Family History Of Dissection Research Articles

Dissection of the Celiac Trunk Is a Mild Disease

ObjectiveThe purpose of this study was to assess whether the presence of an aneurysmal or dissecting arterial disease was a risk factor of poor prognosis in patients presenting a dissection of the celiac trunk (CT). MethodsAll patients presenting a CT dissection between January 1, 2014 and June 30, 2022 were included. Patients with a CT dissection due to the extension of an aortic dissection were excluded. Les antécédents familiaux de dissection, de maladie anévrysmale, de maladie athéromateuse ou du tissu conjonctif, la pratique d’une activité physique ou sportive, un effort inhabituel les jours précédant la dissection ainsi qu’un traumatisme étaient recherchés. Family history of dissection, aneurysmal disease, atheromatous or connective tissue disease, physical activity or sport, an unusual effort in the days prior to the dissection and trauma were sought after. Ischemic or aneurysmal complications in the acute phase and the evolution of the dissection were evaluated and compared between patients with an isolated dissection and those presenting an aneurysmal or dissecting arterial disease. Results45 patients were included in the study. Twenty-three (51.1%) patients presented with symptomatic CT dissection, and 22 (48.9%) with asymptomatic CT dissection. All the patients initially had medical management alone. The mean follow-up was 32 ± 25 months and all patients were asymptomatic at the time last news. 24 (53.3%) presented an isolated CT dissection, and 21 (46.7%) a CT dissection associated with aneurysmal or dissecting arterial disease. There was no significant difference between patients with an isolated CT dissection and those with an associated dissecting or aneurysmal pathology. ConclusionCT dissection is a stable disease in the midterm, which makes it a mild arterial pathology, with or without aneurysmal or dissecting anomalies in another territory. The mechanical stress exerted on the CT by the arcuate ligament could be responsible for parietal trauma and favor the occurrence of a TC dissection.

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.

Pregnancy, Marfan syndrome, and type-B aortic dissection.

Sayama et al. describe the outcome of 17 pregnancies in 15 women with a clinical or genetic diagnosis of Marfan syndrome (MS), as per the revised Ghent criteria (Dietz et al. J Med Genet 2010;47:476–85). Five women (five pregnancies) had undergone aortic root replacement prior to pregnancy, and ten women (12 pregnancies) had not. A type-B aortic dissection AD(B) occurred in three of the five with prior aortic root replacement (ARR), and in one of the ten without ARR. This case series reminds us of critically important points in the management of pregnant women with MS who have undergone ARR. The literature is sparse, but with the current paper and the four cited reports, it seems that the risk of AD(B) during pregnancy in women with MS after ARR is over 50%. Pregnancy may be a risk factor, as only 3/18 patients had a vascular event after ARR outside of pregnancy. Consequently, a preconception assessment of the aorta is essential, and if the ascending aortic diameter is 4 cm in those found with a family history of dissection and 4.5 cm in those with no family history, pregnancy should be avoided and surgery advised. Also, women should be reminded that MS is inherited with a 50% chance of recurrence, and that pre-implantation genetic screening is available. Sayama et al. imaged the aortic root only, and as their paper makes clear an abnormality may develop anywhere in the aorta. This makes it important that the full length of the aorta should be screened prior to pregnancy. In those with normal aortic dimensions the aorta should be screened in each trimester (at 12, 24, and 36 weeks of gestation). In those with pre-existing dilatation or found to have an increased diameter during pregnancy, the intervals should be shortened and early delivery considered if the rate of increase is marked, balanced with fetal maturity. Beta-blockers are advocated, although there is limited evidence of any benefit whether pregnant or not. Blood pressure should be closely monitored with a very low threshold adopted for admission and intervention, early delivery in the presence of pre-eclampsia, or the initiation of antihypertensive medication to achieve tight blood-pressure control. If the aorta is increasing in size or is already >4.0 cm at any point, then the current advice is that delivery should be via caesarean section with regional anaesthesia. There is no evidence to support this and it is possible that vaginal delivery may be as safe. This is the most critical time, as illustrated by Sayama et al., with three of the four dissections occurring in the postpartum period. Whether this is the point of greatest vulnerability or whether the events around delivery initiate a process, which only becomes apparent later, is not known; however, it is clear that women with Marfan syndrome are at high risk of dissection, and their blood pressure should be closely monitored and their aorta imaged prior to discharge. None declared. Completed disclosure of interests form available to view online as supporting information. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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.

Abstract 17817: The Incidence and Mortality Risk of Acute Thoracic Aortic Dissection: Results From a Nationwide Population-based Study

Introduction: Acute thoracic aortic dissection is a potentially lethal disease associated with high morbidity, however, contemporary data on incidence and mortality risk are lacking. Utilizing a nationwide data comprising the Icelandic population we aimed to determine the incidence, mortality and the time-dependent mortality risk of acute thoracic aortic dissection. Methods: Data was retrospectively collected using hospital discharge registries in Iceland from 1992-2013 as well as autopsy database from Medical Examiner Office. To capture all cases diagnostic codes for dissection (ICD-9: 441.1 and ICD-10: I71.0) were queried as well as for aortic aneurysm and arterial dissection. Total of 1811 charts were reviewed resulting in 153 confirmed diagnoses of acute thoracic aortic dissection. Demographics, medical history, risk factors and clinical symptoms were collected for all patients. Incidence was calculated using age and gender specific information provided by National Statistics Iceland. Results: Age and gender-adjusted incidence of acute thoracic aortic dissection was 2.5/100,000/year and no significant change in incidence was observed. The mean age was 66.9±13.6 years, 61% (94/153) were males and 66% (101/153) were Stanford type A. Of all patients diagnosed with dissection 18% (27/153) died prior to hospital arrival while the risk of death for all patients that arrived alive to a hospital was 21% (27/126) within 24 hours and 45% (57/126) at 30 days. Predictors for short-term mortality included female sex, renal disease and family history of dissection. The overall 10-year survival was 39% of which negative predictors included age, coronary artery disease, renal disease, peripheral vascular disease and family history of dissection. During the course of the study the 30-day mortality rate decreased by 0.96/year, (95% CI: 0.92- 0.99) and the 10-year survival improved significantly (p=0.04). Conclusions: Acute thoracic aortic dissection is uncommon but a lethal condition where two thirds of patients die within 30 days of the index event. The incidence remained constant but a decline in short-term mortality and increased long-term survival was observed indicating improved overall outcome in patients diagnosed with this complex condition.

What Is New in Dilatation of the Ascending Aorta?

A 61-year-old woman presented with atypical chest complaints. Her sister and brother suffered from type A aortic dissection at 47 and 39 years of age, respectively.1 The diameter of the ascending aorta was 4.6 cm as measured with magnetic resonance imaging (Figure 1). Figure 1. Magnetic resonance angiography of the ascending aorta. The diameter at the level of the ascending aorta measures 4.6 cm. The diameter of the aortic root is normal. Acute dissection of the ascending aorta is often lethal. Even when emergency surgery can be performed, associated morbidity and mortality are high. To prevent dissection of the aorta, timely operation on a patient with a known dilatation of the ascending aorta (for normal values, see Table 1) is advised, along with other supportive measures. The guideline for the management of aortic dissection published by the European Society of Cardiology (ESC) task force in 20012 recommends the following for the prevention of aortic dissection in inherited diseases (Marfan syndrome [MFS], Ehlers-Danlos syndrome, annuloaortic ectasia): lifelong β-adrenergic blockade (Class IB), moderate restriction of physical activity (Class IC), periodic routine imaging of the aorta (Class IC), prophylactic replacement of the aortic root before diameter exceeds 5.5 cm (Class 2A), and prophylactic replacement of the aortic root before diameter exceeds 5.0 cm in patients with a family history of dissection (Class 2A). These ESC recommendations received endorsement by the American College of Cardiology (ACC) in 2001. In recent years, insights into the diagnosis and management of these patients have changed. The purpose of the present article is to summarize these changes, referring to this recent case presented at our clinic. View this table: Table 1. Normal Ascending Aortic Dimensions in Adults In patients with aortic dilatation, the aortic wall can be weakened by cystic media degeneration. The media displays loss of smooth muscle cells and fragmentation …

Guidelines for the Diagnosis and Management of Marfan Syndrome

Definition and prevalence M syndrome (MFS) is an autosomal dominant connective tissue disorder involving the cardiovascular, skeletal and ocular systems, the integument, lungs and dura. Cardinal manifestations include aortic aneurysm and dissection, ocular lens dislocation and long bone overgrowth. In 90–93% of cases, MFS is caused by mutations in the FBN1 gene. Recently, mutations in a second gene (MFS2) TGFBR2, have been shown to causeMFS. The clinical criteria defined in the Ghent nosology cannot always be applied to paediatric patients. This is particularly true of children with sporadically occurring disease. Known associations with early death include new mutation, family history of dissection at <5 cm (aortic root diameter), male sex, and emergency surgery where the death rate is five times higher than in elective surgery. Pregnancy bears a 1% risk of fatal complication; this risk increases with increasing aortic root diameter. The diagnosis of MFS is largely clinical and pragmatic, based on what can be done to define the phenotype in Current early estimates quote this gene as responsible for up to 10% of all MFS cases. The prevalence of MFS is at least 1/5000 and ≥25% of cases are sporadic. Penetrance is extremely high. Isolated cases with no family history are oftenmore severely affected. Several examples of “homozygous” MFS have been reported, but only one case of compound heterozygosity at the FBN1 locus has been confirmed at the molecular level.

Disección carotídea espontánea recurrente.

Arterial dissection is the cause of 20% of the stroke occurring in adults under the age of 45. The existence of recurrence has been discussed in recent studies, and the overall frequency estimated as 4% to 8%, with a risk of 1% per year. The course of the condition is usually oligosymptomatic, so that a high index of suspicion is necessary for diagnosis to be made. We consider that different connective tissue disorders and anomalies of the vascular wall predispose to dissection. It would seen reasonable to think that these same anomalies may lead to recurrence. However, this cannot always be demonstrated. A family history of dissection is also an important factor in recurrence. We present two cases of recurrent spontaneous dissection of the carotid artery from a series of 22 patients with dissection, during the period 1990-1997. In the first case, the second dissection occurred 15 days after the first and in the second case, seven months later. In both cases the recurrence was in the contra-lateral carotid artery. In the second case the vascular tree was noted to have been formed of ecstatic, tortuous vessels. Our series shows results similar to others published. In one of these, an underlying arteriopathy which predisposed to the condition was shown. Both followed satisfactory courses. In case 2 a high index of clinical suspicion was necessary, since the recurrence presented as headache alone.