Chromosomal study in congenital Heart diseases in 39 patients

Author Name(s): * Ravivarma, Umarji, Nandulkar, Venkatesh Naik, Sandhya
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Congenital heart disease (CHD) is the most common form of human birth defects accounting for about 30% of the total anomalies. The prevalence rate of CHD is 9 per 1000 live births. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. The aim of this study is to evaluate the CHD in Raichur district, Karnataka and Hyderabad, Andhra Pradesh. The study includes 39 patients with congenital heart defects & confirmation of the heart defects are accomplished by echocardiography. After written consent was obtained from the family members, 39 CHD patients were subjected for conventional cytogenetic studies. Chromosomal analysis was done by using GTG-staining banding. Out of 39 patients, 1 patient was with numerical abnormality (Trisomy 21) and reaming 38 patients were with normal chromosomes.


Congenital heart diseases, chromosomal analysis, Trisomy 21


Congenital heart disease (CHD) or congenital heart defect is defined as defect in the structure of the heart and great vessels which is present at birth. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern [1]. CHD is the most common birth defect & the leading cause of mortality in the 1st year of life with a prevalence of 9% in live births & 10% in aborted fetuses. In majority cases CHD occurs as an isolated malformation & however in 33% cases have associated anomalies [2].
Prevalence of CHD in population based studies world wise is found to be range between 1-150/1000 live births & in India it is found to range from 2.2 to 50.89/1000 live births [3]. Since in a large number of births in our country takes place at home & mostly unsupervised by a qualified doctor & a large number of CHD are critical & leading early death, we have no data on CHD prevalence [4]. Approximately 10% infant mortality in India may be because of CHD. Despite advance in medical & surgical care the etiology of the CHD is still not completely understood [5]. The cause for CHD can be categorized into 3 major groups such as chromosomal, single gene disorders (10-15%) and multiple factors (85-90%). Hence the identification of the chromosomal abnormalities can help the proper management of CHD.


In the present study Karyotype of CHD has been studied to confirm the diagnosis, to identify the chromosome or chromosomes causing CHD, to study the severity of the CHD, to determine the chance of occurrence of disease in consanguineous marriages and to provide the proper guidance and counseling to the families. Congenital heart disease (CHD) is the major cause of birth defects, and accounts for more deaths in the first year of life than any other disease or defect thou advance in medical & surgical procedures the etiology of the most cases is unknown. Advance in molecular technology & sequencing of human genome may play important role in identification of gene regulators. However in the present study those cases having normal karyotyping requires more specific molecular biological methods like FISH, PCR for further studies.

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