Father and two children with total anomalous pulmonary venous connection

Father and two children with total anomalous pulmonary venous connection

Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease which, without surgical treatment, has a high mortality in the first year of life. Reports of familial recurrence of TAPVC have involved sibs, first cousins, and twins. This is the first report of...

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Veröffentlicht in:American journal of medical genetics 1991-07, Vol.40 (1), p.105-106
Hauptverfasser: Raisher, Bradley D., Dowton, S. Bruce, Grant, James W.
Format: Artikel
Sprache:eng
Schlagworte:
Adult
autosomal dominant inheritance
Biological and medical sciences
Cardiology. Vascular system
Congenital heart disease
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
Female
Genes, Dominant
genetic counseling
Heart
Heart Defects, Congenital - genetics
Heart Defects, Congenital - surgery
Humans
Infant
Infant, Newborn
Male
Medical sciences
Pulmonary Veins - abnormalities
Pulmonary Veins - surgery
total anomalous pulmonary venous connection
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Beschreibung
Zusammenfassung:Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease which, without surgical treatment, has a high mortality in the first year of life. Reports of familial recurrence of TAPVC have involved sibs, first cousins, and twins. This is the first report of TAPVC in a father and his 2 children. The implications for genetic counseling to families with this anomaly and individuals reaching adulthood after repair of TAPVC are considered.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320400122