Jiří Bonaventura1, Patricia Norambuena2, Pavel Votýpka2, Hana Hnátová1, Radka Adlová1, Milan Macek2, Josef Veselka1. 1. Department of Cardiology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic. 2. Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Abstract
BACKGROUND: The genetic background of patients with hypertrophic cardiomyopathy (HCM) treated with alcohol septal ablation (ASA) and its relationship to the outcomes are not known. We aimed to investigate whether the outcome of genotype positive (G+) patients differs from genotype negative (G-) patients treated with ASA. METHODS: We included 129 HCM patients (mean age 54±13 years) treated with ASA in a tertiary cardiovascular center and performed next generation sequencing (NGS) based genomic testing. All patients were followed-up three months after the procedure and yearly thereafter. RESULTS: A total of 30 (23%) HCM patients were G+ patients. At the 3-months follow-up, both groups of patients had similar left ventricular outflow tract PG (16.9±15.7 mmHg in G+ vs. 16.3±18.8 mmHg in G-, P=0.73) and symptoms (follow-up NYHA class 1.40±0.62 vs. 1.37±0.53, P=0.99, follow-up CCS class 0.23±0.52 vs. 0.36±0.65, P=0.36). The independent predictors of all-cause mortality were baseline interventricular septum (IVS) thickness (HR 1.12, 95% CI: 1.00-1.26, P=0.049) and age at the time of ASA (HR 1.11, 95% CI: 1.06-1.17, P<0.01). The adjusted all-cause mortality rate did not differ significantly between G+ and G- patients (P=0.52). The adjusted combined mortality event rate did not differ between both groups (P=0.78). CONCLUSIONS: Despite more severe phenotype in G+ HCM patients, ASA is an equally effective treatment for LVOTO in G+ patients as it is for treating LVOTO in G- patients. The long-term outcome after ASA is similar in G+ and G- patients. 2020 Cardiovascular Diagnosis and Therapy. All rights reserved.
BACKGROUND: The genetic background of patients with hypertrophic cardiomyopathy (HCM) treated with alcohol septal ablation (ASA) and its relationship to the outcomes are not known. We aimed to investigate whether the outcome of genotype positive (G+) patients differs from genotype negative (G-) patients treated with ASA. METHODS: We included 129 HCM patients (mean age 54±13 years) treated with ASA in a tertiary cardiovascular center and performed next generation sequencing (NGS) based genomic testing. All patients were followed-up three months after the procedure and yearly thereafter. RESULTS: A total of 30 (23%) HCM patients were G+ patients. At the 3-months follow-up, both groups of patients had similar left ventricular outflow tract PG (16.9±15.7 mmHg in G+ vs. 16.3±18.8 mmHg in G-, P=0.73) and symptoms (follow-up NYHA class 1.40±0.62 vs. 1.37±0.53, P=0.99, follow-up CCS class 0.23±0.52 vs. 0.36±0.65, P=0.36). The independent predictors of all-cause mortality were baseline interventricular septum (IVS) thickness (HR 1.12, 95% CI: 1.00-1.26, P=0.049) and age at the time of ASA (HR 1.11, 95% CI: 1.06-1.17, P<0.01). The adjusted all-cause mortality rate did not differ significantly between G+ and G- patients (P=0.52). The adjusted combined mortality event rate did not differ between both groups (P=0.78). CONCLUSIONS: Despite more severe phenotype in G+ HCM patients, ASA is an equally effective treatment for LVOTO in G+ patients as it is for treating LVOTO in G- patients. The long-term outcome after ASA is similar in G+ and G- patients. 2020 Cardiovascular Diagnosis and Therapy. All rights reserved.
Authors: Bernard J Gersh; Barry J Maron; Robert O Bonow; Joseph A Dearani; Michael A Fifer; Mark S Link; Srihari S Naidu; Rick A Nishimura; Steve R Ommen; Harry Rakowski; Christine E Seidman; Jeffrey A Towbin; James E Udelson; Clyde W Yancy Journal: Circulation Date: 2011-11-08 Impact factor: 29.690
Authors: Sinead L Murphy; Jason H Anderson; Jamie D Kapplinger; Teresa M Kruisselbrink; Bernard J Gersh; Steve R Ommen; Michael J Ackerman; J Martijn Bos Journal: J Cardiovasc Transl Res Date: 2016-02-25 Impact factor: 4.132
Authors: Josepha Binder; Steve R Ommen; Bernard J Gersh; Sara L Van Driest; A Jamil Tajik; Rick A Nishimura; Michael J Ackerman Journal: Mayo Clin Proc Date: 2006-04 Impact factor: 7.616
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: Luis R Lopes; Petros Syrris; Oliver P Guttmann; Constantinos O'Mahony; Hak Chiaw Tang; Chrysoula Dalageorgou; Sharon Jenkins; Mike Hubank; Lorenzo Monserrat; William J McKenna; Vincent Plagnol; Perry M Elliott Journal: Heart Date: 2014-10-28 Impact factor: 5.994
Authors: Roddy Walsh; Kate L Thomson; James S Ware; Birgit H Funke; Jessica Woodley; Karen J McGuire; Francesco Mazzarotto; Edward Blair; Anneke Seller; Jenny C Taylor; Eric V Minikel; Daniel G MacArthur; Martin Farrall; Stuart A Cook; Hugh Watkins Journal: Genet Med Date: 2016-08-17 Impact factor: 8.822
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: K Savostyanov; A Pushkov; I Zhanin; N Mazanova; S Trufanov; A Pakhomov; A Alexeeva; D Sladkov; A Asanov; A Fisenko Journal: Orphanet J Rare Dis Date: 2022-05-16 Impact factor: 4.303