Congenital Heart Diseases in association with genetic abnormalities: How are the surgical results?

Background: The aim of the study was to evaluate the incidence of genetic abnormalities in operated congenital heart disease patients and the influence of underlying genetic issues on morbidity and mortality of these patients. METHODS: The medical records of the operated patients at our cardiac center were evaluated retrospectively.Patients were evaluated as syndromic or nonsyndromic(without any syndrome) according to their genetic test results or phenotypes.The surgical results were evaluted by scoring systems.The primary end points were accepted as mortality(in the first postoperative30 days) and morbidity (>7days of ICU monitorization). RESULTS: 2330 patients operated between 01.01.2013 and 01.01.2018 were included in the study. The median age and body weight were 6.5 months(range: 1 day-18 years) and 7.2 kg(1-80 kg) respectively.55% were males(n=1285), 20% were <1 month old,58% were <1 year of age. A defined genetic syndrome was present in 15%(n=344)(Down syndrome(n=207),DiGeorge syndrome(n=38) and another genetic syndrome(n=99).Overall mortality was 26.2%(n=601).Mortality in sugroups were 6.6% in nonsyndromics,7.2% in Down syndrome, 13.1% in Di George Syndrome respectively.Mortality was found significantly high in only Di George syndrome(p=0.04). Overall morbidity was 26.2%(n=601).Subgroup morbidities was 25.6% in nonsyndromic patients,26.1% in Down syndrome,42.1% in DiGeorge Syndrome,33.3% in other groups.Morbidity was significantly high in groups with Di George Syndrome and other syndromes groups(p=0.02). DISCUSSION AND CONCLUSION: The presence of a syndrome causes an increase in morbidity due to prolonged ICU duration but does not effect the mortality rates.The advanced ICU care has a great effect on that.The proper management of patients with congenital heart disease and associated genetic syndrome will help to improve the ultimate result