Abstract
Cardiovascular malformations are the most common type of birth defect. Currently, only a fraction of cases have associated causative factors and little is known about the aetiology of the rest. Despite this, our understanding of normal and abnormal heart development continues to grow, a number of recent discoveries even challenging long-held concepts. In this review, we highlight some of this new knowledge, emphasising aspects that may be of interest to the clinician.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Chromosome Aberrations*
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Chromosomes, Human, Pair 22 / genetics
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DiGeorge Syndrome / genetics
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Heart Defects, Congenital / genetics*
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Heart Septal Defects, Atrial / genetics
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Homeobox Protein Nkx-2.5
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Homeodomain Proteins / genetics
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Humans
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Mutation
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Syndrome
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T-Box Domain Proteins / genetics
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Transcription Factors / genetics
Substances
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Homeobox Protein Nkx-2.5
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Homeodomain Proteins
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NKX2-5 protein, human
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T-Box Domain Proteins
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T-box transcription factor 5
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Transcription Factors