Watch ▶Approach to congenital heart diseases (cyanotic): Clinical sciences
| Defect | Description | Clinical Presentation | Diagnostic Findings | Management |
|---|---|---|---|---|
| Tetralogy of Fallot | 🔹 RVH | |||
| 🔹 VSD | ||||
| 🔹 Overriding aorta | ||||
| 🔹 Obstructed RV outflow | 🔹 Cyanosis and distress within weeks of birth | |||
| 🔹 "Tet Spell" with agitation | ||||
| 🔹 Squatting relieves symptoms | ||||
| 🔹 Harsh systolic ejection murmur at the left upper sternal border | ||||
| 🔹 Single S2 | 🔹 TTE | |||
| 🔹 CXR ⇒ Boot-shaped heart | 🔹 Severe RVOTO → PGE1 infusion until surgery | |||
| 🔹 Tet spell → Knee-chest position, O2, morphine |
🔹 Surgical closure (3-6 months)
💡 Without surgery, ∼ 50% of patients do not live past the first three years of life | | Truncus Arteriosus | 🔹 Common truncal artery that gives rise to aorta and pulmonary arteries 🔹 Often have VSD 🔹 Associated with DiGeorge syndrome | 🔹 Cyanosis 🔹 Heart failure 🔹 Respiratory distress within first weeks of life 🔹 Single S2 | 🔹 TTE | 🔹 Medical stabilization 🔹 Surgical repair | | D-Transposition of the Great Vessels | 🔹 Aorta arises from RV, pulmonary artery from LV 🔹 Associated with pre-existing maternal diabetes 💡 | 🔹 Cyanosis 🔹 Respiratory distress within hours of birth 🔹 Single S2 | 🔹 TTE 🔹 CXR ⇒ "Eggs on a string" sign 🔹 Narrowed mediastinum | 🔹 Alprostadil (PGE1) to maintain PDA 🔹 Balloon atrial septostomy 🔹 Surgical correction (arterial switch) | | Tricuspid Atresia | 🔹 Absence of tricuspid valve 🔹 No direct connection between RA/RV 🔹 All have ASD, RV hypoplasia, most have VSD, many have PDA | 🔹 Cyanosis 🔹 Holosystolic murmur at the lower left sternal border 🔹 Single S2 | 🔹 TTE 🔹 CXR ⇒ Minimal pulmonary markings 🔹 ECG ⇒ Left axis deviation | 🔹 Alprostadil (PGE1) to maintain PDA 🔹 Surgical correction | | Total Anomalous Pulmonary Venous Return | 🔹 A congenital heart defect in which the pulmonary veins merge to form a connecting vein that drains into the systemic venous circulation (e.g., the vena cava) rather than the left atrium. 🔹 Without return of blood to the left heart, there is no systemic circulation. | 🔹 Cyanosis 🔹 Heart failure 🔹 Respiratory distress | 🔹 TTE 🔹 CXR ⇒ "Snowman" sign (Figure of 8) = (enlarged supracardiac veins & SVC) | 🔹 Surgical repair |
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What is the likely diagnosis in a newborn that becomes cyanotic with left axis deviation on ECG and decreased pulmonary markings on CXR?
| Age Group | Diagnosis and Presentation |
|---|---|
| Infants | 🔹 Cyanosis that begins in the first hours to days of life is seen with right-to-left shunt congenital heart diseases, including |
| 🔸Transposition of great arteries | |
| 🔸Persistent truncus arteriosus | |
| 🔸Tetralogy of Fallot | |
| 🔸Total anomalous pulmonary venous return | |
| 🔸Ebstein anomaly | |
| 🔸Hypoplastic left heart syndrome | |
| 🔸Tricuspid atresia. | |
| 🔹 Congenital heart disease can have variable presentations and can become more evident once the PDA begins to close, as the PDA allows for left-to-right circulation and can partially compensate for the defect. | |
| Toddlers | 🔹 If Tetralogy of Fallot (ToF) does not present as cyanosis in infancy, it may present later in toddlers. |
| 🔹 It may be described as a toddler who cannot keep up with his classmates at recess and has to squat when catching their breath. | |
| 🔹 Hypercyanotic “Tet” spells may be noted. | |
| Young Adults | 🔹 Difficult-to-control hypertension in young adults should raise suspicion for coarctation of the aorta. |
| 🔹 They may also have claudication on exertion, and lower extremity cyanosis secondary to an associated PDA. | |
| Any Age | 🔹 Right ventricular failure symptoms may indicate untreated congenital heart disease that has progressed to Eisenmenger syndrome (chronic left-to-right shunt leading to pulmonary hypertension and cyanosis when shunt reverses). |
| 🔹 Individuals with surgical corrections of congenital heart disease who have been lost to follow-up may present with symptoms of right- and left-sided heart failure later in life. |