scholarly journals CRISPR/Cas9 mediated establishment of a human CSRP3 compound heterozygous knockout hESC line to model cardiomyopathy and heart failure

2020 ◽  
Vol 49 ◽  
pp. 102077
Author(s):  
Liqiang Sun ◽  
Jing Li ◽  
En Li ◽  
Shaohui Niu ◽  
Zhiping Qin ◽  
...  
Keyword(s):  
Heart Failure ◽  
Compound Heterozygous ◽  
Hesc Line

scholarly journals Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene

2021 ◽  
Vol 9 ◽  
Author(s):  
Benzhen Wang ◽  
Zhanhui Du ◽  
Guangsong Shan ◽  
Chuanzhu Yan ◽  
Victor Wei Zhang ◽  
...  
Keyword(s):  
Heart Failure ◽  
Autosomal Recessive Disorder ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Skeletal Muscle Biopsy ◽  
Transmission Electron ◽  
Severe Manifestation ◽  
Acylglycerol Kinase ◽  
Sengers Syndrome

Sengers syndrome (OMIM #212350) is a rare autosomal recessive disorder due to mutations in acylglycerol kinase (AGK) gene. We report two cases that were diagnosed clinically and confirmed genetically. Both infants had typical clinical features characterized by hypertrophic cardiomyopathy, bilateral cataracts, myopathy, and lactic acidosis, and heart failure was the most severe manifestation. Genetic testing of a boy revealed a homozygous pathogenic variant for Sengers syndrome in AGK (c.1131+2T>C) which was classified as likely pathogenic according to the ACMG guideline; besides, his skeletal muscle biopsy and transmission electron microscope presented obvious abnormity. One girl had compound heterozygous (c.409C>T and c.390G>A) variants of AGK gene that was identified in the proband and further Sanger sequencing indicated that the parents carried a single heterozygous mutation each. After the administration of “cocktail” therapy including coenzyme Q10, carnitine, and vitamin B complex, as well as ACEI, heart failure and myopathy of the boy were significantly improved and the condition was stable after 1-year follow-up, while the cardiomyopathy of the girl is not progressive but the plasma lactate acid increased significantly. We present the first report of two infants with Sengers syndrome diagnosed via exome sequencing in China.

scholarly journals Generalized Arterial Calcification of Infancy

2019 ◽  
Vol 4 (1) ◽  
Keyword(s):  
Myocardial Infarction ◽  
Heart Failure ◽  
Pulmonary Artery ◽  
Respiratory Distress ◽  
Cause Of Death ◽  
Severe Hypertension ◽  
Arterial Calcification ◽  
Compound Heterozygous ◽  
Nucleotide Pyrophosphatase ◽  
Intravenous Pamidronate

A 33 weeks’ gestation female infant was in significant respiratory distress upon delivery and developed severe hypertension. An echocardiogram revealed biventricular hypertrophy and thickening of the aorta and pulmonary artery. Further imaging demonstrated calcifications in the vessels of the neck, abdomen and extremities and a diagnosis of generalized arterial calcification of infancy was made. She was treated with intravenous pamidronate but continued to deteriorate and died on day-5 of life. The autopsy confirmed heart failure and myocardial infarction as the cause of death. Molecular analysis of the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene revealed compound heterozygous mutations, confirming the diagnosis of generalized arterial calcification of infancy.

Early-Onset Heart Failure, Alopecia, and Cutaneous Abnormalities Associated with a Novel Compound Heterozygous Mutation in Desmoplakin

2014 ◽  
Vol 32 (1) ◽  
pp. 102-108 ◽  
Author(s):  
Nina K. Antonov ◽  
Mina Y. Kingsbery ◽  
Luis O. Rohena ◽  
Teresa M. Lee ◽  
Angela Christiano ◽  
...  
Keyword(s):  
Heart Failure ◽  
Early Onset ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous

Mitochondria in Cardiomyopathy: Alterations in Size, Number and Internal Structures

1968 ◽  
Vol 26 ◽  
pp. 126-127
Author(s):  
George Hug ◽  
William K. Schubert
Keyword(s):  
Heart Failure ◽  
Biochemical Analysis ◽  
Left Ventricular ◽  
Size Number ◽  
Internal Structures ◽  
Left Ventricular Outflow ◽  
Chest X Ray ◽  
Myocardial Fibers ◽  
Muscle Biopsies ◽  
Needle Liver Biopsy

A white boy six months of age was hospitalized with respiratory distress and congestive heart failure. Control of the heart failure was achieved but marked cardiomegaly, moderate hepatomegaly, and minimal muscular weakness persisted.At birth a chest x-ray had been taken because of rapid breathing and jaundice and showed the heart to be of normal size. Clinical studies included: EKG which showed biventricular hypertrophy, needle liver biopsy which showed toxic hepatitis, and cardiac catheterization which showed no obstruction to left ventricular outflow. Liver and muscle biopsies revealed no biochemical or histological evidence of type II glycogexiosis (Pompe's disease). At thoracotomy, 14 milligrams of left ventricular muscle were removed. Total phosphorylase activity in the biopsy specimen was normal by biochemical analysis as was the degree of phosphorylase activation. By light microscopy, vacuoles and fine granules were seen in practically all myocardial fibers. The fibers were not hypertrophic. The endocardium was not thickened excluding endocardial fibroelastosis. Based on these findings, the diagnosis of idiopathic non-obstructive cardiomyopathy was made.

Localization of endothelial nitric oxide synthase in the normal and failing human atrial myocardium

1996 ◽  
Vol 54 ◽  
pp. 786-787
Author(s):  
Chi-Ming Wei ◽  
Margarita Bracamonte ◽  
Shi-Wen Jiang ◽  
Richard C. Daly ◽  
Christopher G.A. McGregor ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Heart Failure ◽  
Nitric Oxide Synthase ◽  
Endothelial Nitric Oxide Synthase ◽  
Cardiac Tissues ◽  
Mammalian Tissues ◽  
End Stage Heart Failure ◽  
End Stage ◽  
Oxide Synthase ◽  
Endothelial Nitric Oxide

Nitric oxide (NO) is a potent endothelium-derived relaxing factor which also may modulate cardiomyocyte inotropism and growth via increasing cGMP. While endothelial nitric oxide synthase (eNOS) isoforms have been detected in non-human mammalian tissues, expression and localization of eNOS in the normal and failing human myocardium are poorly defined. Therefore, the present study was designed to investigate eNOS in human cardiac tissues in the presence and absence of congestive heart failure (CHF).Normal and failing atrial tissue were obtained from six cardiac donors and six end-stage heart failure patients undergoing primary cardiac transplantation. ENOS protein expression and localization was investigated utilizing Western blot analysis and immunohistochemical staining with the polyclonal rabbit antibody to eNOS (Transduction Laboratories, Lexington, Kentucky).

Protective role of peroxiredoxin-4 in heart failure

2020 ◽  
Vol 134 (1) ◽  
pp. 71-72
Author(s):  
Naseer Ahmed ◽  
Masooma Naseem ◽  
Javeria Farooq
Keyword(s):  
Heart Failure ◽  
Cardiac Fibroblasts ◽  
Protective Role ◽  
Oxidative Stress Markers ◽  
Stress Markers ◽  
Total Antioxidant ◽  
Galectin 3 ◽  
Consequent Increase ◽  
And Oxidative Stress

Abstract Recently, we have read with great interest the article published by Ibarrola et al. (Clin. Sci. (Lond.) (2018) 132, 1471–1485), which used proteomics and immunodetection methods to show that Galectin-3 (Gal-3) down-regulated the antioxidant peroxiredoxin-4 (Prx-4) in cardiac fibroblasts. Authors concluded that ‘antioxidant activity of Prx-4 had been identified as a protein down-regulated by Gal-3. Moreover, Gal-3 induced a decrease in total antioxidant capacity which resulted in a consequent increase in peroxide levels and oxidative stress markers in cardiac fibroblasts.’ We would like to point out some results stated in the article that need further investigation and more detailed discussion to clarify certain factors involved in the protective role of Prx-4 in heart failure.

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