Simpozij s međunarodnim sudjelovanjem
Symposium with international participation
GENETIKA U PEDIJATRIJSKOJ KARDIOLOGIJI
I REUMATOLOGIJI
GENETICS IN PEDIATRIC CARDIOLOGY AND
RHEUMATOLOGY
Vrijeme:
22. & 23.03.2013.
Mjesto
Hrvatski liječnički dom,
HLZ, Zagreb, Šubićeva 9
Organizator
Hrvatsko društvo za
pedijatrijsku kardiologiju i
reumatologiju, HLZ-a
Hrvatsko društvo za
humanu genetiku HLZ-a
Time
Petak/ Friday 15:00 - 19:00
Subota/ Saturday 9:00- 18:00
Ven’ue
Croatian Medical
Association, Zagreb,
Šubićeva 9
Organiser:
Croatian Association for
Pediatric Cardiology and
Rheumatology, Croatian
Society for Human Genetic,
Croatian Medical Association
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
Petak, 22.03.2013
15:00
Friday, 22.03.2013
Opening ceremony
Ivan Malčić, President of Croatian Association for Pediatric Cardiology and
Rheumatology
Ingeborg 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- 15:40
Classification of congenital heart diseases toward etiopathogenetic mechanisms and
importance of epidemiology in genetic consideration
Ivan Malčić
15:40- 16:10
Genetic diagnostics and counselling in pediatric cardiology and cardiovascular
researches
Heide Seidl
16:10- 16:40
MLPA (Multiplex Ligation- dependent Probe Amplification) in diagnostics of
congenital heart defects
Ingeborg Barišić
16:40- 17:00
Three basic levels of genetic disorders in pediatric cardiology
Sanda 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 introduction
Alberto Martini
18:00- 18:30
From gene mutation to inflammation: and overview on the pathogenesis of
autoinflammatory diseases
Marco Gattorno
18:30- 19:00
High Throughput Pediatric Rheumatology
Ivan Krešimir Lukić
20:00
Dinner
Subota, 23.03.2013
Saturday, 23.03. 2013
ANEUPLOIDIES, DELETIONS AND CONGENITAL HEART DISEASES
Voditelj/ Chairman: Heide Seidl, Ivo Barić
9:00-9:15
Morphological and genetic differences of atrioventricular septal defect in patients with
and without Down syndrome
Tomica Božić
9:15-9:30
Microdeletion of chromosomal region 22q11 in patients with congenital conotruncal
cardiac defects – our experiences
Dorotea Bartoniček, Sanda Huljev Frković, Ivan Malčić et al.
9:30- 9:45
9:45-10:00
10:00-10:15
Clinical and molecular analysis of patients with Williams-Beuren syndrome
Neven Čače, Aleksandar Ovuka
Supravalvular aortic stenosis and peripheral pulmonary stenosis in family with
balanced translocation T(7;14) and break point within the elastin gene region
Daniel Dilber, Ivan Malčić et al.
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 diseases
Ivo Barić
10.45-11.30
Break
GENETICS IN PEDIATRIC RHEUMATOLOGY
Voditelj/ Chairman: Marco Gattorno, Marija Jelušić
11:30- 11:45
Osteoblastogenesis from synovial fluid-derived cells is related to the type and severity
of juvenile idiopathic arthritis
Elvira Lazić Mosler
11:45- 12.00
Cytokine regulation of inflammation and osteoclastogenesis in arthritis
Danka Grčević
12.00-12.15
The inverse relationship of the soluble receptor for advanced glycation endproducts
(sRAGE) to HMGB1 in children with systemic lupus erythematosus (SLE)
Marija Jelušić Dražić
12.15- 12:30
HMGB-1, S100A12, and RAGE as biomarkers of juvenile idiopathic arthritis
Dubravka Bobek
12:30-12:45
Neonatal lupus syndrome, cardiologic or rheumatologic syndrome – genetic aspects of
disease
Sanja Dorner
12:45-15:00
Lunch
Subota
Saturday
MOLECULAR GENETICS, CASE REPORTS
Voditelj/ Chairman: Dalibor Šarić, Kristina Crkvenac
15:00- 15:10
Mowat- Willson syndrome
Hrvoje Kniewald
15:10- 15:20
Barth syndrome
Marija Vidaković
15:20- 15:30
Coffin Lowry syndrome
Željka Mustapić
15:30- 15:40
Ellis van Creveld syndrome
Andrea Dasović Buljević
15:40- 15:50
Noonan syndrome
Gabrijela Rendulić Wolf
15:50- 16:00
Role of the fetal echocardiography in detection of chromosomopathies- case report
of triploidy
Tonković 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
Coffee break
MISCELLANEOUS
Voditelj/ Chairman: Vojko Rožmanić, Sanja Dorner
16:30- 16:40
Connective tissue diseases of cardiovascular system- case report of a patient with
Loeys- Dietz syndrome
Šarić Dalibor
16.40- 16:50
Case report: periodic fever – Familiar Mediterranean Fever, PFAPA or other
syndrome
Bilić Čače I, Rožmanić V, Babić-Božović I, Banac S, Čače N
16:50-17:00
R202Q 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 boy
Iva Rukavina
17:10-17:20
17:30
Autosomal dominant spondyloarthropathy: a differential diagnosis of severe
polyarticular type of juvenile idiopathic arthritis
Marijan Frković
Snack
Predavači
Lecturers
Ivo Barić, Klinika za pedijatriju KBC Zagreb
Marko Barešić, Klinika za unutarnje bolesti KBC Zagreb
Ingeborg Barišić, Klinika za dječje bolesti Zagreb
Dorotea Bartoniček, Klinika za pedijatriju KBC Zagreb
Dražen Belina, Klinika za kardijalnu kirurgiju KBC Zagreb
Dubravka Bobek, Zavod za fizikalnu i rehabilitacijsku medicinu i reumatologiju, KB Dubrava
Tomica Božić, Klinika za pedijatriju KB Mostar
Iva Bilić Čače, Klinika za pedijatriju KBC Rijeka
Neven Čače, Klinika za pedijatriju KBC Rijeka
Andrea Dasović Buljević, Klinika za pedijatriju KBC Zagreb
Daniel Dilber, Klinika za pedijatriju KBC Zagreb
Sanja Dorner, Klinika za pedijatriju KBC Osijek
Marco Gattorno, Pediatria II Reumatologia, (EULAR Centre of Excellence in Rheumatology 2008-13)
Gaslini Institute, Genoa, Italy
Danka Grčević, Zavod za fiziologiju i imunologiju, Medicinski fakultet Zagreb
Marijan Frković, Klinika za pedijatriju KBC Zagreb
Sanda Huljev Frković, Klinika za pedijatriju KBC Zagreb
Marija Jelušić Dražić, Klinika za pedijatriju KBC Zagreb
Hrvoje Kniewald, Klinika za pedijatriju KBC Zagreb
Elvira Lazić Mosler, Laboratorij za molekularnu imunologiju, Medicinski fakultet Zagreb
Ivan Krešimir Lukić, Partek Inc., St. Louis (MO), USA, Katedra za istraživanja u biomedicini i zdravstvu,
Medicinski fakultet Split
Ivan Malčić, Klinika za pedijatriju KBC Zagreb
Alberto 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 Zagreb
Gabrijela Rendulić Wolf, Klinika za pedijatriju KBC Zagreb
Iva Rukavina, Klinika za pedijatriju KBC Zagreb
Heide Seidl, Institut für Humangenetik der TU München, Trogerstr. 32, München, Germany
Dalibor Šarić, Klinika za pedijatriju KBC Zagreb
Ivana Tonković Đurašević, Klinika za pedijatriju KBC Zagreb
Marija 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:
za sudionike
za predavače
Kontakt adrese:
andrea.db.savoia@gmail.com
ivan.malcic1@gmail.com
ingeborg.barisic@kdb.hr
marija.jelusic.drazic@gmail.com
Kotizacija: 400 kn
200 kn za specijalizante
besplatno za umirovljenike i studente
Kotizacija se može platiti kod ulaza ili unaprijed
broj računa: HLZ 2360000-1101214818 ,
poziv na broj 268-390
Sponzori
Sponsors
Udruga Veliko srce
malom srcu
A Big Heart for Little
Heart Association
Veliko srce malom srcu je neprofitna, humanitarna udruga liječnika, zdravstvenog osoblja i
roditelja djece s prirođenim srčanim grješkama i drugim srčanim bolestima. Osnovana je
1994. godine u Zagrebu, kao takva je jedna od najstarijih u Hrvatskoj.
Osnovni su ciljevi Udruge:
•razvijanje svijesti o potrebi ranog utvrđivanja srčanih grješaka;
•potpora njihovom pravodobnom i pravilnom liječenju;
•prikupljanje sredstava za neophodne uređaje, pomagala i lijekove
•osvješćivanje građana o tome što znači biti dijete sa prirođenom srčanom grješkom ili
bolesti, što znači biti njihov roditelj ili liječnik
•pružanje psihološke pomoći roditeljima djece sa srčanim bolestima
A Big Heart For Little Heart is a non-profitable humanitarian association of doctors, medical
staff and parents of children with congenital heart defects and other heart diseases. It was
established in Zagreb in 1994 and is one of the oldest such associations in Croatia.
The main aims of the Association are to:
• develop awareness for the need of early detection of heart defects;
• support appropriate and timely treatment
• raise funds for essential equipment, apparatus and drugs;
• educate citizens of Croatia about being a child with a congenital heart defect or heart
disease and being a parent or the doctor of such children;
• offer psychological support to parents of children with heart defects and heart disease