Key result
The cardiopharyngeal field provides an evolutionary and developmental framework to understand complex human syndromes presenting with combined craniofacial and cardiac anomalies.
Understanding the evolutionary and developmental biology of the cardiopharyngeal field helps explain why many human syndromes present with both craniofacial and cardiac anomalies.
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May aid recognition of combined craniofacial-cardiac syndromes; leaves open prospective validation before clinical adoption.
Human syndromes are often complex and not easily explained by a single gene mutation. Syndromes have a mix of symptoms that result from a failure in complex developmental networks. An in-depth analysis of the development of the head and heart tissues has recently shown that the musculature, which constitute these distinct systems arise from a common pool of mesoderm progenitor cells within the cardiopharyngeal field (CPF). This CPF was shown to be present early in the evolutionary development of vertebrate embryos. Furthermore, analysis of the development of tunicates, chicken and mice lead to a better understanding of the evolution and development of head and heart muscles. This in turn has the potential to increase our understanding of syndromes in which mainly cranial and cardiac structures (in particular muscles) are involved. The application of the basic science of evolutionary biology to improve our understanding of health and disease is the basis of evolutionary medicine. This approach has already proven to be helpful in understanding the evolution of various medical phenomena, as for example the evolution of autoimmune diseases. At this moment, DiGeorge Syndrome is the only condition under investigation regarding the contributions of the CPF.
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Ziermann JM (2017) conducted a review in Cardiopharyngeal syndromes. The cardiopharyngeal field provides an evolutionary and developmental framework to understand complex human syndromes presenting with combined craniofacial and cardiac anomalies.
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