Watch ▶Acyanotic congenital heart defects → Pathology review
Watch ▶Approach to congenital heart diseases (acyanotic): Clinical sciences
| Defect | Description | Risk Factors | Clinical Presentation | Physical Exam Findings | Management |
|---|---|---|---|---|---|
| Ventricular Septal Defect (VSD) | 🔹 Most common congenital defect | ||||
| 🔹 Typically located in the membranous septum | |||||
| 🔹 Often idiopathic | 🔹 Down's syndrome | ||||
| 🔹 Fetal alcohol syndrome | 🔹 Small defects often asymptomatic | ||||
| 🔹 Larger defects can lead to tachypnea and failure to thrive within 1-2 months of birth | 🔹 Harsh holosystolic murmur at left sternal border | ||||
| 🔹 Severe defects cause diastolic rumble and sternal lift | 🔹 Monitor if small/asymptomatic | ||||
| 🔹 Surgical closure if large/symptomatic | |||||
| Atrial Septal Defect (ASD) | 🔹 Congenital defect of the atrial septum |
🔹 Secundum: 🔸 Arrested growth of septum secundum or excessive septum primum absorption 🔹 Primum: 🔸 Septum primum does not fuse with endocardial cushions 🔸 Associated with AV canal defects
🔹 Note ⇒ Patent foramen ovale is not considered an ASD | 🔹 Down's syndrome (primum) 🔹 Fetal alcohol syndrome | 🔹 Asymptomatic until middle age, then dyspnea, fatigue, exercise intolerance | 🔹 Systolic ejection murmur at pulmonary area 🔹 Fixed split S2 🔹 Diastolic flow rumble murmur at tricuspid area | 🔹 Children ⇒ 🔸 Monitor if small/asymptomatic 🔸 surgical closure if large/symptomatic
🔹 Adults ⇒ 🔸 Symptomatic/RV overload/Embolic stroke indicate surgical or percutaneous closure
🔹 Severe PAH ⇒ 🔸 No surgical closure | | Patent Ductus Arteriosus (PDA) | 🔹 Communicating vessel from aorta to pulmonary artery remains open 🔹 Closes after birth but if patent causes left-to-right shunt | 🔹 Prematurity 🔹 Rubella infection | 🔹 Ranges from asymptomatic to heart failure 🔹 Persistent large shunts can lead to shunt reversal and Eisenmenger syndrome | 🔹 Continuous "machinery murmur" 🔹 Wide pulse pressure/bounding pulse 🔹 Differential cyanosis | 🔹 Preterm infants ⇒ 🔸 Indomethacin/Ibuprofen 🔸 Surgery if ineffective 🔹 Term infants and older ⇒ 🔸 Surgical closure | | Coarctation of the Aorta | 🔹 Narrowing of the descending aorta 🔹 Typically distal to the left subclavian artery origin | 🔹 Turner syndrome 🔹 Acquired form with Takayasu arteritis | 🔹 Upper-lower body blood pressure differential 🔹 Brachial-femoral pulse delay 🔹 Upper body hypertension (headaches, epistaxis) | 🔹Continuous interscapular murmur 🔹 CXR ⇒ Rib notching 🔹 ECG ⇒ LVH | 🔹 Significant stenosis ⇒ 🔸 Surgical correction or balloon angioplasty
💡 Patients with suspected severe aortic coarctation should immediately receive prostaglandin E1 to maintain patency of the DA. | | Vascular Rings | 🔹 Congenital anomaly of the aortic arch causing trachea / esophagus compression | 🔹 Down's syndrome 🔹 DiGeorge syndrome 🔹 CHARGE | 🔹 Respiratory distress 🔹 Tachypnea 🔹 Cyanosis 🔹 Arching back and extending head relieves obstruction | 🔹 Respiratory distress signs 🔹 Cyanosis 🔹 Biphasic stridor | 🔹 Surgical correction |
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Left ventricular hypertrophy (LVH) signs
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What is the likely diagnosis in a young child that presents with failure to thrive and easy fatigability with a grade II holosystolic murmur best heard over the left sternal border with a diastolic rumble over the cardiac apex?