Congenital Heart Defects

Congenital heart malformations account for a large percentage (15-20% or 5-8 of every 1000 live births) of all congenital defects observed in live-born infants. Such defects result from a disturbance in normal development at any step of heart formation and can be caused by a variety of mechanisms such as genetics, substance abuse, illness of the mother, exposure or susceptibility to teratogens during critical periods of development and unknown etiologies. Valve disease may manifest as stenosis, an obstruction to outflow, or regurgitation, a defective closure resulting in backward flow. Valve disease tends to progress. Ultimately, ventricular function can be compromised. Aortic valve stenosis is the most common form of valve disease and classically manifests as angina, syncope and heart failure. The diagnosis can be made clinically and confirmed by echocardiography, which quantifies the severity, and, over time, the progression of disease. Below are common CHDs the symptoms from resulting abnormality,  as well as the pathophysiology.

Table created in conjunction with Courtney Edwards (M2 Vanderbilt MSTP)

Video of CHD defects.

Resources: Vanderbilt Medical School Lectures on Heart Development and CHD Pathology November 2016, Lecturer(s): Lillian Nanney, Ph.D and Art Dalley, Ph.D

Pictures Obtained from: https://embryology.med.unsw.edu.au/embryology/index.php/Cardiovascular_System_-_Heart_Development