@article{e57b334dd25d401a9b7a3453ca65fcba,
title = "Hypertrophic cardiomyopathy: the future of treatment",
abstract = "Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic disorder most often caused by sarcomeric mutations resulting in left ventricular hypertrophy, fibrosis, hypercontractility, and reduced compliance. It is the most common inherited monogenic cardiac condition, affecting 0.2% of the population. Whereas currently available therapies for HCM have been effective in reducing morbidity, there remain important unmet needs in the treatment of both the obstructive and non-obstructive phenotypes. Novel pharmacotherapies directly target the molecular underpinnings of HCM, while innovative procedural techniques may soon offer minimally-invasive alternatives to current septal reduction therapy. With the advent of embryonic gene editing, there now exists the potential to correct underlying genetic mutations that may result in disease. This article details the recent developments in the treatment of HCM including pharmacotherapy, septal reduction procedures, mitral valve manipulation, and gene-based therapies.",
keywords = "CRISPR/Cas9, Genome editing, High-intensity focused ultrasound, Hypertrophic cardiomyopathy, Mavacamten, MitraClip, Myectomy, Papillary muscle, Percutaneous mitral valve repair, Radiofrequency ablation",
author = "Tuohy, {C. Vaughan} and Sanjiv Kaul and Song, {Howard K.} and Babak Nazer and Stephen Heitner",
note = "Funding Information: Despite tremendous strides in improving care for patients suffering from HCM, there remains a significant burden of disease. In recent years, we have seen the emergence of novel pharmacotherapies, minimally‐invasive procedures, and gene‐directed approaches with the potential to fundamentally alter the therapeutic landscape. While most recent drug trials have failed, they have advanced our understanding of therapeutic targets, and there is promise for the myosin inhibitors. Surgical techniques continue to evolve and now frequently address the mitral valve, while novel procedures including transcatheter mitral valve repair, RF myocardial ablation, and HIFU may soon offer alternatives for patients with oHCM. Looking to the distant future, there is even the potential to address the very genetic mutations responsible for the disease and prevent transmission to future generations. We believe that this blossoming field offers tremendous opportunities for young investigators and clinicians working to improve quality of life for patients with HCM. Conflict of interest: S.B.H. has received research and consulting funding from MyoKardia Inc. and Cytokinetics Inc.; and he serves as co‐chair on the Steering Committee for the EXPLORER‐HCM study. The other authors have nothing to disclose. Publisher Copyright: {\textcopyright} 2020 The Authors. European Journal of Heart Failure {\textcopyright} 2020 European Society of Cardiology",
year = "2020",
month = feb,
day = "1",
doi = "10.1002/ejhf.1715",
language = "English (US)",
volume = "22",
pages = "228--240",
journal = "European Journal of Heart Failure",
issn = "1388-9842",
publisher = "Oxford University Press",
number = "2",
}