scholarly journals A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Jia Chen ◽  
Huizhen Yuan ◽  
Kang Xie ◽  
Xinrong Wang ◽  
Linglong Tan ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Heart Defects ◽  
Nonsense Mutation ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Chinese Family

scholarly journals A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

2011 ◽  
Vol 19 (7) ◽  
pp. 820-826 ◽  
Author(s):  
Judith B A van de Meerakker ◽  
Klaartje van Engelen ◽  
Inge B Mathijssen ◽  
Ronald H Lekanne dit Deprez ◽  
Jan Lam ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Autosomal Dominant Condition ◽  
Chromosome 9Q ◽  
Dominant Condition ◽  
Atrial Rhythm

scholarly journals A Case of Situs Ambiguous and Complex Cardiac Defect Presenting as Fetal Hydrops

2017 ◽  
Vol 02 (02) ◽  
pp. 060-063
Author(s):  
Shagun Aggarwal
Keyword(s):  
Case Report ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cardiac Defect ◽  
Fetal Hydrops ◽  
Cardiac Defects ◽  
Live Births ◽  
Situs Ambiguous ◽  
Laterality Defects

AbstractSitus ambiguous comprises of 3% of congenital heart defects and is present in at least 1 in 10,000 live births. Most cases diagnosed prenatally are associated with complex cardiac defects which can be detected by ultrasonography. This is a case report of a fetus presenting with hydrops, which was detected to have situs ambiguous, a complex cardiac defect and multiple laterality defects on autopsy.

HOLT-ORAM SYNDROME: RARE CASE SERIES

2021 ◽  
pp. 46-47
Author(s):  
Mahendar Reddy Muskula ◽  
Roshin P ◽  
Ajay J ◽  
Sanjeev Chetty
Keyword(s):  
Congenital Heart Defects ◽  
Upper Limb ◽  
Rare Case ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Case Series ◽  
Rare Disorder ◽  
Autosomal Dominant Disorder ◽  
Limb Malformations

The upper limb malformations in association with congenital heart defects occurring as autosomal dominant disorder are seen in Holt-Oram syndrome. It is a very rare disorder which can be detected with early prenatal ultrasound checkups. Here we are reporting two cases of holt-oram syndrome

scholarly journals Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

2017 ◽  
Vol 49 (4) ◽  
pp. 613-617 ◽  
Author(s):  
Xia Wang ◽  
Wu-Lin Charng ◽  
Chun-An Chen ◽  
Jill A Rosenfeld ◽  
Aisha Al Shamsi ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Germline Mutations ◽  
Skeletal Malformations
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