Cardiac Structure and Function in Adults with Down Syndrome.

Various factors may alter the risk for cardiovascular disease in adults with Down syndrome (Ds), yet few studies have examined differences in cardiac physiology in this population. Previous research suggested lower systolic and diastolic function, but inconsistent methodologies and younger samples warrant research in adults with Ds. Our aim is to compare the cardiac structure and function of adults with Ds to age- and sex-matched adults without Ds. Echocardiography was used to assess systolic function, diastolic function, and cardiac structure in n = 19 adults (Ds n = 9, control n = 10). Regarding cardiac structure, adults with Ds had increased left ventricular posterior wall thickness at end-systole compared to adults without Ds (p = 0.007). Regarding systolic and diastolic function, adults with Ds were found to have lower septal peak systolic annular velocity (S') (p = 0.026), lower lateral and septal mitral annular early diastolic velocity (E') (p = 0.007 and p = 0.025, respectively), lower lateral peak mitral annular late diastolic velocity (A') (p = 0.027), and higher lateral and septal mitral annular early systolic velocity to diastolic velocity ratios (E/e') (p = 0.001 and p = 0.001, respectively). Differences in both cardiac structure and function were found when comparing adults with Ds to matched adults without Ds. Most of the differences were indicative of worse diastolic function.

Genomic Analysis of Thrombophilia Variants in the General Population for the Creation of an Effective Preoperative Screening Tool.

BACKGROUND: The loss of a free flap in reconstructive microsurgery is a devastating complication in both the intraoperative and postoperative setting. Previous research has identified a variety of genetic polymorphisms that induce a hypercoagulable state and predispose patients to clot formation and subsequent free flap loss. We aim to review the risks of performing microsurgery on patients who are genetically predisposed to hypercoagulability, as well as identify options, for preoperative screening of inherited thrombophilia. METHODS: A thorough literature review was conducted with an online database. A total of 30 studies were reviewed to identify genetic polymorphisms that cause inherited thrombophilia. Through manual review of the literature, a table was created that included thrombotic risk factors and their associated genetic polymorphisms. If the information was available, prevalence for each thrombotic risk was also reported. RESULTS: Overall, 18 thrombotic risk factors that contribute to hereditary thrombophilia were identified and linked with specific genes and/or genetic polymorphisms. In studies that did not look at particular ethnic groups, 13 unique thrombotic risk factors were identified. In studies that examined specific ethnic groups exclusively, 12 thrombotic risk factors were identified and related to their respective gene or group of genes. Five of the 18 thrombotic risk factors identified were associated with increased risks of both venous and arterial thrombosis. The remainder of the thrombotic risk factors was associated with increased risk of venous thrombosis exclusively. CONCLUSION: The use of genetic screening tests for hereditary thrombophilia in the preoperative setting can serve as an effective preventative measure against postoperative thrombosis. Further exploration of thrombotic risk factors and their related genetic polymorphisms are important steps in reducing postoperative free flap loss.