Hypertrophic Cardiomyopathy Research

Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation, Furqan, A., Arscott, P., Girolami, F., Cirino, A. L., Michels, M., Day, S. M., . . . SHaRe, C. O. (2017, October). Retrieved October 20, 2017, from https://www.ncbi.nlm.nih.gov/pubmed/28986452/ For a summary of trial transcript click here.

RESET-HCM: Moderate-intensity exercise improves exercise capacity in hypertrophic cardiomyopathy, Sara Saberi, MD, MS1; Matthew Wheeler, MD, PhD2; Jennifer Bragg-Gresham, MS, PhD1; et al, JAMA. Published online March 17, 2017. doi:10.1001/jama.2017.2503 You can watch a short video of Sara describing the study here.

Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy, Adam S. Helms, Francisco J. Alvarado, Jaime Yob, Sharlene Day, et al Circulation. 2016;134:1738–1748. DOI: 10.1161/CIRCULATIONAHA.115.020086, Summary of trial transcript and study editorial.

Usefulness of Electrocardiographic Patterns at Presentation to Predict Long-term Risk of Cardiac Death in Patients With Hypertrophic Cardiomyopathy, Elena Biagini, MD, PhD, Chiara Pazzi, MD, Iacopo Olivotto, MD et al, For a summary of the trial transcript click here.

Prevalence of subcutaneous implantable cardioverter defibrillator candidacy based on template ECG screening in patients with hypertrophic cardiomyopathy, Niccolo’ Maurizi, Iacopo Olivotto, MD, Louise R.A. et al, Heart Rhythm. 2016 For a summary of the trial transcript click here.

Effectiveness of subcutaneous implantable cardioverter-defibrillator testing in patients with hypertrophic cardiomyopathy, Niccoló Maurizi, Ilaria Tanini, Iacopo Olivotto et al, IJCA-24388 For a summary of trial transcript click here.

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation, Julian R. Homburger, Eric Green et al; PNAS, June 14, 2016 vol. 113 no. 24 For a summary of trial transcript click here.

Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation CarriersA Pilot Randomized Trial to Modify Disease Expression. Ho CY, Lakdawala NK et al; Jacc:Heart Failure Vol.3 , N0. 2 , 2015 For a summary of trial transcript click here.

Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations Ho CY, Ashley E, Day S, Olivotto I, et al; JACC VOL. 64, NO. 24, 2014 ISSN 0735-1097 For a summary of trial transcript click here.

The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin.J Biol Chem; Bloemink M. et al; February 2014

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science; Green, E.M. et al; February 2016

Allele-Specific Silencing of Mutant Myh6 Transcripts in Mice Suppresses Hypertrophic Cardiomyopathy. Science; Jiang, J. et al; October 2013

Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function. Proceedings of the National Academy of Sciences; Sommese, R. et al; July 2013

Pharmacological treatment options for hypertrophic cardiomyopathy: high time for evidence. Spoladore R, Maron MS, D’Amato R, Camici PG, Olivotto I. Eur Heart J. 2012;33(14):1724–1733. Available at: papers2://publication/doi/10.1093/eurheartj/ehs150.

Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. Girolami F, Ho CY, Semsarian C, et al. J Am Coll Cardiol. 2010;55(14):1444–53. doi:10.1016/j.jacc.2009.11.062.

Dilated Cardiomyopathy Research

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy, Norton, Nadine et al. The American Journal of Human Genetics , Volume 88 , Issue 3 , 273 – 282

Return of Genetic Results in the Familial Dilated Cardiomyopathy Research Project, Siegfried, Jill D. et al. Journal of genetic counseling 22.2 (2013): 10.1007/s10897–012–9532–8. PMC. Web. 27 July 2016.

Truncations of Titin Causing Dilated Cardiomyopathy. New England Journal of Medicine; Herman, D. et al; February 2012

Genetic Research

Hypertrophic and Dilated Cardiomyopathy: Four Decades of Basic Research on Muscle Lead to Potential Therapeutic Approaches to These Devastating Genetic Diseases Biophysical Journal; Spudich, J. A.; March 2014

Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motor. Circulation Research; Moore, JR et al; July 2012

Clinical assessment incorporating a personal genome. Ashley EA, Butte AJ, Wheeler MT, et al. Lancet 2010; 375: 1525–35; DOI:10.1016/S0140-6736(10)60599-5

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults. New England Journal of Medicine; Morita, H. et al; May 2008