| Snapshot |
| A 15-year-old boy presents to his cardiologist’s office for weeks of dyspnea on exertion, syncopal episodes, and hemoptysis. He has a past medical history significant for a rather large ventricular septal defect. Concerned for Eisenmenger syndrome, his cardiologist sends him for an echocardiogram and preparations are made for surgical intervention. |
| Introduction |
| Clinical definitiona congenital defect resulting in an opening in the interventricular septum of the heartEpidemiologydemographicsmost common congenital cardiac defectpresent at birthrisk factorsfamily historyPathogenesisVSD causes a left-to-right shunting in the heart, causing increased pulmonary blood flow and alterations in pulmonary vasculature over time, with severe defects, this eventually results in pulmonary hypertension and eventual Eisenmenger syndrome the left-to-right shunt will lead to increased oxygen tension in the right ventricle Associated conditionsDown syndromeDiGeorge syndrome Turner syndromePrognosismost remain asymptomatic or self-resolvelarger defects can lead to left heart overload and heart failure |
| Presentation |
| Symptomsneonates may be asymptomatic at birth but may develop symptoms over weeksshortness of breathexcessive fatiguedifficulty breathing or sweating during feedingfailure to thrivepatients may also remain asymptomaticPhysical exam high-pitched and harsh holosystolic murmur best heard at the lower left sternal borderdecreased during Valsalva and amyl nitrate administration increased during handgrip, squatting, and leg raisesmall defects may be louder due to higher flow across the smaller opening |
| Imaging |
| Radiographyindicationoften an initial test to rule out other pathologiesviewschestfindingscardiomegalyincreased vascular markingsEchocardiography indicationsdiagnostic testmost specific testfindings VSD |
| Studies |
| Making the diagnosisbased on clinical presentation and echo |
| Differential |
| Atrial septal defectdistinguishing factorif symptomatic, mumur will be a wide and fixed split S2Patent ductus arteriosus distinguishing factormurmur typically is a continuous machine-like murmur and disappears after 1-2 days after birth |
| Treatment |
| Management approachprophylaxis for infective endocarditis is not necessarymild defects can be left untreatedmedical management is aimed at complications of VSDMedicalpalivizumabindicationin infants with symptomatic VSDfor passive immunization against respiratory syncytial virus (RSV)diureticsindicationif patients have heart failurepulmonary vasodilatorsindicationif patients present with Eisenmenger syndromeOperativesurgical closure of VSDindicationssymptomatic patients with large defects or heart failurepatients with pulmonary hypertensionpatients with significant aortic insufficiency |
| Complications |
| Increased risk for subacute infective endocarditis Heart failure Eisenmenger syndrome |
