High-Frequency Jet Ventilation in Infants with Congenital Heart Disease

2021 ◽  
pp. respcare.09186
Author(s):  
Andrew G Miller ◽  
Briana L Scott ◽  
Rachel M Gates ◽  
Kaitlyn E Haynes ◽  
Denise A Lopez Domowicz ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Frequency ◽  
Congenital Heart ◽  
Jet Ventilation ◽  
High Frequency Jet Ventilation

1002: High-Frequency Jet Ventilation Improves CO2 Clearance in Children With Congenital Heart Disease

2020 ◽  
Vol 49 (1) ◽  
pp. 499-499
Author(s):  
Briana Scott ◽  
Andrew Miller ◽  
Rachel Gates ◽  
Kaitlyn Haynes ◽  
Denise Lopez Domowicz ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Frequency ◽  
Congenital Heart ◽  
Jet Ventilation ◽  
High Frequency Jet Ventilation

FAMILIAL NATURE OF CONGENITAL HEART DISEASES

PEDIATRICS ◽  
1966 ◽  
Vol 37 (2) ◽  
pp. 329-334
Author(s):  
James J. Nora ◽  
Thomas C. Meyer
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Frequency ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases ◽  
Congenital Disease ◽  
Simple Method ◽  
The Family

A two-year investigation of 517 families selected through a proband having a congenital heart disease suggests a higher frequency of familial congenital disease than has been reported before. Many previously undiagnosed parents and siblings of the probands were discovered by the simple method of listening to their hearts. Although figures of 3.4% affected sibs and 1.8% affected parents are presented, it is emphasized that these figures are used only to call attention to the high frequency of familial congenital heart diseases. The figures are not suggested as empiric risks because "congenital heart disease" is more appropriately a category of diseases than a discrete disease. An awareness that familial congenital heart diseases are perhaps not as uncommon as previously reported places a responsibility on the examining physician to other members of the family as well as to the patient.

Malformations Complexes des Membres Supérieurs Associées à une Cardiopathie Congénitale. À propos de six observations

1965 ◽  
Vol 14 (2) ◽  
pp. 132-163 ◽  
Author(s):  
I. Emerit ◽  
J. de Grouchy ◽  
M. Laval-Jeantet ◽  
P. Corone ◽  
P. Vernant
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
High Frequency ◽  
Congenital Heart ◽  
Septal Defect ◽  
The Other ◽  
Upper Limbs ◽  
Cardiopathie Congénitale ◽  
Heart Malformations

SUMMARYThe authors report on six patients exhibiting a congenital heart disease and malformations of the upper limbs. In two of them this association is similar to that described by Holt and Oram in 1960: atrial septal defect, heart arrythmia and abnormal thumbs. The other four patients have the same skeletal anomalies but different heart malformations. Dermatoglyphic studies revealed a high frequency of a distal position of the axial triradius and of an equivalent of a simian crease. The karyotypes are all normal. The etiology is discussed.

scholarly journals A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease

2019 ◽  
Vol 11 (4) ◽  
pp. 287-299 ◽  
Author(s):  
Samira Kalayinia ◽  
Serwa Ghasemi ◽  
Nejat Mahdieh
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Frequency ◽  
In Silico ◽  
Congenital Heart ◽  
In Silico Analysis ◽  
Computational Tools ◽  
Phred Score ◽  
Functional Consequences ◽  
Silico Analysis

Introduction: Congenital heart disease (CHD) affects 1% to 2 % of live births. The Nkx2-5 gene, is known as the significant heart marker during embryonic evolution and it is also necessary for the survival of cardiomyocytes and homeostasis in adulthood. In this study, Nkx2-5 mutations are investigated to identify the frequency, distribution, functional consequences of mutations by using computational tools. <br /> Methods: A complete literature search was conducted to find Nkx2-5 mutations using the following key words: Nkx2-5 and/or CHD and mutations. The mutations were in silico analyzed using tools which predict the pathogenicity of the variants. A picture of Nkx2-5 protein and functional or structural effects of its variants were also figured using I-TASSER and STRING.<br /> Results: A total number of 105 mutations from 18 countries were introduced. The most (24.1%) and the least (1.49%) frequency of Nkx2-5 mutations were observed in Europe and Africa, respectively. The c.73C>T and c.533C>T mutations are distributed worldwide. c.325G>T (62.5%) and c.896A>G (52.9%) had the most frequency. The most numbers of Nkx2-5 mutations were reported from Germany. The c.541C>T had the highest CADD score (Phred score = 38) and the least was for c.380C>A (Phred score=0.002). 41.9% of mutations were predicted as potentially pathogenic by all prediction tools. <br /> Conclusion: This is the first report of the Nkx2-5 mutations evaluation in the worldwide. Given that the high frequency of mutation in Germany, and also some mutations were seen only in this country, therefore, presumably the main origin of Nkx2-5 mutations arise from Germany.

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