Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome

1993 ◽  
Vol 90 (5) ◽  
Author(s):  
G.E. Davies ◽  
C.M. Howard ◽  
L.M. Gorman ◽  
M.J. Farrer ◽  
A.J. Holland ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Candidate Gene ◽  
Gene Cluster ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Dna Polymorphisms

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Congenital Heart Defects ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

scholarly journals Types and Distribution of Congenital Heart Defects in Pediatric Patients with Down’s Syndrome: A Retrospective Study

Cureus ◽  
2020 ◽  
Author(s):  
Asmaa Ghmaird ◽  
Tahani Nasser Alrashidi ◽  
Yazeed S Alqahtani ◽  
Ahmed H Alanazi ◽  
Yousef A Alaenzi ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Pediatric Patients ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

scholarly journals Congenital heart defects are under-recognised in adult patients with Down's syndrome

Heart ◽  
2010 ◽  
Vol 96 (18) ◽  
pp. 1480-1484 ◽  
Author(s):  
J. C. Vis ◽  
R. H. de Bruin-Bon ◽  
B. J. Bouma ◽  
S. A. Huisman ◽  
L. Imschoot ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Adult Patients

scholarly journals OC05.03: Maternal and fetal angiogenic imbalance in euploid and Down's syndrome congenital heart defects

2014 ◽  
Vol 44 (S1) ◽  
pp. 11-12
Author(s):  
E. Llurba ◽  
A. Ruiz ◽  
Q. Ferrer ◽  
O. Sánchez ◽  
L. Cabero ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden

2004 ◽  
Vol 14 (1) ◽  
pp. 24-31 ◽  
Author(s):  
Christina Frid ◽  
Gudrun Björkhem ◽  
Anders Jonzon ◽  
Jan Sunnegårdh ◽  
Göran Annerén ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Atrioventricular Septal Defect ◽  
Term Survival ◽  
Long Term Survival

Background:The survival for patients with atrioventricular septal defect has improved markedly over the last decades and, during the same period, the survival of children with Down's syndrome has also increased. The aim of our study was to investigate long-term survival in patients having atrioventricular septal defect with common valvar orifice, but without associated significant congenital heart defects, in the setting of Down's syndrome, comparing the findings to those in chromosomally normal children with the same malformation.Methods and results:In a population-based retrospective study, we scrutinised the medical records from 801 liveborn children with atrioventricular septal defect born in Sweden during the period 1973 through 1997. Data on gender, presence or absence of Down's syndrome, associated congenital heart defects, date of birth, operation and death were recorded and followed up until 2001. An isolated atrioventricular septal defect with common atrioventricular valvar orifice was present in 502 children, of whom 86% had Down's syndrome. We found a significant reduction over time in age at operation, and in postoperative mortality at 30 days, from 28 to 1%. Using a multiple logistic regression model, we found no significant differences in mortality between genders, nor between those with or without Down's syndrome. Early corrective surgery could not be identified as a significant independent factor for survival. The 5-year postoperative survival in patients with Down's syndrome increased from 65% over the period from 1973 through 1977, to about 90% in the period 1993 through 1997, and the same trend was observed in chromosomally normal patients.Conclusions:Survival in uncomplicated atrioventricular septal defect with common atrioventricular valvar orifice has greatly increased, and surgical correction is now equally successful in patients with Down's syndrome and chromosomally normal patients, and for both genders. Death in connection with surgery is no longer the major threat, and focus must now be on long-term follow-up.

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