By Professor Diane Fatkin

Conference Abstracts

Iglesias CK; Pouliopoulos J; Johnson R; Olsen N; Lee A; Niederer S; Hayward C; Jabbour A; Fatkin D, 2025, 'Atrial Structure and Function in Subjects With DCM-Associated Truncating Titin Gene Variants', in Heart, Lung and Circulation, Elsevier BV, Vol. 34, pp. S111 - S111, http://dx.doi.org/10.1016/j.hlc.2025.06.039

D'Ambrosio P; De Paepe J; Spencer L; Ohanian M; Janssens K; Mitchell A; Rowe S; Young P; Soka M; Johnson R; Yu C; Morris G; Lacaze P; Giannoulatou E; Kistler P; Kalman J; Heidbuchel H; Claessen G; Fatkin D; La Gerche A, 2025, 'Bradycardia and Pauses in Athletes: Prevalence, Mechanisms and Risks', in Heart, Lung and Circulation, Elsevier BV, Vol. 34, pp. S112 - S113, http://dx.doi.org/10.1016/j.hlc.2025.06.040

Gorrie N; Carroll A; Ohanian M; Johnson R; Soka M; Bart N; Fatkin D, 2025, 'The Spatial Distribution and Pathogenicity of Variants in the Human Transthyretin Gene Associated With Amyloidosis', in Heart, Lung and Circulation, Elsevier BV, Vol. 34, pp. S113 - S114, http://dx.doi.org/10.1016/j.hlc.2025.06.041

Kessler Iglesias C; Poliopoulos J; Situ Y; Johnson R; Rigas G; Lord R; Martin D; Hayward C; Fatkin D; Jabbour A, 2024, 'Deep Phenotyping of Obesity Cardiomyopathy', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S180 - S180, http://dx.doi.org/10.1016/j.hlc.2024.06.119

Kessler Iglesias C; Poliopoulos J; Situ Y; Johnson R; Hayward C; Jabbour A; Fatkin D, 2024, 'Early diagnosis of Titin Cardiomyopathy', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S310 - S310, http://dx.doi.org/10.1016/j.hlc.2024.06.401

Spencer L; Janssens K; Mitchell A; Ohanian M; Johnson R; Soka M; Young P; Giannoulatou E; Lacaze P; D'Ambrosio P; Rowe S; Van Puyvelde T; Claessens G; Fatkin D; La Gerche A, 2024, 'Genetic and Echocardiographic Determinants of Atrial Fibrillation in Athletes', in Heart Lung and Circulation, Elsevier, Vol. 33, pp. s129, http://dx.doi.org/10.1016/j.hlc.2024.06.018

Gorrie N; Johnson R; Ohanian M; Soka M; Bart N; Fatkin D, 2024, 'Investigating the Role of Genes and the Environment in Heart Failure With Preserved Ejection Fraction', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S129 - S130, http://dx.doi.org/10.1016/j.hlc.2024.06.019

Gorrie N; Johnson R; Ohanian M; Soka M; Bart N; Fatkin D, 2024, 'Rare Genetic Variants in Heart Failure with Preserved Ejection Fraction (HFpEF)', in Heart, Lung and Circulation, Elsevier BV, Vol. 33, pp. S104 - S105, http://dx.doi.org/10.1016/j.hlc.2024.04.185

Peters S; Yao J; McCall L; Huynh Q; Johnson R; Thompson B; Thompson T; Zentner D; James P; Kalman J; Marwick T; Fatkin D, 2023, 'Environmental Factors Influence the Natural History of Genetic Dilated Cardiomyopathy', in Heart Lung and Circulation, Elsevier, Vol. 32, pp. s113, http://dx.doi.org/10.1016/j.hlc.2023.06.731

Gorrie N; MacDonald P; Sivasubramaniam V; Jabbour A; Muthiah K; Fatkin D; Kotlyar E; Hayward C; Bart N, 2023, 'Prevalence of Incidental Amyloid on Cardiac Explants', in The Journal of Heart and Lung Transplantation, Elsevier, Vol. 42, pp. s427 - s428, http://dx.doi.org/10.1016/j.healun.2023.02.1104

Mitchell A; Janssens K; Johnson R; Ohanian M; Soka M; De Bosscher R; Classens G; Heidbuchel H; Fatkin D; La Gerche A, 2023, 'Prevalence of Rare Genetic Variants in Cardiomyopathy-associated Genes and Association With Cardiac Phenotype in Endurance Athletes', in Heart, Lung and Circulation, Elsevier BV, Vol. 32, pp. S127 - S127, http://dx.doi.org/10.1016/j.hlc.2023.06.759

Adiam D; Berrandou TE; Georges A; Nelson CP; Giannoulatou E; Ma L; Blencowe M; Turley T; Yang M-L; Iismaa S; Tarr I; Muller D; Hesselson S; Junday K; Fatkin D; Combaret N; Saw J; Webb T, 2022, 'GWAS Meta-Analysis in SCAD, a Women Predominant Ischemic Heart Disease, Reveals Common Variants and Genes Related to Artery Integrity and Tissue-Mediated Coagulation', in Circulation, Lippincott, Williams & Wilkins, IL, Chicago, Vol. 146, presented at Scientific Sessions of the American-Heart-Association / Resuscitation Science Symposium, IL, Chicago, 05 November 2022 - 06 November 2022, https://www.ahajournals.org/doi/10.1161/circ.146.suppl_1.12681

Thomas DM, 2022, 'Heritable defects in telomere and mitotic function selectively predispose to sarcomas', in CANCER SCIENCE, WILEY, Vol. 113, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000778583800159&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Butters A; Do J; Stafford F; Krishnan N; Brown J; Hespe S; Richardson E; Bagnall R; Bhaskaran A; Burns C; Driscoll T; Fatkin D; Gray B; Iglesias C; Isbister J; Jabbour A; Johnson R; Kumar S; Leslie F; MacArthur D; Nowak N; Pouliopoulos J; Puranik R; Semsarian C; Sweeting J; Sy R; Ugander M; Yeates L; Ingles J, 2022, 'NSW HEARTS: The NSW Inherited Cardiomyopathy Cohort Study protocol', in Heart, Lung and Circulation, Elsevier BV, Vol. 31, pp. S4 - S4, http://dx.doi.org/10.1016/j.hlc.2022.04.010

Gorrie N; McCaughan G; Carroll A; Jabbour A; Kotlyar E; Fatkin D; Bart N, 2022, 'Role of Endomyocardial Biopsy and Mass Spectrometry for Precision in Cardiac Amyloid Subtyping: A Case Series', in Heart, Lung and Circulation, Elsevier BV, Vol. 31, pp. S99 - S100, http://dx.doi.org/10.1016/j.hlc.2022.06.123

Cannata A; Merlo M; Dal Ferro M; Manca P; Paldino A; Barbati G; Graw S; Bromage D; Johnson R; Roy D; Gigli M; Stolfo D; Abbate A; Parkih V; Ashley E; Lakdawala N; Carr-White G; Fatkin D; Mcdonagh T; Taylor M; Mestroni L; Sinagra G, 2021, '418 Titin mutations and female sex characterize dilated cardiomyopathy in the elderly', in European Heart Journal Supplements, Oxford University Press (OUP), Vol. 23, pp. suab142.006, http://dx.doi.org/10.1093/eurheartj/suab142.006

Tarr I; Hesselson S; Iismaa S; Troup M; Young P; Mishra K; Wong C; Junday K; Humphreys D; Dunwoodie S; Fatkin D; Muller D; Graham RM; Giannoulatou E, 2021, 'Abstract 11949: Disease-Specific and Comorbidity-Related Polygenic Risk in Spontaneous Coronary Artery Dissection', in Circulation, Wolters Kluwer, Vol. 144, pp. a11949 - a11949, http://dx.doi.org/10.1161/circ.144.suppl_1.11949

Santiago C; Huttner I; Fatkin D, 2020, 'Chronic alcohol exposure exacerbates cardiac dysfunction in TTNtv-related dilated cardiomyopathy', in Journal of Molecular and Cellular Cardiology, Elsevier, Vol. 140, pp. 23, http://dx.doi.org/10.1016/j.yjmcc.2019.11.053

Patel P; Ito K; Willcox JAL; Gorham JM; DePalma S; Lam L; Haghighi A; Sharma A; McDonough B; Johnson R; Fatkin D; Seidman C; Seidman J, 2020, 'SEQUENCE VARIANTS IN TITIN CAUSING SPLICING DEFECTS AND CARDIOMYOPATHY: INSIGHTS FOR GENE BASED DIAGNOSIS AND NORMAL PHYSIOLOGY', in Journal of the American College of Cardiology, Elsevier, Vol. 75, pp. 663, http://dx.doi.org/10.1016/s0735-1097(20)31290-0

McGrath-Cadell L; Hesselson S; Iismaa SE; Mishra K; Wong CMY; Fatkin D; Dunwoodie SL; Harvey R; Holloway CJ; Muller DWM; Giannoulatou E; Graham RM, 2019, 'Familial clustering of spontaneous coronary artery dissection', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, FRANCE, Paris, Vol. 40, pp. 3414 - 3414, presented at Congress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, FRANCE, Paris, 31 August 2019 - 04 September 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000507313003083&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Wong G; Nalliah C; Voskoboinik A; Lee G; Prabhu S; Sugumar H; Parameswaran R; Anderson R; McLellan A; Ling L; Morton J; Johnson R; Kistler P; Fatkin D; Kalman J, 2019, 'Genetic Susceptibility to Atrial Fibrillation at the chr 4q25 Locus is Associated with Left Atrial Electrical Remodelling', in Heart, Lung and Circulation, Elsevier BV, Vol. 28, pp. S132 - S132, http://dx.doi.org/10.1016/j.hlc.2019.06.003

Johnson R; Peters S; Ingles J; Correnti G; Ingrey A; Mountain H; Zentner D; Thompson T; Oates E; Ronan A; Pachter N; Haan E; Van Spaendonck-Zwarts K; Semsarian C; McGaughran J; Atherton J; James P; Fatkin D, 2019, 'Penetrance of Dilated Cardiomyopathy in Families with Truncating TTN Variants: a National Perspective', in Heart Lung and Circulation, Elsevier, Vol. 28, pp. s140, http://dx.doi.org/10.1016/j.hlc.2019.06.019

Bagnall RD; Ingles J; Dinger ME; Cowley MJ; Barratt-Ross S; Minoche AE; Lal S; Turner C; Colley A; Rajagopalan S; Berman Y; Ronan A; Fatkin D; Semsarian C, 2018, 'Whole genome sequencing improves genetic testing outcomes in hypertrophic cardiomyopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, ITALY, Milan, Vol. 27, pp. 843 - 844, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018

Huttner I; Wang L; Santiago C; Horvat C; Johnson R; Cheng D; Braet F; Hesselson D; Feneley M; Fatkin D, 2017, 'A Zebrafish Model of a Human Titin-truncating Mutation Exhibits Spontaneous, Age-dependent and Load-exacerbated Dilated Cardiomyopathy', in Heart, Lung and Circulation, Elsevier BV, Vol. 26, pp. S43 - S43, http://dx.doi.org/10.1016/j.hlc.2017.06.002

Wang LW; Keogh AM; Macdonald PS; Jabbour A; Kotlyar E; Feneley MP; Fatkin D; Hayward CS, 2015, 'Right ventricular function is a powerful independent predictor of adverse heart failure outcomes', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, ENGLAND, London, Vol. 36, pp. 830 - 831, presented at Congress of the European-Society-of-Cardiology (ESC), ENGLAND, London, 29 August 2015 - 02 September 2015, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000361205105553&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Johnson R; Stockhammer K; Soka M; Ohanian M; Lam L; Fatkin D, 2014, 'Truncating Titin mutations: Are they a primary cause of dilated cardiomyopathy or a susceptibility factor?', in Heart Lung Circ, Australia, Vol. 23 Suppl 2, pp. e11 - e12, Australia, http://dx.doi.org/10.1016/j.hlc.2014.07.030

Olesen M; Liang B; Soka M; Larsen AP; Knop FK; Wang F; Nielsen JB; Andersen MN; Humphreys D; Mann SA; Vandenberg JI; Svendsen JH; Haunso S; Preiss T; Seebohm G; Olesen S-P; Schmitt N; Fatkin D, 2013, 'TASK-1 potassium channel mutations in atrial fibrillation', in EUROPEAN HEART JOURNAL, OXFORD UNIV PRESS, NETHERLANDS, Amsterdam, Vol. 34, pp. 642 - 642, presented at Congress of the European-Society-of-Cardiology (ESC), NETHERLANDS, Amsterdam, 31 August 2013 - 04 September 2013

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