Vrijeme:22. & 23.03.2013.

TimePetak/ Friday 15:00 - 19:00Subota/ Saturday 9:00- 18:00

MjestoHrvatski liječnički dom, HLZ, Zagreb, Šubićeva 9

Ven’ueCroatian Medical Association, Zagreb, Šubićeva 9

OrganizatorHrvatsko društvo za pedijatrijsku kardiologiju i reumatologiju, HLZ-aHrvatsko društvo za humanu genetiku HLZ-a

Organiser:Croatian Association for Pediatric Cardiology and Rheumatology, Croatian Society for Human Genetic, Croatian Medical Association

GENETIKA U PEDIJATRIJSKOJ KARDIOLOGIJI I REUMATOLOGIJI

GENETICS IN PEDIATRIC CARDIOLOGY AND RHEUMATOLOGY

Simpozij s međunarodnim sudjelovanjem

Symposium with international participation

Uvod Introduction

Genetika je svakodnevno prisutna u poslu pedijatrijskih kardiologa i reumatologa i sve smo svjesniji te činjenice. Zahvaljujući novim spoznajama promijenio se i način razmišljanja o srčanim i reumatskim bolestima u djece. Genetika je sve prisutnija kada promišljamo o uzrocima, mehanizmima nasljeđivanja kao i mogućnostima liječenja pojedinih bolesti. Sve je veći broj prikaza slučajeva, rasprava i znanstvenih radova u kojima se etiopatogeneza bolesti dovodi u vezu s genetikom. Uz ranije korištene metode za otkrivanje aneuploidija i delecijskih sindroma danas se sve više koriste novije dijagnostičke metode koje omogućuju otkrivanje manjih promjena (mikrodelecije, mutacije, translokacije, amplifikacije).Kada se zapitamo što smo u svojoj državi napravili na ovom planu, čini se da je odgovor prilično razočaravajući. Iako je kod nas do sada publicirano nekoliko članaka iz epidemiologije prirođenih srčanih grješaka (koja je esencijalno vezana uz genetsku osnovu) kao i pojedinačni prikazi pojedinih delecija i mutacija te nekoliko znanstvenih radova iz područja pedijatrijske reumatologije, nije bilo sistematskog razmatranja genetike u okviru našeg Društva. Svrha ovog simpozija jest sabrati dosadašnja saznanja o genetici u pedijatrijskoj kardiologiji i reumatologiji kao i upoznati se s novim suvremenim mogućnostima implementacije genetike u naš klinički i znanstveni rad. Stoga smo ujedinili snage našeg društva s aktivnim članovim društva za humanu genetiku HLZ i dobili podršku nekih istaknutih inozemnih predavača. Uvjereni smo da na taj način možemo obogatiti naše znanje na ovoj razini i još se jednom družiti u ugodnoj radnoj atmosferi.

We are becoming increasingly aware of the everyday presence of genetics in the work of pediatric cardiologists and rheumatologists. New realizations have also changed the way of thinking about cardiac and rheumatic diseases in children. Genetics is increasingly present in reflecting upon the causes, inheritance mechanisms, but also treatment possibilities for particular diseases. Number of case reports, discussions and articles relating etiopathogenesis of diseases with genetics is also constantly increasing. Previously used methods for deletions and aneuploidies detection are supplied by new diagnostic methods which enable detection of smaller chromosomal changes (microdeletions, mutations, translocations, amplifications). If one asked himself what we have done in this field in our country, I believe the answer would be quite disappointing. Although we have published several articles related to the epidemiology of congenital heart diseases (essentially relying on the genetic basis), case reports on deletions and mutations, as well as several scientific articles from the field of paediatric rheumatology, genetics has not yet been systematically approached within our Society. The purpose of this symposium is to summarize the existing knowledge of genetics in paediatric cardiology and rheumatology as well as to introduce new modern possibilities of implementing genetics in our clinical and scientific work. In an effort to achieve these goals, our Society has combined forces with active members of Croatian Society of Human Genetics of the Croatian Medical Association and has also received backing from several distinguished foreign lecturers. We are confident that the pleasant working atmosphere of the symposium will lead to enhancing our knowledge to a new level.

Prof dr sci Ivan Malčić Prof dr sci Ingeborg Barišić

15:00 Opening ceremony

Ivan Malčić, President of Croatian Association for Pediatric Cardiology and RheumatologyIngeborg Barišić, President of Croatian Society for Human Genetic

PROGRESS IN GENETIC AND DEVELOPMENTAL BIOLOGY OF CONGENITAL HEART DISEASES

Voditelj/ Chairman: Ingeborg Barišić, Ivan Malčić

15:10- 15:40Classification of congenital heart diseases toward etiopathogenetic mechanisms and importance of epidemiology in genetic considerationIvan Malčić

15:40- 16:10Genetic diagnostics and counselling in pediatric cardiology and cardiovascular researchesHeide Seidl

16:10- 16:40MLPA (Multiplex Ligation- dependent Probe Amplification) in diagnostics of congenital heart defectsIngeborg Barišić

16:40- 17:00 Three basic levels of genetic disorders in pediatric cardiologySanda Huljev Frković

17:00- 17:30 Break

FUNDAMENTALS OF GENETICS IN PEDIATRIC RHEUMATOLOGY

Voditelj/ Chairman: Marija Jelušić, Ivan Krešimir Lukić

17:30- 18:00 Genetics of childhood rheumatic disease: an introductionAlberto Martini

18:00- 18:30From gene mutation to inflammation: and overview on the pathogenesis of autoinflammatory diseasesMarco Gattorno

18:30- 19:00 High Throughput Pediatric Rheumatology Ivan Krešimir Lukić

Petak, 22.03.2013 Friday, 22.03.2013

Subota, 23.03.2013 Saturday, 23.03. 2013

ANEUPLOIDIES, DELETIONS AND CONGENITAL HEART DISEASESVoditelj/ Chairman: Heide Seidl, Ivo Barić

9:00-9:15Morphological and genetic differences of atrioventricular septal defect in patients with and without Down syndromeTomica Božić

9:15-9:30Microdeletion of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects – our experiencesDorotea Bartoniček, Sanda Huljev Frković, Ivan Malčić et al.

9:30- 9:45 Clinical and molecular analysis of patients with Williams-Beuren syndromeNeven Čače, Aleksandar Ovuka

9:45-10:00Supravalvular aortic stenosis and peripheral pulmonary stenosis in family with balanced translocation T(7;14) and break point within the elastin gene regionDaniel Dilber, Ivan Malčić et al.

10:00-10:15 Hypoplastic left heart syndrome- genetic aspects of disease Andrea Dasović Buljević

10.15-10:30 Coarctation of the aorta in children with Turner syndrome Dražen Belina

10:30-10:45 Cardiomyopathies associated with inherited metabolic diseasesIvo Barić

10.45-11.30 Break

GENETICS IN PEDIATRIC RHEUMATOLOGYVoditelj/ Chairman: Marco Gattorno, Marija Jelušić

11:30- 11:45Osteoblastogenesis from synovial fluid-derived cells is related to the type and severity of juvenile idiopathic arthritisElvira Lazić Mosler

11:45- 12.00 Cytokine regulation of inflammation and osteoclastogenesis in arthritisDanka Grčević

12.00-12.15The inverse relationship of the soluble receptor for advanced glycation endproducts (sRAGE) to HMGB1 in children with systemic lupus erythematosus Marija Jelušić Dražić

12.15- 12:30 HMGB-1, S100A12, and RAGE as biomarkers of juvenile idiopathic arthritisDubravka Bobek

12:30-12:45Carrier rate of MEFV gene mutations in Central European and Balkan healthy populationsNataša Toplak

12:45-13:00 Neonatal lupus syndrome, cardiologic or rheumatologic syndrome – genetic aspects of disease, Sanja Dorner

13:00-15:00 Break

Subota Saturday

MOLECULAR GENETICS, CASE REPORTS

Voditelj/ Chairman: Dalibor Šarić, Kristina Crkvenac

15:00- 15:10 Mowat- Willson syndromeHrvoje Kniewald

15:10- 15:20 Barth syndromeMarija Vidaković

15:20- 15:30 Coffin Lowry syndromeŽeljka Mustapić

15:30- 15:40 Ellis van Creveld syndromeAndrea Dasović Buljević

15:40- 15:50 Noonan syndromeGabrijela Rendulić Wolf

15:50- 16:00

Role of the fetal echocardiography in detection of chromosomopathies- case report of triploidyTonković Đurišević I, Crkvenac Gornik K, Lasan R, Letica Lj, Mikloš M, Huljev Frković S, Elveđi Gašparović V, Malčić I, Begović D

16:00- 16:30 Break

Voditelj/ Chairman: Vojko Rožmanić, Sanja Dorner

16:30- 16:40Connective tissue diseases of cardiovascular system- case report of a patient with Loeys- Dietz syndromeŠarić Dalibor

16.40- 16:50Case report: periodic fever – Familiar Mediterranean Fever, PFAPA or other syndrome Bilić Čače I, Rožmanić V, Babić-Božović I, Banac S, Čače N

16:50-17:00R202Q polimorphism of MEFV gene in a family with Familiar Mediterranean Fever (FMF)Marko Barešić

17:00-17:10 PAPA or SAPHO syndrome in a 16 year old boyIva Rukavina

17:10-17:20 Autosomal dominant spondyloarthropathy: a differential diagnosis of severe polyarticular type of juvenile idiopathic arthritisMarijan Frković

Predavači Lecturers

Ivo Barić, Klinika za pedijatriju KBC ZagrebMarko Barešić, Klinika za unutarnje bolesti KBC ZagrebIngeborg Barišić, Klinika za dječje bolesti ZagrebDorotea Bartoniček, Klinika za pedijatriju KBC Zagreb Dražen Belina, Klinika za kardijalnu kirurgiju KBC ZagrebDubravka Bobek, Zavod za fizikalnu i rehabilitacijsku medicinu i reumatologiju, KB DubravaTomica Božić, Klinika za pedijatriju KB MostarIva Bilić Čače, Klinika za pedijatriju KBC RijekaNeven Čače, Klinika za pedijatriju KBC RijekaAndrea Dasović Buljević, Klinika za pedijatriju KBC ZagrebDaniel Dilber, Klinika za pedijatriju KBC ZagrebSanja Dorner, Klinika za pedijatriju KBC OsijekMarco Gattorno, Pediatria II Reumatologia, (EULAR Centre of Excellence in Rheumatology 2008-13) Gaslini Institute, Genoa, ItalyDanka Grčević, Zavod za fiziologiju i imunologiju, Medicinski fakultet ZagrebMarijan Frković, Klinika za pedijatriju KBC ZagrebSanda Huljev Frković, Klinika za pedijatriju KBC Zagreb Marija Jelušić Dražić, Klinika za pedijatriju KBC ZagrebHrvoje Kniewald, Klinika za pedijatriju KBC ZagrebElvira Lazić Mosler, Laboratorij za molekularnu imunologiju, Medicinski fakultet ZagrebIvan Krešimir Lukić, Partek Inc., St. Louis (MO), USA, Katedra za istraživanja u biomedicini i zdravstvu, Medicinski fakultet SplitIvan Malčić, Klinika za pedijatriju KBC ZagrebAlberto Martini, University of Genoa, Director of Pediatria II Reumatologia (EULAR Centre of Excellence in Rheumatology 2008-13) Gaslini Institute, Genoa, Italy, President of the Pediatric Rheumatology European Society (PRES),Željka Mustapić, Klinika za pedijatriju KBC ZagrebGabrijela Rendulić Wolf, Klinika za pedijatriju KBC ZagrebIva Rukavina, Klinika za pedijatriju KBC ZagrebHeide Seidl, Institut für Humangenetik der TU München, Trogerstr. 32, München, GermanyDalibor Šarić, Klinika za pedijatriju KBC ZagrebIvana Tonković Đurašević, Klinika za pedijatriju KBC ZagrebNataša Toplak, Pediatrična klinika, UKC LjubljanaMarija Vidaković, Klinika za pedijatriju KBC Zagreb

Predavanja se održavaju na hrvatskom i engleskom jeziku, a dijapozitivi su na engleskom jeziku.Lectures will be held on Croatian and English language, slides should be in English.

Sudjelovanje se boduje prema pravilniku HLK: Kotizacija: 400 kn za sudionike 200 kn za specijalizante za predavače besplatno za umirovljenike i studente

Kontakt adrese: Kotizacija se može platiti kod ulaza ili unaprijed andrea.db.savoia@gmail.com broj računa: HLZ 2360000-1101214818 ,ivan.malcic1@gmail.com poziv na broj 268-390ingeborg.barisic@kdb.hrmarija.jelusic.drazic@gmail.com