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Your search keyword '"Silberbach, G. M."' showing total 3 results
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3 results on '"Silberbach, G. M."'

1. Surgical repair of bicuspid aortopathy at small diameters: Clinical and institutional factors

Author

Alexander P. Nissen, Van Thi Thanh Truong, Bader A. Alhafez, Jyothy J. Puthumana, Anthony L. Estrera, Simon C. Body, Siddharth K. Prakash, Eduardo Bossone, Rodolfo Citro, Simon Body, J. Daniel Muehlschlegel, Jasmine T. Shahram, Thy B. Nguyen, Vicenza Stefano Nistri, Dan Gilon, Ronen Durst, Carlo de Vincentiis, Francesca R. Pluchinotta, Thoralf M. Sundt, Hector I. Michelena, Giuseppe Limongelli, Patrick M. McCarthy, S. Chris Malaisrie, Aakash Bavishi, Malenka M. Bissell, Gordon S. Huggins, Victor Dayan, Francois Dagenais, Alessandro Della Corte, Evaldas Girdsaukas, Bo Yang, Kim Eagle, Dianna M. Milewicz, Tom C. Nguyen, Harleen K. Sandhu, Hazim J. Safi, Josh C. Denny, Arturo Evangelista, Laura Galian-Gay, Kim A. Eagle, Williams Ravekes, Harry C. Dietz, Kathryn W. Holmes, Jennifer Habashi, Scott A. LeMaire, Joseph S. Coselli, Shaine A. Morris, Cheryl L. Maslen, Howard K. Song, G. Michael Silberbach, Reed E. Pyeritz, Joseph E. Bavaria, Karianna Milewski, Richard B. Devereux, Jonathan W. Weinsaft, Mary J. Roman, Ralph V. Shohet, Nazli McDonnell, Federico M. Asch, H. Eser Tolunay, Patrice Desvigne-Nickens, Hung Tseng, Barbara L. Kroner, Nissen, A. P., Truong, V. T. T., Alhafez, B. A., Puthumana, J. J., Estrera, A. L., Body, S. C., Prakash, S. K., Bossone, E., Citro, R., Body, S., Muehlschlegel, J. D., Shahram, J. T., Nguyen, T. B., Stefano Nistri, V., Gilon, D., Durst, R., de Vincentiis, C., Pluchinotta, F. R., Sundt, T. M., Michelena, H. I., Limongelli, G., Mccarthy, P. M., Malaisrie, S. C., Bavishi, A., Bissell, M. M., Huggins, G. S., Dayan, V., Dagenais, F., Corte, A. D., Girdsaukas, E., Yang, B., Eagle, K., Milewicz, D. M., Nguyen, T. C., Sandhu, H. K., Safi, H. J., Denny, J. C., Evangelista, A., Galian-Gay, L., Eagle, K. A., Ravekes, W., Dietz, H. C., Holmes, K. W., Habashi, J., Lemaire, S. A., Coselli, J. S., Morris, S. A., Maslen, C. L., Song, H. K., Silberbach, G. M., Pyeritz, R. E., Bavaria, J. E., Milewski, K., Devereux, R. B., Weinsaft, J. W., Roman, M. J., Shohet, R. V., Mcdonnell, N., Asch, F. M., Tolunay, H. E., Desvigne-Nickens, P., Tseng, H., and Kroner, B. L.

Subjects
Registrie, Male, Time Factors, thoracic aortic aneurysm, Heart Valve Diseases, Patient characteristics, ascending aortic intervention, thoracic aortic dissection, 030204 cardiovascular system & hematology, 0302 clinical medicine, Bicuspid aortic valve, Aortic valve replacement, Bicuspid Aortic Valve Disease, Risk Factors, Registries, Heart Valve Prosthesis Implantation, Middle Aged, Dissection, Heart Valve Disease, Treatment Outcome, Elective Surgical Procedures, Aortic Valve, cardiovascular system, Cardiology, Female, Cardiology and Cardiovascular Medicine, Vascular Surgical Procedures, Human, Pulmonary and Respiratory Medicine, United State, Adult, medicine.medical_specialty, bicuspid aortic valve, Time Factor, Aortic Valve Insufficiency, Clinical Decision-Making, Thoracic aortic aneurysm, Risk Assessment, 03 medical and health sciences, Internal medicine, medicine, Humans, Limited evidence, Risk factor, Aged, Surgical repair, Cross-Sectional Studie, Elective Surgical Procedure, Aortic Aneurysm, Thoracic, business.industry, Risk Factor, Patient Selection, Aortic Valve Stenosis, medicine.disease, Aortic Valve Stenosi, United States, Cross-Sectional Studies, 030228 respiratory system, Surgery, business
Abstract

Objective: Bicuspid aortic valve is a common risk factor for thoracic aortic aneurysm and dissection. Guidelines for elective ascending aortic intervention (AAI) in bicuspid aortic valve are derived from limited evidence, and the extent of practice variation due to patient and provider characteristics is unknown. Using data from 2 large cardiovascular registries, we investigated factors that influence decisions for AAI. Methods: All bicuspid aortic valve cases with known aortic diameters and surgical status were included. We used multivariable logistic regression to profile predictors of isolated aortic valve replacement (AVR) or AVR+AAI, stratified by patient characteristics, surgical indications, and institution. Results: We studied 2861 subjects at 18 institutions from 1996 to 2015. The median aortic diameter of patients who underwent AVR+AAI varied widely across institutions (39-52 mm). Aortic diameters were

Published
2019

2. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

Author

Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, and Kugler JD

Subjects
DNA Mutational Analysis, DNA Primers, Echocardiography, Electrocardiography, Female, Heart Block classification, Heart Block genetics, Heart Defects, Congenital diagnostic imaging, Heterozygote, Homeobox Protein Nkx-2.5, Humans, Male, Pedigree, Phenotype, Transcription Factors, Heart growth & development, Heart Defects, Congenital genetics, Homeodomain Proteins genetics, Mutation, Xenopus Proteins
Abstract

Heterozygous mutations in NKX2.5, a homeobox transcription factor, were reported to cause secundum atrial septal defects and result in atrioventricular (AV) conduction block during postnatal life. To further characterize the role of NKX2.5 in cardiac morphogenesis, we sought additional mutations in groups of probands with cardiac anomalies and first-degree AV block, idiopathic AV block, or tetralogy of Fallot. We identified 7 novel mutations by sequence analysis of the NKX2.5-coding region in 26 individuals. Associated phenotypes included AV block, which was the primary manifestation of cardiac disease in nearly a quarter of affected individuals, as well as atrial septal defect and ventricular septal defect. Ventricular septal defect was associated with tetralogy of Fallot or double-outlet right ventricle in 3 individuals. Ebstein's anomaly and other tricuspid valve abnormalities were also present. Mutations in human NKX2.5 cause a variety of cardiac anomalies and may account for a clinically significant portion of tetralogy of Fallot and idiopathic AV block. The coinheritance of NKX2.5 mutations with various congenital heart defects suggests that this transcription factor contributes to diverse cardiac developmental pathways.

Published
1999
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3. Congenital heart disease caused by mutations in the transcription factor NKX2-5.

Author

Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, and Seidman JG

Subjects
Amino Acid Sequence, Animals, Atrioventricular Node physiopathology, Chromosome Mapping, Chromosomes, Human, Pair 5, Codon, Female, Genes, Dominant, Genetic Linkage, Heart Block physiopathology, Heart Septal Defects, Atrial physiopathology, Homeobox Protein Nkx-2.5, Homeodomain Proteins metabolism, Humans, Male, Mice, Molecular Sequence Data, Mutation, Pedigree, Protein Biosynthesis, Transcription Factors metabolism, Heart Block genetics, Heart Septal Defects, Atrial genetics, Homeodomain Proteins genetics, Transcription Factors genetics, Xenopus Proteins
Abstract

Mutations in the gene encoding the homeobox transcription factor NKX2-5 were found to cause nonsyndromic, human congenital heart disease. A dominant disease locus associated with cardiac malformations and atrioventricular conduction abnormalities was mapped to chromosome 5q35, where NKX2-5, a Drosophila tinman homolog, is located. Three different NKX2-5 mutations were identified. Two are predicted to impair binding of NKX2-5 to target DNA, resulting in haploinsufficiency, and a third potentially augments target-DNA binding. These data indicate that NKX2-5 is important for regulation of septation during cardiac morphogenesis and for maturation and maintenance of atrioventricular node function throughout life.

Published
1998
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