Programme may subject to minor changes
The Second Cardiff Symposium on
Clinical Cardiovascular Genetics
23-24 November 2009
Monday 23 November
09.00 – 9.45
9.45
Registration & Coffee
Welcome & Introduction
Professor Julian Sampson, Institute Medical Genetics, Cardiff
9.50
Keynote Lecture
Genetically determined cardiovascular disease – challenges for the future
Professor Peter Weissberg, Medical Director, British Heart Foundation
Session I - Congenital Heart Disease
Chair- Dr Sally Davies, Consultant in Clinical Genetics, IMG, Cardiff
10.35
Congenital heart disease- clinical spectrum and genetics
Dr. Jamie Bentham, Section of Molecular Cardiology, Wellcome Centre for Human
Genetics, Churchill Hospital, Oxford.
11.05
Cardiac phenotypes in RAS/MAPK/PTPN related multiple malformation
syndromes
Professor Mike Patton, St.George’s, London
11.35 – 12.00
12.00
Coffee
Cardiac manifestations in TBX gene family syndromes
Dr Ruth Newbury-Ecob, Clinical Genetics Unit, Bristol Children’s Hospital, Bristol
12.30
Imaging in congenital heart disease- from foetus to late childhood
Dr Orhan Uzun, Paediatric Cardiology, University Hospital of Wales, Cardiff
13.00
Management of congenital heart disease- transition from childhood to grown
ups
Dr Graham Stuart, Bristol Children’s Hospital, Bristol
13.30 – 14.30
Lunch/ Poster viewing
Session II- Marfan Syndrome and Related Disorders
Chair- Professor Peter Weissberg, Medical Director, BHF, UK
14.30
Marfan Syndrome- challenges in diagnosis and management
Dr John Dean, Clinical Genetics Unit, Aberdeen
15.00
Cardiac phenotypes in inherited connective tissue disorders
Professor Ann de Paepe, Centre for Medical Genetics, Ghent, Belgium
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Thoracic and abdominal aortic aneurysms
15.30
Professor Peter Harris, UCL, London
16.00 – 16.30
Tea/ Poster viewing
Session III- Metabolic Disorders
Chair- Professor.Julian Halcox, Professor of Cardiology, Cardiff University
16.30
Familial Hypercholesterolaemia - The NICE way forward?
Dr Michael Wright, Consultant Clinical Geneticist, Newcastle upon Tyne
17.00
Mitochondrial heart disease-spectrum and challenges
Dr Michael Christiansen, Copenhagen, Denmark
17.30
Dealing with metabolic heart diseases
Dr Graham Shortland, Consultant Paediatrician & Lead-Metabolic Medicine, UHW
18.00
Close
18.00pm Drinks reception
19.30pm Symposium Dinner
Tuesday 24 November
8.30-9.00
Registration and Coffee
Challenges of Sudden Cardiac Death – What is new?
9.00
Keynote Lecture
Dr Perry Elliott, Heart Hospital, UCLH, London
Session IV- Inherited Cardiomyopathies
Chair – Professor Clifford Garratt, Professor of Cardiology, University of Manchester
Inherited cardiomyopathies- genotype to phenotype
9.45
Professor William McKenna, The Heart Hospital, London
The Cardiac Pathologist and Sudden Cardiac Death
10.15
Dr Mary Sheppard, Royal Brompton Hospital, London
Managing heart failure- genetics perspectives
10.45
Professor Eloisa Arbustini, San Matteo Hospital, Pavia, Italy
11.15– 11.40
Tea/Coffee
Session V- Inherited Arrhythmias
Chair- Professor Mark Rees, Director, Institute of Life Sciences, Swansea University
11.40
Genes to Clinic: The paradigm of catecholaminergic polymorphic ventricular
tachycardia (CPVT)
Professor Alan Williams, Wales Heart Research Institute, Cardiff University, Cardiff
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12.10
Management approaches in familial arrhythmias
Professor Clifford Garratt, Manchester
12.40
Genetics of drug induced arrhythmias
Dr Elijah Behr, St George’s Hospital, London
13.10– 14.00
Lunch
Session VI- Services for Inherited Cardiovascular Conditions
Chair- Dr Annie Procter, Lead- All Wales Medical Genetics Service, Cardiff
14.00
Inherited Cardiovascular Conditions in the UK- Report of the working group
Dr Hilary Burton, Public Health Genetics Foundation, Cambridge
14.30
Molecular diagnostic service in cardiovascular genetics- the Dutch experience.
Professor Arthur Wilde, Academic Medical Centre, Amsterdam
15.00
Genetic counselling in clinical cardiovascular genetics
Dr Siv Fokstuen, Medical Genetics, Geneva, Switzerland
15.30
Social and ethical challenges in clinical cardiovascular genetics
Professor Angus Clarke, Institute of Medical Genetics, Cardiff
16.00
Specialist ‘Inherited cardiovascular genetics services’ - what lies ahead?
Dr Paul Brennan, Northern Genetic Service, Newcastle upon Tyne
16.30
Summing up, Vote of thanks & Close
Course Director:
Dr Dhavendra Kumar, Consultant in Clinical Genetics, Lead- Cardiovascular Genetics, All Wales Medical Genetics Service,
Institute of Medical Genetics, Cardiff.
Tel. 02920 744 037; Email: kumard1@cardiff.ac.uk
Faculty:
Dr Dhavendra Kumar, Institute of Medical Genetics,,Cardiff
Dr Annie Procter, Lead - AWMGS, Inst. Med. Genetics, Cardiff
Professor Julian Sampson, Head - Institute of Medical Genetics, Cardiff University
Professor Mark Rees, Institute of Life Sciences, Swansea University
Dr. Sally Davies, Institute of Medical Genetics, Cardiff
Dr Perry Elliott, The Heart Hospital, UCL, London
Dr Paul Brennon, Northern Genetics Service, Inst of Human Genetics, Newcastle upon Tyne
Professor Clifford Garratt, Department of Cardiology, University of Manchester
Dr Elijah Behr, Cardiovascular Medicine, St. George’s Hospital, London
Organised by:
The Wales Gene Park in consultation with the

All Wales Medical Genetics Service, Cardiff and Vale NHS Trust.

Institute of Medical Genetics, Cardiff University

Wales Heart Research Institute, Cardiff University

Cardiac Networks Co-ordinating Group
Enquiries and Registration
Angela Burgess, Education Officer, The Wales Gene Park, Cardiff University
Email: burgessam@cardiff.ac.uk
Tel. 029 2068 7658
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