Congenital heart defects

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CHD Basics - Blue vs. Pink Babies

  • Acyanotic (L→R Shunt): Oxygenated blood shunts from the left to the right side of the heart. Leads to ↑ pulmonary blood flow. No initial cyanosis.
    • Examples: VSD, ASD, PDA.
  • Cyanotic (R→L Shunt): Deoxygenated blood shunts from the right to the left, bypassing the lungs and entering systemic circulation.
    • Examples: Tetralogy of Fallot (ToF), TGA.
    • 📌 Mnemonic (5 T's): Tetralogy of Fallot, Transposition, Truncus Arteriosus, Tricuspid Atresia, TAPVR.

⭐ Ventricular Septal Defect (VSD) is the most common congenital heart defect diagnosed in children.

Acyanotic Defects - Leaky Heart Havoc

  • Pathophysiology: Left-to-right shunts (L→R) leading to ↑ pulmonary blood flow & pressure. No initial cyanosis.
  • Ventricular Septal Defect (VSD):
    • Most common CHD overall.
    • Harsh holosystolic murmur at lower left sternal border.
    • CXR: Cardiomegaly, ↑ pulmonary vascular markings.
  • Atrial Septal Defect (ASD):
    • Wide, fixed splitting of S2.
    • CXR: Cardiomegaly with a prominent pulmonary artery.
  • Patent Ductus Arteriosus (PDA):
    • Continuous “machinery” murmur at the left infraclavicular area.
    • Associated with congenital rubella.
    • Treatment: Indomethacin (closure) or Prostaglandins (to keep it patent).

Eisenmenger Syndrome: A late complication where chronic pulmonary hypertension reverses the shunt (R→L), causing cyanosis, clubbing, and polycythemia.

Heart with VSD and left-to-right shunt

Cyanotic Defects - The Blue Crew

  • Caused by right-to-left shunts, leading to early cyanosis (“blue babies”).
  • 📌 Mnemonic: 1-2-3-4-5
    • 1 Trunk: Truncus Arteriosus
    • 2 Great Vessels: Transposition of the Great Arteries (TGA)
    • 3 Leaflets: Tricuspid Atresia
    • 4 Defects: Tetralogy of Fallot (TOF)
    • 5 Words: Total Anomalous Pulmonary Venous Return (TAPVR)
  • Key X-Ray Findings:
    • TOF: "Boot-shaped" heart.
    • TGA: "Egg-on-a-string" appearance.
    • TAPVR (supracardiac): "Snowman" or "Figure-of-8" sign.

Tetralogy of Fallot is the most common cyanotic CHD overall. "Tet spells" (hypercyanotic episodes) are often relieved by squatting, which increases systemic vascular resistance.

Key Syndromes & Signs - X-Ray Vision

  • Syndromic Associations:

    • Down Syndrome (Trisomy 21): Endocardial cushion defect (AVSD) is most common.
    • Turner Syndrome (XO): Bicuspid aortic valve, Coarctation of Aorta.
    • DiGeorge Syndrome (22q11.2): Conotruncal defects (Truncus arteriosus, TOF).
    • Noonan Syndrome: Valvular Pulmonary Stenosis.
    • Marfan Syndrome: Aortic root dilatation.
  • Classic X-Ray Findings:

    • Tetralogy of Fallot (TOF): "Boot-shaped" heart (Coeur en sabot). Tetralogy of Fallot: Boot-Shaped Heart X-ray Findings
    • TGA: "Egg-on-a-string" sign. Egg-on-a-string sign in TGA chest X-ray
    • TAPVC (Supracardiac): "Snowman" or "Figure of 8" sign. Snowman sign on chest X-ray in supracardiac TAPVC
    • Ebstein's Anomaly: "Box-shaped" heart (massive cardiomegaly).

⭐ Over 50% of children with Down Syndrome have a congenital heart defect, with Atrioventricular Septal Defect (AVSD) being the most characteristic lesion.

  • VSD is the most common CHD overall; TOF is the most common cyanotic CHD.
  • Classic X-ray findings: "boot-shaped heart" for Tetralogy of Fallot and "egg-on-string" sign for TGA.
  • A continuous machinery murmur is pathognomonic for PDA.
  • Eisenmenger syndrome is the irreversible reversal of a left-to-right shunt due to severe pulmonary hypertension.
  • Down syndrome is strongly associated with AV septal defects (endocardial cushion defects).
  • Maternal rubella infection is a major risk factor for PDA and pulmonary stenosis.

Practice Questions: Congenital heart defects

Test your understanding with these related questions

A 9-year-old boy is brought to the office due to exertional dyspnea and fatigability. He tires easily when walking or playing. His parents say that he was diagnosed with a congenital heart disease during his infancy, but they refused any treatment. They do not remember much about his diagnosis. The patient also had occasional respiratory infections throughout childhood that did not require hospitalization. He takes no medications. The patient has no family history of heart disease. His vital signs iclude: heart rate 98/min, respiratory rate 16/min, temperature 37.2°C (98.9°F), and blood pressure of 110/80 mm Hg. Physical examination shows toe cyanosis and clubbing but no finger abnormalities. Cardiac auscultation reveals a continuous machine-like murmur. All extremity pulses are full and equal. Which of the following is the most likely diagnosis?

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Flashcards: Congenital heart defects

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_____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

TAP TO REVEAL ANSWER

_____ is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle

Ebstein anomaly

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