BackgroundChromosomal abnormalities (CAs) are an important cause of congenital heart disease
(CHD).ObjectiveDetermine the frequency, types and clinical characteristics of CAs identified in a
sample of prospective and consecutive patients with CHD.MethodOur sample consisted of patients with CHD evaluated during their first
hospitalization in a cardiac intensive care unit of a pediatric referral hospital
in Southern Brazil. All patients underwent clinical and cytogenetic assessment
through high-resolution karyotype. CHDs were classified according to Botto et al.
Chi-square, Fisher exact test and odds ratio were used in the statistical analysis
(p < 0.05).ResultsOur sample consisted of 298 patients, 53.4% males, with age ranging from 1 day to
14 years. CAs were observed in 50 patients (16.8%), and 49 of them were syndromic.
As for the CAs, 44 (88%) were numeric (40 patients with +21, 2 with +18, 1 with
triple X and one with 45,X) and 6 (12%) structural [2 patients with der(14,21),
+21, 1 with i(21q), 1 with dup(17p), 1 with del(6p) and 1 with add(18p)]. The
group of CHDs more often associated with CAs was atrioventricular septal defect.ConclusionsCAs detected through karyotyping are frequent in patients with CHD. Thus,
professionals, especially those working in Pediatric Cardiology Services, must be
aware of the implications that performing the karyotype can bring to the
diagnosis, treatment and prognosis and for genetic counseling of patients and
families.
Some differences found may be explained by genetic factors and sociocultural diversity. In contrast, because CHD consists of a heterogeneous group of lesions, the etiology may vary. The standardization of research data and classification of methods for future studies are essential.
OBJECTIVE: To review the relationship between congenital heart defects and chromosomal
abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors
"karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The
research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and
not well understood group of lesions. Several researchers have evaluated the
presence of chromosomal abnormalities detected by the karyotype in patients with
congenital heart disease. However, most of the articles were retrospective studies
developed in Europe and only some of the studied patients had a karyotype exam. In
this review, only one study was conducted in Latin America, in Brazil. It is known
that chromosomal abnormalities are frequent, being present in about one in every
ten patients with congenital heart disease. Among the karyotype alterations in
these patients, the most important is the trisomy 21 (Down syndrome). These
patients often have associated extra-cardiac malformations, with a higher risk of
morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the
karyotype remains an essential tool in order to evaluate patients with congenital
heart disease. The detailed dysmorphological physical examination is of great
importance to indicate the need of a karyotype.
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