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International Clinical Cardiovascular Genetics Conference 2018 | Conference Handbook | 1

International Clinical Cardiovascular Genetics

Conference 2018Brisbane Convention and Exhibition Centre

23 – 25 May 2018

Conference Handbook


Sponsors

Platinum

Silver

Bronze

Lanyard Sponsor

Speaker Sponsor

Session Sponsor

Educational Day Program Sponsor

Royal Brisbane and Women’s HospitalMetro North Hospital and Health Service


Welcome 4

General Information 5

Speakers 7

Program – Wednesday 23 May, Educational Day 12

Program – Thursday 24 May 14

Program – Friday 25 May 17

Posters 22

Sponsors and Exhibition 25

Contents

Steering CommitteeJohn Atherton ConvenorJulie McGaughran ConvenorChris Semsarian Chair, Scientific Program Committee

Scientific Program CommitteeChris Semsarian ChairJohn AthertonMichael FietzEric HaanJodie InglesJulie McGaughranJonathan Skinner Chair, Educational DayJitendra VohraGerald Watts

Conference Managers

Postal Address: PO Box 90-040, Auckland 1142, New ZealandStreet Address: 31C Normanby Road, Mt Eden, Auckland 1024, New Zealand

Australian Freephone: 1800 193 405Telephone (NZ): +64 9 360 1240Email: [email protected]


Welcome

Dear Friends and Colleagues,

It gives us great pleasure to welcome you to Brisbane on behalf of the Scientific Program Committee for the International Clinical Cardiovascular Genetics Conference 2018.

Cardiovascular genetics is a rapidly evolving field and of interest to a broad range of clinicians, scientists, counsellors and researchers. The scientific program will highlight the major disease themes of cardiomyopathies, inherited arrhythmogenic disorders, familial dyslipidaemias, arteriopathies and congenital heart disease.

We will showcase the latest in clinical practice and research in this field, including approaches to diagnosis and risk stratification, result interpretation, recent advances in genetic testing platforms, novel therapeutic approaches and the importance of multidisciplinary models of care. On behalf of the Steering Committee, we thank Chris Semsarian and his Scientific Program Committee for bringing together an outstanding program.

We are delighted to welcome international keynote speakers Michael J. Ackerman and Iacopo Olivotto. Michael J. Ackerman is Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota, USA. Iacopo Olivotto is Director of the Cardiomyopathy Unit in Cardiology at Careggi University Hospital in Florence, Italy.

This Conference has received wide-reaching support. We would like to acknowledge the Cardiac Society of Australia and New Zealand as the host of this Conference and the Human Genetics Society of Australasia for their endorsement. This conference would not be possible without the generous support from our sponsors, which is gratefully acknowledged. We encourage you to visit the Exhibition area where industry representatives will be able to provide education around their products.

We hope that this Conference provides an encouraging platform to grow a dedicated forum, internationally renowned for highlighting cutting edge research and showcasing clinical advancements in cardiovascular genetics.

Thank you for your support and we hope you enjoy the Conference!

John Atherton Convenor

Julie McGaughranConvenor

Chris Semsarian Chair, Scientific Programme Committee


General Information

Accommodation For those registrants who have reserved hotel accommodation through The Conference Company, please ensure that accounts are settled in full prior to your departure and that the appropriate deposit has been deducted from your account. If you need to change or amend your accommodation reservation, please contact the Registration and Information Desk and the staff will contact the hotel for you.

AppDownload the Brisbane Convention and Exhibition Centre app from the App Store or Google Play. Once downloaded, open the app and select “Your Event App”. Select ICCG 2018 from the options under “View all Apps” or enter “ICCG18” under “Type Code”.

Badges As a security requirement please wear your name badge at all times within the Brisbane Convention and Exhibition Centre for access to sessions. Car Parking The Brisbane Convention and Exhibition Centre has undercover parking available; access is via Merivale Street. Early Bird Parking is available Monday – Friday for $16, enter before 9am and exit between 3 – 6pm. Casual rates apply outside of these hours, up to a maximum of $30 for the day.

CateringOn Thursday and Friday morning tea, afternoon tea and lunch will be provided in the exhibition area, located in the Boulevard Foyer. On Wednesday, afternoon tea will be

provided in the Boulevard Foyer. Lunch is not provided on Wednesday.

Certificate of AttendanceCertificates of Attendance will be emailed to all attendees after the Conference. Please contact your accreditation body for details on how to claim Continuing Professional Development points.HeartOne www.heartone.com.auThe Royal Australian College of Physicians www.racp.edu.auAustralian College of Nursing www.acn.edu.au

Delegate ListThe Delegate List will be held at the Registration and Information Desk. A delegate list will be distributed electronically to all registered attendees and exhibitors after the completion of the Conference.

Disclosure The Cardiac Society of Australia and New Zealand is committed to providing unbiased, balanced and objective educational and scientific programs.

Dress Dress for scientific sessions and the social functions is smart casual.

Duplication, Recording Photography, audio taping, video recording, digital taping or any other form of duplication is strictly prohibited in the Conference rooms.

Medical ServicesThere are emergency medical practices that operate out of hours in easy reach of the Brisbane Convention and Exhibition Centre.


Emergency Medical services are available on a 24-hour, 7-day basis at: Royal Brisbane and Women’s HospitalDr James Mayne BuildingButterfield St Herston, QLD, 4029Phone +61 7 3636 8111

In an emergency please dial 000 for an ambulance, the police or the fire department.

Mobile PhonesPlease respect the presenter and other members of the audience by ensuring your mobile phone is switched off or to silent while you are in sessions.

Registration & Information DeskIf you need information about any aspect of the Conference, please go to the Registration and Information Desk in the Boulevard Foyer of the Brisbane Convention and Exhibition Centre. The desk is open at the following times:

Wednesday 23 May 0900 – 1830hrsThursday 24 May 0700 – 1730hrsFriday 25 May 0630 – 1700hrsTelephone: +61 7 3328 8718

Rental CarsAvis Rent a Car is offering its corporate rates to Conference delegates. Please call the Avis Office and request a quote giving the booking reference number AWD: Z994400. Telephone: 13 63 33.

SmokingPlease note that the Brisbane Convention and Exhibition Centre is a compulsory non-smoking environment. This also applies to all buildings and restaurants in Australia.

Speakers’ PreparationPlease bring your PowerPoint presentation to the Conference on a USB Flash drive. You will need to give this to the AV technician in the room you are presenting in at least 3 hours before your scheduled presentation. The AV technician will copy your presentation onto the Conference computer, and the original will be returned to you. If your presentation contains digital video, please be sure to deliver it to the technician several sessions ahead of your presentation.

Please consult this handbook for your presentation venue. Please arrive at your presentation room at least 10 minutes prior to the start of the session to introduce yourself to the Session Chair, and to familiarise yourself with the venue and its audio-visual system.

Special Dietary RequirementsIf you have advised any special dietary requirements on your registration form, these will have been forwarded to the caterers to prepare special meals for lunches and the social functions. Please ask the waiting staff to bring you your special meal.

Wi-FiWi-Fi is available at no cost, it is designed for web browsing and checking web-based email. Please search for the BCEC connection and then open your internet browser and follow the instructions to connect.


Keynote SpeakersMichael J. Ackerman

Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota, US

Michael J. Ackerman is the Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota. Dr Ackerman received his MD and PhD from the Mayo Clinic School of Medicine and the Mayo Clinic Graduate School of Biomedical Sciences and residency and fellowship training in Pediatric and Pediatric Cardiology in the Mayo Clinic School of Graduate Medical Education. As Director of Mayo’s Genetic Heart Rhythm/Long QT Syndrome Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory, Dr Ackerman strives to fulfill the two-fold objective of medical education and biomedical research as stated by Dr Charles H. Mayo: “to heal the sick and to advance the science.” He has published over 500 articles and chapters across the continuum of basic, translational, and clinical research focusing on the cardiac channelopathies, hypertrophic cardiomyopathy, and sudden death in the young. In 2018, he received the Distinguished Scientist Award from the Heart Rhythm Society. Dr Ackerman has also served as the president of the Sudden Arrhythmia Death Syndromes (SADS) Foundation since 2006. Michael J. Ackerman sponsored by Royal Brisbane and Women’s Hospital.

Iacopo Olivotto

Director of the Cardiomyopathy Unit in Cardiology at Careggi University Hospital in Florence, Italy

Dr Iacopo Olivotto, trained in Florence and London, has pursued a career in Emergency Medicine and subsequently in Cardiology at Careggi University Hospital in Florence, Italy, where he currently serves as Director of the Cardiomyopathy Unit.

Over more than two decades, Dr Olivotto’s main clinical and research interests have included various aspects of cardiomyopathies, with special focus on hypertrophic cardiomyopathy (HCM), ranging from Clinical predictors of disease progression and outcome, arrhythmias, characterization of the end-stage phase, medical and surgical management, imaging studies of coronary flow reserve with PET, functional and prognostic relevance of magnetic resonance studies, echocardiographic screening and early HCM diagnosis, studies of pre-hypertrophic phenotype, genetic studies addressing the prevalence and characterization of HCM-causing mutations, genotype-phenotype correlations, family studies, developmental aspects of HCM, molecular studies of myofilament contractility, correlation of in-vitro findings with clinical and echocardiographic variables. These lines of research are being carried out in cooperation with a rapidly growing multidisciplinary team in Florence, as well as distinguished institutions in Europe and the USA. He is a co-founder of the ShaRe International Registry for Cardiomyopathies (www.theshareregistry.org) and the promoter of several international symposia on genetic heart diseases.

Recently, he has been involved in promoting randomized trials in cardiomyopathies based on translational approaches to the core pathophysiological mechanisms of disease. Dr Olivotto has co-authored over 150 papers in peer-reviewed journals and serves as reviewer for the main international cardiovascular journals.

He is an active member of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.


Speaking Faculty

Michael J. AckermanMayo Clinic, MN, USA

John AthertonRoyal Brisbane & Women’s Hospital, QLD

Richard BagnallCentenary Institute, NSW

Matt BellgardQueensland University of Technology, QLD

Bruce BennettsThe Children’s Hospital at Westmead, NSW

Gillian BlueHeart Centre for Children, NSW

Johan DuflouUniversity of Sydney, NSW

Diane FatkinVictor Chang Cardiac Research Institute, NSW

Michael FietzPathWest Laboratory Medicine, WA

Eleni Giannoulatou Victor Chang Cardiac Research Institute, NSW

Eric HaanSA Pathology, SA

Haris HaqqaniPrince Charles Hospital, QLD

James HudsonThe University of Queensland, QLD

Jodie InglesCentenary Institute, NSW

Richmond JeremyUniversity of Sydney, NSW

Edwin KirkSydney Children’s Hospital, NSW

Karam KostnerUniversity of Queensland, QLD

Andre La GercheSt Vincent’s Hospital, VIC

Marco LarobinaRoyal Melbourne and Epworth Hospitals, VIC

Ivan MaccioccaVictorian Clinical Genetics Services, VIC

Julie McGaughranGenetic Health Queensland, QLD

Stephen NichollsSAHMRI, SA

Iacopo OlivottoCareggi University Hospital in Florence, Italy

Nicholas PachterGenetic Services of Western Australia, WA

William ParsonageRoyal Brisbane and Women’s Hospital, QLD

Andreas PflaumerThe Royal Children’s Hospital Melbourne, VIC

Hariharan RajuConcord Hospital, NSW

Hamish ScottCentre for Cancer Biology, SA

Chris SemsarianCentenary Institute, NSW

Andrew SinclairMurdoch Children’s Research Institute, VIC

Jonathan SkinnerStarship Children’s Hospital, NZ

Kelly SmithUniversity of Queensland, QLD

David SullivanRoyal Prince Alfred Hospital, NSW

Karin van Spaendinck-ZwartsRoyal Brisbane and Women’s Hospital, QLD

Peter van TintelenAcademic Medical Center, Amsterdam, Netherlands

Jamie VandenbergVictor Chang Cardiac Research Institute, NSW

Gerald WattsRoyal Perth Hospital, WA

David WinlawHeart Centre for Children, NSW

Dominica ZentnerRoyal Melbourne Hospital, VIC


Michael J. AckermanMayo Clinic, MN, USA

John AthertonRoyal Brisbane & Women’s Hospital, QLD

Jackie CrawfordAuckland Hospital, NZ

Jodie InglesCentenary Institute, NSW

Edwin KirkSydney Children’s Hospital, NSW

Ivan MaccioccaVictorian Clinical Genetics Services, VIC

Educational Day Speakers

Julie McGaughranGenetic Health Queensland, QLD

Chris SemsarianCentenary Institute, NSW

Jonathan SkinnerStarship Children’s Hospital, NZ

David SullivanRoyal Prince Alfred Hospital, NSW

Laura YeatesCentenary Institute and Royal Prince Alfred Hospital, NSW

Dominica ZentnerRoyal Melbourne Hospital, VIC

More information about speakers at the Conference can be found on the app.

Aging

MALE FABRY CARDIOMYOPATHY FEMALE FABRY CARDIOMYOPATHY FABRY


WorkShop Variant Classification for Sarcomere GenesChairs: Jodie Ingles and Richard Bagnall Boulevard Auditorium

Time presentation Speaker

0900-0930 Arrival and registration

0930-1130 Workshop Jodie Ingles and Richard Bagnall

Note: Lunch not provided on Wednesday

PROGRAM WEDNESDAY 23 MAY 2018


SeSSion 1 Cardiac genetics for beginners: Introductory program in inherited cardiovascular conditions for cardiologists, trainees and allied health staffChair: Jonathan Skinner Boulevard Auditorium


1200-1230 Arrival and registration

1230-1235 Introduction: Why we need to know this stuff Jonathan Skinner (NZ)

1235-1300 Talk like a geneticist Edwin Kirk (NSW)

1300-1325 Genetics and Genetic Testing 101: How do you spell D-N-A? Michael J. Ackerman (USA)

1325-1340 Clinical conditions: The cardiomyopathies Chris Semsarian (NSW)

1340-1355 Clinical conditions: The cardiac ion channelopathies Jonathan Skinner (NZ)

1355-1410Clinical conditions: Familial Hypercholesterolaemia and Lipoprotein a: Double Jeopardy!

David Sullivan (NSW)

1410-1425 Aortopathies Dominica Zentner (VIC)

1425-1455 Afternoon break Boulevard Foyer


SeSSion 2 Preparation and Counselling for a genetic testChair: Jonathan Skinner Boulevard Auditorium


1455-1510What the cardiologist must do before considering a genetic test

John Atherton (QLD)

1510-1525Counselling prior to testing, counselling for probabilities, and when not to do a genetic test

Jodie Ingles (NSW)

1525-1540 Dealing with the result and the clinical fallout Julie McGaughran (QLD)

SeSSion 3 Questions and Discussion and illustrative cases with audience participation Chairs: Michael J. Ackerman, Jodie Ingles and Jonathan Skinner Boulevard Auditorium


1540-1600 Case 1 Ivan Macciocca (VIC)

1600-1620 Case 2 Jackie Crawford (NZ)

1620-1640 Case 3 Laura Yeates (NSW)

1640-1700 Final Discussion and Closing remarks

1800-1900 Welcome Reception Boulevard Foyer

23 MAY 2018


SeSSion 1 opening session Chairs: John Atherton and Julie McGaughran Boulevard Auditorium


0800-0815 WelcomeJohn Atherton (QLD) and Julie McGaughran (QLD)

0815-0830 Official opening

Keith McNeil, Assistant Deputy Director-General and Chief Clinical Information Office, Clinical Excellence Division, Department of Health

0830-0900 CV Genetics in Australia Chris Semsarian (NSW)

0900-0930 Latest in genetic testing for LQTS Michael J. Ackerman (USA)

0930-1000 Can some cardiomyopathies be channelopathies? Iacopo Olivotto (Italy)

1000-1030 Morning break Boulevard Foyer

PROGRAM THURSDAY 24 MAY 2018

SeSSion 2 Clinical genetics of inherited cardiomyopathiesChairs: Jitendra Vohra (VIC), William Wang (QLD) Boulevard Auditorium Session sponsored by PA Research Foundation


1030-1050 Clinical features of inherited cardiomyopathies Chris Semsarian (NSW)

1050-1105 Actionability of genetic testing in HCM Iacopo Olivotto (Italy)

1105-1125 Nonfamilial cardiomyopathies Jodie Ingles (NSW)

1125-1140 TTN truncating variants in DCM Diane Fatkin (NSW)

1140-1155 Whole genomes, exomes or panels? Richard Bagnall (NSW)


SeSSion 3 Familial hypercholesterolaemiaChairs: Christian Hamilton-Craig (QLD), Gerald Watts (WA) room B1


1030-1045 Update on the value of genetic testing for FH David Sullivan (NSW)

1045-1100 The Evolving Model of Care for FH Gerald Watts (WA)

1100-1115Update on molecular therapies for severe dyslipidaemia

Stephen Nicholls (SA)

1115-1130 Is Lp(a) ready for prime time use in the clinics? Karam Kostner (QLD)

1130-1145 New registry platforms for genetic lipid disorders Matt Bellgard (QLD)

1145-1330 Lunch Boulevard Foyer

24 MAY 2018

SeSSion 4 What’s new in inherited arrhythmia syndromes?Chairs: Hariharan Raju (NSW), Julie McGaughran (QLD) Boulevard Auditorium


1330-1350Current state of genetic testing for Brugada syndrome

Michael J. Ackerman (USA)

1350-1410 The New Zealand experience of LQTS genetic testing Jonathan Skinner (NZ)

1410-1430 CPVT and other arrhythmia disorders Andreas Pflaumer (VIC)

1430-1450Computational modelling in inherited arrhythmia syndromes

Jamie Vandenberg (NSW)


SeSSion 5 Clinical, genetic and functional aspects of congenital heart disease Chairs: David Winlaw (NSW), James Morwood (QLD) room B1


1330-1400 Update in congenital heart disease David Winlaw (NSW)

1400-1415Whole genome approaches to congenital heart disease

Eleni Giannoulatou (NSW)

1415-1430 Genetic counselling for complex inherited diseases Gillian Blue (NSW)

1430-1445 iPSC models of congenital heart disease James Hudson (QLD)

1445-1500 Zebrafish models of congenital heart disease Kelly Smith (QLD)


SeSSion 6 Determining pathogenicity and genotype-phenotype correlation Chairs: Chris Semsarian (NSW), Paul James (VIC) Boulevard Auditorium


1530-1550 Key determinants of pathogenicityPeter van Tintelen (Netherlands)

1550-1605 Gene reporting from the laboratory perspective Michael Fietz (WA)

1605-1620 The perspective of the clinical geneticist Eric Haan (SA)

1620-1640 Issues of discordance: the ClinGen experience Jodie Ingles (NSW)

1640-1655 An approach to reclassification Hamish Scott (SA)

1900-2330 Conference DinnerLevel 12 Rooftop, Rydges South Bank Hotel

24 MAY 2018


SeSSion 7 The great debate and oral abstract finalists Chairs: Julie McGaughran and Chris Semsarian Boulevard Auditorium


0830-0915Debate: Direct to Consumer Testing in the cardiac sphere

FOR: Edwin Kirk AGAINST: Ivan Macciocca

0915-0930Genomic sequencing 15,000 healthy elderly individuals: Implications for clinical genetics

Paul Lacaze (VIC)

0930-0945Role of microRNA in the cardiovascular manifestations in Marfan syndrome

Elizabeth Robertson (NSW)

0945-1000Can a vitamin prevent congenital heart disease? Congenital NAD deficiency and niacin supplementation

Annabelle Enriquez (NSW)

1000-1030 Morning break Boulevard Foyer

PROGRAM FRIDAY 25 MAY 2018

SAnofi BreAkfAST SeSSion room B1


0645-0700 Arrival and breakfast

0700-0815Genetic Cardiomyopathies - Diagnosis and Management

James Moon (UK)


SeSSion 8 Arrhythmogenic cardiomyopathies and sudden death Chairs: Andrew Martin (NZ), Jitendra Vohra (VIC) Boulevard Auditorium


1030-1045 Clinical aspects of arrhythmogenic cardiomyopathies Hariharan Raju (NSW)

1045-1100 Key role of the forensic pathologist Johan Duflou (ACT)

1100-1115 Genetic testing in arrhythmias and sudden death Chris Semsarian (NSW)

1115-1130 Arrhythmias in athletes Andre La Gerche (VIC)

1130-1145 What else could it be? (phenocopies) John Atherton (QLD)

SeSSion 9 familial aortopathiesChairs: Eric Haan (SA), Nicholas Pachter (WA) room B1


1030-1045 Medical management of aortopathies Richmond Jeremy (NSW)

1045-1100 Latest genetic testing approaches to aortopathies Bruce Bennetts (NSW)

1100-1115 Updates in Loey Dietz Syndrome Dominica Zentner (VIC)

1115-1130 Aortopathies in pregnancy William Parsonage (QLD)

1130-1150 Surgical approaches to aortic diseases Marco Larobina (VIC)

1150-1330 Lunch Boulevard Foyer

25 MAY 2018


SeSSion 10 National collaborations and case presentations Chairs: Jodie Ingles and Chris Semsarian Boulevard Auditorium


1330-1350 The Australian Genomics Initiative Andrew Sinclair (VIC)

1350-1400 The Cardiovascular Genetics FlagshipChris Semsarian (NSW) and Julie McGaughran (QLD)

1400-1430Case Presentation #1(arrhythmia/SCD)

Panel Members:Michael J. Ackerman (USA)Eric Haan (SA)Johan Duflou (ACT)Haris Haqqani (QLD)Jonathan Skinner (NZ)Ivan Macciocca (VIC)

1430-1500Case Presentation #2(cardiomyopathy)

Panel Members:Iacopo Olivotto (Italy)Diane Fatkin (NSW)Julie McGaughran (QLD)John Atherton (QLD)Peter van Tintelen (Netherlands)Nicholas Pachter (WA)Karin van Spaendinck-Zwarts (QLD)


SeSSion 11 final thoughts on genetic heart disease Chairs: John Atherton and Julie McGaughran Boulevard Auditorium


1530-1605Will genotype guide management of inherited cardiomyopathies?

Iacopo Olivotto (Italy)

1605-1640 What explains the rest of LQTS? Michael J. Ackerman (USA)

1640-1650 The Final Word Chris Semsarian (NSW)

1650-1700 Official close of meeting John Atherton (QLD) and Julie McGaughran (QLD)

25 MAY 2018


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3. Australian Stroke Foundation 2017 Clinical Guidelines for Stroke (informme.org.au/Guidelines/Clinical-Guidelines-for-Stroke-Management-2017)

©2018 Medtronic. All Rights Reserved. www.medtronic.com.auMedtronic Australasia Pty Ltd. 2 Alma Road, Macquarie Park NSW 2113

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Find out more about Amgen Cardiovascular at stand 16


Posters

posterBoard

NumberTitle Author, State /

Country

P01Clinical Outcome and Phenotypic Expression in PRKAG2 Cardiomyopathy

Hisham Ahamed (India)

P02Familial Non-Syndromic Thoracic Aortic Aneurysm and Dissections (TAAD) with an MYH11 Mutation


P03Clinical Profile of a Large Family With Familial Hypertrophic Cardiomyopathy and Sudden Cardiac Death with Alpha-Tropomyosin Mutations ( TPM1 )


P04A Case Of Diagnosis Of Loeys-Dietz Syndrome Based On Genetic Aortopathy Panel Testing

Hassan Al Marashi (QLD)

P07Managing the Unexpected: A Retrospective Review of Off-Phenotype Genetic Test Results from Cardiac Gene Panels.

Emily Allen (VIC)

P08Investigating the Genetic and Molecular Mechanisms of Inherited Heart Disease with Patient-Derived Induced Pluripotent Stem Cell- Cardiomyocyte Models

Samantha Barratt-Ross (NSW)

P09Clinical and Genetic Challenges in Adult-Onset Left Ventricular Non-Compaction

Samantha Barratt-Ross (NSW)

P10Psychological adaptation to genetic information following sudden cardiac death in the young

Jodie Ingles (NSW)

P11 The phenotypic spectrum of truncating variants in Desmoplakin Charlotte Burns (NSW)

P12The effects of obesity in an adult zebrafish model of dilated cardiomyopathy (DCM)

Natalie Case (NSW)

P13 Late presentation of Danon disease Gemma Correnti (SA)

P14The diagnostic odyssey for Fabry Disease: Ten years experience in testing.

Julia Dobbins (SA)

P15Clinical, Genetic and Cellular Basis of Arrhythmogenic Right Ventricular Cardiomyopathy

Matisse Fox (QLD)

P16Arg442Cys MHY7 Mutation with marked Phenotypic Expression - not just a variant of unknown significance

Christian Hamilton-Craig (QLD)

P17MHY11 mutation as a rare cause of inherited Thoracic Aortic Aneurysm/Dissection syndrome

Christian Hamilton-Craig (QLD)

P19A Gene-Weighted Approach to Interpretation Improves Identification of Disease-Causing Rare Variants in Dilated Cardiomyopathy

Claire Horvat (NSW)

P20 Use of zebrafish in functional genomics of cardiovascular disease. Inken Huttner (NSW)


posterBoard

NumberTitle Author, State /

Country

P21Counselling challenges in families with truncating titin mutations and dilated cardiomyopathy.

Renee Johnson (NSW)

P22Rapid control of torsades storm by atrial pacing in a teenager with LQT2 (KCNH2 gene mutation)

Naychi Lwin (QLD)

P23 Potential genetic modifiers of heritable thoracic aortic aneurysms Cassandra Malecki (NSW)

P24Patients with inherited cardiac conditions maintain a good quality of life even with limited access to specialised cardiogenetics services

Jessica Marathe (SA)

P25A Needs Analysis of Parents Who Have Lost a Child to Sudden Cardiac Death

Jodie Ingles (NSW)

P26Genetic contribution of the common MYBPC3 25bp deletion in an Australian HCM cohort

Natalie Nowak (NSW)

P27Risk of sudden cardiac death: Patients with inherited heart conditions and their clinicians are not necessarily on the same page

Claire O'Donovan (NZ)

P28The IGF gene-network identifies extreme Systolic Blood Pressure profile amongst adolescents

Priya Kumari Parmar (NZ)

P29Aortopathy in Bicuspid Aortic Valve is Associated with Altered MicroRNA Expression

Stefanie Portelli (NSW)

P30A prospective evaluation of whole-exome sequencing in idiopathic dilated cardiomyopathy and related phenotypes

Jay Ramchand (VIC)

P31Does genetic predisposition to dilated cardiomyopathy increase susceptibility to chemotherapy-induced cardiomyopathy?

Inken Huttner (NSW)

P32 Ethnic differences in hypertrophic cardiomyopathy.Caitlin Semsarian (NSW)

P33Functional characterisation of MYBPC3 extended splice site variants in hypertrophic cardiomyopathy

Emma Singer (NSW)

P34Cardiac manifestations in two female siblings with apparent X-linked NDUFB11 deficiency

Maria Oh (USA)

P35A year in review: Royal Melbourne Hospital Cardiac Genetics Clinic, 2017

Tina Thompson (VIC)

P37Genetic testing in Maori and Polynesian probands with long QT syndrome renders a lower yield than in those of European or other descent

Annika Winbo (NZ)

P38Ethnicity influences mutation spectrum in long QT syndrome in New Zealand

Annika Winbo (NZ)


ExhibitionThe Exhibition is located in the Boulevard Foyer of the Brisbane Convention and Exhibition Centre. The Steering Committee would like to invite all delegates to visit the exhibition during their time at the Conference to view the products and services on display and to meet the exhibition representatives who are in attendance.

Exhibition Operating HoursWednesday 23 May 1800 – 1900hrsThursday 24 May 0830 – 1700hrsFriday 25 May 0830 – 1530hrs

The following exhibitors and locations are correct as at the date of publication of the Handbook

Company Sponsor Level StandSanofi Genzyme Platinum Sponsor 1Amgen Australia Pty Ltd Bronze Sponsor 16Avant Mutual Group Limited Bronze Sponsor 18Medtronic Bronze Sponsor 17Abbott Medical Australia Pty Ltd Exhibitor 20Blueprint Genetics Inc. Exhibitor 13Genome.One Exhibitor 15The Cardiac Society of Australia and New Zealand Exhibitor 3

Exhibitors at a Glance

Floor plan

Regi

stra

tion


Sponsors

Sanofi Genzyme STAnD 1Contact: Zoe PavyAddress: Building D, 12-24 Talavera Road, Macquarie Park, NSW 2250, AustraliaTelephone: +61 2 8666 2451Email: [email protected]: www.genzyme.com.au

A LEADER IN SPECIALTY CARESanofi Genzyme is the specialty care global business unit of Sanofi, focused on rare diseases, multiple sclerosis, oncology and immunology. We help people with debilitating and complex conditions that are often difficult to diagnose and treat. We are dedicated to discovering and advancing new therapies, providing hope to patients and their families around the world.

Our ambition is to be the industry leader in specialty care. We currently provide more than 20 treatments to patients, with many potential new therapies beingstudied in clinical trials and in Sanofi laboratories.

Detailed Sponsor List

Platinum Sponsor

Life Healthcare Contact: Adham KabbaraAddress: Level 8, 15 Talavera Road, North Ryde, NSW 2113, AustraliaTelephone: 1800 060 168Email: [email protected]: www.lifehealthcare.com.au

One of Australia’s leading independent medical device distributors. Our strength lies in offering the scale of a multinational without being constrained by a single foreign parent company.

LifeHealthcare was formed in 2006 with the vision to create a leading Australian and New Zealand Medical Device company that was capable of delivering the best technologies through the best people in the industry.

Silver Sponsor


Bronze Sponsors

Amgen Australia Pty Ltd STAnD 16Contact: Dr Ana SvenssonAddress: Level 7, 123 Epping Road, North Ryde, NSW 2113, AustraliaTelephone: +61 2 9870 1322Email: [email protected]: www.amgen.com

Amgen is committed to unlocking the potential of biology for patients suffering fromserious illnesses by discovering, developing, manufacturing and delivering innovativehuman therapeutics. This approach begins by using tools like advanced human geneticsto unravel the complexities of disease and understand the fundamentals of humanbiology.

Amgen focuses on areas of high unmet medical need and leverages its expertise to strivefor solutions that improve health outcomes and dramatically improve people’s lives. Abiotechnology pioneer since 1980, Amgen has grown to be one of the world’s leadingindependent biotechnology companies, has reached millions of patients around the worldand is developing a pipeline of medicines with breakaway potential.

For more information, visit www.amgen.com and follow us on www.twitter.com/amgen.

Avant Mutual STAnD 18Contact: Michael CarrAddress: Level 17, 345 Queen Street, Brisbane, QLD 4000, AustraliaTelephone: +61 7 3309 6817Email: [email protected] Website: www.avant.org.au

Avant has a proud heritage of protecting the Australian medical profession that spans over 120 years. Established by a small group of doctors as a mutual in 1893, Avant is now Australia’s leading medical defence organisation, representing over 75,000 healthcare practitioners and students across every state and territory.

We have continued to grow and support our members with a range of tailored products and services that are designed to not only to safeguard your career and reputation, but also protect you as an individual, your family and your practice. These products include practice medical indemnity, health, life and income, and travel insurances.


Medtronic STAnD 17Contact: Louise PorterAddress: 2 Alma Road, Macquarie Park, NSW 2113, AustraliaTelephone: +61 2 9857 9000Email: [email protected]: www.medtronic.com.au

As a global leader in medical technology, services and solutions, Medtronic improves the health and lives of millions of people each year. We believe our deep clinical, therapeutic and economic expertise can help address the complex challenges — such as rising costs, aging populations, and the burden of chronic disease — faced by families and healthcare systems today. But, we can’t do it alone.

That’s why we’re committed to partnering in new ways and developing powerful solutions that deliver better patient outcomes.

Founded in 1949 as a medical repair company, we’re now among the world’s largest medical technology, services and solutions companies, employing more than 85,000 people worldwide, serving physicians, hospitals and patients in more than 160 countries. Join us in our commitment to take healthcare Further, Together. Learn more at Medtronic.com.au.

BIOTRONIK Australia Pty Ltd Contact: Vicky SelleckAddress: Level 4, Building 2, 20 Bridge Street, Pymble, NSW 2073Telephone: +61 2 9497 3700Email: [email protected]: www.biotronik.com/en-au

BIOTRONIK is a privately owned, global medical device company, with products and services that save and improve the quality of life for patients suffering from cardiovascular and endovascular diseases. Our research and development of cardiovascular medical devices exemplifies our commitment to maximum safety and top quality, a tradition that we have preserved ever since we developed Germany’s first pacemaker in Berlin in 1963.

Our Cardiac Rhythm Management (CRM) portfolio comprises of implantable pacemakers and defibrillators, leads, accessories and external devices to treat and manage arrhythmia-related diseases.



Session Sponsor

Queensland Genomics health Alliance Address: Mayne Medical School Building, 288 Herston Road, Herston 4006, AustraliaTelephone +61 7 3443 1080Website: www.qgha.org

pA research foundation Contact: Damian ToppAddress: Ipswich Road, Woolloongabba, QLD 4102, AustraliaTelephone: +61 7 3176 7301Email: [email protected]: www.pafoundation.org.au

Avant Mutual Contact: Michael CarrAddress: Level 17, 345 Queen Street, Brisbane, QLD 4000, AustraliaTelephone: +61 7 3309 6817Email: [email protected] Website: www.avant.org.au

Lanyard Sponsor

Speaker Sponsor

Royal Brisbane and Women’s Hospital Contact: Julie McGaughranAddress: Herston, QLD 4029, AustraliaEmail: [email protected]: www.health.qld.gov.au/ghq

Royal Brisbane and Women’s HospitalMetro North Hospital and Health Service


Exhibitors

Blueprint Genetics inc. STAnD 13 Contact: Elvira Zilliacus Address: 1268 Missouri Street, San Francisco, CA 94107, USATelephone: +61 425 841 468Email: [email protected] Website: www.blueprintgenetics.com

Abbott Medical Australia Pty Ltd STAND 20 Contact: Samantha LombardoAddress: 17 Orion Road, Lane Cove, NSW 2066, AustraliaTelephone: +61 2 9936 1200Email: [email protected]: www.abbott.com

Genome.one STAnD 15 Contact: Nicole SchonrockAddress: 370 Victoria Street, Darlinghurst, NSW 2010, AustraliaTelephone: +61 2 9359 8002Email: [email protected]: www.genome.one

The Cardiac Society of Australia and New Zealand STAND 3Contact: Martha McCallAddress: Suite 4, Level 12, 189 Kent Street, Sydney, NSW 2000, AustraliaTelephone: +61 2 9226 7900Email: [email protected]: www.csanz.edu.auNZ Address: 3rd Floor, 99 The Terrace, Wellington, New ZealandTelephone: +64 4 460 8121Website: www.csanz.edu.au

GENETIC CARDIOMYOPATHIES - DIAGNOSIS AND MANAGEMENT

INVITATION

PROFESSOR JAMES MOON Professor of Cardiology, UCL and Clinical Director Barts Heart Centre, UK

Brisbane Convention & Exhibiton CentreLocation: Room B1Arrival & Breakfast: 6:45 AMSession: 7:00 - 8:00 AMSession close: 8:15 AM

INTERNATIONAL SPEAKER

FRIDAY 25TH MAY 2018

Sanofi-Aventis Australia Pty Ltd trading as Sanofi Genzyme , ABN 31 008 558 807 | P 02 8666 2000 | F 02 8666 3000 Talavera Corporate Centre, Building D, 12-24 Talavera Road, Macquarie Park, NSW 2113 AUSTRALIA, Date of Preparation: March 2018

James is Professor of Cardiology, UCL, Clinical Director of Imaging, Barts Heart Centre, the largest CMR department in the world. He is President of the British Society of CMR and was program chair, EuroCMR 2017.

His research interest is in better understanding heart muscle to improve patient care with techniques such as LGE, T1 and T2 mapping and perfusion mapping.

Last year with his team, they published 42 papers on pubmed.

Moon ICCG Breakfast Symposium Invite.indd 1 19/04/2018 11:14:28 AM

International Clinical Cardiovascular Genetics

Conference 2018Brisbane Convention and Exhibition Centre

23 – 25 May 2018

international clinical cardiovascular genetics … 2018 handbook - final.pdfin an emergency please...

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