Mikrodelece 22q11 u konotrunkálních malformací srdce

Cor Vasa 2003, 44(4):181-184

22q11 microdeletion in conotruncated heart malformations

Jaroslav Homola^1,*, Sultán Karamanov², Vladimír Satrapa¹, Josef Kofer², Petr Homola¹: ¹ Dětská klinika IPVZ; ² Oddělení lékařské genetiky, Masarykova nemocnice, Ústí nad Labem, Česká republika

Aim:
To evaluate the incidence of chromosome 22q11 microdeletion in the prenatal and postnatal populations of patients, resident in North Bohemia, with conotruncated heart malformations.

Method:
In the 1998-2002 period, 22q11 microdeletion was assessed in all 78 prenatally diagnosed cases of congenital heart disease; conotruncated type disease was present in 26 fetuses. The diagnosis of congenital heart disease was established using fetal echocardiography at a mean fetal gestation age of 19.9 weeks. In the postnatal period, 22q11 microdeletion was assessed in 94 children and adolescents with a mean age of 7.8 years. The only indication for molecular genetic investigation (FISH and Multicolor FISH) was the presence of conotruncated congenital heart disease verified by echocardiography, or status following its surgical correction.

Results:
In the whole series of 172 prenatal and postnatal patients with congenital heart disease, 22q11 microdeletion was identified in 11 cases (6.4%). There were 120 conotruncated type disease carriers in the group, with 10 (8.3%) found to have positive 22q11 microdeletion. In most cases, the microdeletion was associated with aortic arch interruption (40%). In all patients, the 22q11 microdeletion occurred de novo as none of the parents of positive patients was a carrier of the abnormality.

Conclusions:
22q11 microdeletion is the second most frequent chromosomal aberration after trisomy 21 (Down's syndrome). Its detection in patients with conotruncated anomalies of the heart is a prognostic risk factor in prenatal and postnatal periods given its potential association with immune deficiency, hypoparathyroidism, mental retardation of various degrees, psychotic disease, and the presence of some extracardiac anomalies, primarily in the central nervous system and uropoetic tract.