The Prevalence and Type of Congenital Heart Diseases in Cytogenetic and Monogenic Chromosomal Rearrangements

Abstract

In this study, it was aimed to investigate the pattern of congenital heart diseases in cytogenetic and monogenic chromosomal rearrangements. The pediatric age group patients who had been followed between January 2009 and December 2014 by the Genetic Department because of their syndromic manner were enrolled in the study. A total of 301 patients with clinical features were evaluated for cardiac diseases. Echocardiography and standard karyotype studies were performed in all patients. Statistically significant difference of congenital heart disease prevalence between numerical and structural chromosomal abnormalities was found in terms of appearance (p < 0.001). Congenital heart diseases prevalence was 62.5% in trisomy 21, 91% in trisomy 18, and 100% in trisomy 13. Fourteen percent of Turner syndrome patients and 8% of patients with other sex chromosome abnormalities had congenital heart diseases. VACTERL association and DiGeorge syndrome were accompanied by congenital heart diseases with the same rate of 73%. Congenital heart diseases prevalence was 50% among the Williams syndrome patients and 42.4% among the Noonan syndrome patients. There was dilated cardiomyopathy in a patient who was diagnosed with Alstrom syndrome. The prevalence of congenital heart diseases in derivative chromosomal anomalies was statistically significantly higher than the other chromosomal abnormalities with the rate of 62.5% (p < 0.001). Complex cardiac malformations are seen in patients with autosomal chromosomal aneuploidies rather than in patients with sex chromosomal aneuploidies and single gene mutations. CHD has been found with a higher rate in patients with derivative chromosome abnormalities compared with the other structural chromosome abnormalities like deletion, inversion, and translocation. We believe that the patients who are diagnosed with derivative chromosomal abnormalities as a result of genetic testing should be considered for cardiac malformations.