Ventricular septal defect with mobile tricuspid valve pouch mimicking tetralogy of Fallot. 1986

G L Johnson, and W N O'Connor, and S M Verble, and C M Cottrill, and J A Noonan

A newborn with partial deletion of the long arm of chromosome six presented with cyanosis at birth. Initial studies suggested the diagnosis of tetralogy of Fallot and the infant underwent a Waterston shunt procedure with subsequent clinical improvement. The infant subsequently died of unrelated causes. Autopsy revealed a ventricular septal defect and a dysplastic pouchlike structure related to an anomalous tricuspid valve leaflet which obstructed right ventricular outflow. Classical anatomic findings of tetralogy of Fallot were absent. Clinical and echocardiographic findings that would be expected to aid early diagnosis of future cases are presented.

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
D008297 Male Males
D009206 Myocardium The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow. Muscle, Cardiac,Muscle, Heart,Cardiac Muscle,Myocardia,Cardiac Muscles,Heart Muscle,Heart Muscles,Muscles, Cardiac,Muscles, Heart
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002896 Chromosomes, Human, Pair 6 A specific pair GROUP C CHROMSOMES of the human chromosome classification. Chromosome 6
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006328 Cardiac Catheterization Procedures in which placement of CARDIAC CATHETERS is performed for therapeutic or diagnostic procedures. Catheterization, Cardiac,Catheterization, Heart,Heart Catheterization,Cardiac Catheterizations,Catheterizations, Cardiac,Catheterizations, Heart,Heart Catheterizations
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
D013771 Tetralogy of Fallot A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS. Fallot's Tetralogy,Tetralogy, Fallot's,Fallot Tetralogy,Fallots Tetralogy,Tetralogy, Fallot,Tetralogy, Fallots

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