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Chapter 9.1 - Structural heart disease


from Section 2 - Fetal disease

Published online by Cambridge University Press:  05 February 2013

Mark D. Kilby
Department of Fetal Medicine, University of Birmingham
Anthony Johnson
Baylor College of Medicine, Texas
Dick Oepkes
Department of Obstetrics, Leiden University Medical Center
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The prenatal detection of structural cardiac malformations has greatly benefited from the advances in echo Doppler technology and the in depth-training of specialists in this area. This opens up new possibilities, now and in the future, for developing in-utero therapy. It also necessitates a better knowledge of the underlying mechanisms and the developmental timing that lead to structural congenital heart disease (CHD), based on a marked progress involving genetic and epigenetic causes. Gene mutations are discovered in the fetus and parents and pathways can be unraveled using mouse transgene technology. Epigenetic causes are also receiving attention, but have thus far been underestimated as approximately 85% of CHD is determined to have a multifactorial background that combines a genetic susceptibility with epigenetic influences. Studies in animal models including chicken, quail, zebrafish, and even more primitive Chordates contribute relevant data. In essence cardiac development shows basic similarities of the major processes involved in between species, therefore, mechanisms unraveled in animal models can be reliably used in understanding normal human cardiac development and CHD [1].

This chapter provides an update on recent advances in heart development (Figure 9.1.1) in which it is important to distinguish a first heart field (FHF) and a second heart field (SHF). As will be explained the contribution of the SHF is very important for most of the structural CHD which we can detect in the fetus and neonate. After a general introduction into embryology the most common heart malformations will be grouped in a developmental context and a small separate paragraph on each specific malformation will be provided. As heart development is a very complicated process with many interacting mechanisms, the grouping of the malformations in a developmental concept should be seen as an approximation in which FHF and SHF components interact to enable, for instance, septation and valve formation (Table 9.1.1).

Fetal Therapy
Scientific Basis and Critical Appraisal of Clinical Benefits
, pp. 100 - 112
Publisher: Cambridge University Press
Print publication year: 2012

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