Gallego-Navarro, Carlos

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 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.