Browsing by Subject "aortic stenosis"
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Item Open Access Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.(Journal of the American Heart Association, 2021-01-12) Parker, Lauren E; Landstrom, Andrew PCongenital heart disease is the most common congenital defect observed in newborns. Within the spectrum of congenital heart disease are left-sided obstructive lesions (LSOLs), which include hypoplastic left heart syndrome, aortic stenosis, bicuspid aortic valve, coarctation of the aorta, and interrupted aortic arch. These defects can arise in isolation or as a component of a defined syndrome; however, nonsyndromic defects are often observed in multiple family members and associated with high sibling recurrence risk. This clear evidence for a heritable basis has driven a lengthy search for disease-causing variants that has uncovered both rare and common variants in genes that, when perturbed in cardiac development, can result in LSOLs. Despite advancements in genetic sequencing platforms and broadening use of exome sequencing, the currently accepted LSOL-associated genes explain only 10% to 20% of patients. Further, the combinatorial effects of common and rare variants as a cause of LSOLs are emerging. In this review, we highlight the genes and variants associated with the different LSOLs and discuss the strengths and weaknesses of the present genetic associations. Furthermore, we discuss the research avenues needed to bridge the gaps in our current understanding of the genetic basis of nonsyndromic congenital heart disease.Item Open Access Grading Aortic Stenosis With Mean Gradient and Aortic Valve Area: A Comparison Between Preoperative Transthoracic and Precardiopulmonary Bypass Transesophageal Echocardiography.(J Cardiothorac Vasc Anesth, 2016-10) Whitener, George; Sivak, Joseph; Akushevich, Igor; Samad, Zainab; Swaminathan, MadhavOBJECTIVE: The authors hypothesized that average precardiopulmonary bypass (pre-CPB) transesophageal echocardiographic (TEE) mean gradient (PGm) and aortic valve area (AVA) values would be significantly different from preoperative transthoracic (TTE) values in the same patients and that these changes would affect pre-CPB TEE grading of aortic stenosis (AS). DESIGN: Retrospective, observational design. SETTING: Single university hospital. PARTICIPANTS: The study comprised 92 patients who underwent aortic valve replacement with or without coronary artery bypass grafting between 2000 and 2012 at Duke University Hospital and who had PGm and AVA values recorded in both pre-CPB TEE and preoperative TTE reporting databases. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: PGm with pre-CPB TEE was lower by 6.6 mmHg (95% confidence interval, -4.0 to -9.3 mmHg; p<0.001), whereas AVA was higher by 0.10 cm(2) (95% confidence interval, 0.04 to 0.15 cm(2); p<0.001), compared with preoperative TTE values. When using PGm, pre-CPB TEE generated an AS severity 1 grade lower 39.1% of the time and revealed no difference 55.4% of the time compared to preoperative TTE. When using AVA by continuity, pre-CPB TEE generated an AS severity 1 grade lower 14.1% of the time and revealed no difference 81.5% of the time compared to preoperative TTE. When using either PGm or AVA, preoperative TTE exhibited moderate or severe AS for all study patients, whereas, pre-CPB TEE demonstrated mild AS in 5.4% (n = 92) of patients. CONCLUSIONS: The authors confirmed their hypothesis that pre-CPB TEE generates different PGm and AVA values compared with preoperative TTE. These differences often underestimate AS severity. Hemodynamic standardizations or adjustments of pre-CPB TEE PGm and AVA values may be necessary in anesthetized patients before assigning an AS grade using these parameters.Item Open Access Prevalence and Outcomes of Left-Sided Valvular Heart Disease Associated With Chronic Kidney Disease.(J Am Heart Assoc, 2017-10-11) Samad, Zainab; Sivak, Joseph A; Phelan, Matthew; Schulte, Phillip J; Patel, Uptal; Velazquez, Eric JBACKGROUND: Chronic kidney disease (CKD) is an adverse prognostic marker for valve intervention patients; however, the prevalence and related outcomes of valvular heart disease in CKD patients is unknown. METHODS AND RESULTS: Included patients underwent echocardiography (1999-2013), had serum creatinine values within 6 months before index echocardiogram, and had no history of valve surgery. CKD was defined as diagnosis based on the International Classification of Diseases, Ninth Revision or an estimated glomerular filtration rate <60 mL/min per 1.73 m2. Qualitative assessment determined left heart stenotic and regurgitant valve lesions. Cox models assessed CKD and aortic stenosis (AS) interaction for subsequent mortality; analyses were repeated for mitral regurgitation (MR). Among 78 059 patients, 23 727 (30%) had CKD; of these, 1326 were on hemodialysis. CKD patients were older; female; had a higher prevalence of hypertension, hyperlipidemia, diabetes, history of coronary artery bypass grafting/percutaneous coronary intervention, atrial fibrillation, and heart failure ≥mild AS; and ≥mild MR (all P<0.001). Five-year survival estimates of mild, moderate, and severe AS for CKD patients were 40%, 34%, and 42%, respectively, and 69%, 54%, and 67% for non-CKD patients. Five-year survival estimates of mild, moderate, and severe MR for CKD patients were 51%, 38%, and 37%, respectively, and 75%, 66%, and 65% for non-CKD patients. Significant interaction occurred among CKD, AS/MR severity, and mortality in adjusted analyses; the CKD hazard ratio increased from 1.8 (non-AS patients) to 2.0 (severe AS) and from 1.7 (non-MR patients) to 2.6 (severe MR). CONCLUSIONS: Prevalence of at least mild AS and MR is substantially higher and is associated with significantly lower survival among patients with versus without CKD. There is significant interaction among CKD, AS/MR severity, and mortality, with increasingly worse outcomes for CKD patients with increasing AS/MR severity.Item Open Access Racial and Ethnic Differences in Treatment and Outcomes of Severe Aortic Stenosis: A Review.(JACC. Cardiovascular interventions, 2020-01) Wilson, Jimica B; Jackson, Larry R; Ugowe, Francis E; Jones, Terrell; Yankey, George SA; Marts, Colin; Thomas, Kevin LAortic stenosis (AS) is among the most common valvular heart diseases encountered in the United States. In this review the authors examine differences between racial and ethnic groups in the epidemiology and management of severe AS, explore potential explanations for these findings, and discuss the implications for improving the delivery of care to racially and ethnically diverse populations. Underrepresented racial and ethnic groups experience a paradoxically lower prevalence or incidence of AS relative to white subjects, despite having a higher prevalence of traditional risk factors. Historically, UREGs with severe AS have had lower rates of both surgical and transcatheter aortic valve replacement and experienced more post-surgical complications, including, bleeding, worsening heart failure, and rehospitalization. Last, UREGs with severe AS have an increased risk for morbidity and mortality relative to white patients. To date much of the research on AS has examined black-white differences, so there is a need to understand how other racial and ethnic groups with severe AS are diagnosed and treated, with examination of their resulting outcomes. Overall, racial and ethnic disparities in health care access and care delivery are a public health concern given the changing demographics of the U.S. population. These differences in AS management and outcomes highlight the need for additional research into contributing factors and appropriate interventions to address the lower rates of aortic valve replacement and higher morbidity and mortality among UREGs.