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Pregledni rad
https://doi.org/10.13112/Pc.2013.5

Genetics in the understanding of the hypoplastic left heart syndrome

Ivan Malčić ; Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Klinički bolnički centar Zagreb, Medicinski fakultet Zagreb, Referentni centar za pedijatrijsku kardiologiju RH
Andrea Dasović Buljević ; Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Klinički bolnički centar Zagreb, Medicinski fakultet Zagreb, Referentni centar za pedijatrijsku kardiologiju RH
Josipa Grgat ; Klinika za pedijatriju, Zavod za pedijatrijsku kardiologiju, Klinički bolnički centar Zagreb, Medicinski fakultet Zagreb, Referentni centar za pedijatrijsku kardiologiju RH

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Sažetak
Research methods of the complex genetic heterogeneity of the hypoplastic left heart syndrome (HLHS) are presented using as the
example. The common genetic basis of the left ventricular outfl ow tract (LVOT) defects, where HLHS is accompanied by bicuspid
aortic valve (BAV), aortic valve stenosis (AVS), coarctation of the aorta (Coa), dilatation of the ascending aorta (AOD), and the Shone
syndrome, is also investigated. The literature presents evidence for mutual connection of these defects with a common etiopathogenic
source through epidemiological knowledge, analysis of the occurrence of the mentioned defects within families or smaller
groups, and through family trees. Current methods of evaluating polygenic infl uences according to logarithm of odds (LOD) marker
with a level of signifi cance marked as suspect or signifi cant are presented. Hypoplastic left heart syndrome is linked with chromosomal
regions 10q22 and 6q23 with maximum LOD 3.1 and 3.2 (p<0.001). In HLHS and BAV groups of patients, locus 14q23 revealed
an extremely high degree of linkage (LOD 4.1) of these two defects. The latest studies by Hinton et al. (2008, 2009), MacBridge (2009,
2010), and Garge et al. (2011) are presented by describing the methods, through tables and multilayer LOD markers, through images
(family tree, NOTCH1 missense mutations), and corresponding discussion. Finally, the author presents his own experiences from BAV
study and the connection of this lesion with other LVOT defects in 100 patients in a retrospective study ten-years.

Ključne riječi
genetic heterogeneity; hypoplastic left heart syndrome; bicuspid aortic valve; literature

Hrčak ID: 119820

URI
https://hrcak.srce.hr/119820

[hrvatski]

Posjeta: 585 *