Fergus Stafford1, Kate Thomson2,3, Alexandra Butters1,4, Jodie Ingles5,6,7. 1. Cardio Genomics Program at Centenary Institute, The University of Sydney, Locked Bag 6, Newtown, NSW, 2042, Australia. 2. Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. 3. Radcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK. 4. Faculty of Medicine and Health, The University of Sydney, Sydney, Australia. 5. Cardio Genomics Program at Centenary Institute, The University of Sydney, Locked Bag 6, Newtown, NSW, 2042, Australia. j.ingles@centenary.org.au. 6. Faculty of Medicine and Health, The University of Sydney, Sydney, Australia. j.ingles@centenary.org.au. 7. Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. j.ingles@centenary.org.au.
Abstract
PURPOSE OF REVIEW: Our knowledge of the genetic basis and molecular pathogenesis of hypertrophic cardiomyopathy (HCM) continues to evolve. We describe the genetic basis of HCM, recent advances in genetic testing and the role of genetics in guiding risk stratification and management, both now and in the future. RECENT FINDINGS: While initially thought to be an exclusively Mendelian disease, we now know there are important HCM sub-groups. A proportion will have sarcomere variants as the cause of their disease, while others will have genetic variants in genes that can give rise to conditions that can mimic HCM. The role of genetics is primarily for cascade genetic testing, though there is emerging evidence of a role for prognosis and patient management. Genetic testing is a useful addition to management. Genotype may play a greater role in risk stratification, management, treatment and prognosis in future, offering improved outcomes for patients and their families with HCM.
PURPOSE OF REVIEW: Our knowledge of the genetic basis and molecular pathogenesis of hypertrophic cardiomyopathy (HCM) continues to evolve. We describe the genetic basis of HCM, recent advances in genetic testing and the role of genetics in guiding risk stratification and management, both now and in the future. RECENT FINDINGS: While initially thought to be an exclusively Mendelian disease, we now know there are important HCM sub-groups. A proportion will have sarcomere variants as the cause of their disease, while others will have genetic variants in genes that can give rise to conditions that can mimic HCM. The role of genetics is primarily for cascade genetic testing, though there is emerging evidence of a role for prognosis and patient management. Genetic testing is a useful addition to management. Genotype may play a greater role in risk stratification, management, treatment and prognosis in future, offering improved outcomes for patients and their families with HCM.
Authors: Jodie Ingles; Charlotte Burns; Richard D Bagnall; Lien Lam; Laura Yeates; Tanya Sarina; Rajesh Puranik; Tom Briffa; John J Atherton; Tim Driscoll; Christopher Semsarian Journal: Circ Cardiovasc Genet Date: 2017-04
Authors: Perry M Elliott; Aris Anastasakis; Michael A Borger; Martin Borggrefe; Franco Cecchi; Philippe Charron; Albert Alain Hagege; Antoine Lafont; Giuseppe Limongelli; Heiko Mahrholdt; William J McKenna; Jens Mogensen; Petros Nihoyannopoulos; Stefano Nistri; Petronella G Pieper; Burkert Pieske; Claudio Rapezzi; Frans H Rutten; Christoph Tillmanns; Hugh Watkins Journal: Eur Heart J Date: 2014-08-29 Impact factor: 29.983
Authors: Kiran Musunuru; Ray E Hershberger; Sharlene M Day; N Jennifer Klinedinst; Andrew P Landstrom; Victoria N Parikh; Siddharth Prakash; Christopher Semsarian; Amy C Sturm Journal: Circ Genom Precis Med Date: 2020-07-23
Authors: Carol Ko; Patricia Arscott; Maryann Concannon; Sara Saberi; Sharlene M Day; Beverly M Yashar; Adam S Helms Journal: Genet Med Date: 2017-06-22 Impact factor: 8.822
Authors: Jodie Ingles; Tanya Sarina; Laura Yeates; Lauren Hunt; Ivan Macciocca; Louise McCormack; Ingrid Winship; Julie McGaughran; John Atherton; Christopher Semsarian Journal: Genet Med Date: 2013-04-18 Impact factor: 8.822
Authors: Carolyn Y Ho; Sharlene M Day; Euan A Ashley; Michelle Michels; Alexandre C Pereira; Daniel Jacoby; Allison L Cirino; Jonathan C Fox; Neal K Lakdawala; James S Ware; Colleen A Caleshu; Adam S Helms; Steven D Colan; Francesca Girolami; Franco Cecchi; Christine E Seidman; Gautam Sajeev; James Signorovitch; Eric M Green; Iacopo Olivotto Journal: Circulation Date: 2018-08-23 Impact factor: 29.690
Authors: Jodie Ingles; Jennifer Goldstein; Courtney Thaxton; Colleen Caleshu; Edward W Corty; Stephanie B Crowley; Kristen Dougherty; Steven M Harrison; Jennifer McGlaughon; Laura V Milko; Ana Morales; Bryce A Seifert; Natasha Strande; Kate Thomson; J Peter van Tintelen; Kathleen Wallace; Roddy Walsh; Quinn Wells; Nicola Whiffin; Leora Witkowski; Christopher Semsarian; James S Ware; Ray E Hershberger; Birgit Funke Journal: Circ Genom Precis Med Date: 2019-02
Authors: Mario Torrado; Emilia Maneiro; Arsonval Lamounier Junior; Miguel Fernández-Burriel; Sara Sánchez Giralt; Ana Martínez-Carapeto; Laura Cazón; Elisa Santiago; Juan Pablo Ochoa; William J McKenna; Luis Santomé; Lorenzo Monserrat Journal: Sci Rep Date: 2022-05-04 Impact factor: 4.996