Biomaterial Database

Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: an autosomal recessive disorder? 1989

D F Nordenberg, and B Hanna, and J C Fouron, and V M Der Kaloustian

Department of Pediatrics, McGill University, Montreal, Quebec, Canada.

We report on two sisters with secundum atrial septal defect, perimembranous ventricular septal defect, and coarctation of the aorta. Identical anatomical malformations were verified by echocardiography and at operation. No other affected relatives were identified. We suggest that this is a specific, possibly recessively inherited type of complex cardiac malformation.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002869	Chromosome Aberrations	Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.	Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D004452	Echocardiography	Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.	Echocardiography, Contrast,Echocardiography, Cross-Sectional,Echocardiography, M-Mode,Echocardiography, Transthoracic,Echocardiography, Two-Dimensional,Transthoracic Echocardiography,2-D Echocardiography,2D Echocardiography,Contrast Echocardiography,Cross-Sectional Echocardiography,Echocardiography, 2-D,Echocardiography, 2D,M-Mode Echocardiography,Two-Dimensional Echocardiography,2 D Echocardiography,Cross Sectional Echocardiography,Echocardiography, 2 D,Echocardiography, Cross Sectional,Echocardiography, M Mode,Echocardiography, Two Dimensional,M Mode Echocardiography,Two Dimensional Echocardiography
D005260	Female		Females
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006344	Heart Septal Defects, Atrial	Developmental abnormalities in any portion of the ATRIAL SEPTUM resulting in abnormal communications between the two upper chambers of the heart. Classification of atrial septal defects is based on location of the communication and types of incomplete fusion of atrial septa with the ENDOCARDIAL CUSHIONS in the fetal heart. They include ostium primum, ostium secundum, sinus venosus, and coronary sinus defects.	Atrial Septal Defects,Ostium Primum Atrial Septal Defect,Persistent Ostium Primum,Atrial Septal Defect,Atrial Septal Defect Ostium Primum,Ostium Secundum Atrial Septal Defect,Defect, Atrial Septal,Ostium Primum, Persistent,Primum, Persistent Ostium,Septal Defect, Atrial
D006345	Heart Septal Defects, Ventricular	Developmental abnormalities in any portion of the VENTRICULAR SEPTUM resulting in abnormal communications between the two lower chambers of the heart. Classification of ventricular septal defects is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.	Ventricular Septal Defects,Intraventricular Septal Defects,Ventricular Septal Defect,Defect, Intraventricular Septal,Defect, Ventricular Septal,Defects, Intraventricular Septal,Intraventricular Septal Defect,Septal Defect, Intraventricular,Septal Defect, Ventricular,Septal Defects, Intraventricular,Septal Defects, Ventricular
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001017	Aortic Coarctation	A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion.	Coarctation of Aorta,Coarctation of Aorta Dominant,Coarctation of the Aorta,Aorta Coarctation,Aorta Coarctations,Aorta Dominant Coarctation,Aorta Dominant Coarctations,Aortic Coarctations,Coarctation, Aortic,Coarctations, Aortic