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Chromosomal abnormalities in patients with congenital heart disease
Insights
Chromosomal abnormalities (CAs) are common in congenital heart disease (CHD), affecting 16.8% of patients. Karyotyping is crucial for diagnosis, treatment, and genetic counseling in pediatric cardiology.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Cytogenetics
Background:
- Chromosomal abnormalities (CAs) are a significant cause of congenital heart disease (CHD).
- Understanding the spectrum of CAs in CHD is vital for comprehensive patient care.
Purpose of the Study:
- To determine the frequency, types, and clinical characteristics of chromosomal abnormalities (CAs) in patients with congenital heart disease (CHD).
Main Methods:
- Prospective evaluation of consecutive CHD patients during their first hospitalization.
- Clinical and cytogenetic assessment using high-resolution karyotyping.
- Statistical analysis including Chi-square, Fisher exact test, and odds ratio.
Main Results:
- Chromosomal abnormalities (CAs) were identified in 16.8% (50/298) of patients with congenital heart disease (CHD).
- The majority of CAs were numeric (88%), with Down syndrome (Trisomy 21) being the most frequent.
- Atrioventricular septal defect was the CHD most frequently associated with CAs.
Conclusions:
- Karyotyping frequently detects chromosomal abnormalities (CAs) in patients with congenital heart disease (CHD).
- Pediatric cardiologists must recognize the diagnostic, therapeutic, and prognostic implications of CAs.
- Karyotype results are essential for providing accurate genetic counseling to patients and families.
Background:
Chromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD).
Objective:
Determine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD.
Method:
Our 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).
Results:
Our 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.
Conclusions:
CAs 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.
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