Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypoplastic left heart syndrome is a disease with poor prognosis, which is characterized by severe heart failure in early neonatal period. However, there are some patients who survive for relatively longer period. In the light of this fact, 18 patients with this syndrome were studied by echocardiography, and the anatomical and functional classification was attempted. Hypoplastic left heart syndrome was classified into three types: type I was mitral atresia and aortic atresia, type II was mitral atresia and aortic stenosis, and type III was mitral atresia with an abnormality of cono-truncal relationship, respectively. M-mode echocardiography was performed in 15 of the 18 patients, and two-dimensional echocardiograms were recorded in seven cases. Heart catheterization was performed in all patients. Autopsy was performed on 14 of the 18 patients, and its findings were compared with the findings obtained by echocardiography. Two-dimensional echocardiographic classification of this syndrome was possible in all the patients using above-mentioned criteria. Patent ductus arteriosus was detected in two of six cases having this syndrome, and foramen ovale in 4 of 5 cases. The morphological evaluation of both the interatrial and interventricular septum was made by two-dimensional echocardiography, and it contributed to decide the indication of balloon-atrial septostomy. The patients with type I had the poorest prognosis, and the patients with type III survived longer period. Anatomical classification of this syndrome and detection of associated anomalies by two-dimensional echocardiography are recommended to consider the prognostic and surgical considerations.
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PMID:[Echocardiographic assessment of anatomical detail in patients with hypoplastic left heart syndrome]. 718 13

Hypoplastic left heart syndrome is a complex conglomerate of congenital cardiac abnormalities encountered in early life. Heart failure compensation and survival are intricately dependent on maintenance of ductal patency and avoidance of hyperoxic ventilation. While medical therapy is woefully inadequate, the staged Norwood procedure or cardiac transplantation remain the better options for treatment. Critically dependent on surgical outcomes, 5-year survival appears better with cardiac transplantation.
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PMID:Neonatal congenital heart disease and "complex" heart failure. 1204 90

Heart transplantation represents the only effective method of treatment of intractable heart diseases. Cardiomyopathy with heart dilation, inoperable congenital heart diseases and heart failure after the heart surgery represent the most common indications for heart transplantation in pediatrics. Hypoplastic left heart syndrome is the most frequent indication for the heart transplantation in neonates and infants. In infants steroids-free immunosuppression is used or steroids are withdrawn 6 to 12 months after the transplantation. Graft failure, acute rejection and infection are the most common causes of death after transplantation. Long-term results and the quality of life depend on the occurrence of rejection, infection, graft vasculopathy, lymphoproliferative disease and side effects of immunosuppression. Posttransplant graft vasculopathy, however, represents the most dangerous late complication, which requires retransplantation. Improvement of the transplantation program improves the survival rate as well as the quality of life after transplantation. Survival after heart transplantation is 80% in one year and 50% in ten years interval. Better results can be achieved in neonates. Lack of donors, demanding economical and organisational conditions and the unresolved legislation problems preclude wider use of heart transplantation in children. Research for more effective, safer and cheaper pharmacotherapy in the prevention and treatment of rejection, infection and complications of immunosuppression is required. Long-term effects and the quality of life after heart transplantation in children, as well as possibilities of mechanical heart support and xenotransplantation must be also studied.
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PMID:[Heart transplantation in children]. 1284 Nov 21

Hypoplastic left heart syndrome (HLHS) is a fatal congenital heart disease in which the left side of the heart is underdeveloped, impairing the systemic circulation. Underdeveloped left ventricle exerts biomechanical stress on the right ventricle that can progress into heart failure. Genome-wide transcriptome changes have been identified at early stages in the right ventricle (RV) of infants with HLHS, although the molecular mechanisms remain unknown. Here, we demonstrate that the RNA binding protein Rbfox2, which is mutated in HLHS patients, is a contributor to transcriptome changes in HLHS patient RVs. Our results indicate that majority of transcripts differentially expressed in HLHS patient hearts have validated Rbfox2 binding sites. We show that Rbfox2 regulates mRNA levels of targets with 3'UTR binding sites contributing to aberrant gene expression in HLHS patients. Strikingly, the Rbfox2 nonsense mutation identified in HLHS patients truncates the protein, impairs its subcellular distribution and adversely affects its function in RNA metabolism. Overall, our findings uncover a novel role for Rbfox2 in controlling transcriptome in HLHS.
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PMID:Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts. 2748 10

Hypoplastic left heart syndrome (HLHS) is one of the most lethal congenital heart defects, and remains clinically challenging. While surgical palliation allows most HLHS patients to survive their critical heart disease with a single-ventricle physiology, many will suffer heart failure, requiring heart transplantation as the only therapeutic course. Current paradigm suggests HLHS is largely of hemodynamic origin, but recent findings from analysis of the first mouse model of HLHS showed intrinsic cardiomyocyte proliferation and differentiation defects underlying the left ventricular (LV) hypoplasia. The findings of similar defects of lesser severity in the right ventricle suggest this could contribute to the heart failure risks in surgically palliated HLHS patients. Analysis of 8 independent HLHS mouse lines showed HLHS is genetically heterogeneous and multigenic in etiology. Detailed analysis of the Ohia mouse line accompanied by validation studies in CRISPR gene-targeted mice revealed a digenic etiology for HLHS. Mutation in Sap130, a component of the HDAC repressor complex, was demonstrated to drive the LV hypoplasia, while mutation in Pcdha9, a protocadherin cell adhesion molecule played a pivotal role in the valvular defects associated with HLHS. Based on these findings, we propose a new paradigm in which complex CHD such as HLHS may arise in a modular fashion, mediated by multiple mutations. The finding of intrinsic cardiomyocyte defects would suggest hemodynamic intervention may not rescue LV growth. The profound genetic heterogeneity and oligogenic etiology indicated for HLHS would suggest that the genetic landscape of HLHS may be complex and more accessible in clinical studies built on a familial study design.
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PMID:The Genetic Landscape of Hypoplastic Left Heart Syndrome. 2956 26