scholarly journals Molecular Mechanisms of Congenital Heart Disease

10.5772/27902 ◽  
2012 ◽  
Author(s):  
Jing-bin Huang ◽  
Jian Liang
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Molecular Mechanisms

scholarly journals Heart failure in single right ventricle congenital heart disease: physiological and molecular considerations

2020 ◽  
Vol 318 (4) ◽  
pp. H947-H965 ◽  
Author(s):  
Anastacia M. Garcia ◽  
Jonathan-Thomas Beatty ◽  
Stephanie J. Nakano
Keyword(s):  
Risk Factors ◽  
Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Right Ventricle ◽  
Congenital Heart ◽  
Molecular Mechanisms ◽  
Therapeutic Interventions ◽  
Anatomy And Physiology ◽  
Molecular Alterations

Because of remarkable surgical and medical advances over the past several decades, there are growing numbers of infants and children living with single ventricle congenital heart disease (SV), where there is only one functional cardiac pumping chamber. Nevertheless, cardiac dysfunction (and ultimately heart failure) is a common complication in the SV population, and pharmacological heart failure therapies have largely been ineffective in mitigating the need for heart transplantation. Given that there are several inherent risk factors for ventricular dysfunction in the setting of SV in addition to probable differences in molecular adaptations to heart failure between children and adults, it is perhaps not surprising that extrapolated adult heart failure medications have had limited benefit in children with SV heart failure. Further investigations into the molecular mechanisms involved in pediatric SV heart failure may assist with risk stratification as well as development of targeted, efficacious therapies specific to this patient population. In this review, we present a brief overview of SV anatomy and physiology, with a focus on patients with a single morphological right ventricle requiring staged surgical palliation. Additionally, we discuss outcomes in the current era, risk factors associated with the progression to heart failure, present state of knowledge regarding molecular alterations in end-stage SV heart failure, and current therapeutic interventions. Potential avenues for improving SV outcomes, including identification of biomarkers of heart failure progression, implications of personalized medicine and stem cell-derived therapies, and applications of novel models of SV disease, are proposed as future directions.

scholarly journals Catecholamine-Secreting Tumors in Pediatric Patients With Cyanotic Congenital Heart Disease

2019 ◽  
Vol 3 (11) ◽  
pp. 2135-2150
Author(s):  
Swashti Agarwal ◽  
Ishita Jindal ◽  
Andrea Balazs ◽  
David Paul
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Risk ◽  
Congenital Heart ◽  
Molecular Mechanisms ◽  
Pediatric Population ◽  
Cyanotic Congenital Heart Disease ◽  
High Risk Population ◽  
Manual Search ◽  
Sustained Hypoxia

Abstract Catecholamine-secreting tumors are rare among the pediatric population but are increasingly being reported in children with sustained hypoxia secondary to cyanotic congenital heart disease (CCHD). With this review, we report the clinical characteristics of these tumors in children with CCHD. The articles included in the present review were identified using PubMed through February 2019. A manual search of the references retrieved from relevant articles was also performed. Pheochromocytomas and paragangliomas (PPGL) in children are commonly associated with high-risk germline or somatic mutations. There is evidently a higher risk of tumorigenesis in children with CCHD as compared with the general pediatric population, even in the absence of susceptible gene mutations. This is due to molecular mechanisms involving the aberrant activation of hypoxia-response elements, likely secondary to sustained hypoxemia, resulting in tumorigenesis. Due to overlapping symptoms with CCHD, the diagnosis of PPGL may be delayed or missed in these patients. We studied all previously reported PPGL cases in children with CCHD and reviewed phenotypic and biochemical features to assess for contributing factors in tumorigenesis. Larger studies are needed to help determine other potential predisposing factors and to establish screening guidelines in this high-risk population. A delay in diagnosis of the PPGL tumors can lead to exacerbation of cardiac failure, and therefore early diagnosis and intervention may provide better outcomes in these patients, necessitating the need for regular surveillance. We recommend routine biochemical screening in patients with sustained hypoxia secondary to CCHD.

scholarly journals Molecular mechanisms of congenital heart disease

2010 ◽  
Vol 19 (5) ◽  
pp. e183-e193 ◽  
Author(s):  
Huang Jing-bin ◽  
Liu Ying-long ◽  
Sun Pei-wu ◽  
Lv Xiao-dong ◽  
Du Ming ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Molecular Mechanisms

scholarly journals Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease

2016 ◽  
Vol 123 (3) ◽  
pp. 551-569 ◽  
Author(s):  
Benjamin Kloesel ◽  
James A. DiNardo ◽  
Simon C. Body
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Molecular Mechanisms

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms

2017 ◽  
Vol 17 (9) ◽  
pp. 861-870 ◽  
Author(s):  
Giulio Calcagni ◽  
Marta Unolt ◽  
Maria Cristina Digilio ◽  
Anwar Baban ◽  
Paolo Versacci ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Molecular Mechanisms ◽  
Genetic Syndromes

scholarly journals Alteration of cardiolipin biosynthesis and remodeling in single right ventricle congenital heart disease

2020 ◽  
Vol 318 (4) ◽  
pp. H787-H800
Author(s):  
Anastacia M. Garcia ◽  
Jessica C. McPhaul ◽  
Genevieve C. Sparagna ◽  
Danielle A. Jeffrey ◽  
Raleigh Jonscher ◽  
...  
Keyword(s):  
Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Right Ventricle ◽  
Copy Number ◽  
Congenital Heart ◽  
Molecular Mechanisms ◽  
Single Ventricle ◽  
Ionization Mass ◽  
Mitochondrial Copy Number

Despite advances in both medical and surgical therapies, individuals with single ventricle heart disease (SV) remain at high risk for the development of heart failure (HF). However, the molecular mechanisms underlying remodeling and eventual HF in patients with SV are poorly characterized. Cardiolipin (CL), an inner mitochondrial membrane phospholipid, is critical for proper mitochondrial function, and abnormalities in CL content and composition are known in various cardiovascular disease etiologies. The purpose of this study was to investigate myocardial CL content and composition in failing and nonfailing single right ventricle (RV) samples compared with normal control RV samples, to assess mRNA expression of CL biosynthetic and remodeling enzymes, and to quantitate relative mitochondrial copy number. A cross-sectional analysis of RV myocardial tissue from 22 failing SV (SVHF), 9 nonfailing SV (SVNF), and 10 biventricular control samples (BVNF) was performed. Expression of enzymes involved in CL biosynthesis and remodeling were analyzed using RT-qPCR and relative mitochondrial DNA copy number determined by qPCR. Normal phase high-pressure liquid chromatography coupled to electrospray ionization mass spectrometry was used to quantitate total and specific CL species. While mitochondrial copy number was not significantly different between groups, total CL content was significantly lower in SVHF myocardium compared with BVNF controls. Despite having lower total CL content however, the relative percentage of the major tetralinoleoyl CL species is preserved in SVHF samples relative to BVNF controls. Correspondingly, expression of enzymes involved in CL biosynthesis and remodeling were upregulated in SVHF samples when compared with both SVNF samples and BVNF controls. NEW & NOTEWORTHY The mechanisms underlying heart failure in the single ventricle (SV) congenital heart disease population are largely unknown. In this study we identify alterations in cardiac cardiolipin metabolism, composition, and content in children with SV heart disease. These findings suggest that cardiolipin could be a novel therapeutic target in this unique population of patients.

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