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1. Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke

Author

Traylor, M, Zhang, Cr, Adib Samii, P, Devan, Wj, Parsons, Oe, Lanfranconi, S, Gregory, S, Cloonan, L, Falcone, Gj, Radmanesh, F, Fitzpatrick, K, Kanakis, A, Barrick, Tr, Moynihan, B, Lewis, Cm, Boncoraglio, Gb, Lemmens, R, Thijs, V, Sudlow, C, Wardlaw, J, Rothwell, Pm, Meschia, Jf, Worrall, Bb, Levi, C, Bevan, S, Furie, Kl, Dichgans, M, Rosand, J, Markus, Hs, Rost, N, Smoller, S, Sorkin, J, Wang, X, Selim, M, Pikula, A, Wolf, P, Debette, S, Seshadri, S, de Bakker, P, Chasman, D, Rexrode, K, Chen, I, Rotter, J, Luke, M, Sale, M, Lee, Th, Chang, Kc, Elkind, M, Goldstein, L, James, Ml, Breteler, M, O'Donnell, C, Leys, D, Carty, C, Kidwell, C, Olesen, J, Sharma, P, Rich, S, Tatlisumak, T, Happola, O, Bijlenga, P, Soriano, C, Giralt, E, Roquer, J, Jimenez Conde, J, Cotlarcius, I, Hardy, J, Korostynski, M, Boncoraglio, G, Ballabio, E, Parati, E, Mateusz, A, Urbanik, A, Dziedzic, T, Jagiella, J, Gasowski, J, Wnuk, M, Olszanecki, R, Pera, J, Slowik, A, Juchniewicz, Kj, Nyquist, P, Cendes, I, Cabral, N, Franca, P, Goncalves, A, Keller, L, Crisby, M, Kostulas, K, Ahmadi, K, Opherk, C, Duering, M, Malik, R, Gonik, M, Staals, J, Melander, O, Burri, P, Sadr Nabavi, A, Romero, J, Biffi, A, Anderson, C, Falcone, G, Brouwers, B, Du, R, Kourkoulis, C, Battey, T, Lubitz, S, Mueller Myhsok, B, Meschia, J, Brott, T, Pare, G, Pichler, A, Enzinger, C, Schmidt, H, Schmidt, R, Seiler, S, Blanton, S, Yamada, Y, Bersano, A, Rundek, T, Sacco, R, Yvonne Chan, Yf, Gschwendtner, A, Deng, Z, Barr, T, Gwinn, K, Corriveau, R, Singleton, A, Waddy, S, Launer, L, Chen, C, Ke, Le, Lee, Wl, Tan, Ek, Olugbodi, A, Rothwell, P, Schilling, S, Mok, V, Lebedeva, E, Jern, C, Jood, K, Olsson, S, Kim, H, Lee, C, Kilarski, L, Markus, H, Peycke, J, Sheu, W, Chiou, Hy, Chern, J, Giraldo, E, Taqi, M, Jain, V, Lam, O, Howard, G, Woo, D, Kittner, S, Mitchell, B, Cole, J, O'Connell, J, Milewicz, D, Illoh, K, Worrall, B, Stine, C, Karaszewski, B, Werring, D, Sofat, R, Smalley, J, Lindgren, A, Hansen, B, Norrving, B, Smith, G, Martín, Jj, Klijn, K, Van't Hof, F, Algra, A, Macleod, M, Perry, R, Arnett, D, Pezzini, Alessandro, Padovani, Alessandro, Cramer, S, Fisher, M, Saleheen, D, Broderick, J, Kissela, B, Doney, A, Rannikmae, K, Silliman, S, Mcdonough, C, Walters, M, Pedersen, A, Nakagawa, K, Chang, C, Dobbins, M, Mcardle, P, Chang, Yc, Brown, R, Brown, D, Holliday, E, Kalaria, R, Maguire, J, Attia, J, Farrall, M, Giese, Ak, Fornage, M, Majersik, J, Cushman, M, Keene, K, Bennett, S, Tirschwell, D, Psaty, B, Reiner, A, Longstreth, W, Spence, D, Montaner, J, Fernandez Cadenas, I, Langefeld, C, Bushnell, C, Heitsch, L, Lee, Jm, and Sheth, K.

Subjects
Cerebral Small Vessel Diseases, Genetic Predisposition to Disease, Genetic Testing, Humans, Polymorphism, Single Nucleotide, Risk Factors, Stroke, White Matter, Genome-Wide Association Study, Neurology (clinical), Single Nucleotide, C420 Human Genetics, Article, C431 Medical Genetics, C400 Genetics, Polymorphism, C440 Molecular Genetics
Abstract

Objective: For 3,670 stroke patients from the United Kingdom, United States, Australia, Belgium, and Italy, we performed a genome-wide meta-analysis of white matter hyperintensity volumes (WMHV) on data imputed to the 1000 Genomes reference dataset to provide insights into disease mechanisms. Methods: We first sought to identify genetic associations with white matter hyperintensities in a stroke population, and then examined whether genetic loci previously linked to WMHV in community populations are also associated in stroke patients. Having established that genetic associations are shared between the 2 populations, we performed a meta-analysis testing which associations with WMHV in stroke-free populations are associated overall when combined with stroke populations. Results: There were no associations at genome-wide significance with WMHV in stroke patients. All previously reported genome-wide significant associations with WMHV in community populations shared direction of effect in stroke patients. In a meta-analysis of the genome-wide significant and suggestive loci (p Conclusions: Genetic associations with WMHV are shared in otherwise healthy individuals and patients with stroke, indicating common genetic susceptibility in cerebral small vessel disease.

Published
2016
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2. 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

3. 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

4. Chronobiology of Acute Aortic Dissection in the Marfan Syndrome (from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions and the International Registry of Acute Aortic Dissection)

Author

Dan Montgomery, Arturo Evangelista, Michael Silberbach, Harry C. Dietz, Scott A. LeMaire, Dianna M. Milewicz, Roberto Manfredini, Eduardo Bossone, Udo Sechtem, Hasan K. Siddiqi, Eric M. Isselbacher, Kim A. Eagle, Reed E. Pyeritz, Steven N. Luminais, Christoph A. Nienaber, Mary J. Roman, Siddiqi, Hk, Luminais, Sn, Montgomery, D, Bossone, E, Dietz, H, Evangelista, A, Isselbacher, E, Lemaire, S, Manfredini, R, Milewicz, D, Nienaber, Ca, Roman, M, Sechtem, U, Silberbach, M, Eagle, Ka, and Pyeritz, Re

Subjects
musculoskeletal diseases, Marfan syndrome, circadian rhythm, Adult, Male, medicine.medical_specialty, Population, Socio-culturale, 030204 cardiovascular system & hematology, Marfan Syndrome, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Prospective Studies, Registries, education, Aortic dissection, Chronobiology Phenomena, Chronobiology, education.field_of_study, Aortic Aneurysm, Thoracic, business.industry, Subject Age, Irad, Middle Aged, medicine.disease, Connective tissue disease, Aortic Dissection, Cardiology, aneurysm, chronobiology, circadian rhythm, season, aneurysm, Marfan syndrome, Female, National registry, Seasons, Cardiology and Cardiovascular Medicine, business, chronobiology, season
Abstract

Marfan syndrome (MFS) is an autosomal dominant connective tissue disease associated with acute aortic dissection (AAD). We used 2 large registries that include patients with MFS to investigate possible trends in the chronobiology of AAD in MFS. We queried the International Registry of Acute Aortic Dissection (IRAD) and the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) registry to extract data on all patients with MFS who had suffered an AAD. The group included 257 patients with MFS who suffered an AAD from 1980 to 2012. The chi-square tests were used for statistical testing. Mean subject age at time of AAD was 38 years, and 61% of subjects were men. AAD was more likely in the winter/spring season (November to April) than the other half of the year (57% vs 43%, p = 0.05). Dissections were significantly more likely to occur during the daytime hours, with 65% of dissections occurring from 6 a.m. to 6 p.m. (p = 0.001). Men were more likely to dissect during the daytime hours (6 a.m. to 6 p.m.) than women (74% vs 51%, p = 0.01). These insights offer a glimpse of the times of greatest vulnerability for patients with MFS who suffer from this catastrophic event. In conclusion, the chronobiology of AAD in MFS reflects that of AAD in the general population.

Published
2016

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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