Mitral Valve Prolapse and its Motley Crew‐Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition

JE Morningstar, A Nieman, C Wang… - Journal of the …, 2021 - Am Heart Assoc
Mitral valve prolapse (MVP) is a commonly occurring heart condition defined by
enlargement and superior displacement of the mitral valve leaflet (s) during systole …

A systematic review of Ebstein's anomaly with left ventricular noncompaction

SK Thareja, MA Frommelt, J Lincoln, JW Lough… - Journal of …, 2022 - mdpi.com
Traditional definitions of Ebstein's anomaly (EA) and left ventricular noncompaction (LVNC),
two rare congenital heart defects (CHDs), confine disease to either the right or left heart …

[PDF][PDF] CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease

L Doering, A Cornean, T Thumberger… - Disease Models & …, 2023 - journals.biologists.com
High-throughput DNA sequencing studies increasingly associate DNA variants with
congenital heart disease (CHD). However, functional modeling is a crucial prerequisite for …

The role of cullin-RING ligases in striated muscle development, function, and disease

J Blondelle, A Biju, S Lange - International Journal of Molecular Sciences, 2020 - mdpi.com
The well-orchestrated turnover of proteins in cross-striated muscles is one of the
fundamental processes required for muscle cell function and survival. Dysfunction of the …

Altered contractility, Ca2+ transients, and cell morphology seen in a patient-specific iPSC-CM model of Ebstein's anomaly with left ventricular noncompaction

SK Thareja, M Anfinson… - American Journal …, 2023 - journals.physiology.org
Patients with two congenital heart diseases (CHDs), Ebstein's anomaly (EA) and left
ventricular noncompaction (LVNC), suffer higher morbidity than either CHD alone. The …

KLHL38 facilitates staurosporine‐induced apoptosis in HL‐1 cells via myocardin degradation

Y Luo, L Tian, C Liang, Y Xu - IUBMB life, 2022 - Wiley Online Library
Cardiac apoptosis has been identified as one of the main precipitating factors of heart failure
(HF) throughout the whole course of progressive disease. Limited to the lack of diagnostic …

[HTML][HTML] Advances in symptomatic therapy for left ventricular non-compaction in children

D Li, C Wang - Frontiers in Pediatrics, 2023 - frontiersin.org
Left ventricular non-compaction is a complex cardiomyopathy and the third largest childhood
cardiomyopathy, for which limited knowledge is available. Both pathogenesis and prognosis …

Microdeletions at 19p13. 11p12 in five individuals with neurodevelopmental delay

M Rieger, S Moutton, S Verheyen, K Steindl… - European Journal of …, 2023 - Elsevier
Only few copy number variants at chromosome 19p13. 11 have been reported, thus
associated clinical information is scarce. Proximal to these copy number losses, we now …

Ebstein Anomaly and Tricuspid valve Dysplasia

Y Perez, EH Stephens, JA Dearani - Pediatric Cardiology: Fetal, Pediatric …, 2023 - Springer
Ebstein anomaly and tricuspid valve dysplasia are the two most common malformations
affecting the tricuspid valve. Both lesions have a broad range of clinical presentations due to …

Synthesizing Clinical, Genetic, Cellular, and Pathway Insights to Understand a Familial Case of Ebstein's Anomaly and Left Ventricular Noncompaction

SK Thareja - 2022 - search.proquest.com
Congenital heart defects (CHDs) are cardiogenic malformations present at or before birth
and account for a high burden of neonatal morbidity and mortality. While traditional …