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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
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 46
- Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17, 18, 19.
American College of Physicians, Philadelphia 2009, 2012, 2015, 2018, 2022.
- 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
- 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
- Penny DJ, Vick GW 3rd.
Ventricular septal defect
Lancet. 2011 Mar 26;377(9771):1103-12.
PMID: 21349577