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Congenital heart disease
Congenital heart disease falls into two groups: acyanotic lesions with a left-to-right shunt (VSD, ASD, PDA) and cyanotic lesions (TOF, TGA); the clues to the diagnosis are the age at presentation, the murmur, the X-ray and the associated syndrome.
Why it matters in the exam
Questions present an infant with a murmur, heart failure or cyanosis and ask for the lesion. Classic clues: a holosystolic murmur heard at the left lower sternal edge (VSD), a fixed split S2 (ASD), a continuous "machinery" murmur (PDA), a blood-pressure difference between arms and legs (coarctation), a boot-shaped heart (TOF) and an "egg on a string" (TGA). The immediate treatment of a cyanotic newborn is also tested: prostaglandin E1 to keep the duct open.
Syndrome links are asked in almost every exam: Down syndrome with AVSD; Turner with coarctation and a bicuspid aortic valve; DiGeorge with truncus and TOF; Williams with supravalvular aortic stenosis; maternal diabetes with TGA; lithium with Ebstein anomaly. Pulse-oximetry screening of every newborn after 24 hours aims to find critical lesions before the duct closes.
Key points
- Acyanotic: VSD (the commonest), ASD, PDA, coarctation.
- Cyanotic: TOF (the commonest beyond the newborn period), TGA (the commonest in the newborn).
- A cyanotic or shocked newborn with a duct-dependent lesion: prostaglandin E1.
- Pulse-oximetry screening of every newborn after 24 hours to find critical lesions.
- Syndromes: Down with AVSD, Turner with coarctation, DiGeorge with truncus.
Summary table
| Lesion | Key finding | Exam note | Treatment |
|---|---|---|---|
| VSD | Holosystolic murmur heard at the left lower sternal edge | The commonest lesion; a large VSD causes heart failure at 4–8 weeks | Small ones close spontaneously; large ones — surgical repair |
| ASD (secundum) | Fixed split S2, ejection systolic murmur at the left upper sternal edge | Usually asymptomatic in childhood | Catheter closure when the right ventricle is dilated |
| PDA | Continuous "machinery" murmur, bounding pulses | Common in preterm babies; linked to congenital rubella | Ibuprofen, indomethacin or paracetamol in the preterm baby; catheter closure |
| Coarctation of the aorta | High blood pressure in the arms, weak leg pulses | Turner; in the newborn — shock when the duct closes | Prostaglandin E1 in the newborn; repair |
| TOF | Cyanosis, boot-shaped heart, "tet spells" | The commonest cyanotic lesion beyond the newborn period | In a spell: squatting or knees to chest, oxygen, morphine, fluids; surgical repair |
| TGA | Severe cyanosis in the first days, "egg on a string" | The commonest cyanotic lesion in the newborn; maternal diabetes | Prostaglandin E1, balloon septostomy, arterial switch operation |
Free exam questions
בן 5 שנים נבדק בשל הפרעה קלה בשגשוג. בבדיקתו :לציין דופק 70 לדקה סדיר , אוושה לבבית סיסטולית בעוצמה 2/6 בגבול הסטרנום השמאלי העליון עם פיצול רחב וקבוע ( של קול שני 2 S ) ו בלט פרקורדיאלי קל משמאל . ה דופק ה .פמורלי נמוש היטב ם מה האבחנה והטיפול המתאימים ביותר לממצאים אלו ? (the question as examined, in Hebrew)
- א. אוושה תמימה, פונקציונלית, לא דרוש טיפול
- ב. פגם קטן במחיצה בין החדרים שלא מצריך סגירה
- ג. פגם במחיצה הבין עלייתית המצריך סגירה
- ד. היצרות בינונית של המסתם הריאתי שמצריכה הרחבה
ילוד נכשל ב pulse oximetry test איזה מום עלול י לה מצא בבדיקת אקו של הילוד? (the question as examined, in Hebrew)
- א. Tricuspid atresia
- ב. Ventricular septal defect
- ג. Atrial septal defect
- ד. Congenital mitral insufficiency
As part of a routine examination, in cardiac auscultation of a 4-month-old boy, a gentle 2/6 systolic murmur was heard, and widely split and fixed S2. Normal oxygen saturation. A chest X-ray demonstrated enlargement of the right atrium and ventricle. What is the likely etiology?
- A. Ostium secundum defect
- B. Transposition of great arteries
- C. Total anomalous pulmonary venous return
- D. Tetralogy of Fallot
In the full version for subscribers
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Sources
- Nelson Textbook of Pediatrics, 22nd edition (2024) — Acyanotic Congenital Heart Disease: Left-to-Right Shunt Lesions; Cyanotic Congenital Heart Disease
- AAP/AHA updated strategies for pulse oximetry screening for critical congenital heart disease, 2020 — Screening algorithm
- AHA Scientific Statement: Prevention of Viridans Group Streptococcal Infective Endocarditis, 2021 — Cardiac conditions that warrant prophylaxis
Sources are given for further reading; the text is written afresh and not copied from them.
Reviewed by the Examqo AI Professor · 2026-11-02. The text may contain errors; when in doubt, check the source.