Mending a broken heart: In vitro, in vivo and in silico models of congenital heart disease

AJ Rufaihah, CK Chen, CH Yap… - Disease Models & …, 2021 - journals.biologists.com
Birth defects contribute to∼ 0.3% of global infant mortality in the first month of life, and
congenital heart disease (CHD) is the most common birth defect among newborns …

Understanding the Genetic and Non-genetic Interconnections in the Aetiology of Isolated Congenital Heart Disease: An Updated Review: Part 1

J Maddhesiya, B Mohapatra - Current cardiology reports, 2024 - Springer
Abstract Purpose of Review Congenital heart disease (CHD) is the most frequently occurring
birth defect. Majority of the earlier reviews focussed on the association of genetic factors with …

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

E Auxerre-Plantié, T Nielsen… - Disease models & …, 2020 - journals.biologists.com
The causal genetic underpinnings of congenital heart diseases, which are often complex
and multigenic, are still far from understood. Moreover, there are also predominantly …

[HTML][HTML] Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome

CH Chan, YY Lam, N Wong, L Geng, J Zhang… - Communications …, 2023 - nature.com
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Ventricular
dysfunction and cardiac arrhythmias are well-documented complications in patients with …

[HTML][HTML] The needle in the haystack—Searching for genetic and epigenetic differences in monozygotic twins discordant for tetralogy of fallot

M Grunert, S Appelt, P Grossfeld… - Journal of Cardiovascular …, 2020 - mdpi.com
Congenital heart defects (CHDs) are the most common birth defect in human with an
incidence of almost 1% of all live births. Most cases have a multifactorial origin with both …

[HTML][HTML] Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot

DC Harvey, R Verma, B Sedaghat, BE Hjelm… - Frontiers in …, 2023 - frontiersin.org
Objective Eighty percent of patients with a diagnosis of tetralogy of Fallot (TOF) do not have
a known genetic etiology or syndrome. We sought to identify key molecular pathways and …

Translational potential of hiPSCs in predictive modeling of heart development and disease

C Mansfield, MT Zhao, M Basu - Birth defects research, 2022 - Wiley Online Library
Congenital heart disease (CHD) represents a major class of birth defects worldwide and is
associated with cardiac malformations that often require surgical intervention immediately …

[HTML][HTML] Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2

J Wang, C Wang, H Xie, X Feng, L Wei… - Frontiers in …, 2022 - frontiersin.org
Background Rare genetic variants have been identified to be important contributors to the
risk of Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease (CHD) …

Transcriptomic meta-analysis reveals biomarker pairs and key pathways in Tetralogy of Fallot

S Charles, J Sreekumar, J Natarajan - Journal of Bioinformatics and …, 2022 - World Scientific
Tetralogy of Fallot (TOF) is a cyanotic congenital condition contributed by genetic, epigenetic
as well as environmental factors. We applied sparse machine learning algorithms to …

Deciphering Congenital Heart Disease Using Human Induced Pluripotent Stem Cells

H Zhang, JC Wu - Congenital Heart Diseases: The Broken Heart: Clinical …, 2024 - Springer
Congenital heart disease (CHD) is a leading cause of birth defect-related death. Despite
significant advances, the mechanisms underlying the development of CHD are complex and …