Journal ArticleDOI
The fibrillin-1 gene: unlocking new therapeutic pathways in cardiovascular disease
Paddy M. Barrett,Eric J. Topol +1 more
TLDR
Although an FBN-1 mutation does not guarantee the diagnosis of Marfan syndrome it is clear however that FBn-1 mutations independently confer additional risk for many of the cardiovascular complications classically associated with the disease.Abstract:
The dramatic reductions in DNA sequencing costs allow us to delve deeper into the genomic alterations that increase susceptibility to many polygenic cardiovascular diseases. One such condition is an abnormal proximal aorta. Until recently, many believed that dilated, distorted or dissected proximal aortas might represent a forme fruste of Marfan syndrome or a continuum of aortopathy. Although an FBN-1 mutation does not guarantee the diagnosis of Marfan syndrome it is clear however that FBN-1 mutations independently confer additional risk for many of the cardiovascular complications classically associated with the disease. Furthermore, treatment with an angiotensin receptor blocker has proven effective in reducing rates of thoracic aortic root dilatation in preliminary studies of Marfan syndrome patients. Awareness of an FBN-1 mutation then highlights the need for increased vigilance for the associated cardiovascular phenotypes. Knowledge of an FBN-1 gene mutation may allow actionable interventions earlier in the natural history of the condition.read more
Citations
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Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
Munir Boodhwani,Gregor Andelfinger,Jonathon Leipsic,Thomas F. Lindsay,M. Sean McMurtry,Judith Therrien,Samuel C. Siu +6 more
TL;DR: This Canadian Cardiovascular Society position statement aims to provide succinct perspectives on key issues in the management of thoracic aortic disease (TAD).
Iconography : Effect of Beta-Blockade on Ascending Aortic Dilatation in Children With the Marfan Syndrome
Magalie Ladouceur,Christophe Fermanian,Jean-Marc Lupoglazoff,Thomas Edouard,Yves Dulac,Philippe Acar,Suzel Magnier,Guillaume Jondeau +7 more
TL;DR: In this paper, the evolution of aortic diameter at the level of the sinuses of Valsalva in 155 children (82 males, 73 females) aged <12 years who had been diagnosed with Marfan syndrome according to international criteria was retrospectively studied.
Journal ArticleDOI
Surgical management of aortic root disease in Marfan syndrome and other congenital disorders associated with aortic root aneurysms
TL;DR: In this article, three forms of root replacement, total root replacement with a valved conduit, valve sparing root replacement (VSRR) and personalised external aortic root support (PEARS) with a macroporous mesh sleeve, were evaluated.
Journal ArticleDOI
Animal models of coronary heart disease.
Jiawei Liao,Wei Huang,George Liu +2 more
TL;DR: This review describes the progress of animal models of coronary heart disease following either spontaneous or diet-accelerated coronary lesions, thus unrepresentative of human coronaryHeart disease progression and pathology.
References
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Journal ArticleDOI
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
Bonnie W. Ramsey,Jane C. Davies,N. Gerard McElvaney,Elizabeth Tullis,Scott C. Bell,Pavel Dř evínek,Matthias Griese,Edward F. McKone,Claire E. Wainwright,Michael W. Konstan,Richard B. Moss,Felix Ratjen,Isabelle Sermet-Gaudelus,Steven M. Rowe,Qunming Dong,Sally Rodriguez,Karl Yen,Claudia L. Ordoñez,J. Stuart Elborn +18 more
TL;DR: Ivacaftor was associated with improvements in lung function at 2 weeks that were sustained through 48 weeks and substantial improvements were also observed in the risk of pulmonary exacerbations, patient-reported respiratory symptoms, weight, and concentration of sweat chloride.
Journal ArticleDOI
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease: Executive summary: A report of the american college of cardiology foundation/american heart association task force on practice guidelines, american association for thoracic surgery, american college of radiology, american stroke association
Loren F. Hiratzka,George L. Bakris,Joshua A. Beckman,Robert M. Bersin,Vincent F. Carr,Donald E. Casey,Kim A. Eagle,Luke K. Hermann,Eric M. Isselbacher,Ella A. Kazerooni,Nicholas T. Kouchoukos,Bruce W. Lytle,Dianna M. Milewicz,David Reich,Souvik Sen,Julie A. Shinn,Lars G. Svensson,David M. Williams,Alice K. Jacobs,Sidney C. Smith,Jeffery L. Anderson,Cynthia D. Adams,Christopher E. Buller,Mark A. Creager,Steven M. Ettinger,Robert A. Guyton,Jonathan L. Halperin,Sharon A. Hunt,Harlan M. Krumholz,Frederick G. Kushner,Rick A. Nishimura,Richard L. Page,Barbara Riegel,William G. Stevenson,Lynn G. Tarkington,Clyde W. Yancy +35 more
Journal ArticleDOI
The revised Ghent nosology for the Marfan syndrome
Bart Loeys,Harry C. Dietz,Alan C. Braverman,Bert Callewaert,Julie De Backer,Richard B. Devereux,Yvonne Hilhorst-Hofstee,Guillaume Jondeau,Laurence Faivre,Dianna M. Milewicz,Reed E. Pyeritz,Paul D. Sponseller,Paul Wordsworth,Anne De Paepe +13 more
TL;DR: A revised Ghent nosology is established, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features and may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis.
Journal ArticleDOI
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.
Jennifer P Habashi,Daniel P. Judge,Tammy M. Holm,Ronald D. Cohn,Bart Loeys,Timothy K. Cooper,Loretha Myers,Erin C Klein,Guosheng Liu,Carla L. Calvi,Megan Podowski,Enid Neptune,Marc K. Halushka,Djahida Bedja,Kathleen L. Gabrielson,Daniel B. Rifkin,Luca Carta,Francesco Ramirez,David L. Huso,Harry C. Dietz +19 more
TL;DR: Losartan, a drug already in clinical use for hypertension, merits investigation as a therapeutic strategy for patients with Marfan syndrome and has the potential to prevent the major life-threatening manifestation of this disorder.
Journal ArticleDOI
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Bart Loeys,Junji Chen,Enid Neptune,Daniel P. Judge,Megan Podowski,Tammy M. Holm,Jennifer Meyers,Carmen C. Leitch,Nicholas Katsanis,Neda A. Sharifi,F Lauren Xu,Loretha Myers,Philip J. Spevak,Duke E. Cameron,Julie De Backer,Jan Hellemans,Yan Chen,Elaine C. Davis,Catherine L. Webb,Wolfram Kress,Paul Coucke,Daniel B. Rifkin,Anne De Paepe,Harry C. Dietz +23 more
TL;DR: These data definitively implicate perturbation of TGFβ signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.