Implantable defibrillators in primary prevention of genetic arrhythmias. A shocking choice?
Many previously unexplained life-threatening ventricular arrhythmias and sudden cardiac
deaths (SCDs) in young individuals are now recognized to be genetic in nature and are …
deaths (SCDs) in young individuals are now recognized to be genetic in nature and are …
Meta-analysis of penetrance and systematic review on transition to disease in genetic hypertrophic cardiomyopathy
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left
ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants …
ventricular hypertrophy and is classically caused by pathogenic or likely pathogenic variants …
Recent findings related to cardiomyopathy and genetics
T Yamada, S Nomura - International Journal of Molecular Sciences, 2021 - mdpi.com
With the development and advancement of next-generation sequencing (NGS), genetic
analysis is becoming more accessible. High-throughput genetic studies using NGS have …
analysis is becoming more accessible. High-throughput genetic studies using NGS have …
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 …
(HCM) with sufficient disease severity and early penetrance for identification of novel …
What causes hypertrophic cardiomyopathy?
Hypertrophic cardiomyopathy (HCM) is a global and relatively common cause of patient
morbidity and mortality and is among the first reported monogenic cardiac diseases. For 30 …
morbidity and mortality and is among the first reported monogenic cardiac diseases. For 30 …
Pathogenic mechanisms of hypertrophic cardiomyopathy beyond sarcomere dysfunction
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder,
affecting 1 in 500 people in the general population. Although characterized by asymmetric …
affecting 1 in 500 people in the general population. Although characterized by asymmetric …
Family screening for hypertrophic cardiomyopathy: is it time to change practice guidelines?
M Lafreniere-Roula, Y Bolkier, L Zahavich… - European heart …, 2019 - academic.oup.com
Aims Current guidelines recommend initiating family screening for hypertrophic
cardiomyopathy (HCM) after age 10 or 12 years unless early screening criteria are met. The …
cardiomyopathy (HCM) after age 10 or 12 years unless early screening criteria are met. The …
Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics
LK Keyt, JM Duran, QM Bui, C Chen… - Frontiers in …, 2022 - frontiersin.org
All muscle contraction occurs due to the cyclical interaction between sarcomeric thin and
thick filament proteins within the myocyte. The thin filament consists of the proteins actin …
thick filament proteins within the myocyte. The thin filament consists of the proteins actin …
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy
AS Helms, AD Thompson, AA Glazier… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: Pathogenic variants in MYBPC3, encoding cardiac MyBP-C (myosin binding
protein C), are the most common cause of familial hypertrophic cardiomyopathy. A large …
protein C), are the most common cause of familial hypertrophic cardiomyopathy. A large …
Treatment strategies for cardiomyopathy in children: a scientific statement from the American Heart Association
C Bogle, SD Colan, SD Miyamoto, S Choudhry… - Circulation, 2023 - Am Heart Assoc
This scientific statement from the American Heart Association focuses on treatment
strategies and modalities for cardiomyopathy (heart muscle disease) in children and serves …
strategies and modalities for cardiomyopathy (heart muscle disease) in children and serves …