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6 results on '"Milewicz, D"'

1. Differentiation defect in neural crest-derived smooth muscle cells in patients with aortopathy associated with bicuspid aortic valves.

Author

Jiao J, Xiong W, Wang L, Yang J, Qiu P, Hirai H, Shao L, Milewicz D, Chen YE, and Yang B

Subjects
Aortic Diseases etiology, Aortic Diseases metabolism, Aortic Valve metabolism, Aortic Valve pathology, Bicuspid Aortic Valve Disease, Biomarkers, Cell Culture Techniques, Heart Valve Diseases complications, Heart Valve Diseases metabolism, Humans, Immunophenotyping, Induced Pluripotent Stem Cells cytology, Induced Pluripotent Stem Cells metabolism, Muscle Contraction, Myocytes, Smooth Muscle metabolism, Myosin Heavy Chains metabolism, Phenotype, Signal Transduction, TOR Serine-Threonine Kinases metabolism, Transforming Growth Factor beta metabolism, Aortic Diseases pathology, Aortic Valve abnormalities, Cell Differentiation, Heart Valve Diseases pathology, Myocytes, Smooth Muscle cytology, Neural Crest cytology
Abstract

Individuals with bicuspid aortic valves (BAV) are at a higher risk of developing thoracic aortic aneurysms (TAA) than patients with trileaflet aortic valves (TAV). The aneurysms associated with BAV most commonly involve the ascending aorta and spare the descending aorta. Smooth muscle cells (SMCs) in the ascending and descending aorta arise from neural crest (NC) and paraxial mesoderm (PM), respectively. We hypothesized defective differentiation of the neural crest stem cells (NCSCs)-derived SMCs but not paraxial mesoderm cells (PMCs)-derived SMCs contributes to the aortopathy associated with BAV. When induced pluripotent stem cells (iPSCs) from BAV/TAA patients were differentiated into NCSC-derived SMCs, these cells demonstrated significantly decreased expression of marker of SMC differentiation (MYH11) and impaired contraction compared to normal control. In contrast, the PMC-derived SMCs were similar to control cells in these aspects. The NCSC-SMCs from the BAV/TAA also showed decreased TGF-β signaling based on phosphorylation of SMAD2, and increased mTOR signaling. Inhibition of mTOR pathway using rapamycin rescued the aberrant differentiation. Our data demonstrates that decreased differentiation and contraction of patient's NCSC-derived SMCs may contribute to that aortopathy associated with BAV., (Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.)

Published
2016
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2. Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections.

Author

Prakash S, Kuang SQ, Regalado E, Guo D, and Milewicz D

Subjects
Adolescent, Adult, Aorta pathology, Bicuspid Aortic Valve Disease, Female, Genomics, Genotype, Humans, Male, Marfan Syndrome genetics, Young Adult, Aortic Dissection genetics, Aortic Aneurysm, Thoracic genetics, Aortic Valve abnormalities, DNA Copy Number Variations genetics, Genetic Predisposition to Disease genetics, Heart Valve Diseases genetics
Abstract

Thoracic Aortic Aneurysms and Dissections (TAAD) are a major cause of death in the United States. The spectrum of TAAD ranges from genetic disorders, such as Marfan syndrome, to sporadic isolated disease of unknown cause. We hypothesized that genomic copy number variants (CNVs) contribute causally to early onset TAAD (ETAAD). We conducted a genome-wide SNP array analysis of ETAAD patients of European descent who were enrolled in the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Genotyping was performed on the Illumina Omni-Express platform, using PennCNV, Nexus and CNVPartition for CNV detection. ETAAD patients (n = 108, 100% European American, 28% female, average age 20 years, 55% with bicuspid aortic valves) were compared to 7013 dbGAP controls without a history of vascular disease using downsampled Omni 2.5 data. For comparison, 805 sporadic TAAD patients with late onset aortic disease (STAAD cohort) and 192 affected probands from families with at least two affected relatives (FTAAD cohort) from our institution were screened for additional CNVs at these loci with SNP arrays. We identified 47 recurrent CNV regions in the ETAAD, FTAAD and STAAD groups that were absent or extremely rare in controls. Nine rare CNVs that were either very large (>1 Mb) or shared by ETAAD and STAAD or FTAAD patients were also identified. Four rare CNVs involved genes that cause arterial aneurysms when mutated. The largest and most prevalent of the recurrent CNVs were at Xq28 (two duplications and two deletions) and 17q25.1 (three duplications). The percentage of individuals harboring rare CNVs was significantly greater in the ETAAD cohort (32%) than in the FTAAD (23%) or STAAD (17%) cohorts. We identified multiple loci affected by rare CNVs in one-third of ETAAD patients, confirming the genetic heterogeneity of TAAD. Alterations of candidate genes at these loci may contribute to the pathogenesis of TAAD.

Published
2016
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3. International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes

Author

Michelena, H.I., Corte, A. della, Evangelista, A., Maleszewski, J.J., Edwards, W.D., Roman, M.J., Devereux, R.B., Fernandez, B., Asch, F.M., Barker, A.J., Sierra-Galan, L.M., Kerchove, L. de, Fernandes, S.M., Fedak, P.W.M., Girdauskas, E., Delgado, V., Abbara, S., Lansac, E., Prakash, S.K., Bissell, M.M., Popescu, B.A., Hope, M.D., Sitges, M., Thourani, V.H., Pibarot, P., Chandrasekaran, K., Lancellotti, P., Borger, M.A., Forrest, J.K., Webb, J., Milewicz, D.M., Makkar, R., Leon, M.B., Sanders, S.P., Markl, M., Ferrari, V.A., Roberts, W.C., Song, J.K., Blanke, P., White, C.S., Siu, S., Svensson, L.G., Braverman, A.C., Bavaria, J., Sundt, T.M., Khoury, G. el, Paulis, R. de, Enriquez-Sarano, M., Bax, J.J., Otto, C.M., Schafers, H.J., Endorsed Heart Valve Soc HVS, European Assoc Cardiovasc Imaging, Soc Thoracic Surg STS, Amer Assoc Thoracic Surg AATS, Soc Cardiovasc Magnetic Resonance, Soc Cardiovasc Computed Tomography, North Amer Soc Cardiovasc Imaging, Int Bicuspid Aortic Valve Consorti, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - (SLuc) Service de chirurgie cardiovasculaire et thoracique, Michelena, H. I., Della Corte, A., Evangelista, A., Maleszewski, J. J., Edwards, W. D., Roman, M. J., Devereux, R. B., Fernandez, B., Asch, F. M., Barker, A. J., Sierra-Galan, L. M., De Kerchove, L., Fernandes, S. M., Fedak, P. W. M., Girdauskas, E., Delgado, V., Abbara, S., Lansac, E., Prakash, S. K., Bissell, M. M., Popescu, B. A., Hope, M. D., Sitges, M., Thourani, V. H., Pibarot, P., Chandrasekaran, K., Lancellotti, P., Borger, M. A., Forrest, J. K., Webb, J., Milewicz, D. M., Makkar, R., Leon, M. B., Sanders, S. P., Markl, M., Ferrari, V. A., Roberts, W. C., Song, J. -K., Blanke, P., White, C. S., Siu, S., Svensson, L. G., Braverman, A. C., Bavaria, J., Sundt, T. M., El Khoury, G., De Paulis, R., Enriquez-Sarano, M., Bax, J. J., Otto, C. M., Schafers, H. -J., Michelena, Hector I, Corte, Alessandro Della, Evangelista, Arturo, Maleszewski, Joseph J, Edwards, William D, Roman, Mary J, Devereux, Richard B, Fernández, Borja, Asch, Federico M, Barker, Alex J, Sierra-Galan, Lilia M, De Kerchove, Laurent, Fernandes, Susan M, Fedak, Paul W M, Girdauskas, Evalda, Delgado, Victoria, Abbara, Suhny, Lansac, Emmanuel, Prakash, Siddharth K, Bissell, Malenka M, Popescu, Bogdan A, Hope, Michael D, Sitges, Marta, Thourani, Vinod H, Pibarot, Phillippe, Chandrasekaran, Krishnaswamy, Lancellotti, Patrizio, Borger, Michael A, Forrest, John K, Webb, John, Milewicz, Dianna M, Makkaar, Raj, Leon, Martin B, Sanders, Stephen P, Markl, Michael, Ferrari, Victor A, Roberts, William C, Song, Jae-Kwan, Blanke, Philipp, White, Charles S, Siu, Samuel, Svensson, Lars G, Braverman, Alan C, Bavaria, Joseph, Sundt, Thoralf M, El Khoury, Gebrine, De Paulis, Ruggero, Enriquez-Sarano, Maurice, Bax, Jeroen J, Otto, Catherine M, and Schäfers, Hans-Joachim

Subjects
Statement (logic), Predictive Value of Test, Computed tomography, 030204 cardiovascular system & hematology, Congenital Aortic Valve Insufficiency, 0302 clinical medicine, Bicuspid aortic valve, Bicuspid Aortic Valve Disease, 030212 general & internal medicine, Nomenclature, Aorta, medicine.diagnostic_test, General Medicine, Anatomy, Prognosis, Classification, Phenotype, Aortic Valve, cardiovascular system, Cardiology and Cardiovascular Medicine, Key Words, Human, Pulmonary and Respiratory Medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Consensus, Prognosi, education, Aortic Diseases, Consensu, Aortography, 03 medical and health sciences, Bicuspid valve, Predictive Value of Tests, Terminology as Topic, Aortopathy, medicine, Humans, Radiology, Nuclear Medicine and imaging, cardiovascular diseases, Special Report, Cardiac Imaging Technique, business.industry, General surgery, Systematized Nomenclature of Medicine, Forme fruste, nomencla-ture, Aortic Valve Stenosis, Aortic Disease, medicine.disease, Aortic Valve Stenosi, Cardiac Imaging Techniques, Cusp (anatomy), Surgery, business
Abstract

This International Consensus Classification and Nomenclature for the congenital bicuspid aortic valve condition recognizes 3 types of bicuspid valves: 1. The fused type (right-left cusp fusion, right-non-coronary cusp fusion and left-non-coronary cusp fusion phenotypes); 2. The 2-sinus type (latero-lateral and antero-posterior phenotypes); and 3. The partial-fusion (forme fruste) type. The presence of raphe and the symmetry of the fused type phenotypes are critical aspects to describe. The International Consensus also recognizes 3 types of bicuspid valve-associated aortopathy: 1. The ascending phenotype; 2. The root phenotype; and 3. Extended phenotypes. © 2021 Jointly between the RSNA, the European Association for Cardio-Thoracic Surgery, The Society of Thoracic Surgeons, and the American Association for Thoracic Surgery. The articles are identical except for minor stylistic and spelling differences in keeping with each journal's style. All rights reserved. Keywords: Bicuspid Aortic Valve, Aortopathy, Nomenclature, Classification.

Published
2021

4. 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

5. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: Insights from the international BAVCon (bicuspid aortic valve consortium)

Author

Siddharth K, Prakash, Yohan, Bossé, Jochen D, Muehlschlegel, Hector I, Michelena, Giuseppe, Limongelli, Alessandro, Della Corte, Francesca R, Pluchinotta, Maria Giovanna, Russo, Artur, Evangelista, D Woodrow, Benson, Simon C, Body, Dianna M, Milewicz, Prakash, S. K., Bossé, Y, Muehlschlegel, J. D., Michelena, H. I., Limongelli, Giuseppe, DELLA CORTE, Alessandro, Pluchinotta, F. R., Russo, Maria Giovanna, Evangelista, A, Benson, D. W., Body, S. C., and Milewicz, D. M.

Subjects
Biomedical Research, Bicuspid Aortic Valve Disease, bicuspid, Aortic Valve, Mutation, Heart Valve Diseases, Animals, Humans, consortium, roadmap, valve, Genetic Association Studies, Article
Abstract

Bicuspid aortic valve (BAV) is the most common adult congenital heart defect and is found in 0.5% to 2.0% of the general population. The term "BAV" refers to a heterogeneous group of disorders characterized by diverse aortic valve malformations with associated aortopathy, congenital heart defects, and genetic syndromes. Even after decades of investigation, the genetic determinants of BAV and its complications remain largely undefined. Just as BAV phenotypes are highly variable, the genetic etiologies of BAV are equally diverse and vary from complex inheritance in families to sporadic cases without any evidence of inheritance. In this paper, the authors discuss current concepts in BAV genetics and propose a roadmap for unraveling unanswered questions about BAV through the integrated analysis of genetic and clinical data. © 2014 by the American College of Cardiology Foundation.

Published
2014

6. Bicuspid aortic valve identifying knowledge gaps and rising to the challenge from the international bicuspid aortic valve consortium (BAVCON)

Author

Yohan Bossé, Nandan S. Anavekar, Siddharth K. Prakash, Maurice Enriquez-Sarano, Hector I. Michelena, Alessandro Della Corte, Eric M. Isselbacher, Malenka M. Bissell, Simon C. Body, Dianna M. Milewicz, Eduardo Bossone, Giuseppe Limongelli, Thoralf M. Sundt, D. Woodrow Benson, Artur Evangelista, Patrizio Lancellotti, Patrick Mathieu, Philippe Pibarot, Michelena, H. I., Prakash, S. K., Corte, A. D., Bissell, M. M., Anavekar, N., Mathieu, P., Bosse, Y., Limongelli, G., Bossone, E., Benson, D. W., Lancellotti, P., Isselbacher, E. M., Enriquez-Sarano, M., Sundt III, T. M., Pibarot, P., Evangelista, A., Milewicz, D. M., Body, S. C., Michelena, Hi, Prakash, Sk, Della Corte, A, Bissell, Mm, Anavekar, N, Mathieu, P, Bosse, Y, Limongelli, G, Bossone, E, Benson, Dw, Lancellotti, P, Isselbacher, Em, Enriquez-Sarano, M, Sundt, Tm, Pibarot, P, Evangelista, A, Milewicz, Dm, and Body, Sc

Subjects
Aortic valve, Diagnostic Imaging, medicine.medical_specialty, Health Knowledge, Attitudes, Practice, Heart Valve Diseases, Article, Bicuspid aortic valve, Bicuspid Aortic Valve Disease, Physiology (medical), Internal medicine, Medicine, Cardiac Surgical Procedure, Humans, Cardiac Surgical Procedures, High prevalence, business.industry, aortic valve stenosi, medicine.disease, heart defects, congenital, aortic aneurysm, thoracic, Stenosis, Heart Valve Disease, Clinical research, medicine.anatomical_structure, Aortic valve stenosis, Heart failure, Aortic Valve, Cardiology, aortic valve, bicuspid, Presentation (obstetrics), Cardiology and Cardiovascular Medicine, business
Abstract

> Everything should be kept as simple as possible, but no simpler. > > —Albert Einstein1 Since its estimated first description >500 years ago by Leonardo da Vinci,2 the bicuspid aortic valve (BAV) has progressively built a reputation; initially, as a curious valvular phenotype with a tendency to develop obstruction and insufficiency. In more contemporary times, however, the BAV is recognized as underlying almost 50% of isolated severe aortic stenosis cases requiring surgery,3 and has been extensively associated with ominous outcomes such as bacterial endocarditis and aortic dissection.4 These associations, coupled with the high prevalence of BAV in humans,5 have prompted investigative efforts into the condition, which although insightful, have generated more questions than answers. This review describes our current knowledge of BAV, but, more importantly, it highlights knowledge gaps and areas where basic and clinical research is warranted. Our review has 2 sections. The first section outlines the multifaceted challenge of BAV, our current understanding of the condition, and barriers that may hamper the advancement of the science. The second section proposes a roadmap to discovery based on current imaging, molecular biology, and genetic tools, recognizing their advantages and limitations. ### A Condition Characterized by Variable Clinical Presentation The clinical presentation and consequences of BAV in humans are exceedingly heterogeneous, with few clinical or molecular markers to predict associated complications.4,6 BAV can be diagnosed at any stage during a lifetime, from newborns7 to the elderly,8 and in the setting of variable clinical circumstances. Some are benign circumstances such as auscultatory abnormalities or incidental echocardiographic findings in otherwise healthy patients8; other circumstances are morbid, such as early severe aortic valve dysfunction, premature congestive heart failure, and thoracic aortic aneurysms (TAAs).8,9 Life-threatening circumstances include bacterial endocarditis and acute aortic dissection.8–11 These complications may present …

Published
2014

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