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atrial septal defect (ASD)

Etiology: 1) persistent ostium primum 2) persistent ostium secundum (most common) 3) persistent sinus venosus Epidemiology: - other than bicuspid aortic valve, most frequent form of congenital heart disease in adults Pathology: 1) left to right shunt lesions may produce elevated pulmonary pressure & pulmonary vascular disease (infrequent) [3] 2) right heart failure may occur by 3rd-4th decade of life 3) shunting occurs during diastole a) initially left to right b) right atrial enlargement occurs c) increased pulmonary blood flow may lead to pulmonary hypertension d) pulmonary hypertension may cause decreased right ventricular compliance & shunt reversal e) shunt reversal (right to left) or Eisenmenger's syndrome results in cyanosis Genetics: - defects in NKX2-5 associated with atrial septal defect with atrioventricular conduction defects Clinical manifestations: 1) dyspnea, fatigue 2) fixed splitting of S2 - nearly pathognomonic for atrial septal defect - increased P2 suggests pulmonary hypertension 3) jugular venous distension 4) early-mid systolic murmur at right upper sternal border - pulmonary outflow murmur - best heard over pulmonic area - may radiate to back [3] - crescendo-decresendo 5) large left to right shunt may cause tricuspid diastolic flow rumble 6) murmur often found in pregnancy from increased intravascular volume [3] 7) prominent right parasternal impulse - right ventricular heave [3] - may be felt at left sternal border 8) atrial arrhythmia may be presenting symptom [3] (although generally absent) 9) clubbing of fingers & toes [3] - *distinguish from Eisenmenger's syndrome - clubbing of toes Special laboratory: 1) electrocardiogram - may show arrhythmia - ostium secundum ASD: - right axis deviation - incomplete right bundle branch block [3] - ostium primum ASD: - left axis deviation - 1st degree AV block - sinus venosus ASD: abnormal P axis 2) transthoracic echocardiogram, US of atrial septum a) right ventricular enlargement b) increased pulmonary artery flow 3) cardiac catheterization - pulmonary hypertension [3] - identification & closure of defect Radiology: - chest X-ray - right heart may be enlarged - prominent pulmonary artery - increased pulmonary vascularity Complications: 1) right ventricular enlargement, cor pulmonale 2) mitral regurgitation, tricuspid insufficiency 3) pulmonary hypertension (rare) 4) atrial fibrillation 5) thromboembolism, stroke 6) residual shunt post surgical repair (rare) [3] Management: 1) surgical closure [3,4] a) indications - symptomatic patients, dyspnea, right heart failure - patients with pulmonary/systemic blood flow of > 1.5 [3] - atrial arrhythmias b) contraindications: shunt reversal (right to left) - closure contraindicated if pulmonary vascular resistance is very high & shunt reversal is present [3] c) reported to increase survival in patients > 40 years of age d) percutaneous device closure for ostium secundum ASD e) open surgical closure for ostium primum ASD & mitral valve defects [3] f) asymptomatic patients without right heart enlargement with small atrial septal defects (pulmonary/systemic blood flow of < 1.5) can be followed clinically & with echocardiography [3] g) aspirin + clopidogrel may reduce number of migraine headaches relative to aspirin alone after surgical closure [5] 2) pharmacologic therapy - treatment of hypertension - treatment of coronary artery disease 3) prognosis of patients with significant right to left shunts is poor (even with surgery)

Interactions

disease interactions

Related

Eisenmenger's syndrome ostium primum (interatrial foramen primum) ostium secundum (interatrial foramen secundum)

Specific

atrial septal defect type 2 (ASD2) atrial septal defect type 3 (ASD3) atrial septal defect type 4 (ASD3) atrial septal defect type 5 (ASD5) atrial septal defect type 6 (ASD6) persistent ostium primum (partial atrioventricular canal) persistent ostium secundum persistent sinus venosus

General

cardiac septal defect

Database Correlations

OMIM correlations

References

  1. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 868
  2. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 45-46
  3. Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2006, 2009, 2012, 2015, 2018, 2022.
  4. Humenberger M, Rosenhek R, Gabriel H et al Benefit of atrial septal defect closure in adults: impact of age. Eur Heart J. 2011 Mar;32(5):553-60 PMID: 20943671
  5. Rodes-Cabau J et al Effect of Clopidogrel and Aspirin vs Aspirin Alone on Migraine Headaches After Transcatheter Atrial Septal Defect Closure. The CANOA Randomized Clinical Trial. JAMA. Published online November 09, 2015 PMID: 26551304 http://jama.jamanetwork.com/article.aspx?articleid=2469193
  6. Brida M, Chessa M, Celermajer D et al Atrial septal defect in adulthood: a new paradigm for congenital heart disease. Eur Heart J. 2022 Jul 21;43(28):2660-2671. PMID: 34535989 Review.