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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.

Coronary-artery dissections account for less than 1% of acute myocardial infarctions, occur most commonly in women and most often between the ages of 47 and 53 years, may be associated with an underlying disorder such as fibromuscular dysplasia and other noncoronary arterial abnormalities, and are usually treated medically.

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.

Background The platelet-lymphocyte ratio (PLR), a novel inflammatory marker, is generally associated with increased in-hospital mortality risk. We aimed to investigate the association between PLR and postoperative in-hospital mortality risk in patients with type A acute aortic dissection (AAAD). Methods Patients (n = 270) who underwent emergency surgery for AAAD at Xiangya Hospital of Central South University between January 2014 and May 2019 were divided into three PLR-based tertiles. We used multiple regression analyses to evaluate the independent effect of PLR on in-hospital mortality, and smooth curve fitting and a segmented regression model with adjustment of confounding factors to analyze the threshold effect between PLR and in-hospital mortality risk. Results The overall postoperative in-hospital mortality was 13.33%. After adjusting for confounders, in-hospital mortality risk in the medium PLR tertile was the lowest (Odds ratio [OR] = 0.20, 95% confidence interval [CI] = 0.06–0.66). We observed a U-shaped relationship between PLR and in-hospital mortality risk after smoothing spline fitting was applied. When PLR < 108, the in-hospital mortality risk increased by 10% per unit decrease in PLR (OR = 0.90, P  = 0.001). When the PLR was between 108 and 188, the mortality risk was the lowest (OR = 1.02, P  = 0.288). When PLR > 188, the in-hospital mortality risk increased by 6% per unit increase in PLR (OR = 1.06, P  = 0.045). Conclusions There was a U-shaped relationship between PLR and in-hospital mortality in patients with AAAD, with an optimal PLR range for the lowest in-hospital mortality risk of 108–188. PLR may be a useful preoperative prognostic tool for predicting in-hospital mortality risk in patients with AAAD and can ensure risk stratification and early treatment initiation.