Document Detail

Familial truncus arteriosus: a possible autosomal-recessive trait.
MedLine Citation:
PMID:  12574981     Owner:  NLM     Status:  MEDLINE    
Truncus arteriosus is a relatively uncommon congenital malformation. It accounts for approximately 1% of congenital heart diseases. The defect occurs sporadically but 22q11 deletion is frequently noted in such patients with conotruncal defects. We studied six cases of TA in four closely related families. Analysis of karyotypes in these cases was normal. Family 1 has one affected male infant who was born in 1998. Family 2 has two affected children (one male and one female) who were born in 1989 and 1995, respectively. They have four other normal children. Family 3 has two affected children (one male and one female) who were born in 1981 and 1984, respectively. They have three other normal children. Family 4 has one affected male born in 1998 and another healthy child. All parents of all affected children are double cousins. The data in this study are compatible with an autosomal-recessive inheritance, but multifactorial inheritance may also play a role.
L Abushaban; B Uthaman; A R Kumar; J Selvan
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric cardiology     Volume:  24     ISSN:  0172-0643     ISO Abbreviation:  Pediatr Cardiol     Publication Date:    2003 Jan-Feb
Date Detail:
Created Date:  2003-02-07     Completed Date:  2003-05-15     Revised Date:  2008-02-20    
Medline Journal Info:
Nlm Unique ID:  8003849     Medline TA:  Pediatr Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  64-6     Citation Subset:  IM    
Cardiology Department, Chest Hospital, Code 13110 Kuwait.
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MeSH Terms
Chromosome Aberrations
Chromosome Deletion
Chromosomes, Human, Pair 22 / genetics
Family Health
Genes, Recessive / genetics
Genetic Predisposition to Disease / genetics
Infant, Newborn
Multifactorial Inheritance / genetics
Truncus Arteriosus, Persistent / genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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