What is it about?
Congenital Heart Defects and Non-Cardiac Malformations in Patients with Normal Karyotype
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Why is it important?
Context: Present study is based on the available data on patients with heart defects. Aim: The presence of noncardiac malformations in patients with heart defects and normal karyotype is reported. Settings and Design: Division of Human Genetics, St John’s Medical College, Bangalore is a referral centre for genetic counseling. Methods and Material: Information was gathered from 10 male and 8 female patients. Their age ranged from neonates to 16 years. Statistical analysis: Percentage analysis is calculated. Results: A total of 26 CHDs were noted and 38 NCMs were observed in 5 systems (skeletal, central nervous, digestive, urogenital, respiratory system). Malformations noted in male were 22 (58%) and in female 16 (42%). Heart defects observed in male were 16 (61.5%) and in female 10 (38.5%). Malformations in 2 systems have occurred 9 times (50%); in which skeletal anomalies were 15 (39.5%). Single heart defects have occurred 12 times and in that ventricular septal defects were 7 times (27%). In male patients, skeletal anomalies (9), ventricular septal defects (4) and malformations in 2 systems (5) were prevalent. The association between the types of heart defects versus malformations showed that in male atrial septal defects were associated to 5 system anomalies and in female dextrocardia to 4 system anomalies. Conclusions: The study has reported the presence of 38 malformations in 18 patients with 26 heart defects and normal karyotype. Two system anomalies; defects in skeletal system and associations of malformations to ventricular septal defects were found to be frequent. Patients and families were counseled and were recommended for medical and surgical management of malformations and heart defects.
Perspectives
Context: Present study is based on the available data on patients with heart defects. Aim: The presence of noncardiac malformations in patients with heart defects and normal karyotype is reported. Settings and Design: Division of Human Genetics, St John’s Medical College, Bangalore is a referral centre for genetic counseling. Methods and Material: Information was gathered from 10 male and 8 female patients. Their age ranged from neonates to 16 years. Statistical analysis: Percentage analysis is calculated. Results: A total of 26 CHDs were noted and 38 NCMs were observed in 5 systems (skeletal, central nervous, digestive, urogenital, respiratory system). Malformations noted in male were 22 (58%) and in female 16 (42%). Heart defects observed in male were 16 (61.5%) and in female 10 (38.5%). Malformations in 2 systems have occurred 9 times (50%); in which skeletal anomalies were 15 (39.5%). Single heart defects have occurred 12 times and in that ventricular septal defects were 7 times (27%). In male patients, skeletal anomalies (9), ventricular septal defects (4) and malformations in 2 systems (5) were prevalent. The association between the types of heart defects versus malformations showed that in male atrial septal defects were associated to 5 system anomalies and in female dextrocardia to 4 system anomalies. Conclusions: The study has reported the presence of 38 malformations in 18 patients with 26 heart defects and normal karyotype. Two system anomalies; defects in skeletal system and associations of malformations to ventricular septal defects were found to be frequent. Patients and families were counseled and were recommended for medical and surgical management of malformations and heart defects.
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This page is a summary of: Congenital Heart Defects and Non-Cardiac Malformations in Patients with Normal Karyotype, Indian Journal of Anatomy, January 2018, Red Flower Publication Private, Ltd.,
DOI: 10.21088/ija.2320.0022.7118.1.
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