Snapshot A 2-month old child is brought to the pediatrician for poor feeding and tachypnea. The mom also reports that she seems to have difficulty gaining weight. On physical exam, she has a harsh pansystolic murmur with a thrill on the left lower sternal border. During feeding, the physician observes increased work of breathing and tachypnea. (Ventricular septal defect) Introduction Congenital heart disease diagnosis is typically made by the first few months of life an absence of murmur does not exclude congenital heart disease associated conditions chromosomal abnormalities, such as trisomies Marfan syndrome DiGeorge syndrome teratogens exposures, such as alcohol and rubella Right-to-left shunts clinical definition congenital heart disease resulting in shunting of blood from the right heart (unoxygenated blood) to the left heart (oxygenated blood) 5 T’s Truncus arteriosus (1 vessel) Transposition of the great vessels (2 vessels are switched) Tricuspid atresia (3 = tri) Tetralogy of Fallot (4 = tetra) Total anomalous pulmonary venous return (TAPVR = 5 letters) Ebstein anomaly presentation early cyanosis, resulting in “blue babies” right after birth treatment some require maintenance of patent ductus arteriosus (PDA) surgical treatment Left-to-right shunts clinical definition congenital heart disease resulting in shunting of blood from the left heart to the right heart disease include ventricular septal defect (VSD) atrial septal defect (ASD) patent ductus arteriosus (PDA) coarctation of the aorta presentation babies are acyanotic at birth, as oxygenated blood remains in circulation cyanosis may occur later on in life treatment most lesions remain asymptomatic larger defects that cause cyanosis may require surgical correction complications Eisenmenger syndrome results from uncorrected left-to-right shunting, causing pulmonary arterial hypertension and right ventricular hypertrophy