Updated: 4/1/2018

Intro to Congenital Heart Disease

Review Topic
  • 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
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