Citations

Abstract Background DDX3X- syndrome is a rare neurodevelopmental disorder characterized by varying degrees of intellectual disability, predominantly affecting females. We present an institutional cohort supplemented by a systematic literature review, expanding the cardiovascular phenotype of DDX3X- syndrome. Methods We conducted a retrospective chart review of patients diagnosed with DDX3X -syndrome at Mayo Clinic. Additionally, we performed a systematic literature review to identify studies reporting cardiovascular abnormalities in patients with DDX3X -syndrome. Results A total of 200 patients with DDX3X -syndrome were analyzed, comprising 14 patients from our institutional cohort and 186 patients identified through a systematic review of 9 published studies. Our institutional cohort included 14 patients (12 females and 2 males) from 13 unrelated families diagnosed with DDX3X -syndrome, at a median age of 4.5 years (IQR 1.2–9.5). Echocardiogram was performed on nine patients, and cardiovascular abnormalities were found in 7 out of 9 patients who underwent echocardiography (78%), two of whom had major congenital heart defect (CHD) requiring surgical intervention. At the time of assessment, 13 individuals were still alive, while one had died at age six due to extracardiac complications. The systematic review included 9 studies involving 186 patients, of whom 32 (17.4%, 25 females and 7 males) had reported cardiovascular abnormalities, ranging from simple CHDs to more complex defects. Conclusion DDX3X -syndrome carries a significant cardiovascular burden, which is possibly higher than previously reported, including complex congenital heart disease requiring surgical repair. A thorough cardiovascular assessment, including an electrocardiogram and echocardiogram, should be universally recommended for all patients at the time of diagnosis.

Abstract Background: Penetrating diaphragmatic injuries are associated with a high incidence of posttraumatic empyema. We analyzed the contribution of trauma severity, specific organ injury, contamination severity, and surgical management to the risk of Posttraumatic empyema in patients who underwent surgical repair of diaphragmatic injuries at a level 1 trauma center.Methods: This is a retrospective review of the patients who survived more than 48 hours. Univariate OR calculations were performed to identify potential risk factors. Multiple logistic regression was used to calculate adjusted ORs and identify independent risk factors.Results: We included 192 patients treated from 2011 to 2020. There were 169 (88.0) male. The mean interquartile range, (IQR) of age was 27 (22 - 35) years. Gunshot injuries occurred in 155 subjects (80.7%). Mean (IQR) NISS and ATI were 29 (18 - 44) and 17 (10 - 27), respectively. Thoracic AIS was >3 in 38 patients (19.8%). Hollow viscus was injured in 105 cases (54.7%). Stomach in 65 (33.9%), colon in 52 (27.1%), small bowel in 42 (21.9%), and duodenum in 10 (5.2%). Visible contamination was found in 76 patients (39.6%).Potential thoracic contamination was managed with a chest tube in 128 cases (66.7%), with transdiaphragmatic pleural lavage in 42 (21.9%), and with Video Assisted Thoracoscopy Surgery or thoracotomy in 22 (11.5%). Empyema occurred in 11 patients (5.7%). Multiple Logistic Regression identified thoracic AIS >3 (OR 6.4, 95% CI 1.77 – 23. 43), and visible contamination (OR 5.13, 95% IC 1.26 – 20.90) as independent risk factors. The individual organ injured, or the method used to manage the thoracic contamination did not affect the risk of posttraumatic empyema.Conclusion: The severity of the thoracic injury and the presence of visible abdominal contamination were identified as independent risk factors of empyema after penetrating diaphragmatic trauma.

Abstract OBJECTIVES This study analyzes the safety and outcomes of mitral valve repair for degenerative mitral valve regurgitation in patients 75 years of age or older. METHODS We retrospectively reviewed the clinical results of 343 patients aged ≥75 years who underwent mitral valve repair for degenerative mitral valve regurgitation as a primary indication between January 1998 and June 2017. RESULTS The median (interquartile range) age of the patients was 79.4 (76.9, 82.9) years, and 132 (38.5%) patients were women. Concomitant procedures were performed in 123 patients: tricuspid surgery in 68 (19.8%) and a maze procedure or pulmonary vein isolation in 55 (16.0%). Operative mortality was 1.2%. Operative complications included atrial fibrillation in 37.9%, prolonged ventilation in 7.0%, pacemaker implantation in 3.8, renal failure requiring dialysis in 1.5 and stroke in 3 (0.9%). The median follow-up was 7.4 years (interquartile range, 3.5–14.1 years). The cumulative incidence rates of mitral valve reoperation were 2.2%, 3.2% and 3.2% at 1, 5 and 10 years, respectively. Overall survival at 1, 5 and 10 years were 95%, 83% and 51%, respectively. Older age, smoking and over and underweight were associated with increased risk of mortality, while higher left ventricular ejection fraction and hypertension were associated with reduced risk. CONCLUSIONS Mitral valve repair in elderly patients can be accomplished with low operative mortality and complications. Mitral valve repair in the elderly remains the preferred treatment for degenerative mitral regurgitation.