Postnatal function of transforming growth factor beta2 in cardiovascular disease 2 33

Size: px
Start display at page:

Download "Postnatal function of transforming growth factor beta2 in cardiovascular disease 2 33"

Transcription

1 Azhar 1 University of Arizona Tuscan, AZ Postnatal function of transforming growth factor beta2 in cardiovascular disease 2 33 Azhar 2 University of Arizona Tuscan, AZ Role of transforming growth factor - beta3 in arrhythmogenic right ventricular cardiomyopathy/dysplasia type 1 (AVRD1) 2 34 Baudhuin Mayo Clinic Rochester, MN An ACTA2 Genetic Variant in a Family Presenting with a Thoracic Aortic Dissection and a Carotid Aneurysm 2 27 Mitral Valve Surgery in Patients with Bernhardt - 2 University Heart Center HaHamburg, Germany Marfan Syndrome 1 12 Bernhardt -1 University Heart Center HaHamburg, Germany Longterm Results after Aortic Root Replacement in Patients with Marfan Syndrome 1 11 Minimizing Praplegia in PatientsWith Marfan Syndrome Undergoing Descending and Thoracoabdominal Aortic Aneurysm Bischoff Mount Sinai NY, NY Repair 1 13 Tissue and Developmental-Specific Variability in FBN1 Isoform Burchett University of Kentucky Coll Lexington, KY Expression 2 42 Characterization and Treatment of Osteopenia in Mice with Severe Carta Mount Sinai NY, NY Marfan Syndrome 2 35 In vivo deletion of the first hybrid Charbonneau Oregon Health & Science UOregon, WA domain in fibrillin Gene Test Priority in Marfan Child - 1 University of London London, UK Syndrome Screening Clinic 1 1 Child - 2 University of London London, UK Role of ADAMTSL4 Mutations in FBN1 Mutation Negative Etopia Lentis Patients 2 28 Collod-Beroud Inserm U827 Warrenton, VA Marfan syndrome and Associated Disorders (MSAD) Databases: 15 Years of Experience 1 2 Cook Mount Sinai NY, NY Conditional Inactivation of Fibrillin-1 in Aortic Tissue Compartments 2 37

2 Detaint Hospital Bichat Paris, France Do Prince Charles Hospital Brisbane, Australia Faivre - 1 Hopital d'enfants Dijon, France Faivre -2 Hopital d'enfants Dijon, France Forteza - 1 Hospital Universitario Spain Forteza - 2 Hospital Universitario Spain Frand UCLA Los Angeles, CA Hanna Hopital Amroise Pare Boulogne, France Henggeler Hilhorst-Hofstee University of Zurich Schwerzenbach, Switzerland Kan University of Tokyo Tokyo, Japan Evaluation of left ventricular function in 200 patients with Marfan syndrome using conventional Doppler-echocardiography, tissue Doppler and 2D strain imaging Marfan syndrome and Bicuspid Aortic Valve Aneurysm Ultrastructure Abonormalities 2 47 Towards the Dissection of Marfanoid Syndromes with Mental Retardation 1 3 Prenatal and Preimplantation Diagnoses in Marfan Syndrome: The Point of View of French Patients and Geneticists 2 49 Proteinuria and Microalbuminuria as Predictors of Renal Dysfunction in a Cohort of Fourty Eight Marfan Syndrome Patients 1 15 Aortic Valve-Sparing in Marfan Syndrome: Midterm Results with David Operation (Stanford Modification) 1 16 Dynamic Regulation of the Fibrillin- Like FBN1 Protein 2 38 Isolated Ectopia Lentis: Report of a New Deletion In the AdamsL4 Gene and Evidence for Genetic Hetereogeneity of the Autosomal Recessive Form of the Disease 2 29 FBN1, TGFBR1, TGFBR2, and SLC2A10 Mutation Analyses in Patients with Suspected Marfan Syndrome: A Swiss Study 1 50 The Clinical Spectrum of Complete FBN1 Allele Deletions 1 4 Midterm Results of Valve-Sparing Aortic Root Replaecment for Annulo- Aortic Ectasia 1 17

3 Quantitative Sequence Analysis of FBN1 Premature Termination Codons Provides Evidence for Magyar University of Zurich Schwerzenbach, SwitzerlanIncomplete NMD In Leukocytes 1 5 Aortic Disease in a New Mouse Manalo Oregon Health & Science UOregon, WA Model of Marfan Syndrome 2 39 ADAMTSL6beta rescues microfibril disorder in Marfan syndrome through the promotion of fibrillin-1 Masahiro Tokyo University Tokyo, Japan assembly 2 40 Comparison of Pravastatin, Losartan and Doxycycline for Attenuation of Aortic Root Dilation in a Murine Model of Marfan McLoughlin Royal College of Surgeons Dublin, Ireland Syndrome Hemizygous Deletion Comprising COL3A1 and COL5A2 Causes Meienberg University of Zurich Schwerzenbach, SwitzerlanAortic Dissection 2 30 The Natural History of Dural Ectasia Mesfin Johns Hopkins Baltimore, MD in Marfan Syndrome 1 10 Ascending Aneurysms with a bicuspid aortic valvue - What can Mohamd University of Schleswig-Ho Luebeck, Germany we learn from Marfan syndrome? 2 31 Clinical Significance of Unusual Horizontal Striae of the Back in Children with Possible Connective Powell-Hamilton Alfred I. dupont Hospital Wilmington, DE Tissue Disorder 2 51 Radojewski SickKids Toronto, Ontario, Canada Nursing and Research Working Together 1 18 Increased T-Helper Cell Response in Marfan Sundrome is Modified by Radonic Academic Mesical Center Amsterdam, the NetherlandLosarton 2 43 Regulatory role of fibrillin in bone Reinhardt 1 McGill University Canada homeostasis 2 44 Reinhardt 2 McGill University Canada Differential Effects of Neonatal and Classical Marfan Mutations in fibrillin Mechanical Properities of Ascending Aorta with Marfan and Rojo Universidad Politécnica de MaSpain Loeys-Dietz Syndromes 1 19

4 Frequency of Sleep Apnea in Adults Rybcznski -1 University Hospital HamburHamburg, Germany with Marfan Syndrome 1 20 Rybcznski -2 Sanchez Scholte - 1 University Hospital EppendHamburg, Germany Hospital Doce de Octubre Madrid, Spain The Spectrum of Clinical Manifestations in Marfan Syndrome 1 6 Patent Foramen Ovale and Marfan Syndrome: A new Association with Differences Between Children and Adults 1 21 Biventricular Performance in Patients without Significant Valvular Disease: Comparison to Normal Subjects and Longitudinal Follow-up 1 22 Scholte -2 Sengle Shriners Hospitals for ChildOregon, WA Sheikhzadeh University Hospital EppendHamburg, Germany Shiran Stanford University Standford, CA Sponseller Johns Hopkins University Baltimore, MD Summers University of Edinburgh Edinburgh, UK Thakkar Johns Hopkins Hospital Baltimore, MD The Age-Related Regional Changes of Aortic Compliance in the Marfan Syndrome: Assessment with Velocity -Encoded MRI 1 23 A novel genetic pathway underlies Weill-Marchesani syndrome 2 32 Augmentation Index Predicts Cardiovascular Disease in Adults with Marfan-like Features 1 24 Improved Screening for Aortic Root Dilation by Transthoracic Echocardiography 1 25 Musculoskeletal Findings of Loeys- Dietz Syndrome 1 9 Candidate Modifiers of FBN1 Activity May Be Associated with Variable Phenotype in Marfan syndrome 2 46 Protrusio Acetabuli and Total Hip Arthroplasty (THA) in patients with Marfan Syndrome 1 26 Ting Johns Hopkins University Baltimore, MD The Diagnostic Value of the Facial Features of Marfan Syndrome 1 7

5 Transfengic Mice Overexpressing AdamTSL-6 in cartilage exhibit dwarism and cariofacial Tsutsui Oregon Health & Science UOregon, WA abnormalities 2 41 Is it really Marfan syndrome? Differential Diagnoses at the West University of Queensland Queensland, Australia Brisbane Marfan Clinic. 1 8

CLINICAL INFORMATION SHEET

CLINICAL INFORMATION SHEET CLINICAL INFORMATION SHEET Marfan syndrome and related aortic aneurysm syndromes Patient information Name: First Name(s): Sex: M F Date of Birth (dd/mm/yyyy): / / Address: Referring Physician: Referring

More information

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy Link to publication Citation for published version (APA): Franken, R. (2016). Marfan syndrome: Getting

More information

HTAD PATIENT PATHWAY

HTAD PATIENT PATHWAY HTAD PATIENT PATHWAY Strategy for Diagnosis and Initial Management of patients and families with (suspected) Heritable Thoracic Aortic Disease (HTAD) DISCLAIMER This document is an opinion statement reflecting

More information

Clinical Characteristics of Marfan Syndrome in Korea

Clinical Characteristics of Marfan Syndrome in Korea Original Article Print ISSN 1738-5520 On-line ISSN 1738-5555 Korean Circulation Journal Clinical Characteristics of Marfan Syndrome in Korea A Young Lim, MD 1, Ju Sun Song, MD 2, Eun Kyoung Kim, MD 1,

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_marfan_syndrome_thoracic_aortic_aneurysms_and_dissections_and_relat

More information

Effect of Angiotensine II Receptor Blocker vs. Beta Blocker on Aortic Root Growth in pediatric patients with Marfan Syndrome

Effect of Angiotensine II Receptor Blocker vs. Beta Blocker on Aortic Root Growth in pediatric patients with Marfan Syndrome Effect of Angiotensine II Receptor Blocker vs. Beta Blocker on Aortic Root Growth in pediatric patients with Marfan Syndrome Goetz Christoph Mueller University Heart Center Hamburg Paediatric Cardiology

More information

Inheritable Connective Tissue Diseases: Or It s Probably Not Marfan s. RJ Willes 4/23/2018

Inheritable Connective Tissue Diseases: Or It s Probably Not Marfan s. RJ Willes 4/23/2018 Inheritable Connective Tissue Diseases: Or It s Probably Not Marfan s RJ Willes 4/23/2018 This pretty much sums it up. Inheritable Connective tissues diseases A homogenous collection of varied syndromes

More information

Congenital Aortopathies Marfans, Loeys-Dietz, ACTA 2, etc. DATE: October 9 th, 2017 PRESENTED BY: Cristina Fuss, MD

Congenital Aortopathies Marfans, Loeys-Dietz, ACTA 2, etc. DATE: October 9 th, 2017 PRESENTED BY: Cristina Fuss, MD Congenital Aortopathies Marfans, Loeys-Dietz, ACTA 2, etc. DATE: October 9 th, 2017 PRESENTED BY: Cristina Fuss, MD 24 yof present with SoB 9/4/2017 2 24yo F Presenting to local ED with SoB No other pertinent

More information

Diseases of the aorta: Pediatric and adult clinical presentation of the main syndromes. Birgit Donner Universitäts-Kinderspital beider Basel

Diseases of the aorta: Pediatric and adult clinical presentation of the main syndromes. Birgit Donner Universitäts-Kinderspital beider Basel Diseases of the aorta: Pediatric and adult clinical presentation of the main syndromes Birgit Donner Universitäts-Kinderspital beider Basel Seite 2 Pubmed Results >10.000 publications/10 yrs Seite 3 Which

More information

Marfan s Disease in Pregnancy. A Review Of Five Recent Cases and a Consideration of Guidelines. Dr Len Kliman.

Marfan s Disease in Pregnancy. A Review Of Five Recent Cases and a Consideration of Guidelines. Dr Len Kliman. Marfan s Disease in Pregnancy A Review Of Five Recent Cases and a Consideration of Guidelines. Dr Len Kliman. Antoine Bernard-Jean Marfan (1858-1942). Son of a provincial medical practitioner who discouraged

More information

مارفان متلازمة = syndrome Marfan Friday, 15 October :19 - Last Updated Thursday, 11 November :07

مارفان متلازمة = syndrome Marfan Friday, 15 October :19 - Last Updated Thursday, 11 November :07 1 / 8 MARFAN SYNDROME Epidemiology Marfan syndrome is a generalized connective tissue disease affecting approximately 1 in 5000 to 10,000 individuals, with no racial, gender, or geographic predilection.

More information

A growth disturbance and not a disorder with ligamentous laxity

A growth disturbance and not a disorder with ligamentous laxity Marfan Syndrome A growth disturbance and not a disorder with ligamentous laxity 1 in 5,000-10,000 extensive phenotypic variability Fibrillin-1 abnormality Chromsome no. 15 Different forms of mutations

More information

Aortopathy Gene Testing by Sanger sequencing

Aortopathy Gene Testing by Sanger sequencing Department of Molecular Genetics Aortopathy Gene Testing by Sanger sequencing Mutation screening for Marfan syndrome and related disorders has grown to include many genes with overlapping phenotypes. We

More information

Likes ML, Johnston TA. Gastric pseudoaneurysm in the setting of Loey s Dietz Syndrome. Images Paediatr Cardiol. 2012;14(3):1-5

Likes ML, Johnston TA. Gastric pseudoaneurysm in the setting of Loey s Dietz Syndrome. Images Paediatr Cardiol. 2012;14(3):1-5 IMAGES in PAEDIATRIC CARDIOLOGY Likes ML, Johnston TA. Gastric pseudoaneurysm in the setting of Loey s Dietz Syndrome. Images Paediatr Cardiol. 2012;14(3):1-5 University of Washington, Pediatrics, Seattle

More information

Thoracic Aortic Aneurysms with a Genetic Basis

Thoracic Aortic Aneurysms with a Genetic Basis Thoracic Aortic Aneurysms with a Genetic Basis Aws Hamid 1, Elizabeth Lee 1, Maryam Ghadimi Mahani 1, Brian Smiley 1, Jimmy C Lu 1,2, Adam L Dorfman 1,2, Prachi P Agarwal 1 Department of Radiology, University

More information

Marfan syndrome and related heritable aortic disease

Marfan syndrome and related heritable aortic disease Marfan syndrome and related heritable aortic disease Julie De Backer, MD, hd Department of Cardiology and Center for Medical Genetics University Hospital Ghent, Belgium 1 Overview Definition and Diagnostic

More information

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy Link to publication Citation for published version (APA): Franken, R. (2016). Marfan syndrome: Getting

More information

Ascending aorta dilation and aortic valve disease : mechanism and progression

Ascending aorta dilation and aortic valve disease : mechanism and progression Ascending aorta dilation and aortic valve disease : mechanism and progression Agnès Pasquet, MD, PhD Pôle de Recherche Cardiovasculaire Institut de Recherche Expérimentale et Clinique Université catholique

More information

Familial Arteriopathies

Familial Arteriopathies Familial Arteriopathies Reed E. Pyeritz, MD, PhD Perelman School of Medicine University of Pennsylvania Longest and largest blood vessel Anatomical segments differ in physiologic function, embryonic origins

More information

IMAGING the AORTA. Mirvat Alasnag FACP, FSCAI, FSCCT, FASE June 1 st, 2011

IMAGING the AORTA. Mirvat Alasnag FACP, FSCAI, FSCCT, FASE June 1 st, 2011 IMAGING the AORTA Mirvat Alasnag FACP, FSCAI, FSCCT, FASE June 1 st, 2011 September 11, 2003 Family is asking $67 million in damages from two doctors Is it an aneurysm? Is it a dissection? What type of

More information

A Case Of Marfan Syndrome With Ascending And Arch Of Aorta Aneurysm Presenting With Type A- Dissection Of Aorta.

A Case Of Marfan Syndrome With Ascending And Arch Of Aorta Aneurysm Presenting With Type A- Dissection Of Aorta. A Case Of Marfan Syndrome With Ascending And Arch Of Aorta Aneurysm Presenting With Type A- Dissection Of Aorta. Dr E Srikanth, Dr Ravi Srinivas MD.DM, Dr O Adikesava Naidu MD.DM, FACC,FESC. Dr Y V Subba

More information

New Insights on Genetic Aspects of Thoracic Aortic Disease

New Insights on Genetic Aspects of Thoracic Aortic Disease New Insights on Genetic Aspects of Thoracic Aortic Disease John A. Elefteriades, MD William W.L. Glenn Professor of Surgery Director, Aortic Institute at Yale-New Haven Yale University School of Medicine

More information

Operate NOT every BAV aorta at 5 cm. Markus Schwerzmann, MD

Operate NOT every BAV aorta at 5 cm. Markus Schwerzmann, MD Operate NOT every BAV aorta at 5 cm Markus Schwerzmann, MD Historical perspective Curr Probl Cardiol 2008;33:203-77 Yale Center for thoracic aortic disease database (2000): 1600 patients with a thoracic

More information

Random Pearls in Dysmorphology and Genetics

Random Pearls in Dysmorphology and Genetics Random Pearls in Dysmorphology and Genetics Marilyn C. Jones Professor of Clinical Pediatrics, UCSD Wellesley College, BA Columbia University P&S, MD Pediatric Residency and Fellowship in Dysmorphology,

More information

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier

Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name Loeys-Dietz Syndrome OMIM number for disease 609192; 608967; 610380; 610168 Disease

More information

Summers, Kim, West, Jennifer, Peterson, Madelyn, Stark, Denis, McGill, James J., West, Malcolm

Summers, Kim, West, Jennifer, Peterson, Madelyn, Stark, Denis, McGill, James J., West, Malcolm Challenges in the diagnosis of Marfan syndrome Author Summers, Kim, West, Jennifer, Peterson, Madelyn, Stark, Denis, McGill, James J., West, Malcolm Published 2006 Journal Title Medical Journal of Australia

More information

Dr Tracy Dudding Clinical Geneticist Hunter Genetics

Dr Tracy Dudding Clinical Geneticist Hunter Genetics Dr Tracy Dudding Clinical Geneticist Hunter Genetics Genetic testing -Why? Confirm a clinical diagnosis and mode of inheritance Clarify management Identification of at risk family members Family planning

More information

The new Ghent criteria for Marfan syndrome: what do they change?

The new Ghent criteria for Marfan syndrome: what do they change? The new Ghent criteria for Marfan syndrome: what do they change? G Faivre, Gwenaëlle Collod-Béroud, A Adès, A Arbustini, C Child, C Callewaert, B Loeys, C. Binquet, G Gautier, M. Mayer, et al. To cite

More information

NIH Public Access Author Manuscript Nat Clin Pract Cardiovasc Med. Author manuscript; available in PMC 2008 October 3.

NIH Public Access Author Manuscript Nat Clin Pract Cardiovasc Med. Author manuscript; available in PMC 2008 October 3. NIH Public Access Author Manuscript Published in final edited form as: Nat Clin Pract Cardiovasc Med. 2007 March ; 4(3): 167 171. doi:10.1038/ncpcardio0797. Severe aortic and arterial aneurysms associated

More information

GENETIC TESTING FOR MARFAN SYNDROME, THORACIC AORTIC ANEURYSMS AND DISSECTIONS AND RELATED DISORDERS

GENETIC TESTING FOR MARFAN SYNDROME, THORACIC AORTIC ANEURYSMS AND DISSECTIONS AND RELATED DISORDERS AND DISSECTIONS AND RELATED DISORDERS Non-Discrimination Statement and Multi-Language Interpreter Services information are located at the end of this document. Coverage for services, procedures, medical

More information

The Prevalence of Marfan Syndrome in Korea

The Prevalence of Marfan Syndrome in Korea ORIGINAL ARTICLE Epidemiology, Occupation & Environmental Medicine https://doi.org/.6/jkms.7...76 J Korean Med Sci 7; : 76-8 The of Marfan Syndrome in Korea Shin Yi Jang, Su Ra Seo, Seung Woo Park, and

More information

clinical diagnostic criteria for this disorder have been established, 3 4 the latest being the Ghent criteria, which superseded

clinical diagnostic criteria for this disorder have been established, 3 4 the latest being the Ghent criteria, which superseded ARTICLE Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study L. Faivre, G. Collod-Beroud, B.

More information

CURRENT UNDERSTANDING: ANATOMY & PHYSIOLOGY TYPE B AORTIC DISSECTION ANATOMY ANATOMY. Medial degeneration characterized by

CURRENT UNDERSTANDING: ANATOMY & PHYSIOLOGY TYPE B AORTIC DISSECTION ANATOMY ANATOMY. Medial degeneration characterized by DISCLOSURES CURRENT UNDERSTANDING: INDIVIDUAL None & PHYSIOLOGY TYPE B AORTIC DISSECTION INSTITUTIONAL Cook, Inc Not discussing off-label use of anything Medial degeneration characterized by Smooth muscle

More information

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy Link to publication Citation for published version (APA): Franken, R. (2016). Marfan syndrome: Getting

More information

The revised Ghent nosology for the Marfan syndrome

The revised Ghent nosology for the Marfan syndrome The revised Ghent nosology for the Marfan syndrome Bart L Loeys, Harry C Dietz, Alan C Braverman, Bert L Callewaert, Julie De Backer, Richard B Devereux, Yvonne Hilhorst-Hofstee, Guillaume Jondeau, Laurence

More information

Corporate Medical Policy

Corporate Medical Policy Corporate Medical Policy Marfan Syndrome AHS M2144 Notification File Name: Origination: Last CAP Review: Next CAP Review: Last Review: marfan_syndrome 01/01/2019 N/A 01/01/2020 01/01/2019 Description of

More information

Medical Policy An independent licensee of the Blue Cross Blue Shield Association

Medical Policy An independent licensee of the Blue Cross Blue Shield Association Genetic Testing for Marfan Syndrome, Thoracic Aortic Page 1 of 23 Medical Policy An independent licensee of the Blue Cross Blue Shield Association Title: Genetic Testing for Marfan Syndrome, Thoracic Aortic

More information

Interventions of interest are: Testing for genes associated with connective tissue diseases

Interventions of interest are: Testing for genes associated with connective tissue diseases Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms (204129) Medical Benefit Effective Date: 07/01/15 Next Review Date: 05/18 Preauthorization Yes Review Dates: 05/15, 05/16, 05/17 Preauthorization

More information

MP Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders. Related Policies None

MP Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders. Related Policies None Medical Policy Genetic Testing for Marfan Syndrome, Thoracic Aortic Aneurysms and Dissections, and Related Disorders BCBSA Ref. Policy: 2.04.129 Last Review: 02/21/2019 Effective Date: 02/21/2019 Section:

More information

04/03/2018. Romy Franken September 15, Why losartan in Marfan syndrome? 2. Overview of losartan studies

04/03/2018. Romy Franken September 15, Why losartan in Marfan syndrome? 2. Overview of losartan studies Romy Franken September 15, 2017 1. Why losartan in Marfan syndrome? 2. Overview of losartan studies 3. Variablephenotypeandvariabletreatment response 4. What means dominant negative and haploinsufficiency?

More information

UK Genetic Testing Network Marfan syndrome testing guideline workshop

UK Genetic Testing Network Marfan syndrome testing guideline workshop UK Genetic Testing Network Marfan syndrome testing guideline workshop Executive summary 5 th September 2012, 10.30-3.15pm Royal College of Physicians, London Meeting report The UK Genetic Testing Network

More information

What Are the Current Guidelines for Treating Thoracic Aortic Disease?

What Are the Current Guidelines for Treating Thoracic Aortic Disease? What Are the Current Guidelines for Treating Thoracic Aortic Disease? Eric M. Isselbacher, M.D. Director, MGH Healthcare Transformation Lab Co-Director, MGH Thoracic Aortic Center Associate Professor of

More information

Neonatal Marfan Syndrome: Report of Two Cases

Neonatal Marfan Syndrome: Report of Two Cases Case Report Iran J Pediatr Feb 2013; Vol 23 (No 1), Pp: 113-117 Neonatal Marfan Syndrome: Report of Two Cases Ghandi, Yazdan 1, MD; Zanjani, Keyhan S. 1,2 *, MD; Mazhari-Mousavi, Seyed-Eshagh 1, MD; Parvaneh,

More information

A new era in cardiac valve surgery has begun...

A new era in cardiac valve surgery has begun... THE CENTER FOR VALVE SURGERY A new era in cardiac valve surgery has begun... Good Help to Those in Need Rawn Salenger, MD, FACS, Director, The Center for Valve Surgery Edward F. Lundy, MD, PhD, Chief of

More information

Marfan s Syndrome Meraj Ud Din Shah MD, DM, FICC

Marfan s Syndrome Meraj Ud Din Shah MD, DM, FICC 91 Marfan s Syndrome Meraj Ud Din Shah MD, DM, FICC Case Report: A 2 year male child was having routine check up for respiratory infection and was detected to have grade 3/6 murmur in precordium. Patient

More information

University of Groningen. Marfan syndrome and related connective tissue disorders Aalberts, Jan

University of Groningen. Marfan syndrome and related connective tissue disorders Aalberts, Jan University of Groningen Marfan syndrome and related connective tissue disorders Aalberts, Jan IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from

More information

MARFANS SYNDROME-A CASE REPORT

MARFANS SYNDROME-A CASE REPORT TJPRC:International Journal of Cardiology, Echocardiography & Cardiovascular Medicine (TJPRC:IJCECM) Vol. 1, Issue 1 Jun 2015 1-6 TJPRC Pvt. Ltd. MARFANS SYNDROME-A CASE REPORT MEENA, PRAVEENA, PRIYA &

More information

강직성척추염환자에서대동맥박리를동반한마르팡증후군 1 예

강직성척추염환자에서대동맥박리를동반한마르팡증후군 1 예 대한내과학회지 : 제 84 권제 6 호 2013 Http://Dx.Doi.Org/10.3904/Kjm.2013.84.6.873 강직성척추염환자에서대동맥박리를동반한마르팡증후군 1 예 을지대학교의과대학내과학교실 류지원 박지영 송은주 허진욱 A Case of Aortic Dissection with Marfan Syndrome and Ankylosing Spondylitis

More information

Inferior vena cava stenosis: Echocardiographic diagnosis in Marfan syndrome

Inferior vena cava stenosis: Echocardiographic diagnosis in Marfan syndrome OPEN ACCESS Images in cardiology Inferior vena cava stenosis: Echocardiographic diagnosis in Marfan syndrome Sami Nimer Ghazal*, Shady G Ouf Cardiology Division, Internal Medicine Department, King Fahd

More information

EARLY ONSET MARFAN SYNDROME: ATYPICAL CLINICAL PRESENTATION OF TWO CASES

EARLY ONSET MARFAN SYNDROME: ATYPICAL CLINICAL PRESENTATION OF TWO CASES 18 (1), 2015 71-76 DOI: 10.1515/bjmg-2015-0008 ORIGINAL ARTICLE EARLY ONSET MARFAN SYNDROME: ATYPICAL CLINICAL PRESENTATION OF TWO CASES Ozyurt A 1,*, Baykan A 2, Argun M 2, Pamukcu O 2, Halis H 3, Korkut

More information

SURGICAL INTERVENTION IN AORTOPATHIES ZOHAIR ALHALEES, MD RIYADH, SAUDI ARABIA

SURGICAL INTERVENTION IN AORTOPATHIES ZOHAIR ALHALEES, MD RIYADH, SAUDI ARABIA SURGICAL INTERVENTION IN AORTOPATHIES ZOHAIR ALHALEES, MD RIYADH, SAUDI ARABIA In patients born with CHD, dilatation of the aorta is a frequent feature at presentation and during follow up after surgical

More information

Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease

Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease Jason A. Williams, MD, Bart L. Loeys, MD, Lois U. Nwakanma, MD, Harry C. Dietz, MD, Philip J. Spevak,

More information

Marfan syndrome: diagnosis and management. JCS Dean Consultant and Honorary Reader, Department of Medical Genetics, Medical School, Aberdeen, Scotland

Marfan syndrome: diagnosis and management. JCS Dean Consultant and Honorary Reader, Department of Medical Genetics, Medical School, Aberdeen, Scotland PAPER 2007 Royal College of Physicians of Edinburgh Consultant and Honorary Reader, Department of Medical Genetics, Medical School, Aberdeen, Scotland ABSTRACTThe diagnosis of Marfan syndrome requires

More information

Genetic Testing for Heritable Disorders of Connective Tissue

Genetic Testing for Heritable Disorders of Connective Tissue Medical Policy Manual Genetic Testing, Policy No. 77 Genetic Testing for Heritable Disorders of Connective Tissue Next Review: June 2019 Last Review: June 2018 Effective: July 1, 2018 IMPORTANT REMINDER

More information

Single Gene Disorders of the Aortic Wall

Single Gene Disorders of the Aortic Wall Marc Halushka MD, PhD SCVP Companion Meeting Single Gene Disorders of the Aortic Wall Within the pediatric and young adult population, there are many causes of ascending aortic disease. Most of these causes

More information

The Ross Procedure: Outcomes at 20 Years

The Ross Procedure: Outcomes at 20 Years The Ross Procedure: Outcomes at 20 Years Tirone David Carolyn David Anna Woo Cedric Manlhiot University of Toronto Conflict of Interest None The Ross Procedure 1990 to 2004 212 patients: 66% 34% Mean age:

More information

Modeling of predissection aortic size in acute type A dissection: More than 90% fail to meet the guidelines for elective ascending replacement

Modeling of predissection aortic size in acute type A dissection: More than 90% fail to meet the guidelines for elective ascending replacement Modeling of predissection aortic size in acute type A dissection: More than 90% fail to meet the guidelines for elective ascending replacement Rita Karianna Milewski, MD, PhD University of Pennsylvania

More information

Disclosures: Acute Aortic Syndrome. A. Michael Borkon, M.D. Director of CV Surgery Mid America Heart Institute Saint Luke s Hospital Kansas City, MO

Disclosures: Acute Aortic Syndrome. A. Michael Borkon, M.D. Director of CV Surgery Mid America Heart Institute Saint Luke s Hospital Kansas City, MO Acute Aortic Syndrome Disclosures: A. Michael Borkon, M.D. Director of CV Surgery Mid America Heart Institute Saint Luke s Hospital Kansas City, MO No financial relationships to disclose 1 Acute Aortic

More information

Bicuspid Aortic Valve. Marfan Syndrome SUNDAY

Bicuspid Aortic Valve. Marfan Syndrome SUNDAY Genetic Mutations Predisposing to Thoracic Aortic Aneurysm SUNDAY Daniel Vargas, MD Outline GENETIC MUTATIONS PREDISPOSING TO THORACIC ANEURYSM FORMATION Molecular Background Bicuspid Aortopathy Turner

More information

Case Report Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

Case Report Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm Case Reports in Genetics, Article ID 591516, 4 pages http://dx.doi.org/10.1155/2014/591516 Case Report Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm

More information

Death is a Distant Rumor to the Young: The Bicuspid Aortic Valve. Hector I. Michelena, MD Assistant Professor of Medicine NO DISCLOSURES

Death is a Distant Rumor to the Young: The Bicuspid Aortic Valve. Hector I. Michelena, MD Assistant Professor of Medicine NO DISCLOSURES Death is a Distant Rumor to the Young: The Bicuspid Aortic Valve Hector I. Michelena, MD Assistant Professor of Medicine NO DISCLOSURES Leonardo s notes Royal collection, Queen Elizabeth II Leonardo s

More information

Seminar. Marfan s syndrome

Seminar. Marfan s syndrome Marfan s syndrome Daniel P Judge, Harry C Dietz Marfan s syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations

More information

Outline. EuroScore II. Society of Thoracic Surgeons Score. EuroScore II

Outline. EuroScore II. Society of Thoracic Surgeons Score. EuroScore II SURGICAL RISK IN VALVULAR HEART DISEASE: WHAT 2D AND 3D ECHO CAN TELL YOU AND WHAT THEY CAN'T Ernesto E Salcedo, MD Professor of Medicine University of Colorado School of Medicine Director of Echocardiography

More information

Replacement of the Ascending Aorta in Early Childhood: Surgical Strategies and Long-Term Outcome

Replacement of the Ascending Aorta in Early Childhood: Surgical Strategies and Long-Term Outcome Replacement of the Ascending Aorta in Early Childhood: Surgical Strategies and Long-Term Outcome Anne Moreau de Bellaing, MD O. Raisky, A. Haydar, D. Bonnet, F. Bajolle!! Unité médico-chirurgicale de Cardiologie

More information

(i) Family 1. The male proband (1.III-1) from European descent was referred at

(i) Family 1. The male proband (1.III-1) from European descent was referred at 1 Supplementary Note Clinical descriptions of families (i) Family 1. The male proband (1.III-1) from European descent was referred at age 14 because of scoliosis. He had normal development. Physical evaluation

More information

Surgical Management of Mitral Regurgitation in Patients with Marfan Syndrome during Infancy and Early Childhood

Surgical Management of Mitral Regurgitation in Patients with Marfan Syndrome during Infancy and Early Childhood Korean J Thorac Cardiovasc Surg 2015;48:7-12 ISSN: 2233-601X (Print) ISSN: 2093-6516 (Online) Clinical Research http://dx.doi.org/10.5090/kjtcs.2015.48.1.7 Surgical Management of Mitral Regurgitation in

More information

European CMR Certification: LIST OF PROCEDURES FORM

European CMR Certification: LIST OF PROCEDURES FORM European CMR Certification: LIST OF PROCEDURES FORM Application for: Level 2 Level 3 Candidate is requested to submit a list of 150 (Level 2) or 300 (Level 3) studies reported by her/him as detailed in

More information

Cover Page. The handle holds various files of this Leiden University dissertation.

Cover Page. The handle  holds various files of this Leiden University dissertation. Cover Page The handle http://hdl.handle.net/887/20926 holds various files of this Leiden University dissertation. Author: Hilhorst-Hofstee, Yvonne Title: Clinical and genetic aspects of Marfan syndrome

More information

THE GENETICS AND PRRSENTATION OF AORTOPATHIES

THE GENETICS AND PRRSENTATION OF AORTOPATHIES THE GENETICS AND PRRSENTATION OF AORTOPATHIES Rima S Bader MD,PhD, FASE, FRCPCH, FACC Prof of Pediatric and Perinatal Cardiology King Abdul Aziz University, College of Medicine, Jeddah Saudi Arabia DISCLOSURES

More information

BICUSPID AORTIC VALVE. Surgery everytime over 50 mm

BICUSPID AORTIC VALVE. Surgery everytime over 50 mm EuroGUCH 2017 Lousanne 5-6 May BICUSPID AORTIC VALVE Surgery everytime over 50 mm Alessandro Giamberti, MD Head Congenital Cardiac Surgery Unit IRCCS Policlinico San Donato Bicuspid Aortic Valve (BAV)

More information

Echocardiographic Evaluation of the Aorta

Echocardiographic Evaluation of the Aorta Echocardiographic Evaluation of the Aorta William F. Armstrong M.D. Director Echocardiography Laboratory Professor of Medicine University of Michigan The Aorta: What to Evaluate Dimensions / shape Atherosclerotic

More information

Scholars Journal of Medical Case Reports

Scholars Journal of Medical Case Reports Scholars Journal of Medical Case Reports Sch J Med Case Rep 2017; 5(10):630-634 Scholars Academic and Scientific Publishers (SAS Publishers) (An International Publisher for Academic and Scientific Resources)

More information

Original Article. Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

Original Article. Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome Original Article Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome Romy Franken, MD; Alexander W. den Hartog, MD; Teodora Radonic, MD, PhD; Dimitra Micha, PhD;

More information

YOUR CARDIOTHORACIC SURGERY TEAM

YOUR CARDIOTHORACIC SURGERY TEAM JAMES R. TAYLOR, JR., MD, Co-Director, Stony Brook Heart Institute; Chief, Division of Cardiothoracic Surgery and Professor of Surgery, is board certified in cardiothoracic and general surgery, and has

More information

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era Short Communication Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era Kálmán Benke 1,2, Bence Ágg 1,2,3, Janine Meienberg 4, Anna

More information

Sports Participation in Patients with Inherited Diseases of the Aorta

Sports Participation in Patients with Inherited Diseases of the Aorta Sports Participation in Patients with Inherited Diseases of the Aorta Yonatan Buber, MD Adult Congenital Heart Service Leviev Heart Center Safra Childrens Hospital Disclosures None Patient Presentation

More information

Bicuspid Aortic Valve: Only Valvular Disease? Artur Evangelista

Bicuspid Aortic Valve: Only Valvular Disease? Artur Evangelista Bicuspid Aortic Valve: Only Valvular Disease? Artur Evangelista Bicuspid aortic valve BAV is not only a valvulogenesis disorder but also represent coexisting aspects of a genetic disorder of the aorta

More information

We are IntechOpen, the world s leading publisher of Open Access books Built by scientists, for scientists. International authors and editors

We are IntechOpen, the world s leading publisher of Open Access books Built by scientists, for scientists. International authors and editors We are IntechOpen, the world s leading publisher of Open Access books Built by scientists, for scientists 4,100 116,000 120M Open access books available International authors and editors Downloads Our

More information

Surgical Thresholds for proximal aortic disease- Search for an aortic fingerprint to track a Silent Killer

Surgical Thresholds for proximal aortic disease- Search for an aortic fingerprint to track a Silent Killer Surgical Thresholds for proximal aortic disease- Search for an aortic fingerprint to track a Silent Killer Jehangir J. Appoo Libin Cardiovascular Institute University of Calgary www.aorta.ca September

More information

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy Link to publication Citation for published version (APA): Franken, R. (2016). Marfan syndrome: Getting

More information

Pregnancy, Heart Disease and Imaging. Hemodynamics. Decreased systemic vascular resistance. Physiology anemia

Pregnancy, Heart Disease and Imaging. Hemodynamics. Decreased systemic vascular resistance. Physiology anemia Pregnancy, Heart Disease and Imaging Sangeeta Shah, MD, FASE, FACC Associate Professor, Ochsner Clinical School of Medicine Advanced CV Imaging and Adult Congenital Heart Disease New Orleans, LA Hemodynamics

More information

Case 9799 Stanford type A aortic dissection: US and CT findings

Case 9799 Stanford type A aortic dissection: US and CT findings Case 9799 Stanford type A aortic dissection: US and CT findings Accogli S, Aringhieri G, Scalise P, Angelini G, Pancrazi F, Bemi P, Bartolozzi C Department of Diagnostic and Interventional Radiology, University

More information

ROUTINE SURVEILLANCE FOR INDIVIDUALS WITH DOWN SYNDROME

ROUTINE SURVEILLANCE FOR INDIVIDUALS WITH DOWN SYNDROME ROUTINE SURVEILLANCE FOR INDIVIDUALS WITH DOWN SYNDROME NEONATAL (Birth - 1 Month) Review parental concerns. Chromosomal karyotype; genetic counseling, if necessary. If vomiting or absence of stools, check

More information

Midterm Outcome of Valve-Sparing Aortic Root Replacement in Inherited Connective Tissue Disorders. Patients

Midterm Outcome of Valve-Sparing Aortic Root Replacement in Inherited Connective Tissue Disorders. Patients Midterm Outcome of Valve-Sparing Aortic Root Replacement in Inherited Connective Tissue Disorders Hiroshi Tanaka, MD, PhD, Hitoshi Ogino, MD, PhD, Hitoshi Matsuda, MD, PhD, Kenji Minatoya, MD, PhD, Hiroaki

More information

Marfan syndrome and cardiovascular complications: results of a family investigation

Marfan syndrome and cardiovascular complications: results of a family investigation Sarr et al. BMC Cardiovascular Disorders (2017) 17:193 DOI 10.1186/s12872-017-0629-8 CASE REPORT Marfan syndrome and cardiovascular complications: results of a family investigation Open Access Simon Antoine

More information

VASCULITIS AND VASCULOPATHY

VASCULITIS AND VASCULOPATHY VASCULITIS AND VASCULOPATHY Mantosh S. Rattan @CincyKidsRad facebook.com/cincykidsrad Disclosure No relevant financial disclosures Outline Overview Referral pathways MR imaging Case examples Vasculitis

More information

YOUR CARDIOTHORACIC SURGERY TEAM

YOUR CARDIOTHORACIC SURGERY TEAM JAMES R. TAYLOR, JR., MD, Co-Director, Stony Brook Heart Institute; Chief, Division of Cardiothoracic Surgery and Professor of Surgery, is board certified in cardiothoracic and general surgery, and has

More information

2013 Canadian Marfan Association Conference Diagnosis Treatment and Management of Marfan Syndrome and Genetic Aortic Disorders

2013 Canadian Marfan Association Conference Diagnosis Treatment and Management of Marfan Syndrome and Genetic Aortic Disorders 2013 Canadian Marfan Association Conference Diagnosis Treatment and Management of Marfan Syndrome and Genetic Aortic Disorders Vancouver, British Columbia September 27 and 28 CME Accredited Conference

More information

University of Groningen. Marfan syndrome and related connective tissue disorders Aalberts, Jan

University of Groningen. Marfan syndrome and related connective tissue disorders Aalberts, Jan University of Groningen Marfan syndrome and related connective tissue disorders Aalberts, Jan IMPORTANT NOTE: You are advised to consult the publisher's version (publisher's PDF) if you wish to cite from

More information

Evolving phenotype of Marfan s syndrome

Evolving phenotype of Marfan s syndrome Archives of Disease in Childhood 1997;76:41 46 41 Evolving phenotype of Marfan s syndrome Department of Medical Genetics, St Mary s Hospital, Manchester K J Lipscomb J Clayton-Smith R Harris Correspondence

More information

A 23 year old woman with Marfan syndrome and spine deformity (RCD code: I-2A.1)

A 23 year old woman with Marfan syndrome and spine deformity (RCD code: I-2A.1) Journal of Rare Cardiovascular Diseases 2013; 1 (3): 122 128 www.jrcd.eu CASE REPORT Rare diseases of systemic circulation A 23 year old woman with Marfan syndrome and spine deformity (RCD code: I-2A.1)

More information

GENETICS 101. An overview of human genetics and practical applications from an adult medical genetics clinic

GENETICS 101. An overview of human genetics and practical applications from an adult medical genetics clinic GENETICS 101 An overview of human genetics and practical applications from an adult medical genetics clinic Historical timeline of genetics Discuss basics of genetics Discuss tools used in clinic Discuss

More information

EVALUATION OF PREGNANT PATIENTS WITH HEART DISEASE. Karen Stout, MD University of Washington Seattle Children s Seattle, WA

EVALUATION OF PREGNANT PATIENTS WITH HEART DISEASE. Karen Stout, MD University of Washington Seattle Children s Seattle, WA EVALUATION OF PREGNANT PATIENTS WITH HEART DISEASE Karen Stout, MD University of Washington Seattle Children s Seattle, WA CASE PRESENTATION 24 year old woman with aortic regurgitation referred for evaluation

More information

Target Protein Antibody name Product number Manufacturer Species Epitope Dilution Aggrecan Anti-aggrecan AB1031 EMD Millipore Corp Rabbit

Target Protein Antibody name Product number Manufacturer Species Epitope Dilution Aggrecan Anti-aggrecan AB1031 EMD Millipore Corp Rabbit Family history Hypertension/ Maximum Degree of aortic Bicuspid Disease Age/Sex Diagnosed CTD of aortic disease Treated aortic insufficiency/stenosis aortic Aneurysm 63/M No Yes Yes/Yes diameter 59mm 1-2+/None

More information

Marfan syndrome (MFS) is a

Marfan syndrome (MFS) is a CLINICIAN UPDATE Treatment of Aortic Disease in Patients With Marfan Syndrome Dianna M. Milewicz, MD, PhD; Harry C. Dietz, MD; D. Craig Miller, MD Marfan syndrome (MFS) is a heritable disorder of the connective

More information

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication

UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy. Link to publication UvA-DARE (Digital Academic Repository) Marfan syndrome: Getting to the root of the problem Franken, Romy Link to publication Citation for published version (APA): Franken, R. (2016). Marfan syndrome: Getting

More information

Reply to The question of heterogeneity in Marfan syndrome

Reply to The question of heterogeneity in Marfan syndrome Reply to The question of heterogeneity in Marfan syndrome Catherine Boileau, Claudine Junien, Gwenaëlle Collod, Guillaume Jondeau, Olivier Dubourg, Jean-Pierre Bourdarias, Catherine Bonaïti-Pellié, Jean

More information

Marfan syndrome is a variable, autosomal dominant connective tissue disorder, affecting

Marfan syndrome is a variable, autosomal dominant connective tissue disorder, affecting c MAKING Correspondence to: Dr John CS Dean, Department of Medical Genetics, Medical School, Foresterhill, Aberdeen AB25 9ZD, UK; j.dean@abdn.ac.uk General cardiology MANAGEMENT OF MARFAN SYNDROME John

More information

Appropriate Use Criteria for Initial Transthoracic Echocardiography in Outpatient Pediatric Cardiology (scores listed by Appropriate Use rating)

Appropriate Use Criteria for Initial Transthoracic Echocardiography in Outpatient Pediatric Cardiology (scores listed by Appropriate Use rating) Appropriate Use Criteria for Initial Transthoracic Echocardiography in Outpatient Pediatric Cardiology (scores listed by Appropriate Use rating) Table 1: Appropriate indications (median score 7-9) Indication

More information