congenital disorder

A large group of disorders arising during development that cause abnormality of the human body. Most are due to genetic factors such as inherited or spontaneous mutations, whereas others are caused by environmental influences during pregnancy such as exposure to harmful chemicals. The most severe and lethal disorders arise during the first 28 days of development and include gross brain anomalies and heart defects. The mildest malformations occur in the late stages of development and are often the result of dominant inheritance, whereas complex congenital syndromes are often the result of recessive inheritance. Seealso birth defect; Down syndrome.

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Deformity of the heart. Examples include septal defect (opening in the septum between the sides of the heart), atresia (absence) or stenosis (narrowing) of one or more valves, tetralogy of Fallot (with four components: ventricular septal defect, pulmonary valve stenosis, right ventricular enlargement, and positioning of the aorta so that it receives blood from both ventricles), and transposition of the great vessels (so the pulmonary and systemic circulations each receive blood from the wrong side of the heart). Such defects can prevent enough oxygen from reaching the tissues, so the skin has a bluish cast. Many are fatal if not corrected surgically soon after birth—or, rarely, before birth, if detected prenatally. Abnormalities of the large vessels are usually less serious (see aorta, coarctation of; ductus arteriosus).

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