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Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominant transmission and are genetically heterogeneous. Our objective was to describe the relevance of molecular diagnosis in these patients and the contribution of each gene in nshTAAD. Two hundred twenty-six consecutive nshTAAD probands, either young (<45 years) sporadic or familial cases were included. A next-generation sequencing capture panel comprising 23 known disease-causing genes was performed. Class 4 or 5 variants were identified in 18% of the nshTAAD probands, while class 3 variants were found in 10% of them. The yield in familial cases was greater than in sporadic cases. SMAD3 and FBN1 genes were the major disease-causing genes. Unexpectedly, no premature termination codon variant was identified in the FBN1 gene. Furthermore, we report for the first time that aortic dissection or surgery occurred significantly more often and earlier in probands with a class 4 or 5 pathogenic variant. This study indicates that genetic screening using NGS is efficient in young and familial nshTAAD. The presence of a pathogenic variant has a possible predictive value, which needs to be further investigated because it may influence care.

A new appraisal of the management of acute aortic dissection is timely because of recent developments in diagnostic strategies (including biomarkers and imaging), endograft design, and surgical treatment, which have led to a better understanding of the epidemiology, risk factors, and molecular nature of aortic dissection. Although open surgery is the main treatment for proximal aortic repair, use of endovascular management is now established for complicated distal dissection and distal arch repair, and has recently been discussed as a pre-emptive measure to avoid late complications by inducing aortic remodelling.

Background and objectivesIn personalised external aortic root support (PEARS), a custom-made, macroporous mesh is used to stabilise a dilated aortic root and prevent dissection, primarily in patients with genetically driven aortopathies. Data are needed on the safety and postoperative incidence of aortic events.MethodsWe present a multicentre cohort study evaluating the first 200 consecutive patients (median age 33 years) undergoing surgery with an intention to perform PEARS for aortic root dilatation in 23 centres between 2004 and 2019. Perioperative outcomes were collected prospectively while clinical follow-up was retrieved retrospectively. Median follow-up was 21.2 months.ResultsThe main indication was Marfan syndrome (73.5%) and the most frequent concomitant procedure was mitral valve repair (10%). An intervention for myocardial ischaemia or coronary injury was needed in 11 patients, 1 case resulting in perioperative death. No ascending aortic dissections were observed in 596 documented postoperative patient years. Late reoperation was performed in 3 patients for operator failure to achieve complete mesh coverage. Among patients with at least mild aortic regurgitation (AR) preoperatively, 68% had no or trivial AR at follow-up.ConclusionsThis study represents the clinical history of the first 200 patients to undergo PEARS. To date, aortic dissection has not been observed in the restrained part of the aorta, yet long-term follow-up is needed to confirm the potential of PEARS to prevent dissection. While operative mortality is low, the reported coronary complications reflect the learning curve of aortic root surgery in patients with connective tissue disease. PEARS may stabilise or reduce aortic regurgitation.

Cardiovascular disease complicates 1–4% of pregnancies — with a higher prevalence when including hypertensive disorders — and is the leading cause of maternal death. In women with known cardiovascular pathology, such as congenital heart disease, timely counselling is possible and the outcome is fairly good. By contrast, maternal mortality is high in women with acquired heart disease that presents during pregnancy (such as acute coronary syndrome or aortic dissection). Worryingly, the prevalence of acquired cardiovascular disease during pregnancy is rising as older maternal age, obesity, diabetes mellitus and hypertension become more common in the pregnant population. Management of cardiovascular disease in pregnancy is challenging owing to the unique maternal physiology, characterized by profound changes to multiple organ systems. The presence of the fetus compounds the situation because both the cardiometabolic disease and its management might adversely affect the fetus. Equally, avoiding essential treatment because of potential fetal harm risks a poor outcome for both mother and child. In this Review, we examine how the physiological adaptations during pregnancy can provoke cardiometabolic complications or exacerbate existing cardiometabolic disease and, conversely, how cardiometabolic disease can compromise the adaptations to pregnancy and their intended purpose: the development and growth of the fetus.In this Review, Roos-Hesselink and colleagues describe how the physiological adaptations during pregnancy can induce cardiometabolic complications or an exacerbation of existing cardiometabolic disease, and discuss the epidemiology, pathophysiology, diagnosis and management of cardiometabolic diseases acquired or presenting during pregnancy, including hypertensive disorders, gestational diabetes mellitus, thromboembolic disorders and peripartum cardiomyopathy.

BackgroundWomen with Turner syndrome (TS) are at increased risk of aortic dissection, which is related to ascending aortic diameter. However, the relation between aortic diameter and outcome is not well determined. This study evaluates the prevalence of aortic dilatation, the growth rate of the aorta and the risk of aortic complications in adults with TS.MethodsSingle centre, retrospective study of all women with TS followed with a strict protocol in an outpatient TS clinic. Aortic diameters were analysed using advanced imaging. The primary outcome was a combined endpoint of aortic-related mortality, aortic dissection and preventive aortic surgery. The secondary endpoint was aortic growth and prevalence of aortic dilatation, defined as an aortic size index >20 mm/m2 at baseline.ResultsAt least one cardiac MR/CT was available in 268 women with TS, having median age of 28.7 (IQR: 21.3–39.7) years. Aortic dilatation was present in 22%. Linear regression identified independent factors associated with larger aortic diameters: age (coefficient=0.23; p<0.001), hypertension (coefficient=2.7; p<0.001), bicuspid aortic valve (coefficient=3.3; p<0.001), 45XO karyotype (coefficient=1.7; p=0.002), weight (coefficient=0.075; p<0.001) and growth hormone treatment (coefficient=1.4; p=0.044). During follow-up (6.8±3.2 years), five women (2%) reached the primary endpoint (two dissections, three aortic surgery). Women withmore than one scan (n=171; 1015 patient-years follow-up), the median aortic growth was 0.20 (IQR: 0.00–0.44) mm/year. In multivariate analysis, aortic growth was not associated with baseline aortic diameter or other variables.ConclusionsAortic dilatation is common and known associations were confirmed in large adult TS cohort However, aortic dissection, related mortality and preventive aortic surgery are rare. Growth hormone treatment in childhood was associated with aortic dimensions.

We summarise advances in the epidemiology, presentation, pathogenesis, diagnosis, and management of acute aortic dissection. Improved understanding of this problem has been assisted not only by establishment of an international registry but also by progress in molecular biology and genetics of connective-tissue diseases. Advances in endovascular products and techniques have provided new treatment options. Open surgical repair remains the main treatment for dissection in the ascending aorta, whereas endovascular treatment is increasingly being used in dissection that is limited to other parts of the aorta.

The occurrence of acute aortic dissection with the initiating tear in the ascending aorta superimposed on cardiovascular syphilis is an exceedingly rare occurrence. Such was the case, however, in a recently seen patient who presented with typical features of acute dissection (type A). Operative repair yielded the entire ascending aorta to examine both grossly and histologically and classic features of both conditions were observed.

Purpose To describe an innovative technique to occlude distal backflow into a false lumen aneurysm by controlled rupture of the dissection membrane after stent-graft implantation. Technique The “Knickerbocker technique” involves relining the true lumen in the descending aorta with an oversized thoracic tubular endograft, followed by controlled rupture of the dissection membrane using a large compliant balloon within the graft's midsection. This maneuver, which allows expansion of the stent-graft's midsection into the false lumen, was developed in order to occlude the large false lumen distally and thus prevent continued false lumen perfusion through distal abdominal entry tears. The technique has been successfully used in 3 patients with ruptured or symptomatic chronic false lumen aneurysm in type B aortic dissection. There was no short-term mortality associated with the procedure. After a mean follow-up of 8 months, the false lumen aneurysm remained thrombosed, with no mortality after a mean clinical follow-up of 22 months. Conclusion The Knickerbocker technique appears to be feasible and effective in inducing false lumen thrombosis in selected patients who undergo stent-grafting for chronic type B aortic dissection.

Aortic dissection is a life-threatening condition caused by a tear in the intimal layer of the aorta or bleeding within the aortic wall, resulting in the separation (dissection) of the layers of the aortic wall. Aortic dissection is most common in those 65–75 years of age, with an incidence of 35 cases per 100,000 people per year in this population. Other risk factors include hypertension, dyslipidaemia and genetic disorders that involve the connective tissue, such as Marfan syndrome. Swift diagnostic confirmation and adequate treatment are crucial in managing affected patients. Contemporary management is multidisciplinary and includes serial non-invasive imaging, biomarker testing and genetic risk profiling for aortopathy. The choice of approach for repairing or replacing the damaged region of the aorta depends on the severity and the location of the dissection and the risks of complication from surgery. Open surgical repair is most commonly used for dissections involving the ascending aorta and the aortic arch, whereas minimally invasive endovascular intervention is appropriate for descending aorta dissections that are complicated by rupture, malperfusion, ongoing pain, hypotension or imaging features of high risk. Recent advances in the understanding of the underlying pathophysiology of aortic dissection have led to more patients being considered at substantial risk of complications and, therefore, in need of endovascular intervention rather than only medical or surgical intervention. Aortic dissection is a medical emergency that occurs when the layers of the aortic wall are forced apart by bleeding, creating a false route of blood flow. Important risk factors for aortic dissection include hypertension and connective tissue disorders.

Objective To evaluate the role of D-dimer and C reactive protein (CRP) in predicting inhospital death in acute aortic dissection (AD). Design A single-centre prospective study. Setting University hospital in China. Patients 114 patients with acute AD. Intervention Admission D-dimer and CRP concentrations were assayed. Main outcome measures To observe the association of D-dimer and CRP with inhospital death. Results Increased levels of plasma D-dimer (9.84±3.53 vs 4.28±1.99, P < 0.001), CRP (14.08±2.81 vs 11.18±1.85, P < 0.001) and aortic diameter (45.2±9.5 vs 40.3±6.0, p = 0.007) were found in dead patients compared with those survived. Moreover, plasma D-dimer concentrations in type A were higher than that in type B (6.51±4.11 vs 4.87±2.29, p = 0.013). Plasma D-dimer concentrations had positive correlations with CRP levels (r=0.527, P < 0.001) and aortic diameter (r=0.227, p = 0.015), and had negative correlations with the type of AD (r=−0.232, p = 0.013) and the time from onset (r=−0.264, p = 0.005). D-dimer and CRP levels and the type of AD were strongly associated with inhospital mortality. The OR and 95% CI were 3.272, 1.638 to 6.535; 2.322, 1.134 to 4.757; and 0.126, 0.019 to 0.853, respectively. Furthermore, the sensitivity and specificity of D-dimer ≥5.67 μg/mL in predicting inhospital death in acute AD were 90.3% and 75.9% (95% CI 0.85 to 0.96), respectively. Moreover, the sensitivity and specificity of CRP levels ≥11.21 mg/L were 100% and 54.2%, respectively (95% CI 0.74 to 0.89). Conclusions D-dimer ≥5.67 μg/mL, CRP ≥11.21 mg/L and type A acute AD were important risk factors and independently associated with acute AD inhospital death.