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Genetic factors in congenital heart malformation
Author(s) -
Andelfinger G
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01009.x
Subject(s) - heart disease , disease , heart development , medicine , bioinformatics , biology , genetics , pathology , gene , embryonic stem cell
Congenital heart disease is the commonest malformation in humans and contributes greatly to the burden of disease in infancy. Increasingly, developmental origins are also implicated in heart disease in adults. Significant advances have been made over the past decade in elucidating morphogenetic events of heart formation and their underlying molecular cascades, mostly in animal models. Clinical studies are increasingly successful in quantifying and unraveling genetic factors. This review focuses on recent progress made in understanding the genetic underpinnings of normal and abnormal heart formation and highlights the importance of understanding these mechanisms to improve patient management.