Outcome, Hemodynamic and Genetic Assessment in Patients with Functionally Univentricular Hearts after the Fontan Operation at Young Age

The incidence of CHD is about 0.8%, meaning 12.5 cases per 1000 life births. Errors in the morphogenesis of a normal four-chambered heart result in congenital heart disease (CHD), the most common form of birth defects. Heart formation is a complex morphogenetic process that requires correct function of 1) various embryological developmental regions (including the heart fields and the neural crest); 2) complex looping patterns resulting from selective growth and cell death, and 3) numerous regulatory and structural genes. Disruption of these processes cumulates in various forms of CHD. In the minority of cases of CHD, there is a chromosomal or monogenetic defect. The majority of cases of CHD, however, are of multifactorial origin, meaning a complex interplay of genetic and environmental factors (i.e. a polygenic model). Up until now, several candidate genes have been identified in patients with defects of cardiac septation, conotruncal anomalies and/or underdevelopment of one of the ventricles. In patients with a so called functionally univentricular heart, all these defects can be combined in one heart. Data on the embryological development of univentricular lesions are scarce, as are candidate genes. Inheritance seems to be comparable to other types of congenital heart defect, with 2-5% of siblings affected. Hypoplastic left heart syndrome is an exception with an overrepresentation of familial congenital heart disease, with 19-33% of siblings affected.

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