Discordant ventriculo‐arterial connections, or “transposition”, are not necessarily an essential part of isomerism

Loomba, Rohit S.; Anderson, Robert H.

doi:10.1111/cga.12195

Cited by 1 publication

(1 citation statement)

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“…5,12 Based on these limited data, authors postulated that these 2 distinct entities may share a common genetic background, a hypothesis that has remained controversial. 13,14 Our study lends credence to this notion by documenting co-occurrence of isolated ccTGA, isolated d-TGA and laterality defects in some families. This evidence suggests the potential for mutations in genes affecting the left-right patterning process to underlie these 2 distinct cardiac phenotypes.…”

Section: Discussionsupporting

confidence: 65%

Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study

Tortigue

Nield

Karakachoff

et al. 2022

Circ: Genomic and Precision Medicine

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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.

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