Xth INTERNATIONAL HHT SCIENTIFIC CONFERENCE · PDF fileXth INTERNATIONAL HHT SCIENTIFIC...

Xth INTERNATIONAL HHT SCIENTIFIC CONFERENCE

(Cork, Ireland, 12-15 June 2013)

Tuesday June 11th 17:00-20:00 Registration and welcome reception

Wednesday June 12th 7:30-8:00 Registration

8:00-8:15 Welcome and opening remarks

8:15-8:45 Official inauguration of the conference

8:45-9:45. Opening Session (session chairs: Marie Faughnan and Adrian Brady):

Alan Guttmacher, Director of the Eunice Kennedy Shriver National Institute of Child

Health and Human Development. Bethesda, MD, USA, "The Future of Scientific

Research"

9:45-10:15. Coffee break and poster viewing

10:15-12:00. Session I: Arteriovenous malformations and animal models. Angiogenesis and vascular development (session chairs: Helen Arthur and Suk Paul

Oh)

12:00-13:00. Lunch break and poster viewing

13:00-14:00. Poster session with authors (sessions I-IV) 14:00-16:00. Session II: Hepatic involvement in HHT (concurrent) (session chairs:

Guadalupe García-Tsao and Elisabetta Buscarini) 14:00-16:00. Session III, part 1: Genetics and Genotype/Phenotype in HHT (concurrent) (session chairs: Hans Jurgen Mager and Douglas Marchuk)

16:00-16:30. Coffee break and poster viewing 16:30-18:00. Session III, part 2: Genetics and Genotype/Phenotype in HHT (concurrent) (session chairs: Cesare Danesino and Anette D. Kjeldsen)

16:30-18:30. Session IV: Cellular and molecular involvement in HHT and related pathologies (concurrent) (session chairs: Luisa M. Botella and Chris Hughes)

Thursday June 13th

8:30-10:00. Session V, part 1: Central Nervous System involvement and treatment

in HHT (session chairs: Karel TerBrugge, Sophie Dupuis-Girod)



in HHT (session chairs: Marie Faughnan and Adrian Brady)


13:00-14:00. Poster session with authors (sessions V-VIII)

14:00-16:00. Session VI: Molecular diagnostics, markers and epidemiology for HHT

(concurrent) (session chairs: Pinar Bayrak-Toydemir and Beth Roman)

14:00-16:00. Session VII: Antiangiogenic therapies in HHT and outcomes

(concurrent) (session chairs: Carlo Sabba and Michelle Letarte)


16:30-18:00. Session VIII. Anemia, and venothrombous complications in HHT

(session chairs: Terry Oconor and Raj S. Kasthuri)

19:00. GRMAB meeting (on invitation only)

Friday June 14th

8:00-8:30. Plenary Session. (session chair: Adrian Brady)

8:30-10:00. Session IX: Pulmonary involvement: PAVMs and pulmonary

hypertension in HHT (session chairs: Robert White, Günther Schneider)


10:30-12:15. Session X: Epistaxis and gastrointestinal bleeding in HHT (session

chairs: Doug Ross and Urban Geisthoff)

12:15- 13:00. Lunch and Poster viewing

13:00-14:00. Poster session with authors (sessions IX-XII)

14:00-16:00. Session XI: Endoglin, ALK1 and Smad4 in TGF-beta and BMP

pathways (concurrent) (session chairs: Carmelo Bernabeu and Sabine Bailly)

14:00-16:00. Session XII: Paediatrics and natural history of HHT (concurrent)

(session chairs: Meir Mei-Zahav and Alan Guttmacher)

16:00-16:30. Coffee break and poster removal

16:30-18:45. Summary and closing session (session chairs: Carmelo Bernabeu and

Urban Geisthoff)

Saturday June 15th

: Patient workshop

08.30-09.00 Registration

Session 1

09.00 – 09.15 Opening of workshop, explanation of goals and design of workshop

Mr. Mike Nolan / Dr. Adrian Brady

09.15 – 09.45 HHT is an equal opportunity disorder

Dr. Bob White

09.45 – 10.15 Genetic aspects of HHT

Dr. Luisa Botella / Dr. Terry O’Connor

10.15 – 10.45 Pulmonary manifestations (incl. PAVM embolization)

Dr. Marie Faughnan / Dr. Terry O’Connor / Dr. Adrian Brady

10.45 – 11.00 Q & A

11.00 -11.30 Coffee break

Session 2

11.30 – 12.00 HHT in pregnancy

Dr. Claire Shovlin

12.00 – 12.30 Liver, GI tract, cardiac aspects

Speaker TBC

12.30 – 12.45 Anaemia& iron deficiency

Dr. Claire Shovlin

12.45 – 13.00 Q & A

13.00 – 14.00 Lunch

Session 3

14.00 – 14.30 Cerebral & spinal manifestations

Dr. Karel ter Brugge

14.30 – 15.00 Nosebleeds, telangiectases of the mouth & skin manifestations

Dr. Urban Geisthoff

15.00 – 15.15 Antibiotic prophylaxis and infection

Dr. Luisa Botella

15.15 – 15.30 Cork National HHT Centre – what we do, and why.

Dr. Adrian Brady

15.30 – 15.45 Coffee

Session 4

15.45 – 16.00 Grace Nolan Foundation & HHT International – what’s their role for

the average patient and family

Mr. Mike Nolan / Ms. Marianne Clancy

16.00 – 17.00 Q & A, Round table discussion

Panel of speakers

Detailed Programme

Wednesday June 12th 7:30-8:00 Registration

8:00-8:15 Welcome and opening remarks

8:15-8:45 Official inauguration of the conference

8:45-9:45. Opening Session (session chairs: Marie Faughnan and Adrian Brady):

Alan Guttmacher, Director of the Eunice Kennedy Shriver National Institute of Child

Health and Human Development. Bethesda, MD, USA, "The Future of Scientific

Research"


10:15-12:00. Session I: Arteriovenous malformations and animal models.

Angiogenesis and vascular development (session chairs: Helen Arthur and Suk Paul

Oh)

Juan-Carlos López Gutierrez, Director Vascular Anomalies Center and Head of

Pediatric Surgery, La Paz Children’s Hospital Division of Quiron Hospital, Madrid,

Spain “Uncommon Vascular Anomalies” (25+5)

Pathogenesis of arteriovenous malformations in a mouse model of HHT2 (117)

Simon Tual-Chalot, Marwa Mahmoud, Kathleen R. Allinson, S. Paul Oh, Helen

M.Arthur (10+2)

Endothelial cells are the cellular source for the development of arteriovenous

malformations in Alk1 deficiency (136)

Eva M. Garrido-Martín, Yong Hwan Kim, Sewoon Choe, Tyler Cunningham, Zhihua

Jiang, S. Paul Oh (10+2)

Visceral and systemic vascular lesions in patients with non-HHT related pulmonary

arteriovenous malformations (150)

Miyuki Maruno, Hiro Kiyosue, Shuichi Tanoue, Junji Kashiwagi, Shunro Matsumoto,

Hiromu Mori (10+2)

Endoglin and ALK1 play distinct roles in mural cell recruitment and endothelial cell

specification during pathological angiogenesis (67)

Franck Lebrin, Sabrina Martin, Jérémy Thalgott, Diane Bracquart, Samly Srun, Laurent

Venance, Noël Lamandé, Damien Dos-Santos-Luis (10+2)

Modeling Hereditary Haemorrhagic Telangiectasia (HHT) With Patient Specific Induced

Pluripotent Stem Cells (iPSCs) (86)

Valeria Orlova, Christian Freund, Konstantinos Gkatzis, Yvette Drabsch, Lisa van den

Hil, Frans Disch,Hans-Jurgen Mager, Repke Snijder, Kees Westermann, Peter ten Dijke,

Christine Mummery (10+2)


13:00-14:00. Poster session with authors (sessions I-IV)

14:00-16:00. Session II: Hepatic involvement in HHT (concurrent) (session chairs:

Guadalupe García-Tsao and Elisabetta Buscarini)

MANGANESE-RELATED CENTRAL NERVOUS SYSTEM INJURY IN HHT PATIENTS

WITH HEPATIC INVOLVEMENT. RELATIONSHIP WITH IRON DEFICIENCY

ANEMIA, HEPATIC VASCULAR MALFORMATIONS AND NEUROLOGICAL

SYMPTOMS 0066

Serra MM1,3,5,8,,Besada C2,8,Saenz A5,Stefani C4,Giunta D6, Bandi JC1,7,3,Causada

Calo N5,8 ,Elizondo MC6,5

Magnetic resonance imaging of the liver in patients with hepatic involvement of HHT

0065

Massmann A, Geisthoff U, Buecker A, Schneider GK

PREDICTORS OF DEATH IN PATIENTS WITH HHT, LIVER VASCULAR

MALFORMATIONS (LVMs) AND SYMPTOMATIC HEART FAILURE (HF) 0097

Lawrence H. Young, Katharine J. Henderson, Jeffrey S. Pollak, Robert I. White Jr.,Maria

M. Ciarleglio, Yanhong Deng, Guadalupe Garcia-Tsao

Multidetector Contrast-Enhanced Computed Tomography in the Evaluation of Splenic

Involvement in Patients with Hereditary Hemorrhagic Telangiectasia: A Prospective

Study 0020

Mourad Bensalah, Mostafa El Hajjam, Jacques Sellier, Stephen Binsse, Thierry Chinet,

Joëlle Roume, Augustin Ozanne, Isabelle Bourgault, Gilles Lesur, Jean-Hugues Blondel,

Alexandre Cordier, Sandra Blivet, Carole Fagnou, Marcel Bonay, Carma Karam, Agnès

Nicod-Tran, Sophie Chagnon, Mélanie Eyries, Laurent Gouya, Pascal Lacombe.

“Any major treatment decision regarding HHT should be discussed with a HHT

reference center”: C.A.R.D project for HHT patients 0093

Alicante S1, E Buscarini1, G Manfredi1, De Grazia F1, Lupinacci G1, Menozzi F1,

Brambilla G1, Londoni C1, Crinò S1, Zambelli A1, P Gazzaniga2, S Gandolfi3, PA

Forner4, C Danesino5, C Olivieri5, C Canzonieri5, F Ornati5, F Pagella6, M Grosso7, G

Pongiglione8, E Boccardi9, on behalf of HHT-NET

Improvement of Hereditary Hemorrhagic Telangiectasia Related Ischemic

Cholangiopathy Following Treatment with Bevacizumab (0104)

Paraskevi A Vlachou, Errol Colak, Alexander Koculym, Anish Kirpalani, Tae Kyoung

Kim, Gideon M Hirschfield, Marie E Faughnan*

Pulmonary capillary blood volume/alveolo-capillary membrane conductance ratio is

increased in Hereditary Hemorrhagic Telangiectasia patients with liver arteriovenous

malformations (0022)

Matthieu Dubois, Yann Retory, Carole de Picciotto, Jacques Sellier, Mostafa El Hajjam,

Stephen Binsse, Thierry Chinet, Joëlle Roume, Augustin Ozanne, Isabelle Bourgault,

Gilles Lesur, Jean-Hugues Blondel, Alexandre Cordier, Sandra Blivet, Carole Fagnou,

Carma Karam, Agnès Nicod-Tran, Sophie Chagnon, Pascal Lacombe, Mélanie Eyries,

Laurent Gouya, and Marcel Bonay)

Follow-up of HHT patients treated with bevacizumab for severe hepatic vascular

malformations and high cardiac output (Metafore clinical trial) 72

Sophie Dupuis-Girod1, Isabelle Ginon2, Jean-Christophe Saurin3, Denis Marion4, MD,

Elsa Guillot4, Evelyne Decullier5, Marie-France Carette6, Brigitte Gilbert-Dussardier7,

Pierre-Yves Hatron8, Pascal Lacombe9, Bernard Lorcerie10, Sophie Rivière11, Romain

Corre12, Sophie Giraud13, Anne-Emmanuelle Fargeton1, Sabine Bailly14, Gilles

Paintaud15, David Ternant15, Pierre-Jean Valette4, Henri Plauchu1, and Frédéric

Faure16.

14:00-16:00. Session III, part 1: Genetics and Genotype/Phenotype in HHT

(concurrent) (session chairs: Hans Jurgen Mager and Douglas Marchuk)

“Mutation analysis of TGF-beta pathway genes in Hereditary Hemorrhagic

Telangiectasia patients in Japan: Genotype-phenotype correlations in 119 cases”.0054

Hiroko Morisaki, Masaki Komiyama, Osamu Yamada, Keigo Osuga, Takayuki Morisaki,

and Japan HHT Consortium.

“Mutations on a new gene cause a new vascular malformation disorder similar to

Hereditary Hemorrhagic Telangiectasia”006

Whitney L. Wooderchak-Donahue, Jamie McDonald, Brendan O’Fallon, Paul D. Upton,

Wei Li, Beth L. Roman, Sarah Young, Parker Plant, Gyula Tamas, Carmen Langa,

Nicholas W. Morrell, Luisa M. Botella, Carmelo Bernabeu, David A. Stevenson, James R.

Runo, Pinar Bayrak-Toydemir

“Copy Number Variation in Endoglin Locus: Mapping of large deletions in Spanish

families with Hereditary Haemorrhagic Telangiectasia type 1”.0009

Ana Fontalba, Jose L. Fernández-Luna, Roberto Zarrabeitia, Lucia Recio-Poveda,

Virginia Albiñana, Maria L. Ojeda-Fernández, Carmelo Bernabéu, C, Alcaraz, Luisa M.

Botella

“Endoglin mutational mechanisms and genotype-phenotype correlations in hereditary

haemorrhagic telangiectasia”0035.

Govani FS, Giess A, Mollet IG, Begbie ME, Jones MD, Game L, Shovlin CL


16:30-18:00. Session III, part 2: Genetics and Genotype/Phenotype in HHT

(concurrent) (session chairs: Cesare Danesino and Anette D. Kjeldsen)

"Clinical expression of Hereditary Haemorrhagic Telangiectasia and digestive lesion

characteristics in patients with SMAD4 mutation."0070

M. Bonjean, S. Giraud, E. Decullier, JC Saurin, P.Edery, S. Dupuis-Girod

“Clinical Analysis of 42 HHT1 and 23 HHT2 Japanese Patients” 0005.

Masaki Komiyama, Tomoya Ishiguro, Osamu Yamada, Hiroko Morisaki

“Genotype-Phenotype correlations in Hereditary Haemorrhagic Telangiectasia. Data of

the French Rendu-Osler-Weber cohort.”0069

C. Paez, S. Giraud, G. Lesca, E. Decullier, E. Babin, MF. Carette, R. Corre, P. Duffau,

B. Gilbert-Dussardier, PY. Hatron, JR. Harle, P. Kaminsky, P. Lacombe, C. Lavigne, P.

Lorcerie, P. Magro, S. Rivière, P. Edery, S. Dupuis-Girod

“The Italian Job”: our experience in HHT management” 0103.

C. Olivieri, C. Canzonieri, F. Ornati, F. Pagella, E. Buscarini, L. Lanzarini , G Manfredi ,

E. Matti , F. Chu, P. Gazzaniga , S. Gandolfi , PA Forner , M Grosso , G Pongiglione, E

Boccardi and C. Danesino

“Does genetic status modify pulmonary arteriovenous malformation phenotypes?”0130

A KHALIL, B MONOD, M EYRIS, J CADRANEL, F LEBRIN, MF CARETTE.

16:30-18:30. Session IV: Cellular and molecular involvement in HHT and related

pathologies (concurrent) (session chairs: Luisa M. Botella and Chris Hughes)

Role of macrophages in HHT pathogenesis (139)

Yong Hwan Kim, Se-woon Choe, Eun-Jung Choi, S. Paul Oh

Characterization of a myeloid specific endoglin knock-out mouse: the role of endoglin in

the innate immune response(38)

L Ojeda-Fernández, L Recio-Poveda, P Lastres, HM Arthur, C Bernabéu, LM Botella

No link between CXCR4/SDF-1 abnormalities on mononuclear leucocytes and history of

severe infection in HHT (125)

A Guilhem, S Dupuis-Girod, T Vincent, P Portales, D Cerrutti, P Guilpain, A Le Quellec,

S Riviere

The potential role of endoglin in regulating myeloid cells during resolution of

inflammation (41)

Mirjana Jerkic, Madonna Peter, David Douda, Valentin Sotov, Daniela S Ardelean,

Nades Palaniyar, Michelle Letarte

The endoglin overexpression compromises the immune response in myeloid cells. Novel

insights for Hereditary Hemorrhagic Telangiectasia (29)

FJ Blanco, ML Ojeda-Fernandez, M Aristorena, LM Botella, C Bernabeu.

Endoglin deficiency leads to increased endothelial cell permeability(75)

MirjanaJerkic, Zhe Albert Liang, Michelle Letarte

Alk1 and Endoglin regulation of endothelial gap junction expression(96)

DucPhan, Jai-Hyun Kim, Christopher C.W. Hughes

Loss of endothelial endoglin weakens the endothelial barrier to cancer cell

transmigration and leads to increased metastases(120)

Zhenhua Zhai, Rachael Redgrave Simon Tual-Chalot, Helen M Arthur

Endoglin Expression Increases the Pro-Angiogenic Potential of Transplanted CDCs

Following Myocardial Infarction in Mice (119)

Rachael Redgrave, Benjamin Davison, Muhammad Amirrasouli, Bernard Keavney,

Andrew Blamire, Helen M Arthur

Shedding of soluble endoglin is regulated by oxysterols and is involved in hypertension

(57)

AC Valbuena-Diez, FJ Blanco, B Oujo, C Langa, M Gonzalez-Nuñez, E Llano, AM

Pendas, M Díaz, A Castrillo, JM Lopez-Novoa, C Bernabeu

Thursday June 13th


in HHT (session chairs: Karel TerBrugge, Sophie Dupuis-Girod)

Douglas Marchuk, Department of Molecular Genetics and Microbiology, Duke

University Medical Center, Durham, NC, USA.

“Cerebral Cavernous Malformations: The Road from Gene Discovery to

Treatment” (25+5)

Malformations of cortical development and brain vessels in patients with hereditary

haemorrhagic telangiectasia 0028

Jean-François Bergerot, Sophie Dupuis-Girod, Yves Berthezene, Tae-Hee Cho, Florence

Tahon, Jérôme Honnorat, Henri Plauchu, Marc Hermier

Cerebral Abscesses as a first symptom of HHT among Danish HHT patients. 0016

Anette Drøhse Kjeldsen, Pernille M.Tørring Henrik Nissen Poul Erik Andersen

MRI and MRA for the Detection of CAVM in patients with HHT. 0059

Massmann A, Geisthoff UW, Buecker A, Schneider GK



in HHT (session chairs: Marie Faughnan and Adrian Brady)

Christian Stapf, University Professor of Neurology, Diderot Sorbonne University Paris

and Adjunct Assistant Professor of Neurology, Columbia University College of

Physicians and Surgeons, USA

“Outcomes and Management of Unruptured Brain AVMs”

Micro Brain Vascular Malformations associated with Hereditary Hemorrhagic

Telangiectasia: Arteriovenous Malformations and Capillary Malformations 0008

Takeo Nishida, Karel G terBrugge Timo Krings, Katharine Henderson, Robert I White Jr.

Coincidental and acquired neurovascular malformations and shunts associated with

HHT disorder 0123

K terBrugge, Takeo Nishida, Timo Krings

A Comparison of Hemorrhage and Nonhemorrhage in Patients with CCM1 Common

Hispanic Mutation 0147

Leslie Morrison, Blaine Hart, Beth Baca, Yasir Khan, Jeffrey Nelson, Hélène Choquet,

Amy Akers, Helen Kim


13:00-14:00. Poster session with authors (sessions V-VIII)

14:00-16:00. Session VI: Molecular diagnostics, markers and epidemiology for HHT

(concurrent) (session chairs: Pinar Bayrak-Toydemir and Beth Roman)

MiR-205 is a novel biomarker for hereditary hemorrhagic telangiectasia with

antiangiogenic function (37)

Sebastien P. Tabruyn, Sylvain Hansen, Maria-Luisa Ojeda-Fernández, Roberto,

Zarrabeitia, Lucia Recio-Poveda, Nicolas Bovy, Carmelo Bernabéu, Joseph. A. Martial,

Luisa-Maria Botella, Ingrid Struman

Clinical utility of a next generation sequencing panel in the diagnosis of Hereditary

Hemorrhagic Telangiectasia (HHT) and other syndromes featuring vascular

malformations (7)

Whitney L. Wooderchak-Donahue, Brendan O’Fallon, Tracey Lewis, Jamie McDonald,

Jennifer Stocks1, Parker Plant, David A. Stevenson, J. Fredrik Grimmer, Pinar Bayrak-

Toydemir.

“Multiple deleterious mutations in angiogenesis-related genes generate symptoms

indistinguishable from Hereditary Hemorrhagic Telagiectasia (HHT)”. 0039

Brendan O'Fallon, Whitney Wooderchak-Donahue, Andrew Wilson, Jamie McDonald,

Pinar Bayrak-Toydemir.

Combined genetic, in-silico and functional tools for interpretation of the pathogenic

significance of ACVRL1 missense mutations (63)

Giraud S, Vercherat C, Auboiroux C, Bailly S, Lesca G, Scoazec JY, Calender A

Establishment of an in vitro functional test to screen novel endoglin mutations from

HHT1 patients (48)

Lamribet K, Giraud S, Mallet C, Feige JJ, Bailly S, Tillet E

The prevalence of Hereditary Haemorrhagic Telangiectasia in the UK and associations

with sex, region of residence and socioeconomic status: a population-based study 46

J W Donaldson(1), T M McKeever(1), I P Hall(2), R B Hubbard(1), A W Fogarty(1)

"Urinary angiogenesis biomarkers in Sturge-Weber Syndrome: Update in a longitudinal

study 108

"Catherine D Bachur (1), Kira E Lanier (1), Adam S Curatolo (2), Susan M Connors (2),

Marsha A Moses, MD (2,3)*, and Anne M Comi, MD (1,4,5)*

14:00-16:00. Session VII: Antiangiogenic therapies in HHT and outcomes

(concurrent) (session chairs: Carlo Sabba and Michelle Letarte)

"ELLIPSE Study: A phase-1 study evaluating the tolerance of bevacizumab nasal spray

to treat epistaxis in Hereditary Haemorrhagic Telangiectasia" 0027

A.-E.Fargeton, F. Faure, A. Ambrun, E. Decullier, F. Chapuis, F. Disant, G. Samson, C

Rioufol, V. Schwiertz, Y. Donazzolo, G. Paintaud, S. Dupuis-Girod.

“Bevacizumab in HHT: a retrospective study of 24 patients” -0126

S. Riviere , A. Guilhem , A-C. Simon , P. Duffau , M-F.Carette , B. Gilbert-Dussardier ,

O.Bletry , J-R.Harle , P. Kaminsky , B. Lorcerie , N.Lerolle , C. Lavigne, J-C. Saurin , A.

Lequellec, S. Dupuis-Girod

“Outcomes of bevacizumab plus laser in the treatment of HHT related epistaxis” 0128.

Whitehouse AB, Ortega I, Gossage JR

“Efficacy and safety of thalidomide for treatment of chronic severe GI bleeding in

hereditary hemorrhagic telangiectasia.0131.

G Manfredi, E Buscarini, De Grazia F, Lupinacci G, Menozzi F, Brambilla G, Londoni

C, Alicante S, Crinò S, Zambelli A, PGazzaniga, SGandolfi, PA Forner, C Danesino, C

Olivieri, C Canzonieri, F Ornati, M Grosso, G Pongiglione, E Boccardi

“Beneficial effects of anti-VEGF therapy in the pulmonary vasculature of endoglin and

Alk1 heterozygous mice”.0040

Daniela S. Ardelean, Mirjana Jerkic, Madonna Peter, Michelle Letarte

Anti-angiogenic therapy in HHT: effects on hepatic vasculature in mouse models”.0134.

Daniela S. Ardelean, Mirjana Jerkic, Melissa Yin, Robert S. Kerbe, F. Stuart Foster,

Michelle Letarte

“VEGF antibody can prevent and normalize arteriovenous malformations in an animal

model for hereditary hemorrhagic telangiectasia 2”. 0140.

ChulHan, Se-woon Choe, Yong Hwan Kim , Young-Jae Lee, S. Paul Oh

"Topical timolol for treatment of epistaxis in hereditary hemorrhagic telangiectasia

associated with bradycardia - A look at CYP2D6"0052.

"Narendranath Epperla, Murray H Brilliant PHD Humbert, J Vidaillet MD

“Propranolol as antiangiogenic candidate for the therapy of Hereditary Hemorrhagic

Telangiectasia”.0010

Virginia Albiñana, Lucía Recio-Poveda, Roberto Zarrabeitia, Carmelo Bernabéu, Luisa

María Botella


16:30-18:00. Session VIII. Anemia, and venothrombous complications in HHT

(session chairs: Terry Oconor and Raj S. Kasthuri)

Developing a tool to assess dietary iron intake in a UK population with HHT 0135

Finnamore H.E.(1,3,4), Le Couteur J.(5), Hickson M.(2), Whelan K.(3), Shovlin C.L.

(1,6)

Left Atrial Appendage Closure for Stroke Prevention in Patients with Hereditary

Hemorrhagic Telangiectasia and Atrial Fibrillation 0032

Veronique M.M. Vorselaars Sebastiaan Velthuis Martin J. Swaans dr. Johannes J.Mager

Repke J. Snijder dr. Benno J.W. M. Rensing dr. Lucas V. A. Boersma dr. Martijn C. Post

Low serum iron levels are associated with pulmonary emboli/deep venous thromboses

(venous thromboemboli) in hereditary haemorrhagic telangiectasia. 0033

Livesey JA, Manning RA, Meek JH, Jackson JE, Kulinskaya E, Laffan MA, Shovlin CL

Iron deficiency is explained by under-replacement of iron losses in hereditary

haemorrhagic telangiectasia 0100

Finnamore H, Le Couteur J, Hickson M, Busbridge B, Whelan K, Shovlin CL

Iron tablet profiling 0102

Gilson C, Busbridge M, Shovlin CL

The tolerance of antiplatelet and anticoagulant agents in hereditary haemorrhagic

telangiectasia 0099

Devlin HL, Hosman AE and Shovlin CL

Anemia is an important clinical problem in HHT 0142

1M. Montifar, 2R.S. Kasthuri, 3H. Kim, 4W.L. Young, 1M.E. Faughnan and the HHT

BVMC Investigator Group

19:00. GRMAB meeting (on invitation only)

Friday June 14th

8:00-8:30. Plenary Session. (session chair: Adrian Brady)

Timothy Barrett, School of Clinical and Experimental Medicine, Birmingham

Children’s Hospital, Birmingham, England

“Combining rare disease services with research: a European Rare Diseases

Register”

8:30-10:00. Session IX: Pulmonary involvement: PAVMs and pulmonary

hypertension in HHT (session chairs: Robert White, Günther Schneider)

Pulmonary shunt grading on transthoracic contrast echocardiography predicts the

indication for transcatheter embolotherapy of pulmonary arteriovenous malformations.

0013

S. Velthuis(1), E. Buscarini(2), MWF. Van Gent(1), P. Gazzaniga(3), G. Manfredi(2), C.

Danesino(4), CJJ. Westermann(5), RJ. Snijder(5), JJ. Mager(5), MC. Post(1)

Grade of pulmonary right-to-left shunt on contrast echocardiography and cerebral

complications; a striking association.0014

Sebastiaan Velthuis(1), Elisabetta Buscarini(2), Marco WF van Gent(1), Pietro

Gazzaniga(3), Guido Manfredi(2), Cesare Danesino(4), Wouter J Schonewille(5),

Cornelis JJ Westermann(6), Repke J Snijder(6), Johannes J Mager(6) and Martijn C

Post(1)

Diagnosis and treatment of thoracic complications of pulmonary arteriovenous

malformations: rupture or thrombosis. 22 cases. 0019

Mostafa El Hajjam, Stephen Binsse, Jacques Sellier, Thierry Chinet, Joëlle Roume,

Augustin Ozanne, Isabelle Bourgault, Gilles Lesur, Jean-Hugues Blondel, Alexandre

Cordier, Sandra Blivet, Carole Fagnou, Marcel Bonay, Carma Karam, Agnès Nicod-Tran,

Sophie Chagnon, Mélanie Eyries, Laurent Gouya, Pascal Lacombe.

Oxygen delivery and consumption is preserved in hypoxaemic patients with pulmonary

arteriovenous malformations and hereditary haemorrhagic telangiectasia 0101

Santhirapala V, Howard LSGE, Murphy K, Mukherjee B, Busbridge M, Tighe HC,

Hughes JMB, Jackson JE, Shovlin CL

The role of transthoracic contrast echocardiography in the clinical diagnosis of

hereditary haemorrhagic telangiectasia. 0012

S. Velthuis(1), VMM. Vorselaars(1), MWF. Van Gent(1), CJJ. Westermann(2), RJ.

Snijder(2), JJ. Mager(2), MC. Post(1)

Peri-procedural complications associated with transcutaneous embolisation for

pulmonary arteriovenous malformations: A systematic review and meta-analysis 0047

J W Donaldson(1), I P Hall(2), R B Hubbard(1) , A W Fogarty(1), T M McKeever(1)

Contrast-enhanced Magnetic Resonance Angiography for Management of PAVMs in

Patients with HHT 0062

Schneider GK, Geisthoff UW, Buecker A, Massmann A

Female sex and ENG mutation are associated with an increased risk of PAVM in patients

with definite HHT 0118

Gossage JR(1), Kim H(2), Faughnan ME(3), Young WL(2), and the BVMC

Investigators.


10:30-12:15. Session X: Epistaxis and gastrointestinal bleeding in HHT (session

chairs: Doug Ross and Urban Geisthoff)

Lifestyle and dietary influences on nosebleed severity in hereditary haemorrhagic

telangiectasia 0034

Silva BM, Hosman AE, Devlin HL, Shovlin CL

The Minimally Important Difference in the Epistaxis Severity Score among Patients with

Hereditary Hemorrhagic Telangiectasia 0113

Christian A. Merlo 1,2, Jeffrey B. Hoag 3 Sally Mitchell 1 Gina Robinson 1 Stephen

Mathai 1 Peter B. Terry 1 Douglas D. Reh 1

A management algorithm for epistaxis in HHT – a cohort of 363 patients. 0042

Joanne Rimmer (1) & Valerie J Lund (1,2)

Development and validation of an endoscopic staging system for Hereditary

Hemorrhagic Telangiectasia (HHT) 0115

Douglas D. Reh, Linda X. Yin, Kulsoom Laeeq, Christian A. Merlo

Epistaxis severity does not predict likelihood of brain or lung AVM in HHT, 0133

Whitehead KJ (1), McDonald J (2), Ward PD (3), Wilson K (3)

Long-term results of extensive endoscopic treatment of GI teleangiectases in patients

with Hereditary Hemorrhagic Telangiectasia and gastrointestinal bleeding 0092

Crinò S1, E Buscarini1, De Grazia F1, Lupinacci G1, G Manfredi1, Alicante S1,

Zambelli A1, P Gazzaniga2, S Gandolfi3, PA Forner4, C Danesino5, C Olivieri5, C

Canzonieri5, F Ornati5, F Pagella6, M Grosso7, G Pongiglione8, E Boccardi9, on behalf

of HHT-NET

Detection of endonasal telangiectases with Narrow Band Imaging (NBI) in patients

suffering from HHT 0144

B. J. Folz, C.-G. Konnerth

12:15- 13:00. Lunch and Poster viewing

13:00-14:00. Poster session with authors (sessions IX-XII)

14:00-16:00. Session XI: Endoglin, ALK1 and Smad4 in TGF-beta and BMP

pathways (concurrent) (session chairs: Carmelo Bernabeu and Sabine Bailly)

Endothelial endoglin is involved in leukocyte adhesion and transmigration. Isthis a novel

pathogenicmechanism in HHT?(2)

Elisa Rossi, Francisco Sanz-Rodriguez, Nelida Eleno, Annette Düwell, Francisco J.

Blanco, Carmen Langa, Luisa M. Botella, Carlos Cabañas, Jose M. Lopez-Novoa,

Carmelo Bernabeu

BMP9 and BMP10, the two specific ligands for ALK1 are critical for postnatal retinal

vascular remodelling(50)

Nicolas Ricard, Sandrine Levet, DelphineCiais, MarielaSubileau, Christine Mallet, Marie

Bidart, Jean-Jacques Feige, and Sabine Bailly

Circulating Bmp10 acts through endothelial Alk1 to mediate flow-dependent arterial

quiescence(58)

Derek W. Laux, Sarah Young, James P. Donovan, Corrine J. Mansfield, Paul D. Upton,

and Beth L. Roman

ALK5 and ALK1 play antagonistic roles in TGFβ-induced podosome formation in aortic

endothelial cells (76)

Filipa CURADO, Patricia ROTTIERS, Isabel EGANA, Elisabeth GENOT

Targeting Endoglin Activity Improves Survival and Limits Adverse Right Ventricular

Remodeling in a Murine Model of Pulmonary Hypertension(94)

Navin K Kapur, Xiaoying Qiao, Vikram Paruchuri, Emily E Mackey, Gerard H Daly,

Prerna Nepali, Mark J Aronovitz, Michelle Letarte, Richard H. Karas

Atorvastatin prevents endoglin and eNOS decreased expression in TNF-alpha induced

inflammation in HUVECs(51)

Petr Nachtigal, Lenka Zemankova, Michala Varejckova, Jana Pfeiferová, Katerina

Jezkova, Ivana Nemeckova

14:00-16:00. Session XII: Paediatrics and natural history of HHT (concurrent)

(session chairs: Meir Mei-Zahav and Alan Guttmacher)

DIAGNOSTIC YIELD OF RESCREENING FOR ARTERIOVENOUS

MALFORMATIONS IN CHILDREN WITH HEREDITARY HEMORRHAGIC

TELANGIECTASIA 0137 Giuseppe A. Latino, Marie E. Faughnan, Susan Carpenter,

Suhail A. Al-Saleh, Felix Ratjen

Detection of pulmonary arteriovenous malformation by contrast echocardiography in

pediatric hereditary hemorrhagic telangiectasia.0021

Pauline Balagny, Carma Karam, Jacques Sellier, Mostafa El Hajjam, Stephen Binsse,

Thierry Chinet, Joëlle Roume, Augustin Ozanne, Isabelle Bourgault, Gilles Lesur, Jean-

Hugues Blondel, Alexandre Cordier, Sandra Blivet, Carole Fagnou, Marcel Bonay,

Pascal Lacombe, Olivier Dubourg, Nicolas Mansencal.

Children screening for PAVM: 15 years follow-up in The Netherlands.0055

A. Gauthier, A.L. Diederik, CJJ Westermann, R.J Snijder, JJ Mager

Epidemiological survey on cancer rates in patients with hereditary haemorrhagic

telangiectasia and controls 0098

Hosman AE, Devlin HL, Silva BM, Shovlin CL

Clinical manifestation in large cohort of pediatric patients with HHT1 and HHT2: a

cross-sectional study 0106

G.M. Lenato1, P. Giordano2, P. Suppressa1, M. Sangerardi2, P. Piccarreta2, P. Lastella1,

F. Dicuonzo3, A. Scardapane4, M.L. Fiorella5, C. Sabbà1

EPISTAXIS SEVERITY SCORE IN PEDIATRIC PATIENTS WITH HEREDITARY

HEMORRHAGIC TELANGIECTASIA 83

DA Stevenson1, J McDonald2,3, P Bayrak-Toydemir2,3, PD Ward4, Wilson K4, K

Whitehead5

Longitudinal study of natural history of arteriovenous malformations in evolutionary age

of hereditary haemorrhagic telangiectasia 0107

P. Suppressa1, P. Giordano2, G.M. Lenato1, M. Sangerardi2, P. Lastella1, D. Quaranta3,

L. Chiumarulo4, R. Valerio1, P. Buonamico5, B. Covella2, D. De Mattia2, C. Sabbà1

A hereditary hemorrhagic telangiectasia severity score 0141

Giuseppe A Latino and Marie E Faughnan, Helen Kim, William Young, The Brain

Vascular Malformation Consortium

Age of Presentation in HHT: Brain AVM diagnosis vs. epistaxis 0138

Doris Lin(1), Astrid Zessler(2), William Young(3), Marie E. Faughnan (4) and the Brain

Vascular Malformation Consortium (BVMC)

16:00-16:30. Coffee break and poster removal

16:30-18:45. Summary and closing session (session chairs: Carmelo Bernabeu and

Urban Geisthoff)

Dennis L Sprecher, Senior Director Discovery Medicine and Drug Development,

GlaxoSmithKline, King of Prussia, PA, USA, “Drug Development: A Pharmaceutical

Perspective”

"My life with Endoglin and HHT"

Michelle Letarte, Molecular Structure and Function Program, Hospital for Sick

Children, Toronto, ON, Canada

Summaries of Clinical, Basic Science and Genetics areas will be presented by Chris

Hughes, Claire Shovlin and Pinar Bayrak-Toydemir

Evening

Gala dinner

Saturday June 15th

Patient workshop

08.30-09.00 Registration

Sesssion 1

09.00 – 09.15 Opening of workshop, explanation of goals and design of workshop

Mr. Mike Nolan / Dr. Adrian Brady

09.15 – 09.45 HHT is an equal opportunity disorder

Dr. Bob White

09.45 – 10.15 Genetic aspects of HHT

Dr. Luisa Botella / Dr. Terry O’Connor

10.15 – 10.45 Pulmonary manifestations (incl. PAVM embolization)

Dr. Marie Faughnan / Dr. Terry O’Connor / Dr. Adrian Brady

10.45 – 11.00 Q & A

11.00 -11.30 Coffee break

Sesssion 2

11.30 – 12.00 HHT in pregnancy

Dr. Claire Shovlin

12.00 – 12.30 Liver, GI tract, cardiac aspects

Speaker TBC

12.30 – 12.45 Anaemia& iron deficiency

Dr. Claire Shovlin

12.45 – 13.00 Q & A

13.00 – 14.00 Lunch

Sesssion 3

14.00 – 14.30 Cerebral & spinal manifestations

Dr. Karel ter Brugge

14.30 – 15.00 Nosebleeds, telangiectases of the mouth & skin manifestations

Dr. Urban Geisthoff

15.00 – 15.15 Antibiotic prophylaxis and infection

Dr. Luisa Botella

15.15 – 15.30 Cork National HHT Centre – what we do, and why.

Dr. Adrian Brady

15.30 – 15.45 Coffee

Sesssion 4

15.45 – 16.00 Grace Nolan Foundation & HHT International – what’s their role for

the average patient and family

Mr. Mike Nolan / Ms. Marianne Clancy

16.00 – 17.00 Q & A, Round table discussion

Panel of speakers

POSTERS

Genetics and Genotype/Phenotype in HHT

Genotype-phenotype correlation in a national mutation study of Danish patients with


Pernille M. Tørring, Klaus Brusgaard, Lilian Bomme Ousager, Poul Erik Andersen,

Anette D. Kjeldsen.

Consaquinity in HHT- Screening a Family with HHT in Both Parents 0132

Meir Mei-Zahav MD, Hannah Blau MD, Elchanan Bruckheimer MD

Genetic Epidemiology of Hereditary Hemorrhagic Telangiectasia Associated with

Pulmonary Arteriovenous Malformations in Japan 0003

Takanobu Shioya, Masahiro Satake, Atsuyoshi Kawagoshi, Kazuhiro Sato, Masaaki

Sano, Hiroshi Ito

Hereditary Haemorhagic Telangiectasia, an Australian cohort: clinical and investigative

features 0095

Manju Salaria(2), Jessica Taylor (1), Michael Bogwitz (1), Alicia McLauchlin (1), Ingrid

Winship (1,3)

Identification of novel variants in Argentinean patients which suffer from Hereditary

Hemorrhagic Telangiectasia (HHT) 81

Cajal AR. 1-4, Ramirez CV. 1, Bravo NC. 1, Costa LD. 2, Serra MM. 3-4

Hereditary Haemorrhagic Telangiectasia in North African and Sub-Saharan patients 116

Canzonieri C. (1), Ornati F. (2), Matti E. (3), Chu F. (3), Manfredi G. (4), Olivieri C. (1),

Buscarini E. (4), Pagella F. (3), Danesino C. (1) on behalf of HHT-NET

Capillary microscopy in hereditary hemorrhagic telangiectasia: a prospective study of 44

patients 122

S. Rivière (1), E.Marnas (2) , A. Khau Van Kien (2), JP Laroche(2) , B Lorcerie(3) , I

Quere(2)

"SEARCH FOR GENETIC MODIFYING FACTORS FOR HEPATIC VASCULAR

MALFORMATIONS IN HHT 64

Giraud S(1), Dupuis-Girod S(2), Bardel-Danjean C(3), Carette MF (4), Gilbert-

Dussardier B(5), Riviere S(6), Saurin JC(7), Eyries M(8), Kitzis A (9), Decullier E(10),

Lesca G(1), Calender A(1)

"Association of Variants in Inflammatory Genes with Lesion Burden in Familial CCM1

124

Hélène Choquet1, Ludmila Pawlikowska1, Jeff Nelson1, Amy Akers2, Beth Baca3,

Blaine Hart4, Leslie Morrison3, Helen Kim1 for the Brain Vascular Malformation

“Hereditary Haemorrhagic telangiectasia in Las Palmas (Canary Islands) Spain” 0074.

C. Vázquez, A. Santana, L. Recio, C. Bernabéu, LM Botella.

“A Whole Exome Search for Additional HHT Genes” 0011.

Carol J. Gallione, Elizabeth T. Cirulli, Kevin Shianna , J.K. Ploos van Amstel , T.G.W.

Letteboer, Nadia Prigoda-Lee, Diane Rushlow, Regan Klatt, Michelle Letarte, C.J.J.

Westermann, Douglas A. Marchuk

Cellular and molecular involvement in HHT and related pathologies

Evidence for a compromised immune system in a Spanish cohort with Hereditary

Hemorrhagic Telangiectasia 0073

L Ojeda-Fernández1,2, R Zarrabeitia2,3, MM Serra4, L Recio-Poveda1, C Bernabéu1,2,

LM Botella1,2

"Characterization of circulating endothelial cells in Hereditary Haemorrhagic

Telangiectasia" 105

"P. Suppressa1, G.M. Lenato1, P. Lastella1, V. Liso2, A. Mestice2, C. Margiotta1, E.

Dani1, L. Scagliusi1, A. Mazzocca1, C. Sabbà1

Expression of Endoglin isoforms in the myeloid lineage and their role during ageing and

macrophage polarization (53)

M Aristorena, FJ Blanco, ML Ojeda-Fernandez, M de las Casas-Engel, E Gallardo-Vara,

A Corbi, LM Botella, C Bernabeu

Central Nervous System involvement and treatment in HHT

Clinico-radiological characteristics of primary and secondary neurological manifestations

in a large cohort of HHT patients 0056

M. Gallea (1), P. Favrole (1), B. Marro (2), M. Hermier (3), E. Decuiller (4,6), M.F.

Carette (2,7), J. Dupuis-Girod (5,6), S. Alamowitch (1,7)

Molecular diagnostics, markers and epidemiology for HHT

Molecular and genetic heterogeneity in HHT: The results of 12 years of DNA diagnostics

in the Netherlands. 0112

T.G.W. Letteboer, J.J.Mager, R.J. Snijder, A.J.M. van Erkel, C.J.J. Westermann, J.K.

Ploos van Amstel

Antiangiogenic therapies in HHT and outcomes

Bevacizumab pharmacokinetics influences cardiac output and epistaxis in hereditary

hemorrhagic telangiectasia (HHT) 0071

N. Azzopardi1, S. Dupuis-Girod2, D. Ternant1,3, A.E. Fargeton2, Isabelle Ginon4,

Frédéric Faure5, Evelyne Decullier6, Marie-France Carette7, Brigitte Gilbert-

Dussardier8, Pierre-Yves Hatron9, Pascal Lacombe10, Bernard Lorcerie11, Sophie

Rivière12, Romain Corre13, S. Bailly4, G. Paintaud1,3

Electrical stimulation of single mural cell visualized by fluorescent microscopy as a

valuable tool for HHT high output screening drugs 0068

JérémyThalgott, Damien Dos-Santos-Luis, Laurent Venance, Franck Lebrin.

Efficacy of BaZedoxifene in the treatment of Hereditary Hemorrhagic Telangiectasia.

Clinical effects and expression analysis. 78

R Zarrabeitia, L Ojeda-Fernández, V Albiñana, C Bernabéu, LM Botella

Local administration of Bevacizumab: a therapeutic option in HHT? 148

"Thomas Kühnel, Christian Rohrmeier

Hepatic involvement in HHT

Abdominal Involvement in Hereditary Hemorrhagic Telangiectasia (HHT): a pictorial

review. 0049

Mostafa El Hajjam, Jacques Sellier, Stephen Binsse, Mourad Bensalah, Thierry Chinet,

Joëlle Roume, Augustin Ozanne, Isabelle Bourgault, Gilles Lesur, Jean-Hugues Blondel,

Alexandre Cordier, Sandra Blivet, Carole Fagnou, Marcel Bonay, Carma Karam, Agnès

Nicod-Tran, Sophie Chagnon, Mélanie Eyries, Laurent Gouya, Pascal Lacombe.

Diagnostic performance of Doppler ultrasound for the diagnosis of hepatic vascular

involvement in HHT patients 80

Mariana Kucharczyk 1 3 4, Bruno Ferreyro 2 4, Ezequiel Levy Yeyati 1 3, Noelia Napoli

1, Federico Angriman 2 4, Ricardo Garcia Monaco 1 3, Marcelo Serra 2 3 4

Pulmonary involvement: PAVMs and pulmonary hypertension in HHT

Diagnostic accuracy of the 100% oxygen method in detecting pulmonary right-to-left

shunts compared to transthoracic contrast echocardiography. 0015

S. Velthuis(1), VMM. Vorselaars(1), CJJ. Westermann(2), RJ. Snijder(2), JJ. Mager(2),

MC. Post(1)

Hemoptysis in HHT: a single symptom, various mechanisms. A Pictorial Review 18

Jacques Sellier, Mostafa El Hajjam, Stephen Binsse, Thierry Chinet, Joëlle Roume,

Augustin Ozanne, Isabelle Bourgault, Gilles Lesur, Jean-Hugues Blondel, Alexandre

Cordier, Sandra Blivet, Carole Fagnou, Marcel Bonay, Carma Karam, Agnès Nicod-Tran,

Mélanie Eyries, Laurent Gouya, Sophie Chagnon, Pascal Lacombe.

Embolisation of Pulmonary Arteriovenous Malformations (PAVMs) Improves Quality of

Life in Patients with HHT 25

Blivet S, Cobarzan D, Beauchet A, Blondel JH, Bonay M, Bourgault I, Fagnou C, Gouya

L, Lesur G, Ozanne A, Roume J, Lacombe P, Chinet Th

PAVM embolization using overlay roadmap guidance 44

A.L. Diederik MD, M.J.L. van Strijen MD PhD, D.A.F. van den Heuvel MD, M. van

Leersum MD, J.A. Vos MD PhD

Recanalization after Pulmonary Arteriovenous Malformation (PAVM) Embolization 91

A.L. Diederik MD*, J.J. Mager MD PhD**, D.A.F. van den Heuvel MD*, R.J. Snijder

MD**, J.A. Vos MD PhD*

Preliminary results of the PIRANA Trial 45

A.L. Diederik MD*, J.J. Mager MD PhD**, D.A.F. van den Heuvel MD*, M.J.L. van

Strijen MD* PhD, R.J. Snijder MD**, J.A. Vos MD PhD*

Morphological change of the Amplatzer Vascular Plug II in pulmonary arteriovenous

malformations – does size and shape matter? 23

L Ling, K Patatas, G J Robinson

Treatment effectiveness of pulmonary arteriovenous malformation with Amplatzer

Vascular Plug IV in patients with hereditary hemorrhagic telangiectasia 90

Rabellino JM¹, Peralta O¹, Levy Yeyati E², Gentile E², Ulla M², Garcia Monaco R¹, Serra

MM³

Transesophageal echocardiography as part of the screening for pulmonary arteriovenous

malformations in HHT 60

Urban Geisthoff, Stephan Weise, Jens Üner, Heinz-Werner Angenendt, Steffen Maune

Direct Hemodynamic Effect of Pulmonary Arteriovenous Malformation Embolisation 31.

"V.M.M. Vorselaars, S. Velthuis, J.J. Mager, R.J. Snijder, W.J. Bos, J.A. Vos, M.J.L.

van Strijen, M.C. Post"

Ischaemic stroke risk increases with the severity of pulmonary arteriovenous

malformations 36

Shovlin CL, Livesey JA, Santhirapala V, Tighe HC, and Jackson JE

Pulmonary arteriovenous malformation and embolic complications in adult patients with

Hereditary Hemorrhagic Telangiectasia: a cross sectional study 0001

"Federico Angriman MD (1), Bruno Ferreyro MD (1), Esteban Javier Wainstein MD (2),

Marcelo Martin Serra MD (3).

The Amplatzer Vascular Plug II – A safe and effective occluder of pulmonary

arteriovenous malformations. 24

L Ling, K Patatas, G J Robinson

Follow-up of the pulmonary right-to-left shunt with transthoracic contrast

echocardiography in hereditary hemorrhagic telangiectasia 30

"Veronique M.M. Vorselaars, Sebastiaan Velthuis, Johannes J. Mager, Repke J. Snijder,

Martijn C. Post"

Estimated Pulmonary Artery Systolic Pressure in a group of 105 HHT patients discloses

differences in patients carrying ACVRL1 or ENG mutations. 111

F. Ornati (1), C. Canzonieri (2), L. Lanzarini (1), F. Pagella (3), E. Matti (3) , F. Chu (3),

G. Manfredi (4), E. Buscarini (4), M. Comelli (5), C. Danesino (2), C. Olivieri (2) on

behalf of HHT-NET

Impact of Pulmonary Arteriovenous Malformations (MAVPs) on Pulmonary Function in

Patients with HHT 26

Rotenberg C, Blivet S, Cobarzan D, Beauchet A, Binsse S, Bonay M, Blondel JH,

Bourgault I, Cordier A, Fagnou C, Gouya L, Lesur G, Ozanne A, Retory Y, Roume J,

Lacombe P, Chinet Th

Epistaxis and gastrointestinal bleeding in HHT

FIRST PREVALENCE REPORT OF ALLERGY MANIFESTATIONS IN HHT

POPULATION 0084

Serra1 MM, Zarrabeitia2 R, Ojeda-Fernández3 L, Benito1 HJ, Bernabeu3 C Maritano

Furcada1 J, Botella3 LM

EFFICACY OF THALIDOMIDE IN THE TREATMENT OF SEVERE RECURRENT

EPISTAXIS IN HEREDITARY HEMORRHAGIC TELANGIECTASIA (HHT): ONGOING

RESULTS OF A PROSPECTIVE STUDY 110.

Carlo Luigi Balduini 1, Francesca Bellistri 1, Fabio Pagella 2, Francesco Chu 2, Elina

Matti 2, Giuseppe Spinozzi 2, Federica Ornati 3, Cecilia Canzonieri 4, Carla Olivieri 4,

Cesare Danesino 4, Marco Benazzo 2, Rosangela Invernizzi 1

Heyde's syndrome and hereditary hemorrhagic telangiectasia: report of three cases 87

Carrillo PA1,2,3, Causada Calo N2,3 ,Elizondo MC2,5, Serra MM1,2,4

LASER ENDOSCOPIC SURGERY FOR CHRONIC EPISTAXIS IN HEREDITARY

HEMORRHAGIC TELANGIECTASIA 89

Urquiola FA (1,3), Lijdens Y (1,3), Serra MM (2,3,4)

The Centre for Rare Disorders services for the HHT group 4

Gunvor A. Ruud and Kristin Iversen

Hereditary hemorrhagic telangiectasia (HHT) IN URUGUAY 146

R Mezzano, Lemos F, Tiscornia A, Pisano S, B Boggia

Customized nasal breathing tubes as an alternative to Young´s procedure in HHT

patients with Epistaxis - preliminary results 143

B. J. Folz, A. M. Chirtesiu, C. G. Konnerth

NASAL HYGIENE EDUCATION AND EPISTAXIS MANAGEMENT: NURSING

INTERVENTION FOR HHT PATIENTS 127

R. Pantalone, E. Leek, J. Lee, M.E. Faughnan

NARROW BAND IMAGING (NBI): FIRST IMPRESSION ABOUT ITS USE IN THE

STUDY OF NASAL TELANGIECTASIAS IN PATIENTS AFFECTED BY HHT 109

Francesco Chu 1, Fabio Pagella 1, Elina Matti 1, Giuseppe Spinozzi 1, Dario Zaccari 1,

Carla Olivieri 2, Federica Ornati 3, Elisabetta Buscarini 4, Cesare Danesino 2 on behalf

of HHT-NET

The Relationship of Time and Ambient Air Quality to Epistaxis Severity Scores in


"Christian A. Merlo 1,2, Roger Peng 2, Jeffrey B. Hoag 3, Sally Mitchell 1, Gina

Robinson 1, Douglas D. Reh 1, Peter B. Terry 1"

Septodermoplasty in HHT: a modified technique. 43

Joanne Rimmer (1) & Valerie J Lund (1,2)

Endoglin, ALK1 and Smad4 in TGF-beta and BMP pathways

Endothelial cells derived from HHT1 patient specific induced pluripotent stem cells

(iPSCs) show reduced endoglin (ENG) protein levels and altered downstream signaling

0079

Konstantinos Gkatzis (1), Valeria Orlova (1,2), Christian Freund (1), Peter ten Dijke (2),

Frans Disch (3), Kees Westermann (3), Hans-Jurgen Mager (3), Christine Mummery (1)

ALK-1 deficiency is associated to alterations in arterial pressure regulation 82

González-Núñez M., Oujo B., Pérez-Barriocanal F., López-Novoa JM.

Alteration in Endoglin-Related Angiogenesis in Refractory Cytopenia with Multilineage

Dysplasia 85

Monica del Rey1,2, Miguel Pericacho2,3, Soraya Velasco3, Eva Lumbreras1,2, Jose

Miguel Lopez-Novoa 2,3, Jesus Maria Hernandez-Rivas1,2,4, Alicia Rodriguez-

Barbero2,3

Endoglin Haploinsufficiency Promotes Fibroblast Accumulation during Wound Healing

through Akt Activation 88

Pericacho M, Velasco S, Prieto M, Llano E, López-Novoa JM, Rodríguez-Barbero A

Pediatrics and natural history of HHT

ASSESSING HHT CLINICAL DIAGNOSTIC CRITERIA IN CHILDHOOD - THE

ISRAELI NATIONAL CENTER EXPERIENCE 0129

M Mei-Zahav, N Goldschmidt, S Metzger, E Yaniv, H Blau, E Brockheimer

HHT Center of Excellence at Johns Hopkins Hospital –Organization, Screening, and

Treatment Results in Children and Adults 2009-2013 (121)

Faheem Ul Haq, MD; Gina Robinson, RN; Christian A. Merlo, MD; Joseph M. Collaco,

MD; Peter Terry, MD; Sally E. Mitchell, MD.

Comorbidities in HHT patients with Epistaxis 145

B. J. Folz, A. M. Chirtesiu, C.-G. Konnerth

Patients´ Associations Workshop

Consequences of HHT on working life 61

Urban Geisthoff, Ali Al-Habib, Lars Hoffmanns, Steffen Maune

10th ANNIVERSARY OF THE HHT UNIT IN SIERRALLANA HOSPITAL (SPAIN)

0077

R Zarrabeitia1, V Diez1, J Bueno1, JA Parra2,, J Zarauza1, A Fontalba2, B Señaris1, M

Bustamante2, J Jordá2, C Menéndez1, JL Fernández Forcelledo1, J Calvo1, R Megía2, J

Rodríguez Iglesias2, C Morales2, L Botella3

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