Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects

2018 ◽  
Vol 13 (3) ◽  
pp. 483-487 ◽  
Author(s):  
Alka Anilkumar ◽  
D. M. Vasudevan ◽  
Mahesh Kappanayil ◽  
K. R. Sundaram ◽  
R. Krishna Kumar ◽  
...  
Keyword(s):  
Heart Defects ◽  
22Q11 Deletion ◽  
Conotruncal Heart Defects ◽  
Chromosome 22Q11

scholarly journals Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Eda-Cristina Abuchaibe ◽  
Nancy Dobrolet ◽  
Katherine Peicher ◽  
Roque Ventura ◽  
Elizabeth Welch
Keyword(s):  
Learning Disability ◽  
Congenital Heart ◽  
Heart Defects ◽  
Aneurysm Rupture ◽  
Deletion Syndrome ◽  
22Q11 Deletion ◽  
Sinus Of Valsalva ◽  
Sinus Of Valsalva Aneurysm ◽  
First Case ◽  
Chromosome 22Q11

Sinus of Valsalva aneurysm (SVA) is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula. There are many congenital heart defects associated with chromosome 22q11 deletion, especially involving the aortic arch and its branches. SVA is not an anomaly usually associated with chromosome 22 deletion. We report the case of a 19-year-old female who presented to our institution with SVA rupture. She was subsequently diagnosed with chromosome 22q11 deletion syndrome. Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. We report the first case where aneurysm rupture preceded the chromosomal findings. Chromosome 22q11 deletion could be missed due to either the unfamiliarity of physicians with the syndrome or the variability and subtlety of the phenotype. This was demonstrated by our patient who, at age 19 after presenting with an SVA rupture, prompted physicians to find an explanation for her coexisting dysmorphic features and her learning disability.

Chromosome 22q11 Deletions in Patients with Conotruncal Heart Defects

2005 ◽  
Vol 26 (5) ◽  
pp. 570-573 ◽  
Author(s):  
A. Khositseth ◽  
C. Tocharoentanaphol ◽  
P. Khowsathit ◽  
N. Ruangdaraganon
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects ◽  
Chromosome 22Q11

scholarly journals Chromosome 22q11 microdeletion and isolated conotruncal heart defects

1997 ◽  
Vol 76 (1) ◽  
pp. 79-79 ◽  
Author(s):  
M C DIGILIO ◽  
B MARINO ◽  
A GIANNOTTI ◽  
B DALLAPICCOLA
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects ◽  
Chromosome 22Q11

scholarly journals Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

Genes ◽  
2018 ◽  
Vol 9 (9) ◽  
pp. 454 ◽  
Author(s):  
Marisol Delea ◽  
Lucía Espeche ◽  
Carlos Bruque ◽  
María Bidondo ◽  
Lucía Massara ◽  
...  
Keyword(s):  
Latin American ◽  
Chromosomal Abnormalities ◽  
Disease Risk ◽  
Heart Defects ◽  
Copy Number Variants ◽  
Unknown Etiology ◽  
Fish Analysis ◽  
22Q11 Deletion ◽  
Conotruncal Heart Defects ◽  
Genomic Imbalances

Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10–30% of all CHD cases. Chromosomal abnormalities and copy number variants (CNVs) contribute to the disease risk in patients with syndromic and/or non-syndromic forms. Although largely studied in several populations, their frequencies are barely reported for Latin American countries. The aim of this study was to analyze chromosomal abnormalities, 22q11 deletions, and other genomic imbalances in a group of Argentinean patients with CCHD of unknown etiology. A cohort of 219 patients with isolated CCHD or associated with other major anomalies were referred from different provinces of Argentina. Cytogenetic studies, Multiplex-Ligation-Probe-Amplification (MLPA) and fluorescent in situ hybridization (FISH) analysis were performed. No cytogenetic abnormalities were found. 22q11 deletion was found in 23.5% of the patients from our cohort, 66% only had CHD with no other major anomalies. None of the patients with transposition of the great vessels (TGV) carried the 22q11 deletion. Other 4 clinically relevant CNVs were also observed: a distal low copy repeat (LCR)D-E 22q11 duplication, and 17p13.3, 4q35 and TBX1 deletions. In summary, 25.8% of CCHD patients presented imbalances associated with the disease.

scholarly journals Isolated conotruncal heart defects are really related to microdeletion of chromosome 22q11?

1996 ◽  
Vol 27 (2) ◽  
pp. 93 ◽  
Author(s):  
Maria C. Digilio ◽  
Bruno Marino ◽  
Rita Mingarelli ◽  
Giuseppe Novelli ◽  
Francesca Amati ◽  
...  
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects ◽  
Chromosome 22Q11

Cortical dysgenesis in 2 patients with chromosome 22q11 deletion

2000 ◽  
Vol 58 (1) ◽  
pp. 64-68 ◽  
Author(s):  
Lynne M. Bird ◽  
Peter Scambler
Keyword(s):  
22Q11 Deletion ◽  
Cortical Dysgenesis ◽  
Chromosome 22Q11

scholarly journals One-carbon metabolite levels in mid-pregnancy and risks of conotruncal heart defects

2014 ◽  
Vol 100 (2) ◽  
pp. 107-115 ◽  
Author(s):  
Gary M. Shaw ◽  
Wei Yang ◽  
Suzan L. Carmichael ◽  
Stein Emil Vollset ◽  
Charlotte A. Hobbs ◽  
...  
Keyword(s):  
Heart Defects ◽  
Conotruncal Heart Defects
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