Current Pediatric Research

Background: Current trends in chromosomal analysis and genetic assay for cardiac anomalies have led to arising need for genetic cardiologists and counsellors.

Objectives: We present series of four cases that showed a very strong demand and need for genetic testing and counselling.

Results/Case Presentation: We report four cases of congenital familial disease, each pair consists of siblings with both congenital and acquired heart diseases. The first pair arise from same parents, both males, 8 years and 5 years respectively with both presenting with anomaly from cono-truncal origin. The elder brother has pulmonary stenosis and the younger had truncus arteriosus. The former had surgery and was doing well but the former awaits surgery. The second pair arise from same biological parent. Both are females, 8 years and 6 years old respectively, both had cardiomyopathy, they are now awaiting cardiac transplant. Regrettably, none of the familial cases had any genetic assay or counselling because of lack of funds and facilities.

Conclusion: From these cases, it is very expedient to include genetic counselling and chromosomal analysis as part of our daily practice in our locale. Indications such as the presence of a syndromic phenotype, growth delays and a family history of cardiac lesion could be a tell-tale sign for genetic analysis.

Author(s): Chinawa JM, Ujunwa FA, Aronu AE, Chinawa AT, Maduka NC, Obidike EO

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