Genetic imbalances in Argentinean patients with congenital conotruncal heart defects

DELEA, M.; ESPECHE LD; BRUQUE C.D.; BIDONDO MA. PAZ; MASSARA S; OLIVERI J; BRUN P; COSENTINO V; MARTINOLI C; TOLABA N; PICON C; PONCE ZALDUA ME; AVILA S; GUTNISKY V; PEREZ M; FURFORO L; BUZALINO N; LIASCOVICH R; GROISMAN B; RITTLER M; ROZENTAL SANDRA; BARBERO PABLO; DAIN L

Genes

MDPI

Año: 2018 vol. 9

2073-4425

Congenital conotruncal heart defects (CCHD) are a subset of serious CHD of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1,000 live births, accounting for approximately 10-30% of all CHD cases. Chromosomal abnormalities and CNVs contribute to the disease risk in patients with syndromic and/or non-syndromic forms. Although largely studied in several populations, their frequencies are barely reported for Latin American countries. The aim of this study was to analyze chromosomal abnormalities, 22q11 deletions, and other genomic imbalances in a group of Argentinean patients with CCHD of unknown etiology. A cohort of 219 patients with isolated CCHD or associated with other major anomalies were referred from different provinces of Argentina. Cytogenetic studies, Multiplex-Ligation-Probe-Amplification and FISH analysis were performed. No cytogenetic abnormalities were found. 22q11 deletion was found in 23.5% of the patients from our cohort, 66% only had the CHD with no other major anomalies. None of the patients with transposition of the great vessels (TGV) carried the 22q11 deletion. Other 4 clinically relevant CNVs were also observed: a distal LCR D-E 22q11 duplication, and 17p13.3, 4q35 and TBX1 deletions. In summary, 25.8% of the CCHD patients presented imbalances associated with the disease.