scholarly journals In Vivo and In Vitro Genetic Models of Congenital Heart Disease

Author(s):  
Uddalak Majumdar ◽  
Jun Yasuhara ◽  
Vidu Garg
2021 ◽  
Vol 14 (3) ◽  
pp. dmm047522
Author(s):  
Abdul Jalil Rufaihah ◽  
Ching Kit Chen ◽  
Choon Hwai Yap ◽  
Citra N. Z. Mattar

ABSTRACTBirth 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 worldwide. Despite the significant impact on human health, most treatments available for this heterogenous group of disorders are palliative at best. For this reason, the complex process of cardiogenesis, governed by multiple interlinked and dose-dependent pathways, is well investigated. Tissue, animal and, more recently, computerized models of the developing heart have facilitated important discoveries that are helping us to understand the genetic, epigenetic and mechanobiological contributors to CHD aetiology. In this Review, we discuss the strengths and limitations of different models of normal and abnormal cardiogenesis, ranging from single-cell systems and 3D cardiac organoids, to small and large animals and organ-level computational models. These investigative tools have revealed a diversity of pathogenic mechanisms that contribute to CHD, including genetic pathways, epigenetic regulators and shear wall stresses, paving the way for new strategies for screening and non-surgical treatment of CHD. As we discuss in this Review, one of the most-valuable advances in recent years has been the creation of highly personalized platforms with which to study individual diseases in clinically relevant settings.


2008 ◽  
Vol 72 (4) ◽  
pp. 544-551 ◽  
Author(s):  
Joachim G. Eichhorn ◽  
Frederick R. Long ◽  
Claudia Jourdan ◽  
Johannes T. Heverhagen ◽  
Sharon L. Hill ◽  
...  

2014 ◽  
Vol 6 (3) ◽  
Author(s):  
Mena Botros ◽  
Deepa Mukundan

<em>Lactobacilli</em> are rod shaped gram positive bacteria that naturally colonize the human gastrointestinal and genitourinary tracts and occasionally cause disease in humans. <em>Lactobacillus</em> infections are found in patients who are immunocompromized or have severe comorbidities. We report <em>Lactobacillus</em> endocarditis in a 17-year-old adolescent girl with cardiac prosthetic material following surgical correction for complex cyanotic congenital heart disease. Accurate identification of the organism can be delayed. Despite <em>in vivo</em> susceptibility to vancomycin, our patient clinically failed vancomycin therapy but ultimately responded to a six-week course of penicillin, in addition to a 4-week course of clindamycin and gentamicin. She recovered without the need for surgical intervention and has been symptom free for one year. Upon review of the literature, we found that <em>Lactobacillus</em> endocarditis has not been reported in a pediatric patient with complex cyanotic congenital heart disease.


2017 ◽  
Vol 54 ◽  
pp. 111-116 ◽  
Author(s):  
Rafael Medero ◽  
Sylvana García-Rodríguez ◽  
Christopher J. François ◽  
Alejandro Roldán-Alzate

2011 ◽  
Vol 38 (S1) ◽  
pp. 157-157
Author(s):  
J. K. Votava-Smith ◽  
J. S. Glickstein ◽  
L. Simpson ◽  
I. A. Williams

Circulation ◽  
1971 ◽  
Vol 43 (4) ◽  
pp. 585-592 ◽  
Author(s):  
JAY M. M. JARMAKANI ◽  
THOMAS P. GRAHAM ◽  
D. WOODROW BENSON ◽  
RAMON V. CANENT ◽  
JOSEPH C. GREENFIELD

2015 ◽  
Vol 35 (6) ◽  
pp. 1545-1553 ◽  
Author(s):  
HUA HAN ◽  
YU CHEN ◽  
GANG LIU ◽  
ZENGQIANG HAN ◽  
ZHOU ZHAO ◽  
...  

Biomedicines ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 478
Author(s):  
Yuichi Matsuzaki ◽  
Matthew G. Wiet ◽  
Brian A. Boe ◽  
Toshiharu Shinoka

Bioabsorbable materials made from polymeric compounds have been used in many fields of regenerative medicine to promote tissue regeneration. These materials replace autologous tissue and, due to their growth potential, make excellent substitutes for cardiovascular applications in the treatment of congenital heart disease. However, there remains a sizable gap between their theoretical advantages and actual clinical application within pediatric cardiovascular surgery. This review will focus on four areas of regenerative medicine in which bioabsorbable materials have the potential to alleviate the burden where current treatment options have been unable to within the field of pediatric cardiovascular surgery. These four areas include tissue-engineered pulmonary valves, tissue-engineered patches, regenerative medicine options for treatment of pulmonary vein stenosis and tissue-engineered vascular grafts. We will discuss the research and development of biocompatible materials reported to date, the evaluation of materials in vitro, and the results of studies that have progressed to clinical trials.


eLife ◽  
2017 ◽  
Vol 6 ◽  
Author(s):  
Jun-yi Zhu ◽  
Yulong Fu ◽  
Margaret Nettleton ◽  
Adam Richman ◽  
Zhe Han

Genomic sequencing has implicated large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system is needed to validate gene associations with pathology. We developed a Drosophila-based functional system to screen candidate disease genes identified from Congenital Heart Disease (CHD) patients. 134 genes were tested in the Drosophila heart using RNAi-based gene silencing. Quantitative analyses of multiple cardiac phenotypes demonstrated essential structural, functional, and developmental roles for more than 70 genes, including a subgroup encoding histone H3K4 modifying proteins. We also demonstrated the use of Drosophila to evaluate cardiac phenotypes resulting from specific, patient-derived alleles of candidate disease genes. We describe the first high throughput in vivo validation system to screen candidate disease genes identified from patients. This approach has the potential to facilitate development of precision medicine approaches for CHD and other diseases associated with genetic factors.


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