Systemic and pulmonary venous connections in visceral heterotaxy with asplenia : diagnostic and surgical considerations based on seventy-two autopsied cases

The boy: girl ratio was calculated for all live births with cardiac malformation in Bohemia (population 6.3 million) from 1977–1984. Complete coverage of all deceased children in Bohemia by necropsy and of all patients with heart disease by our center enabled us to collect reliable data. Of 4409 children born with a heart defect, there were 2296 boys and 2113 girls, a ratio of 1.09: 1. In the total population of 664,218 children born during the same period of time, the ratio was 1.06:1. A higher proportion of boys was found with double outlet right ventricle (2.68:1), hypoplastic left heart (2.25:1), transposition of the great arteries (2.11:1), aortic stenosis (1.95:1), pulmonary atresia (1.55:1), tricuspid atresia (1.45:1), coarctation of the aorta (1.30:1), and corrected transposition of the great arteries (1.25:1). There were significantly more girls than boys with persistent ductus arteriosus (1:1.66), Ebstein's anomaly of the tricuspid valve (1:1.57), truncus arteriosus (1:1.22), atrioventricular septal defect (1:1.17), and tetralogy of Fallot (1:1.12). The difference in sex prevalence in the remaining heart defects was less than 10%.

Boy:girl ratio in children born with different forms of cardiac malformation: a population-based study.

Quantitative morphometric techniques have been applied to the injected and inflated lung and to the heart in 9 infants with total anomalous pulmonary venous return dying with obstruction to pulmonary venous return. In 5 (mean age at death 55 days) pge 20 days) to an infradiaphragmatic site. Structural changes were present in the pulmonary circulation in all patients, even in the youngest, an 8-day-old child. In both types of total anomalous pulmonary venous return increased arterial muscularity was severe, as shown by increase in wall thickness and by extension of muscle into smaller and more peripheral arteries than normal; these changes tended to increase with age. Where the pulmonary venous blood drained to a supradiaphragmatic site, the severity of arterial medial hypertrophy correlated inversely with the magnitude of the pulmonary: systemic flow ratio, increasing as the pulmonary blood flow fell. Vein wall thickness was increased and in all but the youngest child the veins were 'arterialised'. At the lung periphery the arteries and alveoli appeared to have multiplied normally. Arterial size varied according to whether pulmonary venous blood drained above or below the diaphragm; the diameter of pre- and intra-acinar arteries was increased only in cases where the pulmonary venous return drained to a supradiaphragmatic site, being normal when it drained to an infradiaphragmatic site. In the heart the left ventricle was of normal size in all but one case. Dilation and severe hypertrophy of the right ventricle and septum were present only in cases of drainage to a supradiaphragmatic site. In the older patients with the latter anomaly dilation of the pulmonary arteries and right ventricle suggested that a large left-to-right shunt had preceded the onset of obstruction to pulmonary venous return and that the more severe right ventricular and septal hypertrophy in these cases might be the result of a longer duration of pulmonary hypertension. In contrast, in total anomalous pulmonary venous return to an infradiaphragmatic site it appears that obstruction to pulmonary venous return develops soon after birth and prevents a large increase in pulmonary blood flow, and thus neither the pulmonary arteries nor the right ventricle become dilated. In infants with total anomalous pulmonary venous return and obstruction to pulmonary venous return, it is striking how rapidly the pulmonary circulation develops new muscle.

https://heart.bmj.com/content/heartjnl/39/1/80.full.pdf

Structural study of pulmonary circulation and of heart in total anomalous pulmonary venous return in early infancy.

In total anomalous pulmonary venous return (TAPVR), the intrapulmonary venous plexus has failed to connect to the left atrium, so that the pulmonary veins drain into right atrial tributaries, frequently resulting in early postnatal circulatory distress The Baltimore-Washington Infant Study (BWIS), a population-based exploratory case-control study of cardiovascular malformations (CVM), identified 41 cases of TAPVR during 1981-1987: 15% of all CVM (N = 2659), a regional prevalence of 68/100,000 live births Of the TAPVR infants, 68% were diagnosed as neonates, 88% had surgery, and 512% were alive at 1 year of age Noncardiac malformations were present in nine cases (22%); the male-female ratio was 078 (1823) Compared with a control group representative of the birth cohort (N = 2,801), more TAPVR patients had low birthweight (less than 2,500 g: 162% vs 69%, short gestational age (less than 38 weeks: 189% vs 93%), and intrauterine growth retardation (IUGR) (268% vs 58%) Sociodemographic findings were similar to those of controls, except that fewer TAPVR mothers received private pregnancy care (595% vs 714%) Family history revealed no other TAPVR-affected members, but a significant linear trend of increased risk was found over the ordered malformation categories (familial noncardiac, cardiac, both) Bivariate analysis of TAPVR and exposure in life-style, hobbies, and work showed possible associations for exposure to lead (OR 29; 99% confidence interval [CI]: 12, 72), painting/paint stripping (OR 33; 99% CI: 13, 84), lead soldering (OR 133; 99% CI: 18, 992), and pesticides (OR 27; 99% CI: 12, 64) Multivariate analysis suggested an interaction between pesticide exposure and family history and, thus, a possible familial susceptibility to environmental teratogens Although the number of TAPVR cases is small, this epidemiologic study identifies hypotheses that may be further explored in morphogenetic and epidemiology studies Total anomalous pulmonary venous return (TAPVR) constitutes a well-defined clinical entity in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or its systemic venous tributaries (Neill, '56; Rowe et al, '81) During intrauterine life, the malformation does not compromise the fetal circulation, since the pulmonary arterial resistance is high and the patent foramen ovale provides easy access of right atrial blood to the left side of the heart At birth, however, the pulmonary vascular resistance begins to fall, and the presence of a severe hemodynamic disturbance becomes increasingly evident (Ferencz et al, '71)(ABSTRACT TRUNCATED AT 400 WORDS)

Georges Delisle

Papers

Total anomalous pulmonary venous connection: Report of 93 autopsied cases with emphasis on diagnostic and surgical considerations.