Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy

AJ Marian, E Braunwald - Circulation research, 2017 - Am Heart Assoc
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left
ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle …

Hypertrophic cardiomyopathy: mutations to mechanisms to therapies

M Kawana, JA Spudich, KM Ruppel - Frontiers in Physiology, 2022 - frontiersin.org
Hypertrophic cardiomyopathy (HCM) affects more than 1 in 500 people in the general
population with an extensive burden of morbidity in the form of arrhythmia, heart failure, and …

The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations

S Nag, DV Trivedi, SS Sarkar, AS Adhikari… - Nature structural & …, 2017 - nature.com
Hypertrophic cardiomyopathy (HCM) is primarily caused by mutations in β-cardiac myosin
and myosin-binding protein-C (MyBP-C). Changes in the contractile parameters of myosin …

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy

JW McNamara, A Li, S Lal, JM Bos, SP Harris… - PloS one, 2017 - journals.plos.org
The “super-relaxed state”(SRX) of myosin represents a 'reserve'of motors in the heart.
Myosin heads in the SRX are bound to the thick filament and have a very low ATPase rate …

Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes

JW McNamara, A Li, NJ Smith, S Lal… - Journal of molecular and …, 2016 - Elsevier
Cardiac myosin binding protein-C (cMyBP-C) is a structural and regulatory component of
cardiac thick filaments. It is observed in electron micrographs as seven to nine transverse …

[HTML][HTML] Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy

AS Helms, VT Tang, TS O'Leary, S Friedline… - JCI insight, 2020 - ncbi.nlm.nih.gov
Mutations in cardiac myosin binding protein C (MyBP-C, encoded by MYBPC3) are the most
common cause of hypertrophic cardiomyopathy (HCM). Most MYBPC3 mutations result in …

The genetic landscape of cardiomyopathy and its role in heart failure

EM McNally, DY Barefield, MJ Puckelwartz - Cell metabolism, 2015 - cell.com
Heart failure is highly influenced by heritability, and nearly 100 genes link to familial
cardiomyopathy. Despite the marked genetic diversity that underlies these complex …

Hypertrophic cardiomyopathy in purpose-bred cats with the A31P mutation in cardiac myosin binding protein-C

JA Stern, VN Rivas, JL Kaplan, Y Ueda, MS Oldach… - Scientific Reports, 2023 - nature.com
We sought to establish a large animal model of inherited hypertrophic cardiomyopathy
(HCM) with sufficient disease severity and early penetrance for identification of novel …

An update on MYBPC3 gene mutation in hypertrophic cardiomyopathy

BS Tudurachi, A Zăvoi, A Leonte, L Țăpoi… - International journal of …, 2023 - mdpi.com
Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically inherited
cardiomyopathy that follows an autosomal dominant inheritance pattern. The majority of …

Contractility parameters of human β-cardiac myosin with the hypertrophic cardiomyopathy mutation R403Q show loss of motor function

S Nag, RF Sommese, Z Ujfalusi, A Combs… - Science …, 2015 - science.org
Hypertrophic cardiomyopathy (HCM) is the most frequently occurring inherited
cardiovascular disease. It is caused by mutations in genes encoding the force-generating …