Chromosomal Abnormalities in Patients with Congenital Heart Disease

Abstract

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.

Assessment of Some Genetic and Environmental Risk Factors in Patients With Congenital Heart Diseases Associated With Pulmonary Hypertension

“…The frequency of chromosomal abnormalities identified in this study was (13.5%) in patients with CHDs associated with PH, 10.8% in patients with CHDs and the overall frequency reported was 12.1% and these results were similar to that found in the studies by Harris et al, 2003, Amorim et al, 2008and Trevisan et al, 2013 who found rates of 12.9-23.1%. But differences observed in relation to the study by Meberg et al, 2000, Bosi et al, 2003, Dadvand et al, 2009and Hartman et al, 2011 found rates of 3-12.1%.…”

“…Reviewing the literature and identified many studies which evaluated the frequency and types of chromosomal abnormalities reported in patients with congenital heart diseases (whether associated with PH or not) (Meberg et al, 2000;Bosi et al, 2003;Calzolari et al, 2003;Harris et al, 2003;Amorim et al, 2008;Dadvand et al, 2009;Hartman et al, 2011;Trevisan et al, 2013).…”

Clinical application of targeted next‐generation sequencing in fetuses with congenital heart defect

“…The genetic etiology of CHD is attributed to chromosomal anomalies and single‐gene disorders. Chromosomal anomalies identified through traditional karyotype analysis represent the underlying cause in 3–18% of patients affected by CHD, and the reported prevalence is higher when using techniques such as fluorescence in‐situ hybridization and chromosomal microarray analysis (CMA). Besides chromosomal anomalies, single‐gene disorders, in which gene mutations are associated with syndromic or non‐syndromic cardiac defects, also contribute to CHD.…”

Applications of Genome Editing Technology in Research on Chromosome Aneuploidy Disorders

“…The main clinical features of aneuploidy disorders include impairments of cognitive development and growth [2,49,50]. More than 30% of individuals with numerical chromosomal abnormalities have cardiac malformations [51][52][53][54].…”