Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline

RE Hershberger, MM Givertz, CY Ho, DP Judge… - Journal of cardiac …, 2018 - Elsevier
This guideline describes the approach and expertise needed for the genetic evaluation of
cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the …

Systematic review of genotype‐phenotype Correlations in Noncompaction Cardiomyopathy

JI van Waning, J Moesker, D Heijsman… - Journal of the …, 2019 - Am Heart Assoc
Background A genetic cause can be identified in 30% of noncompaction cardiomyopathy
patients (NCCM) with clinical features ranging from asymptomatic cardiomyopathy to heart …

Genetic basis of left ventricular noncompaction

P Rojanasopondist, L Nesheiwat… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Left ventricular noncompaction (LVNC) is the third most common pediatric
cardiomyopathy characterized by a thinned myocardium and prominent trabeculations. Next …

Key questions relating to left ventricular noncompaction cardiomyopathy: is the emperor still wearing any clothes?

RH Anderson, B Jensen, TJ Mohun… - Canadian Journal of …, 2017 - Elsevier
The evidence is increasing that left ventricular noncompaction cardiomyopathy as it is
currently defined does not represent a failure of compaction of pre-existing trabecular …

Human induced pluripotent stem-cell-derived cardiomyocytes as models for genetic cardiomyopathies

A Brodehl, H Ebbinghaus, MA Deutsch… - International journal of …, 2019 - mdpi.com
In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …

Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases

JL Salazar, S Yamamoto - Molecular Mechanisms of Notch Signaling, 2018 - Springer
Notch signaling research dates back to more than one hundred years, beginning with the
identification of the Notch mutant in the fruit fly Drosophila melanogaster. Since then …

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated …

Y Lin, J Huang, Z Zhu, Z Zhang, J Xian, Z Yang… - Orphanet Journal of …, 2021 - Springer
Background The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of
cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism …

Regulation of Notch signaling by E3 ubiquitin ligases

D Dutta, V Sharma, M Mutsuddi… - The FEBS …, 2022 - Wiley Online Library
Notch signaling is an evolutionarily conserved pathway that is widely used for multiple
cellular events during development. Activation of the Notch pathway occurs when the ligand …

Left ventricular noncompaction syndrome: genetic insights and therapeutic perspectives

J Finsterer, C Stöllberger - Current Cardiology Reports, 2020 - Springer
Abstract Purpose of Review To discuss the association of left ventricular hypertrabeculation/
noncompaction (LVHT/LVNC/NCCM) with genetic disease and to outline the therapeutic …

Comprehensive analysis and validation reveal potential MYCN regulatory biomarkers associated with neuroblastoma prognosis

X Qin, B Chen - Journal of Biomolecular Structure and Dynamics, 2023 - Taylor & Francis
Neuroblastoma (NB) is an embryonic malignant tumor that occurs in the sympathetic
nervous system. The treatment results of patients in the high-risk group are poor, and …