Congenital heart disease pathophysiology

Congenital heart disease Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Priyamvada Singh, MBBS [2]; Assistant Edtior-In-Chief: Kristin Feeney, B.S. [3]

Overview

Congenital heart disease directly influences the normal mechanical, physical and biomechanical functioning of the heart. There are many forms of congenital heart disease and subsequently, each condition holds its own unique pathophysiology.

Pathophysiology

During fetal development, a congenital heart disease will directly influence the formation of the anatomical structure of the heart. This in turn influences the normal mechanical, physical and biomechanical functioning of the heart. Refer to the following sections for the unique pathophysiology of each specific condition.

• Aortic stenosis
• Atrial septal defect
• Atrioventricular canal
• Coarctation of aorta
• Patent ductus arteriosus
• Tetralogy of fallot
• Total anomalous pulmonary venous connection
• Tricuspid atresia
• Truncus arteriosus
• Transposition of the great arteries
• Ventricular septal defect

Genetics

While many genetic syndromes are associated with a congenital heart defect, the obverse is not true and many cases of congenital heart disease are not associated with a genetic defect. Genetic syndromes that are associated with congenital heart defects include , , and . The genetics of congenital heart disease may vary by defect. Other genetic syndromes associated with congenital heart disease include the following:

• Alagille syndrome
• DiGeorge syndrome (22q11 deletion syndrome)
• Down's Syndrome
• Ellis-van Creveld Syndrome
• Holt-Oram syndrome
• Marfan's Syndrome (Aortic aneurysm)
• Noonan Syndrome (Pulmonic stenosis
• Trisomy 13
• Turner's Syndrome (coarctation of the aorta)