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Ascending thoracic aortic dissection (ATAD) is a well-known vascular cause of sudden death. Spontaneous coronary artery dissections (SCAD) are emerging as an important cause of early-onset myocardial infarction and sudden death. Genetic variants in multiple connective tissue genes have been recognized to underlie ATAD; other genetic variants have similarly been recognized to underlie SCAD. Little data are available regarding any genetic commonality between ATAD and SCAD. Our objective is to determine and characterize any genetic overlap between genes coding for ATAD and SCAD. We identified and reviewed 17 retrospective and prospective genetic studies of thoracic aortic dissection and SCAD published between 2016 and 2022 identified through PubMed and Orbis. Articles highlighting the significant plausible triggers for ATAD or SCAD individually were analyzed. No previous study reviewed both ATAD and SCAD genetics together. Separate lists of causative genes were constructed for ATAD and SCAD-and then commonalities were sought. A Venn diagram was constructed to display the genetic overlap and common physiologic pathways involved. We identified a definite, meaningful overlap of 15 independent genes based on a genome-wide association study or other genetic methods. The associated genetic pathways involved various biologic processes including elastin degradation, smooth muscle cell function, and the TGFβ-pathway. The overlapping genes included the following: COL3A1, TGFB2, SMAD3, MYLK, TGFBR2, TGFBR1, LOX, FBN1, NOTCH1, ELN, COL5A1, COL5A2, COL1A2, MYH11, and TLN1. The corresponding molecular pathways were investigated and correlated for both diseases. We are not aware of other studies searching for genetic commonalities between ATAD and SCAD. We have successfully identified overlapping genes-and their corresponding molecular pathways-for ATAD and SCAD. We hope that these insights will lead to further clinical and scientific understanding of each disease through study of their fundamental commonalities., Competing Interests: Declaration of Competing Interest Dr Elefteriades is a principal of CoolSpine and reports a relation that includes equity or stocks. The remaining authors have no competing interests to declare., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Previous studies have shown that bovine arch incidence is higher in patients with thoracic aortic aneurysms than in patients without an aneurysm. Although thoracic aortic aneurysm disease is known to be familial in some cases, it remains unknown if bovine arch results from a genetic mutation, thus allowing it to be inherited. Our objective was to determine the heritability of bovine arch from phenotypic pedigrees. We identified 24 probands from an institutional database of 202 living patients with bovine arch who had previously been diagnosed with thoracic aortic aneurysm and who had family members with previous chest computed tomography or magnetic resonance imaging scans. Aortic arch configuration of all first-degree and second-degree relatives was determined from available scans. Heritability of bovine arch was estimated using maximum-likelihood-based variance decomposition methodology implemented by way of the SOLAR package (University of Maryland, Catonsville, Maryland). 43 relatives of 24 probands with bovine arch had preexisting imaging available for review. The prevalence of bovine arch in relatives with chest imaging was 53% (n = 23) and did not differ significantly by gender (male: 64.3%, female: 55.6%, p = 1). The bovine arch was shown to be highly heritable with a heritability estimate (h 2 ) of 0.71 (p = 0.048). In conclusion, the high heritability of bovine arch in our sample population suggests a genetic basis., Competing Interests: Disclosures The authors have no conflicts of interest to declare., (Copyright © 2022 Elsevier Inc. All rights reserved.)

We have noticed, in caring for thousands of patients with ascending aortic aneurysm (AscAA), that the "thumb palm test" is often positive (with the thumb crossing beyond the edge of the palm). It is not known how accurate this test may be. We conducted the thumb-palm test in 305 patients undergoing cardiac surgery with intra-operative transesophageal echocardiography (TEE) for a variety of disorders: ascending aneurysm in 59 (19.4%) and non-AscAA disease in 246 (80.6%) (including CABG, valve repair, and descending aortic aneurysm). The TEE provided a precise ascending aortic diameter. The thumb palm test gave us a discrete, binary positive or negative result. We calculated the accuracy (sensitivity and specificity) of the thumb palm test in determining presence or absence of AscAA (defined as ascending aortic diameter > 3.8cm). Maximal ascending aortic diameters ranged from 2.0 to 6.6 cm (mean 3.48). 93 patients (30.6%) were classified as having an AscAA and 212 (69.4%) as not having an AscAA. 10 patients (3.3%) had a positive thumb-palm test and 295 patients (96.7%) did not. Sensitivity of the test (proportion of diseased patients correctly classified) was low (7.5%), but specificity (proportion of non-diseased patients correctly classified) was very high (98.5%). This study supports the utility of the thumb-palm test in evaluation for ascending thoracic aortic aneurysm. That is to say, a positive test implies a substantial likelihood of harboring an ascending aortic aneurysm. A negative test does not exclude an aneurysm. In other words, the majority of aneurysm patients do not manifest a positive thumb-palm sign, but patients who do have a positive sign have a very high likelihood of harboring an ascending aneurysm. We suggest that the thumb-palm test be part of the standard physical examination, especially in patients with suspicion of ascending aortic aneurysm (e.g. those with a positive family history)., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Aortic Z-score (Z-score) is utilized in clinical trials to monitor the effect of medications on aortic dilation rate in Marfan (MFS) patients. Z-scores are reported in relation to body surface area and therefore are a function of height and weight. However, an information void exists regarding natural, non-pharmacological changes in Z-scores as children age. We had concerns that Z-score decrease attributed to "therapeutic" effects of investigational drugs for Marfan disease connective tissue diseases might simply reflect normal changes ("filling out" of body contour) as children age. This investigation studies natural changes with age in Z-score in normal and untreated MFS children, teasing out normal effects that might erroneously be attributed to drug benefit. (1) We first compared body mass index (BMI) and Z-scores (Boston Children's Hospital calculator) in 361 children with "normal" single echo exams in four age ranges (0 to 1, 5 to 7, 10 to 12, 15 to 18 years). Regression analysis revealed that aging itself decreases ascending Z-score, but not root Z-score, and that increase in BMI with aging underlies the decreased Z-scores. (2) Next, we examined Z-score findings in both "normal" and Marfan children (all pharmacologically untreated) as determined on sequential echo exams over time. Of 27 children without aortic disease with sequential echos, 19 (70%) showed a natural decrease in root Z-score and 24 (89%) showed a natural decrease in ascending Z- score, over time. Of 25 untreated MFS children with sequential echos, 12 (40%) showed a natural decrease in root Z-score and 10 (33%) showed a natural decrease in ascending Z-score. Thus, Z-score is over time affected by natural factors even in the absence of any aneurysmal pathology or medical intervention. Specifically, Z-score decreases spontaneously as a natural phenomenon as children age and with fill out their BMI. Untreated Marfan patients often showed a spontaneous decrease in Z-score. In clinical drug trials in aneurysm disease, decreasing Z-score has been interpreted as a sign of beneficial drug effect. These data put such conclusions into doubt., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Controversy persists regarding the advisability of anticoagulation for the early period after biological surgical aortic valve replacement (AVR). We aim to examine the impact of various antithrombotic regimens on outcomes in a large cohort of biological AVR patients. Records of 1,111 consecutive adult patients who underwent surgical biological AVR at our institution between 2013 and 2017 were reviewed. Outcomes included stroke, bleeding, and death at 3 and 12 months. Treatment regimens included (1) no therapy, (2) anticoagulants (warfarin or Factor Xa inhibitors), (2) antiplateles (various), and (4) anticoagulants + antiplatelets. Kaplan-Meier analysis was used to track outcomes, and Cox-proportional hazards regression models were conducted to analyze effects of different therapies on adverse events. At 3 months, thromboembolic events were low and not significantly different between the no therapy group (2.2%) and anticoagulation (2.8%) or anticoagulation + antiplatelet (3.6%) or all groups (3.7%). The antiplatelet group was just significantly lower, at 2.2%. However, this was driven by non-stroke cardiovascular events in patients with coronary artery disease. The incidence of death at 3 months was low and not significantly different between all groups. At 12 months, there were no thromboembolic benefits between groups, but bleeding events were significantly higher in the anticoagulation group (no therapy (1.4%), anticoagulation (8.4%), antiplatelet (4.5%), anticoagulation + antiplatelet (7.9%)). In conclusion, none of the antithrombotic regimens showed benefits in stroke or survival at 3 or 12 months after biological AVR. Anticoagulation increased bleeding events. Routine anticoagulation after biological AVR appears to be unnecessary and potentially harmful., (Copyright © 2020 Elsevier Inc. All rights reserved.)