MYH7 in cardiomyopathy and skeletal muscle myopathy

Y Gao, L Peng, C Zhao - Molecular and Cellular Biochemistry, 2024 - Springer
Myosin heavy chain gene 7 (MYH7), a sarcomeric gene encoding the myosin heavy chain
(myosin-7), has attracted considerable interest as a result of its fundamental functions in …

[HTML][HTML] Emerging Themes in Genetics of Hypertrophic Cardiomyopathy. Current status and clinical application.

S García-Hernández, L de la Higuera Romero… - Canadian Journal of …, 2024 - Elsevier
Hypertrophic cardiomyopathy (HCM), defined clinically by the presence of unexplained left
ventricular hypertrophy (LVH) with wall-thickness≥ 1.5 cm is a phenotype in search of a …

Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria

E Monda, G De Michele, G Diana, F Verrillo, M Rubino… - Diagnostics, 2024 - mdpi.com
Left ventricular non-compaction (LVNC) is a heterogeneous myocardial disorder
characterized by prominent trabeculae protruding into the left ventricular lumen and deep …

From Genes to Therapy: A Comprehensive Exploration of Congenital Heart Disease Through the Lens of Genetics and Emerging Technologies

K Nawaz, N Alifah, T Hussain, H Hameed, H Ali… - Current Problems in …, 2024 - Elsevier
Congenital heart disease (CHD) affects approximately 1% of live births worldwide, making it
the most common congenital anomaly in newborns. Recent advancements in genetics and …

[HTML][HTML] Long-Term outcomes of modified cone reconstruction for Ebstein's anomaly in pediatric patients in a single center

I Park, TG Jun, JH Yang, IS Kang, J Huh… - Korean Circulation …, 2024 - ncbi.nlm.nih.gov
ABSTRACT Background and Objective: We aimed to investigate long-term clinical and
echocardiographic outcomes, including tricuspid valve durability, annular growth, and left …

Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly

Z Zhou, X Tang, W Chen, Q Chen, B Ye… - Human Genetics and …, 2024 - cell.com
Ebstein's anomaly, a rare congenital heart disease, is distinguished by the failure of
embryological delamination of the tricuspid valve leaflets from the underlying primitive right …

Genetics of Common Birth Defects in Newborns

SN Nees, E Jelin, WK Chung - Principles of Neonatology, 2024 - Elsevier
AbstractBirth defects are among the leading causes of morbidity and mortality in children
and are present in 3% to 6% of births. The majority of birth defects are thought to be isolated …

[HTML][HTML] Valvulopathies and Genetics: Where are We?

M Coll, A Fernández-Falgueras, A Iglesias… - Reviews in …, 2024 - imrpress.com
Valvulopathies are among the most common cardiovascular diseases, significantly
increasing morbidity and mortality. While many valvular heart diseases are acquired later in …

Pharmacological Interventions to Mitigate Immunodeficiency in Children with Congenital Heart Defects: A Review Article

SO Alsaadi, AH Fagihi, AY Alfaifi… - Egyptian Journal of …, 2024 - ejchem.journals.ekb.eg
Background _ Heart failure (HF) is a multifaceted clinical illness caused by several primary
and secondary factors, and it follows similar patterns of disease progression. It is associated …

RCAN family member 3 deficiency contributes to noncompaction of the ventricular myocardium

T Hu, L Liu, H Wang, M Yang, B Xu, H Xie, Z Lin… - Journal of Genetics and …, 2024 - Elsevier
Noncompaction of the ventricular myocardium (NVM), the third most diagnosed
cardiomyopathy, is characterized by prominent trabeculae and intratrabecular recesses …