke (odds ratio 2.19; 95% CI, 1.29-3.73, P=0.004), postoperative sepsis (odds ratio 1.76; 95% CI,1.08-2.87, P=0.02) and mid-term mortality (hazard ratio 1.44, 95% CI, 1.05-1.99, p=0.03). Conclusions: A tailored approach deploying ascending aorta replacement with or without root-sparing in TAAAD prompted to useful outcomes without compromising durability.

Family history of aortic dissection in patients with a FBN1 pathogenic variant

Family history of aortic dissection in patients with a FBN1 pathogenic variant

Spontaneous Coronary Artery Dissection (SCAD) and a family history of aortic artery dissection, a case series

Abstract Background/Introduction SCAD typically affects women in their fifth or sixth decade with a paucity of cardiovascular risk factors.(1) It is caused by a coronary artery intramural haematoma with or without intimal tear. Resultant luminal occlusion manifests as myocardial ischaemia/infarction or death. There are two published sporadic cases of SCAD who developed iatrogenic aortic dissection with coronary angiography.(2, 3) We are not aware of any SCAD cases with intercurrent or historical spontaneous aortic dissection. There is a published SCAD case with a familial history of aortic dissection, in her mother.(4) None of these cases reported a connective tissue disorder. Methods We searched our database of 338 SCAD cases, recruited via social media or cardiologist referral, for cases with a family history of aortic dissection. SCAD diagnosis was confirmed by review of coronary angiogram images by an expert interventional cardiologist blinded to the genetic analysis. Genomic DNA was extracted from buccal cells collected using a cheek swab or mouthwash sample. Whole genome sequencing was performed using the Illumina HiSeq X Ten platform with 30x coverage. These data are being analysed for rare variants in genes associated with familial aortopathies or connective tissue disorders (e.g. FBN1, COL3A1, TGFbR-1/2, SMAD3), as well as for novel gene associations with aortic dissection and/or SCAD. Results We identified 12 cases with a first- or second-degree relative with aortic dissection. Of these SCAD cases, 11 were female whereas 10 of 12 relatives with aortic dissection were male. In one instance, a maternal uncle, but not the index SCAD case, had Marfan's syndrome. Whole genome sequencing has been performed on the 12 SCAD cases, 2 living relatives with aortic dissection and 2 relatives linking the SCAD and aortic dissection cases. Conclusions Coronary and aortic dissections have serious consequences and in some families there may be a genetic association between the two conditions. Early identification of variant carriers is critical for disease prevention. Funding Acknowledgement Type of funding sources: Foundation. Main funding source(s): This work was supported in part by grants from the Cardiac Society of Australia and New Zealand, the National Health and Medical Research Council, Australia (APP1161200), the St Vincent's Clinic Foundation, the Catholic Archdiocese of Sydney, Perpetual Philanthropy, NSW Health and SCAD Research Inc. LMC is funded by a University Postgraduate Scholarship through University of NSW and a grant from the Avant Foundation.

Family history of aortic dissection is not a risk factor in Marfan syndrome with a FBN1 gene mutation

Abstract Background A history family of aortic dissection was considered as a risk factor for aortic dissection in patients with Marfan syndrome with a FBN1 mutation. Objectives Evaluate whether a family history of aortic dissection is a risk marker for dissection in this population Methods Retrospective study of patients coming to the reference centre between 1996 and 2018, carrying a FBN1 gene mutation. Pedigrees were obtained for each patient, and familial screening actively pursued. Patients with a family history of aortic dissection were compared with patients without family history of aortic dissection. Results 1700 patients (age 33.2 (±17) years, 51% women) with a FBN1 gene mutation were included. 145 (8,5%) patients underwent aortic dissection at a mean age of 37.9 (±11.4) years and 323 (19%) patients had been operated at 33.8 (±13.9) years. 481 patients had a family history of aortic dissection, including 38 who dissected themselves, and 88 who underwent surgery. 1219 had no family history of aortic dissection, including 107 who dissected themselves, and 235 who underwent surgery. Therefore, the personal risk for aortic dissection was similar in patients with and without a family history of aortic dissection (38/481, i.e. 7.9% vs 107/1219, i.e. 8.8%), as was the personal risk for prophylactic aortic surgery (88/481, i.e. 18.3% vs. 253/1219, i.e. 17.2%), and the risk for either aortic dissection or prophylactic aortic surgery (118/481, i.e. 24.5% vs. 328/1219, i.e. 26.9%). Conclusions In Marfan syndrome with a FBN1 gene mutation, a family history of aortic dissection is not a marker of aortic disease severity. Funding Acknowledgement Type of funding sources: None.

Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome

BackgroundAortic risk has not been evaluated in patients with Marfan syndrome and documented pathogenic variants in the FBN1 gene. ObjectivesThis study sought to describe aortic risk in a population with Marfan syndrome with pathogenic variants in the FBN1 gene as a function of aortic root diameter. MethodsPatients carrying an FBN1 pathogenic variant who visited our reference center at least twice were included, provided they had not undergone aortic surgery or had an aortic dissection before their first visit. Aortic events (aortic surgery or aortic dissection) and deaths were evaluated during the 2 years following each patient visit. The risk was calculated as the number of events divided by the number of years of follow-up. ResultsA total of 954 patients were included (54% women; mean age 23 years). During follow-up (9.1 years), 142 patients underwent prophylactic aortic root surgery, 5 experienced type A aortic dissection, and 12 died (noncardiovascular causes in 3, unknown etiology in 3, post-operative in 6). When aortic root diameter was <50 mm, risk for proven type A dissection (0.4 events/1,000 patient-years) and risk for possible aortic dissection (proven aortic dissection plus death of unknown cause, 0.7 events/1,000 patients-years) remained low in this population that was treated according to guidelines. Three type A aortic dissections occurred in this population during the 8,594 years of follow-up, including 1 in a patient with a tubular aortic diameter of 50 mm, but none in patients with a family history of aortic dissection. The risk for type B aortic dissection in the same population was 0.5 events/1,000 patient-years. ConclusionsIn patients with FBN1 pathogenic variants who receive beta-blocker therapy and who limit strenuous exercise, aortic risk remains low when maximal aortic diameter is <50 mm. The risk of type B aortic dissection is close to the remaining risk of type A aortic dissection in this population, which underlines the global aortic risk.

Maternal and fetal outcomes in pregnancies complicated by the inherited aortopathy Loeys-Dietz syndrome.

Pregnancies in women with Loeys-Dietz syndrome (LDS) are rare and are typically documented in case reports only. Early reports suggested high rates of maternal complications during pregnancy and the puerperium, including aortic dissection and uterine rupture, but information on fetal outcomes was very limited. A retrospective cohort study. Eight specialist UK centres. Pregnant women with LDS. Data was collated on cardiac, obstetric, and neonatal outcomes. Maternal and perinatal outcomes in pregnancies complicated by LDS. Twenty pregnancies in 13 women with LDS were identified. There was one miscarriage, one termination of pregnancy, and 18 livebirths. In eight women the diagnosis was known prior to pregnancy but only one woman had preconception counselling. In four women the diagnosis was made during pregnancy through positive genotyping, and the other was diagnosed following delivery. Five women had a family history of aortic dissection. There were no aortic dissections in our cohort during pregnancy or postpartum. Obstetric complications were common, including postpartum haemorrhage (33%) and preterm delivery (50%). In all, 14/18 (78%) of deliveries were by elective caesarean section, at a median gestational age at delivery of 37 weeks. Over half the infants (56%) were admitted to the neonatal unit following delivery. Women with LDS require multidisciplinary specialist management throughout pregnancy. Women should be referred for preconception counselling to make informed decisions around pregnancy risk and outcomes. Early elective preterm delivery needs to be balanced against a high infant admission rate to the neonatal unit. Pregnancy outcomes in women with Loeys-Dietz syndrome.

Obstetric and cardiac outcomes in women with Marfan syndrome and an aortic root diameter ≤ 45mm

ObjectiveTo assess obstetric and aortic outcomes in women with Marfan Syndrome according to aortic root diameter, in view of recommendations for caesarean delivery when the aortic root diameter is ≥40 mm in the 2010 American guidelines versus >45 mm in the 2011 European guidelines. Study designIn this retrospective cohort study conducted at Sainte-Justine Mother and Child Tertiary Hospital, 27 pregnancies in 20 women with Marfan Syndrome as defined by the international criteria, were followed prospectively between 1994 and 2017, after excluding women with prior aortic surgery. Obstetric and aortic outcomes were compared in 2 groups according to aortic root diameter: < 40 mm (21 pregnancies) and 40–45 mm (6 pregnancies). Results21/27 women had a vaginal delivery. The caesarean section rate was 23.8% and 16.7% in women with diameter <40 mm and 40–45 mm respectively (p-value = 1), and perinatal outcome was similar across groups. Two women with a prepregnancy aortic root diameter <40 mm developed an acute type B dissection during the third trimester. Both had a family history of aortic dissection. ConclusionsVaginal delivery with rigorous pain control and avoidance of Valsalva maneuver may be safely considered in women with Marfan Syndrome and an aortic root diameter ≤45 mm. The risk of type B aortic dissection during pregnancy is hard to predict. Other factors such as family history of dissection and descending aorta size may play an important role, and this may modify our counselling.

Feasibility of performing non-contrast magnetic resonance angiography in pregnant subjects with familial aortopathies

BackgroundPregnancy is associated with an increased risk of aortic pathology. We sought to assess the feasibility of performing non-contrast 3D steady-state free-precession (SSFP) magnetic resonance angiography (MRA) in pregnant subjects with inherited aortopathy. MethodsFifteen pregnant subjects (age 27±4yr) with positive genotyping for aortopathy (Marfan, Loeys-Dietz, Ehlers-Danlos) and/or a family history of aortic dissection underwent non-contrast 3D-SSFP MRA at 1.5T (Avanto, Siemens Healthcare, Erlangen, Germany) using a modified ECG-triggered orientated in a sagittal-oblique plane with a respiratory navigator at the diaphragmatic level (mean acquisition time 4.1±1.9min). Imaging was performed during the mid-trimester (21±5weeks). Image analysis was performed off-line using Cvi42 software (Circle Cardiovascular Imaging, Calgary, Canada). An assessment of image quality (score 0–3) was made before performing inner edge to inner edge measurements of the thoracic aorta at 7 levels from the multiplanar reconstructions by two independent blinded observers. ResultsNon-contrast 3D-MRA was successfully acquired in all 15 subjects. Image quality was deemed excellent in 87% (13/15) of cases after a mean acquisition time of 4.1±1.9min. There was a high level of agreement for aortic measurements, with low intra- and inter-observer variability (ICC ranges; 0.95–0.99 and 0.92–0.98, respectively). All pregnancies reached term (≥37/40) with a mean gestation at delivery of 38.0±0.5weeks. The mode of delivery was vaginal in 9 out of 15 subjects (60%). ConclusionsNon-contrast SSFP MRA imaging provides a quick and reproducible method of assessing the thoracic aorta in pregnancy.

Positive family history of aortic dissection dramatically increases dissection risk in family members

ObjectivesAlthough family members of patients with aortic dissection (AoD) are believed to be at higher risk of AoD, the prognostic value of family history (FH) of aortic dissection (FHAD) in family members of patients with AoD has not been studied rigorously. We seek examine how much a positive FHAD increases the risk of developing new aortic dissection (AoD) among first-degree relatives. MethodsPatients with AoD at our institution were analyzed for information of FHAD. Positive FHAD referred to that AoD occurred in index patient and one or more first-degree relatives. Negative FHAD was defined as the condition in which only one case of AoD (the index patient) occurred in the family. The age at AoD, exposure years in adulthood before AoD, and annual probability of AoD among first-degree relatives were compared between patients with negative and positive FHADs. ResultsFHAD was positive in 32 and negative in 68 among the 100 AoD patients with detailed family history information. Mean age at dissection was 59.9±14.7years. Compared to negative FHAD, patients with positive FHAD dissected at significantly younger age (54.7±16.8 vs 62.4±13.0years, p=0.013), had more AoD events in first-degree relatives (2.3±0.6 vs 1.0±0.0, p<0.001), and shorter exposure years per AoD event (18.3±6.7 vs 43.1±8.5, p<0.001). Annual probability of AoD per first-degree relative was 2.77 times higher in patients with positive than negative FHADs (0.0100±0.0057 vs 0.0036±0.0014, p<0.001). ConclusionsA positive FHAD confers a significantly increased risk of developing aortic dissection on family members, with a higher annual probability of aortic dissection, a shorter duration of “exposure time” before dissection occurs and a lower mean age at time of dissection.

Acute Type A Aortic Dissection in a 37-Week Pregnant Patient: An Unusual Clinical Presentation

BackgroundAortic dissection in pregnancy is relatively rare, but it is often fatal. The estimated incidence of aortic dissection in the general population is 2.9 per 100,000 person-years. Early recognition and treatment of aortic dissections are crucial for survival. Whereas the majority of patients who present with aortic dissection are older than 50 years of age and have a history of hypertension, younger patients with connective tissue disease, bicuspid aortic valves, or a family history of aortic dissection are also at increased risk for developing this condition. Case ReportWe report the successful diagnosis and surgical repair of an acute type A aortic dissection in a 35-year-old woman who presented to the emergency department (ED) at 37 weeks of gestation. Why Should an Emergency Physician Be Aware of This?Emergency physicians should be alert to the possibility of aortic dissection in any pregnant woman who presents to the ED with unexplained chest, abdominal, or back pain, even those without risk factors for aortic dissection.

Nonsyndromic Thoracic Aortic Aneurysm and Dissection: Outcomes With Marfan Syndrome Versus Bicuspid Aortic Valve Aneurysm

BackgroundGenetic aortopathy (GA) underlies thoracic aortic aneurysms (TAA) in younger adults. Comparative survival and predictors of outcomes in nonsyndromic TAA (NS-TAA) are incompletely defined compared to Marfan syndrome (MFS) and bicuspid aortic valve (BAV). ObjectivesThe study sought to compare survival and clinical outcomes for individuals with NS-TAA, MFS, and BAV. MethodsFrom 1988 to 2014, all patients presenting with GA 16 to 60 years of age were enrolled in a prospective study of clinical outcomes. Risk factors for death and aortic dissection were identified by Cox proportional hazards modeling and a mortality risk score developed. ResultsDiagnosis of GA was made for 760 patients (age 36.9 ± 13.6 years, 26.8% female; NS-TAA, n = 311; MFS, n = 221; BAV, n = 228). MFS patients were younger than NS-TAA and BAV. Presentation with aortic dissection was more common for NS-TAA than MFS or BAV. The 687 patients surviving >30 days after presentation were followed for a median of 7 years. Calculated 10-year mortality was 7.8% for NS-TAA, 8.7% for MFS, and 3.5% for BAV (NS-TAA and MFS vs. BAV p <0.05). Factors associated with all-cause mortality were MFS (p = 0.04), age at presentation, and family history of dissection. ConclusionsClinical outcomes for MFS and NS-TAA are similar but worse than BAV. Independent predictors of mortality, including family history of aortic dissection and age, can be included in an Aortopathy Mortality Risk Score to predict survival. Management of NS-TAA, including surgical intervention, should be similar to that of MFS.

Acute Type A Aortic Dissection in a 36-Week Pregnant Patient

Aortic dissection is a relatively rare yet often fatal condition. Early recognition and treatment are crucial for survival. While the majority of patients who present with aortic dissection are older than 50 years of age and have a history of hypertension, younger patients with connective tissue disease, bicuspid aortic valves, and a family history of aortic dissection are also at an increased risk for developing this condition. A review of the literature revealed a paucity of published cases describing the successful, emergent repair of acute type A aortic dissections in third- trimester gravid patients. We present the case of the successful diagnosis and surgical repair of a 41-year-old female who presented to the emergency department with an acute type A aortic dissection at 36 weeks of gestation.

Profound pectus excavatum in Marfan's syndrome

A 30year-old man with Marfan’s syndrome and a family history of aortic dissection presented to our cardiovascular magnetic resonance (CMR) unit for assessment of his aorta because echocardiography had shown aortic root dilatation (46 mm). On examination, he had profound pectus excavatum (fi gure A). CMR showed levocardia (fi gure B) and severe costal recession (fi gure C); however, right ventricular dimensions and ejection fraction (fi gure D) were normal. CMR also showed aortic root dilatation with otherwise normal aortic arch calibre and Lancet 2012; 379: 557

The prevalence and clinical impact of obesity in adults with Marfan syndrome

Patients with Marfan syndrome characteristically have an asthenic body habitus and are considered to be exempt from the obesity epidemic. To examine the prevalence and clinical impact of obesity in a cohort of adults with Marfan syndrome. Fifty outpatients (30 female) with a mean (+/- SD) age of 38+/-13 years were studied. Demographic variables including previously identified risk factors for aortic dissection were recorded. Body mass index (BMI) was determined and patients were classified as normal (BMI less than 25 kgm2), overweight (BMI 25 kgm2 to 29.9 kgm2) or obese (BMI 30 kgm2 or greater). Other cardiovascular risk factors were examined. An adverse clinical outcome was defined as either the attainment of surgical criteria for aortic root replacement or the presence of aortic dissection. A family history of aortic dissection was present in 13 (26%) patients. In 23 (46%) patients, there was no known family history of Marfan syndrome. Mean BMI was 25.4+/-7.4 kgm2, with 18 (36%) patients having an elevated BMI. Positive smoking status was present in 15 (30%), hypertension in 13 (26%) and hyperlipidemia in 19 (38%) patients. Adverse clinical outcome was present in 27 (54%) patients. Logistic regression analysis revealed only index case (OR 44; P<0.001) and higher BMI (OR 1.2; P=0.04) to be significantly and independently associated with increased risk of adverse clinical outcome. Obesity is common in adults with Marfan syndrome and is associated with an increased risk of aortic complications.

Surgical Treatment of Ascending Aorta and Aortic Root Aneurysms

Aneurysms of the aortic root and ascending aorta are often due to degenerative disease of media. Aneurysm of the aortic root often affects patients in their second to fourth decades of life, whereas aneurysm of the ascending aorta occurs mostly in the fifth to seventh decades of life. These aneurysms can cause aortic insufficiency, dissection, and/or rupture. Current guidelines recommend surgical treatment when the diameter of the aneurysm exceeds 50 mm. In patients with family history of aortic dissection or with Loyes-Dietz syndrome (a more severe form of Marfan syndrome), surgery should be considered when they are even smaller. Composite replacement of the aortic valve and ascending aorta used to be the standard treatment for patients with aortic root aneurysms. During the past 2 decades, a conservative procedure whereby the aneurysm is replaced with Dacron graft and the aortic valve is preserved has gained widespread use, and the results have been excellent in experienced hands.

Management of the Aortic Root in Adult Patients With Conotruncal Anomalies

Conotruncal anomalies such as tetralogy of Fallot, double outlet right ventricle, truncus arteriosus, and transposition of the great arteries are a group of congenital heart defects with abnormalities of the outflow tracts and great vessels. It is common for the ascending aorta and aortic root to be significantly dilated following initial repair of the conotruncal anomaly, and little information is available on the management of this increasing problem. Although there are few case reports of aortic dissection and rupture in the literature, it appears to be rare in the setting of a conotruncal anomaly and may be related to the absence of hypertension and smoking in many of these patients. The timing of operation with regard to the size of the aortic root is difficult. In the absence of a family history of aortic dissection or aneurysm, or documented rapid growth of the ascending aorta, we proceed with replacement of the ascending aorta when the size is > or = 55 mm. When the size of the ascending aorta is 5.0-5.5, treatment is individualized depending on the associated anomalies that need to be addressed, patient comorbidities, and life expectancy. In this group of patients we consider a simple reduction ascending aortoplasty. We generally proceed with root replacement and coronary reimplantation when there is effacement of the sinotubular junction, or when there is severe dilatation of the aortic root with an intact sinotubular junction. If the ascending aorta is > or = 55 mm with an intact sinotubular junction and the sinuses are < or = 4 cm, then we use a supracoronary tube graft.

Aortic Root Replacement with a Composite Valved Conduit

Currently there are several operative techniques in use aroundtheworldtoaddressaorticrootpathologicproblems. These include valve-sparing aortic root replacement, stentless porcine aortic root replacement, pulmonary autograft root replacement, and composite valved graft conduits (CVG) housed with either a mechanical or in some cases a bioprosthetic valve. The CVG root replacement is the most time tested of all options and was first described by Bentall and DeBono in 1968. 1 Since then there have been many published series that have extended out beyond 20 years that demonstrate the efficacy of this approach. The indications for aortic root replacement include aneurysmal disease, aortic dissection when the primary tear occurs in the aortic root or with concomitant aortic valve disease or aneurysmal disease, and invasive aortic valve endocarditis that involves the aortic root. Most commonly aortic root replacement is performed for aneurysmal disease that stems from a degenerative process or is secondary to a genetic abnormality that predisposes to proximal aortic dilation as in Marfan syndrome, Loeys‐Dietz syndrome, Ehlers‐Danlos syndrome vascular-type (type IV), familial aortic aneurysm or dissection syndromes, and aneurysm associated with bicuspid aortic valve. Abnormal aortic root and ascending aortic dimensions have been determined based on patient age and body size. Accrual of large amounts of echocardiographic and crosssectional imaging data from normal individuals has allowed the development of regression formulas and nomograms to define abnormal aortic dilation. For example, an individual 18 to 40 years old will have an average aortic diameter at the sinus level equal to 0.97 (1.12 BSA [m 2 ]) (cm). The upper limit of normal is 2.1 cm/m 2 for the sinus segment in most adults. The aorta is pathologically dilated if its diameter exceedsthenormforagivenageandbodysurfacearea(BSA). Itisdefinedasananeurysmifitsdiameteris50%greaterthan the norm. There remains some debate as to what the indication for operative intervention should be based on maximal orthogonal diameter alone without consideration of other clinical factors like aortic valve pathologic complications. Clearly, there are cohorts of patients with aortic root and ascending aortic aneurysms that are at higher risk of an aortic catastrophe (dissection, disruption, or sudden death) than others, like patients with a bona fide connective tissue disorder or family history of aortic dissection. Moreover, surgeon experience with aortic root replacement operations varies widely. Highvolumecentershavetendedtogeneratethebestresults,