Updated: 4/1/2018

Intro to Congenital Heart Disease

Review Topic
  • 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)
  • 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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