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Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility
Authors :
Mehta, Puja Holder, Susan Fisher, Benjamin Vincent, Tonia Nadesalingam, Kavitha Maciver, Helen Shingler, Wendy Bakshi, Jyoti Hassan, Sadon D'Cruz, David Chan, Antoni Litwic, Anna E. McCrae, Fiona Seth, Rakhi Nandagudi, Anupama Jury, Elizabeth Isenberg, David Karjigi, Uma Paul, Anupam Rees, Frances O'Dowd, Emma Kinnear, William Johnson, Simon Lanyon, Peter Stevens, Richard Narayan, Nehal Marguerie, Christopher Robinson, Helena Ffolkes, Lorrette Worsnop, Fiona Ostlere, Lucy Kiely, Patrick Dharmapalaiah, Chethana Hassan, Nada Bharadwaj, Anurag Skibinska, Malgorzata Gendi, Nagui Davies, Emma J. Akil, Mohammed Kilding, Rachael Ramachandran Nair, Jagdish Walsh, Maeve Farrar, Wendy Thompson, Robert N. Borukhson, Liubov McFadyen, Charles Singh, Deepwant Rajagopal, Vivek Chan, Angela Marie L. Wearn Koh, Li Christie, Jennifer D. Croot, Lorraine Gayed, Mary Disney, Benjamin Singhal, Saket Grindulis, Karl Reynolds, Timothy D. Conway, Katie Williams, Debbie Quin, John Dean, Gillian Churchill, Duncan Walker-Bone, Karen E. Goff, Iain Reynolds, Gary Grove, Matthew Patel, Priya Lazarus, Mark N. Roncaroli, Frederico Gabriel, Carolyn Kinderlerer, Anne R. Nikiphorou, Elena Hall, Frances C. Bruce, Ellen Gray, Leanne Krutikov, Maria Wig, Surabhi Bruce, Ian D'Agostino, Maria A. Wakefield, Richard Berner Hammer, Hilde Vittecoq, Olivier Galeazzi, Mauro Balint, Peter Filippucci, Emilio Moller, Ingrid Iagnocco, Annamaria Naredo, Esperanza Ostergaard, Mikkel Gaillez, Corine Kerselaers, Wendy Van Holder, Karina Le Bars, Manuela Stone, Millicent A. Williams, Francis Wolber, Lisa Karppinen, Jaro Maatta, Juhani Thompson, Ben Atchia, Ismael Lorenzi, Alice Raftery, Graham Platt, Phil Platt, Philip N. Pratt, Arthur Turmezei, Thomas D. Treece, Graham M. Gee, Andrew H. Poole, Kenneth E. Chandratre, Priyanka N. Roddy, Edward Clarson, Lorna Richardson, Jane Hider, Samantha Mallen, Christian Lieberman, Abigail Prouse, Peter J. Mahendran, Prini Samarawickrama, Amanda Ottery, Faith D. Yood, Robert Wolfson, Marsha Ang, Andrea Riches, Philip Thomson, Janet Nuki, George Humphreys, Jennifer Verstappen, Suzanne M. Chipping, Jacqueline Hyrich, Kimme Marshall, Tarnya Symmons, Deborah P. Roy, Matthew Kirwan, John R. Marshall, Robert W. Matcham, Faith Scott, Ian C. Rayner, Lauren Hotopf, Matthew Kingsley, Gabrielle H. Scott, David L. Steer, Sophia Ma, Margaret H. Dahanayake, Chanaka Kingsley, Gabrielle Cope, Andrew Wernham, Aaron Ward, Lorna Carruthers, David Deeming, Alison Buckley, Christopher Raza, Karim De Pablo, Paola Carpenter, Lewis Jayakumar, Keeranur Solymossy, Csilla Dixey, Josh Young, Adam Singh, Animesh Penn, Henry Ellerby, Nicholas Mattey, Derek L. Packham, Jonathan Dawes, Peter Hider, Samantha L. Ng, Nora Humby, Frances Bombardieri, Michele Kelly, Stephen Di Cicco, Maria Dadoun, Sabrina Hands, Rebecca Rocher, Vidalba Kidd, Bruce Pyne, Dev Pitzalis, Costantino Poore, Sophie Hutchinson, David Low, Audrey Lunt, Mark Mercer, Louise Galloway, James Davies, Rebecca Watson, Kath Dixon, Will Symmons, Deborah Watson, Kath D. Dixon, William G. Hyrich, Kimme L. Malik, Saadia P. Kelly, Clive Hamilton, Jennifer Heycock, Carol Saravanan, Vadivelu Rynne, Martin Harris, Helen E. Tweedie, Fiona Skaparis, Yiannis White, Marie Scott, Nicola Samson, Kay Mercieca, Cecilia Clarke, Shane Warner, Alexander J. Verstappen, Suzanne Chan, Esther Woodhead, Felix A. Nisar, Mohamed Arthanari, S. Dawson, Julie Sathi, Nav Ahmad, Yasmeen Koduri, Gouri Cumming, Jo Stannett, Peter Hull, Richard Metsios, George Stavropoulos Kalinoglou, Antonios Veldhuijzen van Zanten, Jet J. Nightingale, Peter Koutedakis, Yiannis Kitas, George D. Williams, Peter Walsh, David Perry, Elizabeth de-Soyza, Anthony Moullaali, Thomas Eggleton, Paul Stavropoulos-Kalinoglou, Antonios Sandoo, Aamer de Pablo, Paola Maggs, Fiona Faizal, Abdul Pugh, Mark Jobanputra, Paresh Kehoe, Oksana Cartwright, Alison Askari, Ayman El Haj, Alicia Middleton, Jim Aynsley, Sarah Hardy, Jacob Veale, Douglas Fearon, Ursula Wilson, Gerry Muthana, Munitta Fossati, G. Healy, L. Nesbitt, A. Becerra, Elena Leandro, Maria J. De La Torre, Inmaculada Cambridge, Geraldine Nelson, P. N. Roden, D. Shaw, M. Davari Ejtehadi, Hora Nevill, A. Freimanis, G. Hooley, P. Bowman, S. Alavi, A. Axford, J. Veitch, A. M. Tugnet, N. Rylance, P. B. Hawtree, Sarah Mark Wilkinson, J. Wilson, Anthony G. Woon Kam, Ngar Filter, Andrew Croft, Adam P. Naylor, Amy Zimmermann, Birgit Hardie, Debbie Desanti, Guillaume Jaurez, Maria Muller-Ladner, Ulf Filer, Andrew Neumann, Elena Movahedi, Mohammad Ray, David W. Burmester, Gerd R. Matucci-Cerinic, Marco Navarro-Blasco, Francisco Kary, Sonja Unnebrink, Kristina Kupper, Hartmut Mukherjee, Sandeep Cornell, Patricia Richards, Selwyn Rahmeh, Fouz Thompson, Paul W. Westlake, Sarah L. Javaid, Muhammad K. Batra, Rajbir Chana, Jasroop Round, Gemma Judge, Andrew Taylor, Peter Patel, Sanjeev Cooper, Cyrus Ravindran, Vinod Bingham, Clifton O. Weinblatt, Michael E. Mendelsohn, Alan Kim, Lilianne Mack, Michael Lu, Jiandong Baker, Daniel Westhovens, Rene Hewitt, Jamie Han, Chenglong Keystone, Edward C. Fleischmann, Roy Smolen, Josef Emery, Paul Genovese, Mark Doyle, Mittie Hsia, Elizabeth C. Hart, Jennifer C. Harland, Dave Gibbons, Carl Pang, Hok Huertas, Catherine Diamantopoulos, Alex Dejonckheere, Fred Clowse, M. Wolf, D. Stach, C. Kosutic, G. Williams, S. Terpstra, I. Mahadevan, U. Ferraccioli, G. Samborski, W. Berenbaum, F. Davies, O. Koetse, W. Bennett, B. Burkhardt, H. Luijtens, K. van der Heijde, Desiree Mariette, X. van Vollenhoven, Ronald F. Bykerk, V. de Longueville, M. Arendt, C. Cush, J. Khan, Afsha Maclaren, Zoe Dubash, Sayam Chalam, Venkat C. Sheeran, Tom Price, Tom Baskar, Sangeetha Mulherin, Diarmuid Molloy, Cauline Keay, Fiona Heritage, Caroline Douglas, Barbara Schiff, Michael H. Khanna, Dinesh Furst, Daniel E. Maldonado, Michael A. Li, Wanying Sasso, Eric H. Emerling, Daniel Cavet, Guy Ford, Kerri Mackenzie-Green, Bronwen Collins, David Price, Elizabeth Williamson, Lyn Golla, Janardhana Vagadia, Vipul Morrison, Elaine Tierney, Ann Wilson, Hilary Hunter, John Reddy, Venkat Moore, Samantha Ehrenstein, Michael Benson, Claire Wray, Maria Cairns, Andrew Wright, Gary Pendleton, Adrian McHenry, Michelle Taggart, Allister Bell, Aubrey Bosworth, Ailsa Cox, Maureen Johnston, Graeme Shah, Preeti O'Brien, Anne Jones, Peter Sargeant, Ify Bukhari, Marwan Nusslein, Hubert Alten, Rieke Lorenz, Hannes M. Boumpas, Dimitrios Nurmohamed, Michael T. Bensen, William Peter, Hans-Hartmut Rainer, Franz Pavelka, Karel Chartier, Melanie Poncet, Coralie Rauch, Christiane Lempp, Heidi Hofmann, Darija Adu, Aderonke Congreve, Carron Dobson, Joanne Rose, Diana Simpson, Carol Wykes, Til Ibrahim, Fowzia Schiff, Michael Nash, Peter Durez, Patrick Kaine, Jeffrey Delaet, Ingrid Kelly, Sheila Maldonado, Michael Patel, Salil Jones, Graeme Sebba, Anthony Lepley, Denise Devenport, Jenny Bernasconi, Corrado Smart, Devi Mpofu, Chiedzo Gomez-Reino, Juan J. Verma, Inderjeet Kaur, Jaspreet Syngle, Ashit Krishan, Pawan Vohra, Kanchan Kaur, Ladbans Garg, Nidhi Chhabara, Monica Gibson, Kellie Woodburn, James Telfer, Scott Buckley, Felicity Finckh, Axel Huizinga, Tom W. Jansen, Jeroen P. Rubbert-Roth, Andrea Scali, Juan J. Kremer, Joel M. Pitts, Laura Vernon, Emma Sharif, Mohammed I. Das, Sudipto Helliwell, Philip Sokoll, Katharina Vital, Edward M. Mehta, Puja Holder, Susan Fisher, Benjamin Vincent, Tonia Nadesalingam, Kavitha Maciver, Helen Shingler, Wendy Bakshi, Jyoti Hassan, Sadon D'Cruz, David Chan, Antoni Litwic, Anna E. McCrae, Fiona Seth, Rakhi Nandagudi, Anupama Jury, Elizabeth Isenberg, David Karjigi, Uma Paul, Anupam Rees, Frances O'Dowd, Emma Kinnear, William Johnson, Simon Lanyon, Peter Stevens, Richard Narayan, Nehal Marguerie, Christopher Robinson, Helena Ffolkes, Lorrette Worsnop, Fiona Ostlere, Lucy Kiely, Patrick Dharmapalaiah, Chethana Hassan, Nada Bharadwaj, Anurag Skibinska, Malgorzata Gendi, Nagui Davies, Emma J. Akil, Mohammed Kilding, Rachael Ramachandran Nair, Jagdish Walsh, Maeve Farrar, Wendy Thompson, Robert N. Borukhson, Liubov McFadyen, Charles Singh, Deepwant Rajagopal, Vivek Chan, Angela Marie L. Wearn Koh, Li Christie, Jennifer D. Croot, Lorraine Gayed, Mary Disney, Benjamin Singhal, Saket Grindulis, Karl Reynolds, Timothy D. Conway, Katie Williams, Debbie Quin, John Dean, Gillian Churchill, Duncan Walker-Bone, Karen E. Goff, Iain Reynolds, Gary Grove, Matthew Patel, Priya Lazarus, Mark N. Roncaroli, Frederico Gabriel, Carolyn Kinderlerer, Anne R. Nikiphorou, Elena Hall, Frances C. Bruce, Ellen Gray, Leanne Krutikov, Maria Wig, Surabhi Bruce, Ian D'Agostino, Maria A. Wakefield, Richard Berner Hammer, Hilde Vittecoq, Olivier Galeazzi, Mauro Balint, Peter Filippucci, Emilio Moller, Ingrid Iagnocco, Annamaria Naredo, Esperanza Ostergaard, Mikkel Gaillez, Corine Kerselaers, Wendy Van Holder, Karina Le Bars, Manuela Stone, Millicent A. Williams, Francis Wolber, Lisa Karppinen, Jaro Maatta, Juhani Thompson, Ben Atchia, Ismael Lorenzi, Alice Raftery, Graham Platt, Phil Platt, Philip N. Pratt, Arthur Turmezei, Thomas D. Treece, Graham M. Gee, Andrew H. Poole, Kenneth E. Chandratre, Priyanka N. Roddy, Edward Clarson, Lorna Richardson, Jane Hider, Samantha Mallen, Christian Lieberman, Abigail Prouse, Peter J. Mahendran, Prini Samarawickrama, Amanda Ottery, Faith D. Yood, Robert Wolfson, Marsha Ang, Andrea Riches, Philip Thomson, Janet Nuki, George Humphreys, Jennifer Verstappen, Suzanne M. Chipping, Jacqueline Hyrich, Kimme Marshall, Tarnya Symmons, Deborah P. Roy, Matthew Kirwan, John R. Marshall, Robert W. Matcham, Faith Scott, Ian C. Rayner, Lauren Hotopf, Matthew Kingsley, Gabrielle H. Scott, David L. Steer, Sophia Ma, Margaret H. Dahanayake, Chanaka Kingsley, Gabrielle Cope, Andrew Wernham, Aaron Ward, Lorna Carruthers, David Deeming, Alison Buckley, Christopher Raza, Karim De Pablo, Paola Carpenter, Lewis Jayakumar, Keeranur Solymossy, Csilla Dixey, Josh Young, Adam Singh, Animesh Penn, Henry Ellerby, Nicholas Mattey, Derek L. Packham, Jonathan Dawes, Peter Hider, Samantha L. Ng, Nora Humby, Frances Bombardieri, Michele Kelly, Stephen Di Cicco, Maria Dadoun, Sabrina Hands, Rebecca Rocher, Vidalba Kidd, Bruce Pyne, Dev Pitzalis, Costantino Poore, Sophie Hutchinson, David Low, Audrey Lunt, Mark Mercer, Louise Galloway, James Davies, Rebecca Watson, Kath Dixon, Will Symmons, Deborah Watson, Kath D. Dixon, William G. Hyrich, Kimme L. Malik, Saadia P. Kelly, Clive Hamilton, Jennifer Heycock, Carol Saravanan, Vadivelu Rynne, Martin Harris, Helen E. Tweedie, Fiona Skaparis, Yiannis White, Marie Scott, Nicola Samson, Kay Mercieca, Cecilia Clarke, Shane Warner, Alexander J. Verstappen, Suzanne Chan, Esther Woodhead, Felix A. Nisar, Mohamed Arthanari, S. Dawson, Julie Sathi, Nav Ahmad, Yasmeen Koduri, Gouri Cumming, Jo Stannett, Peter Hull, Richard Metsios, George Stavropoulos Kalinoglou, Antonios Veldhuijzen van Zanten, Jet J. Nightingale, Peter Koutedakis, Yiannis Kitas, George D. Williams, Peter Walsh, David Perry, Elizabeth de-Soyza, Anthony Moullaali, Thomas Eggleton, Paul Stavropoulos-Kalinoglou, Antonios Sandoo, Aamer de Pablo, Paola Maggs, Fiona Faizal, Abdul Pugh, Mark Jobanputra, Paresh Kehoe, Oksana Cartwright, Alison Askari, Ayman El Haj, Alicia Middleton, Jim Aynsley, Sarah Hardy, Jacob Veale, Douglas Fearon, Ursula Wilson, Gerry Muthana, Munitta Fossati, G. Healy, L. Nesbitt, A. Becerra, Elena Leandro, Maria J. De La Torre, Inmaculada Cambridge, Geraldine Nelson, P. N. Roden, D. Shaw, M. Davari Ejtehadi, Hora Nevill, A. Freimanis, G. Hooley, P. Bowman, S. Alavi, A. Axford, J. Veitch, A. M. Tugnet, N. Rylance, P. B. Hawtree, Sarah Mark Wilkinson, J. Wilson, Anthony G. Woon Kam, Ngar Filter, Andrew Croft, Adam P. Naylor, Amy Zimmermann, Birgit Hardie, Debbie Desanti, Guillaume Jaurez, Maria Muller-Ladner, Ulf Filer, Andrew Neumann, Elena Movahedi, Mohammad Ray, David W. Burmester, Gerd R. Matucci-Cerinic, Marco Navarro-Blasco, Francisco Kary, Sonja Unnebrink, Kristina Kupper, Hartmut Mukherjee, Sandeep Cornell, Patricia Richards, Selwyn Rahmeh, Fouz Thompson, Paul W. Westlake, Sarah L. Javaid, Muhammad K. Batra, Rajbir Chana, Jasroop Round, Gemma Judge, Andrew Taylor, Peter Patel, Sanjeev Cooper, Cyrus Ravindran, Vinod Bingham, Clifton O. Weinblatt, Michael E. Mendelsohn, Alan Kim, Lilianne Mack, Michael Lu, Jiandong Baker, Daniel Westhovens, Rene Hewitt, Jamie Han, Chenglong Keystone, Edward C. Fleischmann, Roy Smolen, Josef Emery, Paul Genovese, Mark Doyle, Mittie Hsia, Elizabeth C. Hart, Jennifer C. Harland, Dave Gibbons, Carl Pang, Hok Huertas, Catherine Diamantopoulos, Alex Dejonckheere, Fred Clowse, M. Wolf, D. Stach, C. Kosutic, G. Williams, S. Terpstra, I. Mahadevan, U. Ferraccioli, G. Samborski, W. Berenbaum, F. Davies, O. Koetse, W. Bennett, B. Burkhardt, H. Luijtens, K. van der Heijde, Desiree Mariette, X. van Vollenhoven, Ronald F. Bykerk, V. de Longueville, M. Arendt, C. Cush, J. Khan, Afsha Maclaren, Zoe Dubash, Sayam Chalam, Venkat C. Sheeran, Tom Price, Tom Baskar, Sangeetha Mulherin, Diarmuid Molloy, Cauline Keay, Fiona Heritage, Caroline Douglas, Barbara Schiff, Michael H. Khanna, Dinesh Furst, Daniel E. Maldonado, Michael A. Li, Wanying Sasso, Eric H. Emerling, Daniel Cavet, Guy Ford, Kerri Mackenzie-Green, Bronwen Collins, David Price, Elizabeth Williamson, Lyn Golla, Janardhana Vagadia, Vipul Morrison, Elaine Tierney, Ann Wilson, Hilary Hunter, John Reddy, Venkat Moore, Samantha Ehrenstein, Michael Benson, Claire Wray, Maria Cairns, Andrew Wright, Gary Pendleton, Adrian McHenry, Michelle Taggart, Allister Bell, Aubrey Bosworth, Ailsa Cox, Maureen Johnston, Graeme Shah, Preeti O'Brien, Anne Jones, Peter Sargeant, Ify Bukhari, Marwan Nusslein, Hubert Alten, Rieke Lorenz, Hannes M. Boumpas, Dimitrios Nurmohamed, Michael T. Bensen, William Peter, Hans-Hartmut Rainer, Franz Pavelka, Karel Chartier, Melanie Poncet, Coralie Rauch, Christiane Lempp, Heidi Hofmann, Darija Adu, Aderonke Congreve, Carron Dobson, Joanne Rose, Diana Simpson, Carol Wykes, Til Ibrahim, Fowzia Schiff, Michael Nash, Peter Durez, Patrick Kaine, Jeffrey Delaet, Ingrid Kelly, Sheila Maldonado, Michael Patel, Salil Jones, Graeme Sebba, Anthony Lepley, Denise Devenport, Jenny Bernasconi, Corrado Smart, Devi Mpofu, Chiedzo Gomez-Reino, Juan J. Verma, Inderjeet Kaur, Jaspreet Syngle, Ashit Krishan, Pawan Vohra, Kanchan Kaur, Ladbans Garg, Nidhi Chhabara, Monica Gibson, Kellie Woodburn, James Telfer, Scott Buckley, Felicity Finckh, Axel Huizinga, Tom W. Jansen, Jeroen P. Rubbert-Roth, Andrea Scali, Juan J. Kremer, Joel M. Pitts, Laura Vernon, Emma Sharif, Mohammed I. Das, Sudipto Helliwell, Philip Sokoll, Katharina Vital, Edward M.
Abstract
Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MR
Details
Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.ocn999832506
Document Type :
Electronic Resource