Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

Autor: Femke N. G. van ’t Hof, Ynte M. Ruigrok, Cue Hyunkyu Lee, Stephan Ripke, Graig Anderson, Mariza de Andrade, Annette F. Baas, Jan D. Blankensteijn, Erwin P. Böttinger, Matthew J. Bown, Joseph Broderick, Philippe Bijlenga, David S. Carrell, Dana C. Crawford, David R. Crosslin, Christian Ebeling, Johan G. Eriksson, Myriam Fornage, Tatiana Foroud, Mikael von und zu Fraunberg, Christoph M. Friedrich, Emília I. Gaál, Omri Gottesman, Dong‐Chuan Guo, Seamus C. Harrison, Juha Hernesniemi, Albert Hofman, Ituro Inoue, Juha E. Jääskeläinen, Gregory T. Jones, Lambertus A. L. M. Kiemeney, Riku Kivisaari, Nerissa Ko, Seppo Koskinen, Michiaki Kubo, Iftikhar J. Kullo, Helena Kuivaniemi, Mitja I. Kurki, Aki Laakso, Dongbing Lai, Suzanne M. Leal, Hanna Lehto, Scott A. LeMaire, Siew‐Kee Low, Jennifer Malinowski, Catherine A. McCarty, Dianna M. Milewicz, Thomas H. Mosley, Yusuke Nakamura, Hirofumi Nakaoka, Mika Niemelä, Jennifer Pacheco, Peggy L. Peissig, Joanna Pera, Laura Rasmussen‐Torvik, Marylyn D. Ritchie, Fernando Rivadeneira, Andre M. van Rij, Regie Lyn P. Santos‐Cortez, Athanasios Saratzis, Agnieszka Slowik, Atsushi Takahashi, Gerard Tromp, André G. Uitterlinden, Shefali S. Verma, Sita H. Vermeulen, Gao T. Wang, Buhm Han, Gabriël J. E. Rinkel, Paul I. W. de Bakker, Ana Verissimo, Benjamin J. Wright, Suzannah Bumpstead, Solveig Gretarsdottir, Stephen A. Badger, Anne H. Child, Rachel E. Clough, Gillian Cockerill, Hany Hafez, D. Julian A. Scott, Simon Futers, Soroush Sohrabi, Alberto Smith, Matthew M. Thompson, Frank M. van Bockxmeer, Stefan E. Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Joep A. W. Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A. Kiemeney, Jutta Palmen, Andrew J. Smith, Jes S. Lindholt, Declan T. Bradley, Matthew Waltham, Sarah Edkins, Rhian Gwilliam, Sarah E. Hunt, Simon Potter, Jonathan Golledge, Per Eriksson, Paul E. Norman, Janet T. Powell, Kari Stefansson, John R. Thompson, Steve E. Humphries, Robert D. Sayers, Panos Deloukas, Nilesh J. Samani, L. Victoria Phillip, Geraldine B. Hill, Michael J. A. Williams, Ian A. Thomson, Jo Krysa, Gerard T. Wilkins, Tony R. Merriman, Thodor M. Vasudevan, David R. Lewis, Ross D. Blair, Andrew A. Hill

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 5, Iss 7 (2016)

BackgroundIntracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co‐occur, we hypothesized that there may be shared genetic ri

Externí odkaz: https://doaj.org/article/2acb672bf4a74a25b54ac4cd784f7c16

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

Autor: M. Elizabeth Brickner, Reed E. Pyeritz, Kathryn C. Chatfield, Dianna M. Milewicz, Anthony L. Estrera, Ellen S. Regalado, Hiroko Morisaki, Patricia L. Musolino, Lauren Mellor-Crummey, Susan L. Benedict, Mustafa Tekin, Denver Sallee, Kathryn W. Holmes, Timothy J. Bradley, Cori Feist, Glen J. Iannucci, Julie Richer, Sherene Shalhub, John R. Østergaard, Lesley C. Adès, Anne H. Child, Paul R. Mark, Shaine A. Morris, Anna L. Mitchell, Birgit Lorenz, Julie De Backer, Takayuki Morisaki, Anji T. Yetman, Alan C. Braverman

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Regalado, E S, Mellor-Crummey, L, De Backer, J, Braverman, A C, Ades, L, Benedict, S, Bradley, T J, Brickner, M E, Chatfield, K C, Child, A, Feist, C, Holmes, K W, Iannucci, G, Lorenz, B, Mark, P, Morisaki, T, Morisaki, H, Morris, S A, Mitchell, A L, Ostergaard, J R, Richer, J, Sallee, D, Shalhub, S, Tekin, M, Estrera, A, Musolino, P, Yetman, A, Pyeritz, R, Milewicz, D M & Montalcino Aortic Consortium 2018, ' Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations ', Genetics in Medicine, vol. 20, no. 10, pp. 1206-1215 . https://doi.org/10.1038/gim.2017.245

Purpose: Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complication

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8781f25dd24c3cd5595fe15cb4a2f568
http://europepmc.org/articles/PMC6034999

The role of advanced echocardiography and cardiovascular magnetic resonance in the assessment of myocardial function in Marfan syndrome-An update

Autor: James Moggridge, Peter Rask, Anne H. Child, Anatoli Kiotsekoglou

Publikováno v: Echocardiography. 34:760-767

Cardiovascular assessment of patients with Marfan syndrome has normally focused on the aortic root and vascular manifestations of the disease due to the high risk of aortic dissection. Although primary myocardial impairment has long been suspected in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a99a989584fbb832217e321b41e44e8
https://doi.org/10.1111/echo.13517

Aortic Root Surgery: Does High Surgical Volume and a Consistent Perioperative Approach Improve Outcome?

Autor: Gopal Soppa, Pouya Youssefi, Mark Edsell, Rajan Sharma, Jean-Pierre van Besouw, Rajdeep Bilkhu, Anne H. Child, Marjan Jahangiri

Publikováno v: Seminars in Thoracic and Cardiovascular Surgery. 28:302-309

There is evidence that high surgical volume and team consistency improve outcomes. Mortality of 4%-12% for aortic root surgery has been reported in the United States and UK. We aim to assess outcomes of patients undergoing aortic root surgery by a co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61786d0049af8e16724fbfae66032a09
https://doi.org/10.1053/j.semtcvs.2016.04.016

A mutation in theLMOD1actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

Autor: Yui Bong Alexander Wan, Yukiko Isekame, Jose Antonio Aragon-Martin, Daniel P. S. Osborn, Louise Benarroch, Maria Teresa Tome Esteban, Jaipreet Bharj, Guilleame Jondeau, Marjan Jahangiri, Anand Saggar, James Sneddon, Dongchuan Guo, Catherine Boileau, Elizabeth M. C. Fisher, Ellen S. Regalado, Alberto Smith, John Dean, Anne H. Child, Michael A. Simpson, Elijah R. Behr, Dianna M. Milewicz

We describe a mutation inLMOD1, which predisposes individuals to thoracic aortic aneurysms and dissections in a large multi-generation British family. Exome variant profiles for the proband and two distantly related affected relatives were generated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37dff8c55cc63a1a46abf702f98e61b7
https://doi.org/10.1101/153452