[HTML][HTML] Cardiomyopathies: an overview

T Ciarambino, G Menna, G Sansone… - International journal of …, 2021 - mdpi.com
Background: Cardiomyopathies are a heterogeneous group of pathologies characterized by
structural and functional alterations of the heart. Aims: The purpose of this narrative review is …

[HTML][HTML] Hypertrophic and dilated cardiomyopathy: four decades of basic research on muscle lead to potential therapeutic approaches to these devastating genetic …

JA Spudich - Biophysical journal, 2014 - cell.com
With the advent of technologies to obtain the complete sequence of the human genome in a
cost-effective manner, this decade and those to come will see an exponential increase in our …

Sudden cardiac death in young athletes: practical challenges and diagnostic dilemmas

N Chandra, R Bastiaenen, M Papadakis… - Journal of the American …, 2013 - jacc.org
Sudden cardiac death (SCD) in an athlete is a rare yet highly visible tragedy that generates
significant media attention and discussion among medical personnel, sports communities …

Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry

SD Colan, SE Lipshultz, AM Lowe, LA Sleeper… - Circulation, 2007 - Am Heart Assoc
Background—Current information on the epidemiology and outcomes of hypertrophic
cardiomyopathy (HCM) in children is limited by disease diversity and small case series …

Phosphorylation and function of cardiac myosin binding protein-C in health and disease

D Barefield, S Sadayappan - Journal of molecular and cellular cardiology, 2010 - Elsevier
During the past 5 years there has been an increasing body of literature describing the roles
cardiac myosin binding protein C (cMyBP-C) phosphorylation play in regulating cardiac …

Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies

JM Predmore, P Wang, F Davis, S Bartolone… - Circulation, 2010 - Am Heart Assoc
Background—The ubiquitin proteasome system maintains a dynamic equilibrium of proteins
and prevents accumulation of damaged and misfolded proteins, yet its role in human cardiac …

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

PS Dhandapany, S Sadayappan, Y Xue, GT Powell… - Nature …, 2009 - nature.com
Heart failure is a leading cause of mortality in South Asians. However, its genetic etiology
remains largely unknown. Cardiomyopathies due to sarcomeric mutations are a major …

Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice

DJ Tester, MJ Ackerman - Circulation, 2011 - Am Heart Assoc
The molecular millennium has bestowed researchers with the essential tools to identify the
underlying genetic substrates for thousands of genetic disorders, most of which are rare and …

Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy

JM Bos, ML Will, BJ Gersh, TM Kruisselbrink… - Mayo Clinic …, 2014 - Elsevier
Objectives To determine the prevalence and spectrum of mutations and genotype-
phenotype relationships in the largest hypertrophic cardiomyopathy (HCM) cohort to date …

Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations

J Binder, SR Ommen, BJ Gersh, SL Van Driest… - Mayo Clinic …, 2006 - Elsevier
OBJECTIVE To examine the relationship among age, septal morphological subtype, and
presence of hypertrophic cardiomyopathy (HCM)-associated myofilament mutations …