X-linked genetic associations in sporadic thoracic aortic dissection.

The male predominance in sporadic thoracic aortic aneurysm and dissection (TAD) suggests that the X chromosome contributes to TAD, but this has not been tested. We investigated whether X-linked variation-common (minor allele frequency [MAF] ≥0.01) and rare (MAF <0.01)-was associated with sporadic TAD in three cohorts of European descent (Discovery: 364 cases, 874 controls; Replication: 516 cases, 440,131 controls, and ARIC [Atherosclerosis Risk in Communities study]: 753 cases, 2247 controls). For analysis of common variants, we applied a sex-stratified logistic regression model followed by a meta-analysis of sex-specific odds ratios. Furthermore, we conducted a meta-analysis of overlapping common variants between the Discovery and Replication cohorts. For analysis of rare variants, we used a sex-stratified optimized sequence kernel association test model. Common variants results showed no statistically significant findings in the Discovery cohort. An intergenic common variant near SPANXN1 was statistically significant in the Replication cohort (p = 1.81 × 10-8). The highest signal from the meta-analysis of the Discovery and Replication cohorts was a ZNF182 intronic common variant (p = 3.5 × 10-6). In rare variants results, RTL9 reached statistical significance (p = 5.15 × 10-5). Although most of our results were statistically insignificant, our analysis is the most comprehensive X-chromosome association analysis of sporadic TAD to date.

Total laparoscopic retrieval of inferior vena cava filter.

While there is some local variability in the use of inferior vena cava filters and there has been some evolution in the indications for filter placement over time, inferior vena cava filters remain a standard option for pulmonary embolism prophylaxis. Indications are clear in certain subpopulations of patients, particularly those with deep venous thrombosis and absolute contraindications to anticoagulation. There are, however, a variety of reported inferior vena cava filter complications in the short and long term, making retrieval of the filter desirable in most cases. Here, we present the case of a morbidly obese patient complaining of chronic abdominal pain after inferior vena cava filter placement and malposition of the filter with extensive protrusion outside the inferior vena cava. She underwent successful laparoscopic retrieval of her malpositioned inferior vena cava filters after failure of a conventional endovascular approach.