Review article

https://doi.org/10.13112/PC.2013.9

The importance of epidemiological studies for genetic concepts: examples from pediatric cardiology

Ivan Malčić ; Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Klinički bolnički centar Zagreb, Medicinski fakultet Zagreb, Referentni centar za pedijatrijsku kardiologiju RH
Daniel Dilber ; Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Klinički bolnički centar Zagreb, Medicinski fakultet Zagreb, Referentni centar za pedijatrijsku kardiologiju RH
Nataša Rojnić Putarek ; Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Klinički bolnički centar Zagreb, Medicinski fakultet Zagreb, Referentni centar za pedijatrijsku kardiologiju RH

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Abstract

Examples from pediatric cardiology are used to illustrate the importance of epidemiological studies in understanding genetic basis
of heart defects. The introduction presents fundamental understandings in the genetics of congenital heart defects, followed by the
most signifi cant epidemiological studies in the last 30 years. Two major Croatian studies are compared with these investigations.
Considerable variability of results is a consequence of unequal criteria and sensitivity in diagnostics. Echocardiography is the fundamental
method for determining the criteria for inclusion and exclusion. The reader is introduced into the basic principles of Clark’s
etiopathogenic theory, which is based on genetic evidence that a small number of etiopathogenic factors cause a large number of
phenotypic expressions of heart defects. The validity of this theory is confi rmed by comparing the outcomes of epidemiologic analysis
of the Croatian and Bavarian study. In the fi rst stage, the relative relation between particular etiopathogenic groups is
compared, followed by comparison of frequency of simple (isolated) and complex defects within the same etiopathogenic group.
Both methods confi rm genetic basis as well as the importance of epidemiological research in clarifying the etiology of congenital
heart defects.

Keywords

genetics; heart defects, congenital; epidemiological; epidemiologic studies

Hrčak ID:

119832

URI

https://hrcak.srce.hr/119832

Publication date:

24.12.2013.

Article data in other languages: croatian

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