Marfan Syndrome: From Molecules to Medicines*

Slides:

Advertisements

Similar presentations

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Advertisements

Resection of ascending aortic aneurysm without use of an interposition aortic graft John S. Ikonomidis, MD, PhD, FRCS(C), Abe DeAnda, MD, D.Craig Miller,

Stent graft repair of descending aortic dissection in patients with Marfan syndrome: An effective alternative to open reoperation? Luca Botta, MD, Vincenzo.

Of mice and men and surgical transcatheter aortic valve insertion

Recent advances in understanding Marfan syndrome: Should we now treat surgical patients with losartan? Peter Matt, MD, Jennifer Habashi, MD, Thierry.

Lars G. Svensson, MD, PhD, Eugene H. Blackstone, MD

Surgery for congenital diseases of the aorta

Diagnosis and treatment of thoracic aortic intramural hematoma

Targeting TGF-β and the Extracellular Matrix in Marfan's Syndrome

Losartan vs. Atenolol in Marfan Syndrome

Expanding options to manage traumatic thoracic vascular injuries

Stent graft repair of descending aortic dissection in patients with Marfan syndrome: An effective alternative to open reoperation? Luca Botta, MD, Vincenzo.

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections Dong-chuan Guo, Ellen S. Regalado, Amelie Pinard, Jiyuan.

Ultrasound, endoscopy, and the recurrent nerve

Replacement of the ascending aorta in bicuspid aortic valve disease: Where do we draw the line? Thoralf M. Sundt, MD The Journal of Thoracic and Cardiovascular.

Stuttering Mesenteric Ischemia

Aortic dissection in a young man with Loeys–Dietz syndrome

Right internal thoracic artery or saphenous vein grafting

Valve-sparing procedure and Lecompte maneuver in patients with late aortic regurgitation and aortic aneurysm after the arterial switch operation Yih-Sharng.

Syphilitic Angina The American Journal of Medicine

John S. Ikonomidis, MD, PhD, FRCS(C), Abe DeAnda, MD, D

Indications for aortic replacement

Nicholas T. Kouchoukos, MD, Paolo Masetti, MD

Aortic valve implantation with the CoreValve ReValving System via left carotid artery access: First case report Thomas Modine, MD, Gilles Lemesle, MD,

The patient said he would rather die: Should you let him?

Roland Assi, MD, MMS, Wilson Y. Szeto, MD

GeneTests: Integrating Genetic Services into Patient Care*

Valve-sparing root repair: V-shaped remodeling can be performed in all sinuses Paul P. Urbanski, MD, PhD The Journal of Thoracic and Cardiovascular Surgery

The lord of the rings Antonio Miceli, MD, PhD

Kevin M. Harris, MDa, Alan C. Braverman, MDa, Fernando R

Support Your Specialty

Patrick O. Myers, MD, Yacine Aggoun, MD, Cecile Tissot, MD

Ruptured bronchial artery aneurysm associated with sarcoidosis

Erratum The American Journal of Human Genetics

Benjamin R. Plaisance, MD, MPH, Michael A. Winkler, MD, Anil K

The aortic valve–sparing operation

Intraoperative vacuum-assisted closure following in situ graft replacement for an infected thoracic aortic graft Katsuhiro Hosoyama, MD, Shunsuke Kawamoto,

Which is the “lord” of the aortic rings?

Jennifer J. Chung, MD, Jonathan Gordon, BA, Pavan Atluri, MD

Sinus of Valsalva aneurysms: Stabilizing the repair destabilizing the aortic valve? M. Sertaç Çiçek, MD, FACC The Journal of Thoracic and Cardiovascular.

A fate worse than death Jennifer S. Lawton, MD

An acutely angled high takeoff left main coronary artery in an aortic root and proximal arch aneurysm Kyung Hwa Kim, MD, PhD The Journal of Thoracic.

Passing the torch The Journal of Thoracic and Cardiovascular Surgery

Biomaterials for heart valve replacement: Conjectures and refutations

Advantages of the continuous telescopic inversion technique do not overcome the disadvantages of the “turn-up” technique of aortic anastomosis Takeshi.

Ralph S. Mosca, MD The Journal of Thoracic and Cardiovascular Surgery

Yijie Hu, MD, PhD, Qianjin Zhong, MD, PhD

Concomitant replacement of the ascending aorta is free—for some

The origins of open heart surgery at the University of Minnesota 1951 to 1956 Richard A. DeWall, MD The Journal of Thoracic and Cardiovascular Surgery

Usefulness of bridging thoracic endovascular aortic repair and sac irrigation followed by open repair in patients with mycotic thoracic aortic aneurysms

In pregnancy, aortic tissue is the issue

The Journal of Thoracic and Cardiovascular Surgery

Discussion The Journal of Thoracic and Cardiovascular Surgery

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International.

Valve-sparing root replacement: Still so much to learn

When should the elephant (frozen elephant trunk) enter the room (aorta)? Frank A. Baciewicz, MD The Journal of Thoracic and Cardiovascular Surgery Volume.

Concomitant giant coronary artery and coronary sinus aneurysms

John M. Stulak, MD, Joseph A. Dearani, MD, Harold M

Aneurysmal right coronary with fistula to the coronary sinus combined with severe stenosis of the left anterior descending artery: A snake on the heart

Toward a more rational approach in treating type B aortic dissection

Apples remain apples NO matter what

A large international single-center case-series of coronary artery fistulas in children: When high clinical research standards adopted globally create.

Respect the aorta The Journal of Thoracic and Cardiovascular Surgery

John Blebea, MD, Harry C. Sax, MD, Kevin J

The evolution of cardiothoracic critical care

Of mice and men… The Journal of Thoracic and Cardiovascular Surgery

Grant T. Fankhauser, MD, Abe DeAnda, MD, Patrick T. Roughneen, MD

Melanie D. Everitt, MD, Nelangi Pinto, MD, John A. Hawkins, MD, Max B

Descending thoracic and thoracoabdominal aortic aneurysms: “Busted”

Zone zero thoracic endovascular aortic repair is all about “location, location, location” Kevin L. Greason, MD The Journal of Thoracic and Cardiovascular.

Presentation transcript:

Marfan Syndrome: From Molecules to Medicines* Harry C. Dietz The American Journal of Human Genetics Volume 81, Issue 4, Pages 662-667 (October 2007) DOI: 10.1086/521409 Copyright © 2007 Terms and Conditions

Figure 1. Representative images of heart and thoracic aorta from wild-type mice and mice harboring an MFS-associated missense mutation in the Fbn1 gene. Note the dilated ascending aorta (arrowheads) in Marfan-affected mice that received either placebo or the β-adrenergic receptor–blocking agent propranolol (the current standard of care for people with MFS). In contrast, mutant mice that received losartan had normal ascending aortic dimensions. This figure was modified from the work of Habashi et al.17 The American Journal of Human Genetics 2007 81, 662-667DOI: (10.1086/521409) Copyright © 2007 Terms and Conditions

Figure 2. Features of Loeys-Dietz syndrome. Craniofacial features include hypertelorism, bifid uvula, and craniosynostosis (arrow). Cardiovascular features include arterial tortuosity and aneurysms throughout the arterial tree. This figure was modified from the works of Loeys et al.23,24 The American Journal of Human Genetics 2007 81, 662-667DOI: (10.1086/521409) Copyright © 2007 Terms and Conditions

Harry C. Dietz The American Journal of Human Genetics 2007 81, 662-667DOI: (10.1086/521409) Copyright © 2007 Terms and Conditions