Familial total anomalous pulmonary venous return.

Abstract

Total anomalous pulmonary venous return is a rare congenital cardiovascular anomaly causing death within the first few months of life.The cases presented here, are to the authors' knowledge the first reports of the familial recurrence of this anomaly to be published. Case ReportsThree patients affected with total anomalous pulmonary venous return were detected within one single family (Fig.). A detailed clinical picture of these patients will be published elsewhere.mother was 24 and his father 26 years old, and both of them were healthy, at the time of birth; birth weight was 2800 g. The first abnormal signs were pallor and weak suction at the age of 15 days. At 30 days of age the baby presented dyspnoea while feeding, tachycardia, and a chest deformity with an increased anteroposterior diameter. He developed an uncompensated cardiac failure and died at the age of 60 days. Cyanosis was never observed. Necropsy revealed that the 4 pulmonary veins emptied into a common sac which continued through the right azygos, skirting the trachea by its right border, and ending as usual in the superior vena cava. No other congenital malformations were diagnosed.

Father and two children with total anomalous pulmonary venous connection

“…The location of the anomalous connection is a secondary phenomenon. This is supported by the heterogeneity in the anatomic site of connection of the pulmonary to systemic venous drainage in this family and of the other reports of familial TAPVC [Delisle et al, 1976;Kaufman et al, 1972;Milner et al, 1977;Paz and Castilla, 1971;Soymar et al, 19871.…”

“…TAPVC is a rare anomaly which usually occurs sporadically with an incidence of 4-6 : 100,000 live births [Fyler, 19801, and is presumed to be multifactorially determined. &ports of familial recurrence of isolated TAPVC have involved sibs, first cousins, and twins [Baron et al, 1982;Clarke et al, 1973;Delisle et al, 1976;Gathman and Nadas, 1970;Gleason, 1989;Kaufman et al, 1972;Milner et al, 1977;Paz and Castilla, 1971;Solymar et al, 19871. No apparent gender predilection has been evident.…”

“…Familial occurrence of TAPVC is rare, although occurrence in sibs [Baron et al, 1982;Clarke et al, 1973;Delisle et al, 1976;Gathman and Nadas, 1970;Kaufman et al, 1972;Milner et al, 1977;Paz and Castilla, 1971;Solymar et al, 19871, first cousins [Kaufman et al, 1972;Paz and Castilla, 19711, and twins [Delisle et al, 1976;Gleason, 1989;Milner et al, 19771 has been described. The following is the first report suggesting autosomal dominant inheritance of TAPVC in a family in which a parent and his 2 children were affected.…”

On being a medical geneticist

“…This report deserved 19 words in OMIM, under # 106700, for TAPVR1, Gene Map Locus: 4p13-q12, by epigrammatically stating: ''In 2 brothers and a male paternal first cousin, Paz and Castilla [1971] observed total anomalous pulmonary venous return. ''…”

“…A report was published in a mainstream journal, concluding that: ''If this hypothesis (epistasis) is correct, many of the cases of TAPVR would be fresh mutants for a single gene, not transmitted because of fatality'' [Paz and Castilla, 1971]. This report deserved 19 words in OMIM, under # 106700, for TAPVR1, Gene Map Locus: 4p13-q12, by epigrammatically stating: ''In 2 brothers and a male paternal first cousin, Paz and Castilla [1971] observed total anomalous pulmonary venous return.…”