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Vascular Genetical Embryology

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PanVascular Medicine

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Abstract

Normal vertebrate embryologic development and viability depends upon the proper development and patterning of the vascular system and its intricate vascular networks due to its importance in delivering oxygen and nutrients to cells and removing metabolic waste from cells of the embryo. Due to the critical nature of the vascular system in the survival of the embryo, the blood vessels and the heart are the first organs to function during mammalian development due to their critical nature, but vessel networks continue to form and further remodel over time. The events leading to vascular development are complex and highly regulated, requiring complex interactions at all stages between genetic programs, molecular cues, and cellular responses, with genetics playing a significant role in the normal development of the embryo. When disturbed by mutations, pathologic disorders characterized by aberrant vessel formation or function occur. In this chapter, the genetic aspects of vascular development and disease will be described.

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Abbreviations

Angiogenesis:

The process of developing new blood vessels.

Choanal atresia:

Congenital anomaly in which a bony or membranous occlusion blocks the passageway between the nose and pharynx.

Coarctation of the aorta:

Congenital anomaly of the heart in which there is a narrowing of the aorta (usually transverse or descending aorta), resulting in abnormal/obstructed blood flow.

Haploinsufficiency:

Genetically, when an individual who is heterozygous for a certain gene mutation or hemizygous at a particular locus, often due to a deletion of the corresponding allele, is clinically affected because a single copy of the normal gene is incapable of providing sufficient protein production as to assure normal function.

Hemangioma:

Benign tumor formed by a collection of excess blood vessels and may be visible through the skin (“birthmark,” called a “strawberry mark”).

Hemizygous:

Having only one of a pair of genes.

Hereditary hemorrhagic telangiectasia (HHT):

Autosomal dominant disorder characterized by telangiectasias (permanent dilation of preexisting small blood vessels, creating focal red lesions) on the face, lips, tongue, fingers, and chest and arteriovenous malformations (AVMs, an abnormal tangle of arteries and veins in which the arteries feed directly into the veins without a normal intervening capillary bed.) within the lungs, liver, and brain are common.

Hypomorphic allele:

Mutation that reduces but does not eliminate the functionality of a gene.

Left ventricular outflow tract obstruction (LVOTO) disorders:

Cardiovascular disorders in which blood flowing from the left ventricle to the body via the aorta is blocked, usually anatomically. The most common LVOTO disorders include coarctation of the aorta, aortic valve stenosis, supravalvar aortic stenosis, and hypoplastic left heart syndrome.

Leukoencephalopathy:

Diseases of brain white matter. Multiple acquired and hereditary/genetic causes are known.

Lymphoscintigraphy:

A method used to evaluate the lymphatic system for disease using a radioactive substance and tracking scanner.

Pericytes:

Multipotent mesenchymal-like cells found in association with small blood vessel walls.

Vasculogenesis:

The formation and differentiation of the vascular system and the formation of new vessels by endothelial cell progenitors.

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Authors and Affiliations

  1. The Heart Institute, Pediatric Cardiology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA

    Jeffrey A. Towbin M.D. (Executive Co-Director, Professor and Chief)

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  1. Jeffrey A. Towbin M.D.
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Correspondence to Jeffrey A. Towbin M.D. .

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  1. Akademisches Lehrkrankenhaus MLU, Bitterfeld-Wolfen, Germany

    Peter Lanzer

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Towbin, J.A. (2014). Vascular Genetical Embryology. In: Lanzer, P. (eds) PanVascular Medicine. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-37393-0_1-1

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