The Fourth Cardiff Cardiovascular Genetics Symposium

“Current Trends in Diagnostics and Therapies”

21-22 November 2013, Cardiff, UK

Day 1	21 November 2013

0800	Registration and coffee

0900	Welcome

Professor Julian Sampson, Head of the Institute of Medical Genetics, Cardiff University

0905	Introduction

Professor Dhavendra Kumar, Institute of Medical Genetics, Cardiff University

Session I	Cardiovascular Developmental Disorders

0915	Clinical utility of animal models of cardiovascular development

Professor Robert Hinton, Cincinnati, USA

0945	Molecular diagnosis for CHDs

Professor Judith Goodship, Newcastle ,UK

1015	Managing an adult with CHD/National guidelines for adult CHD/GUCH

Dr Helen Wallis, UHW, Cardiff

1045-1115	Coffee

1115 Plenary Lecture

High risk pregnancy with inherited cardiac diseases

Professor Catherine Nelson-Piercy, Imperial College, London

Session II	Pregnancy and Inherited Cardiac Disease

1200	Managing aortic disease in pregnancy

Dr Julie De Backer, Ghent University Hospital, Belgium

1230	Pregnancy complicated with cardiomyopathy

Dr Julie McGouhgran, Queensland genetic Service, Brisbane, Australia

1300	Inherited rhythm disorder during pregnancy

Dr Elijah Behr, St George’s Medical School, London

1330-1430	Lunch

Session III	Heart Rhythm Disorders

1430	Genomic basis of complex arrhythmic disorders

Dr Pier Lambiase, The Heart Hospital, London, UK

1500	Next generation sequencing diagnosis of inherited cardiac disorders

Dr Lorenzo Monserrat, Spain

1530	Recent trends in the management of inherited arrhythmic disorders

Prof. Clifford Garratt, Manchester (TBC)

Tea break

Session IV	Disorders of Cardiac Muscle

1630	Diagnostic dilemmas and controversies for inherited cardiomyopathies

Professor Perry Elliott, ESRC The Heart Hospital, London

1700	Current trends in managing metabolic heart rate

Dr Duncan Cole, UHW, Cardiff, UK

1730 Recent tends in imaging for cardiomyopathies

Dr Andrew Wood, UHW, Cardiff, UK

1800	Close of Day One

1900 Drinks Reception followed by Conference Dinner

Day 2	22 November 2013

0830	Registration and coffee

Session V: Surgical approach to ICCs

0900 Plenary Lecture

Surgical interventions for inherited aortic conditions- current practice and new developments

Professor Tom Treasure, University College Hospital, London

0940	Paediatric Cardiac Transplantation for inherited cardiomyopathies

Laura Zahavich, The Hospital for Sick Children, Toronto, Canada

Session VI	Open Presentations I

1000	Paralogue Annotation: a new approach to accurately identify pathogenic genetic variants in patients with Inherited Cardiac Conditions

James Ware, NIHR Royal Brompton Cardiovascular Biomedical Research Unit, London

1015	A review of new evidence for variant pathogenicity - the impact of variant re-classification

Karen McGuire, Molecular Genetics Laboratory, Churchill Hospital, Oxford

1030	The Molecular Dissection of Dilated Cardiomyopathy.

Sarah Reid, Molecular Genetics Laboratory, Churchill Hospital, Oxford

1045	The Phenotypic Spectrum of Titin Truncations in Health and Disease

Angharad Roberts, NIHR Royal Brompton Cardiovascular Biomedical Research Unit, London

1100	Elastin in inherited cardiovascular disorders – stretching the associated phenotypes

Ruth Newbury-Ecob, Department of Clinical Genetics, St Michael’s Hospital, Bristol

1115- 1145	Coffee break

Session VII	Open Presentations II

1145	Fifteen year follow-up of mortality in a founder ARVC cohort after ICD therapy

Kathy A Hodgkinson, Faculty of Medicine, Memorial University, Newfoundland, Canada

1200	Yield of 15 years of cardiogenetic testing: contribution of family history

Simone de Haij, Department of Clinical Genetics, Academic Medical Centre, Amsterdam

1215 Informed Consent? The Minefield of Complex Results

Kim Clarke, Clinical Genetics, Liverpool Women’s Hospital, Liverpool

1230	Unusual presentations of thoracic aortic aneurysm in children

Marlies Kempers, Department of Genetics, Radboud Univeraity Medical Centre, Nijmegen

1245	Sudden Cardiac Death: Diagnostic effectiveness of Molecular Autopsy in a Multidisciplinary Team Setting

John C S Dean, Department of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen

1300-1400 Lunch break

Session VIII	Novel Therapies for Inherited Cardiovascular Conditions

1400	Anti-sense oligonucleotide therapy

Dr Annemieke Aartsma-Rus, Leiden, Netherlands

1430	Stem Cell Therapy for Inherited Cardiovascular Conditions

Dr Matthew Daniels, The John Radcliffe Hospital, Oxford, UK

1500	New interventional therapeutic approaches for Inherited Cardiovascular Conditions

Dr Zaheer Yousef ,University Hospital of Wales, Cardiff, UK

1530 Vote of Thanks/ Close of Meeting

Approved applied for from the

Royal College of Physicians, London

Meeting supported by: