Outcomes After Transcatheter Aortic Valve Replacement in Patients with Severe Aortic Stenosis and Diastolic Dysfunction.

OBJECTIVES: Left ventricular diastolic dysfunction (LVDD) in patients undergoing transcatheter aortic valve replacement (TAVR) is associated with poor outcomes; however, the effect of its severity is controversial. We sought to assess the impact of diastolic dysfunction on hospital outcomes and survival after TAVR and identify prognostic factors. METHODS: We included patients who underwent TAVR for severe aortic stenosis with preexisting LVDD from 2009 to 2018 (n = 325). Patients with prior mitral valve surgery (n = 4), atrial fibrillation (n = 39), missing or poor baseline diastolic dysfunction assessment (n = 36) were excluded. The primary endpoint was all-cause mortality. 246 patients were included in the study. RESULTS: The median age was 80 years (25th and 75th percentiles:75-86.7), 154 (62.6%) were males and the median EuroSCORE II was 4.3 (2.2-8). Patients with severe LVDD had significantly higher EuroSCORE, and lower ejection fraction (p < 0.001). There was no difference in post-TAVR new atrial fibrillation (p = 0.912), pacemaker insertion (p = 0.528), stroke (p = 0.76), or hospital mortality (p = 0.95). Patients with severe LVDD had longer hospital stay (p = 0.036). The grade of LVDD did not affect survival (log-rank = 0.145) nor major adverse cardiovascular events (log-rank = 0.97). Predictors of mortality were; low BMI (HR: 0.95 (0.91-0.99); p = 0.019), low sodium (0.93 (0.82-2.5); p = 0.021), previous PCI (HR: 1.6 (1.022-2.66); p = 0.04), E-peak (HR: 1.01 (1.002-1.019); p = 0.014) and implantation of more than one device (HR: 3.55 (1.22-10.31); p = 0.02). CONCLUSION: Transcatheter aortic valve replacement is feasible in patients with diastolic dysfunction, and the degree of diastolic dysfunction did not negatively affect the outcome. Long-term outcomes in those patients were affected by the preoperative clinical state and procedure-related factors.

Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.

BACKGROUND: Congenital long QT syndrome (LQTS) is an inherited, potentially fatal arrhythmogenic disorder. At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70%, with KCNQ1 mutations accounting for ∼50% of positive cases. LQTS is mostly inherited in an autosomal dominant pattern. Systemic analysis of LQTS has not been previously conducted in a population with a high degree of consanguinity. OBJECTIVES: To describe the clinical and molecular profiles of LQTS in the highly consanguineous Saudi population. METHODS: Fifty-six Saudi families with LQTS were consecutively recruited and evaluated. Sequencing of KCNQ1, KCNH2, and SCN5A genes was conducted on all probands, followed by screening of family relatives. RESULTS: Genetic analysis was positive in 32 (57.2%) families, with mutations in KCNQ1 identified in 28 families (50%). Surprisingly, 17 (53.1%) probands were segregating homozygous mutations. Family screening identified 123 individuals with mutations; 89 (72.4%) were heterozygous, 23 (18.7%) were homozygous, and 11 (8.9%) were compound heterozygous. Compared to heterozygous, the phenotype was more severe in homozygous individuals, with cardiac symptoms in 78.3% (vs 12.4%), family history of sudden death in 64.7% (vs 44.4%), and prolonged QT interval in 100% (vs 43.8%). Congenital deafness was found in 11 (47.8%) homozygous probands. CONCLUSION: Our study provides insight into the clinical and molecular profiles of LQTS in a consanguineous population. It underscores the importance of preemptive management in homozygous patients with LQTS and the value of clinical and molecular screening of at-risk relatives.