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ventricular septal defect

Etiology: - congenital - myocardial infarction involving the interventricular septum - 50% of VSD result from anterior wall MI [2] Pathology: - occurs most commonly in membranous or muscular septum - VSD size determines the degree of left to right shunt - may cause pulmonary hypertension Genetics: - type 1 associated with defects in GATA4 Clinical manifestations: 1) small defects (most common in adults) a) loud holosystolic murmur along left lower sternal border - murmur may obliterate S2 - murmur increases with handgrip - murmur decreases with amyl nitrite [2] - murmur does not radiate - murmur intensity & duration decrease as pulmonary hypertension develops (see Eisenmenger syndrome) [2] b) thrill is often felt in the same location c) may be little blood flow through the defect d) patient may be asymptomatic 2) large defects - mitral diastolic rumble at apex, especially when shunt is more than 2.5:1 Special laboratory: - electrocardiogram: - small VSD: normal - large VSD: - right ventricular hypertrophy alone or with left ventricular hypertrophy - pulmonary artery catheter - large v waves in wedge pressure tracing - step-up in O2 saturation from right atrium to right ventricle Radiology: - chest X-ray (large VSD) - right atrial & right ventricular enlargement - increased pulmonary vascular markings - with pulmonary hypertension - prominent central pulmonary arteries - reduced peripheral pulmonary vascularity Complications: - endocarditis (small VSD) - right & left ventricular hypertrophy (large VSD) - right & left atrial enlargement (large VSD) - pulmonary hytertension (large VSD) - Eisenmenger's syndrome [2] Management: 1) indications for surgical ventricular septal closure in adults a) progressive aortic insufficiency b) progressive tricuspid regurgitation c) progressive left ventricular volume overload - pulmonary to systemic blood flow ratio > 1.5 [2] (formerly 2.0) d) recurrent endocarditis [2] e) large ventricular septal defects with cardiogenic shock due to myocardial infarction [2] - PCI for STEMI no longer indicated after VSD diagnosis - CABG during cardiac surgery for VSD offers only hope [2] 2) large VSD with left to right shunt & pulmonary hypertension (Eisenmenger's syndrome) should not be surgically closed - clinical deterioration will result - heart transplantation if surgery indicated 3) patients with small VSD without left heart enlargement, pulmonary hypertension, recurrent endocarditis, or cardiac valvular insufficiency may be followed clinically [2]

Interactions

disease interactions

Related

interventricular septum

Specific

ventricular septal rupture

General

cardiac septal defect

Database Correlations

OMIM 614429

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 46
  2. Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 2009, 2012, 2015, 2018, 2022.
  3. Poulsen SH, Praestholm M, Munk K et al Ventricular septal rupture complicating acute myocardial infarction: clinical characteristics and contemporary outcome. Ann Thorac Surg. 2008 May;85(5):1591-6 PMID: 18442545
  4. Gabriel HM, Heger M, Innerhofer P et al Long-term outcome of patients with ventricular septal defect considered not to require surgical closure during childhood. J Am Coll Cardiol. 2002 Mar 20;39(6):1066-71 PMID: 11897452
  5. Penny DJ, Vick GW 3rd. Ventricular septal defect Lancet. 2011 Mar 26;377(9771):1103-12. PMID: 21349577