PubMed · 13030413
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H M ROGERS, C C RUDOLPH. 1953. Persistent common atrioventricular canal.. https://doi.org/10.1016/0002-8703(53)90172-0
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BACKGROUND: Familial aggregation of congenital heart disease (CHD) has been well described in different populations, in particular those with a high consanguinity rate. Extensive genetic study of affected families has improved the understanding of basic genetics of different cardiac lesions. OBJECTIVE: To identify the role of consanguinity as a risk factor among familial cases of CHD in a stable outpatient population of a tertiary care center in the Eastern Province of Saudi Arabia. METHODS: All familial cases of CHD seen over 5 years (1996-2000) in the Division of Pediatric Cardiology were identified. The presence or absence of parental consanguinity (first cousin marriage) was defined in each of these families. RESULTS: Ninety-three cases were identified in 37 families. Twenty-three (62%) families resulted from consanguineous marriages. In 4 families where there were 2 marriages, the affected children came from the consanguineous marriage in 3 of these families. Discordant lesions occur only among non-consanguineous cases, while all consanguineous cases were concordant. Five sets of twins of the same sex (one set are monozygotic by DNA analysis) occurred among consanguineous marriages, in 3 of these both twins were affected with the same disease. Affected parents were seen in 2 families with consanguineous marriage and none in the non-consanguineous marriages. The prevalence of dilated cardiomyopathy was much higher among consanguineous cases (26 vs. 2). CONCLUSIONS: Familial aggregation of congenital heart disease is common in our population. Consanguinity is common in these families, and the distribution of congenital heart disease differs in this subgroup compared to the rest of the familial cases. Further genetic studies of these families may help to shed more light on basic genetics and the specific pathogenetic mechanisms involved.
OBJECTIVES: To assess whether vascular and other retroperitoneal anomalies are more frequent during retroperitoneal lymph node dissection (RPLND) for metastatic testicular tumours (when retroperitoneal masses persist after chemotherapy) than would be expected, based on the initial observations from one centre with a large experience of RPLND in the UK. PATIENTS AND METHODS: A prospective series of 278 consecutive patients treated with RPLND for testicular tumours comprised the sample population. For each patient the presence or absence of four factors from the history was recorded. Each patient then underwent RPLND. During surgery, a template was constructed of the anatomy of the retroperitoneum and the information stored. Eight different retroperitoneal anatomical anomalies were identified in the sample population; the incidence of each was then compared with the largest available study of a normal population, and differences analysed statistically. RESULTS: Of the 278 patients who had RPLND, 55 had 59 anomalies (21%), found by history and as retroperitoneal vascular and urological anomalies; cryptorchidism was present in 7.6%, 9.5 times the incidence in the control population (P < 0.01). A left-sided inferior vena cava was present in 3.6% of patients, 21 times the incidence in the control population (P < 0.001); a retro-aortic left renal vein in 3.2%, four times that in the control population (P < 0.05); and ipsilateral renal agenesis had an incidence of 1% in the test population, 11 times greater than in the control population (P < 0.01). CONCLUSIONS: This prospective study of 278 RPLNDs provides evidence that some retroperitoneal anatomical anomalies are associated with testicular germ cell tumours. The link between maldescent and testicular tumours, rather than an isolated association, should be considered as part of a spectrum of retroperitoneal anomalies that occur in these men.
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