Mussa, Shafi

Background: Congenitally corrected transposition of the great arteries (ccTGA) is a rare disease of unknown cause. We aimed to better understand familial recurrence patterns. Methods: An international, multicentre, retrospective cohort study was conducted in 29 tertiary hospitals in 6 countries between 1990 and 2018, entailing investigation of 1043 unrelated ccTGA probands. Results: Laterality defects and atrioventricular block at diagnosis were observed in 29.9% and 9.3%, respectively. ccTGA was associated with primary ciliary dyskinesia in 11 patients. Parental consanguinity was noted in 3.4% cases. A congenital heart defect was diagnosed in 81 relatives from 69 families, 58% of them being first-degree relatives, including 28 siblings. The most prevalent defects in relatives were dextro-transposition of the great arteries (28.4%), laterality defects (13.6%), and ccTGA (11.1%); 36 new familial clusters were described, including 8 pedigrees with concordant familial aggregation of ccTGA, 19 pedigrees with familial co-segregation of ccTGA and dextro-transposition of the great arteries, and 9 familial co-segregation of ccTGA and laterality defects. In one family co-segregation of ccTGA, dextro-transposition of the great arteries and heterotaxy syndrome in 3 distinct relatives was found. In another family, twins both displayed ccTGA and primary ciliary dyskinesia. Conclusions: ccTGA is not always a sporadic congenital heart defect. Familial clusters as well as evidence of an association between ccTGA, dextro-transposition of the great arteries, laterality defects and in some cases primary ciliary dyskinesia, strongly suggest a common pathogenetic pathway involving laterality genes in the pathophysiology of ccTGA.

This study is a retrospective analysis of the influence of previous cardiac surgery on the outcome of heart transplantation in 118 consecutive recipients from January 1988 to December 1996. Group 1 consisted of 67 patients who had no previous sternotomy, group 2 was 33 patients who had one previous sternotomy, and group 3 was 18 patients who had two or more previous sternotomies. The three groups were demographically similar apart from the indication for transplantation and the sex distribution. Preoperative hemodynamic data, except systolic pulmonary artery pressure, were similar among the three groups. There was no significant difference in hospital mortality, 1-year and 5-year actuarial survival rates, incidence of renal dysfunction requiring dialysis, prolonged respiratory support, elevated total bilirubin, re-exploration for bleeding, incidence of mediastinitis, or postoperative hospital stay between the groups. The rejection-free and infection-free survival rates were similar in the three groups. However, previous sternotomy resulted in significantly longer cardiopulmonary bypass times and increased requirement for blood and blood products. The use of a cell saver limited the need for stored red blood cells. This study demonstrated no survival disadvantage of previous sternotomy in patients undergoing heart transplantation.