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congenital heart disease; congenital cyanotic heart disease

Classification: 1) acyanotic with left to right shunt a) atrial level shunt - atrial septal defect - atrial septal defect with mitral stenosis (Lutembacher complex) - partial anomalous pulmonary venous connection b) ventricular level shunt - ventricular septal defect - inlet septum - muscular septum - perimembranous septum - infundibular septum - ventricular septal defect with aortic regurgitation - ventricular septal defect with left ventricular to right atrial shunt c) aortic root to right heart shunt - rupture of sinus of Valsalva aneurysm - coronary arteriovenous fistula - anomalous origin of left coronary artery from the pulmonary trunk d) aortopulmonary level shunt - aortopulmonary window - patent ductus arteriosus e) multilevel shunts - complete common atrioventricular canal - ventricular septal defect & atrial septal defect - ventricular septal defect with patent ductus arteriosus 2) acyanotic without shunt a) left heart malformations - congenital obstruction to left atrial inflow - pulmonary vein stenosis - mitral stenosis - cor triatriatum - mitral regurgitation - atrioventricular septal defect (endocardial cushion) - congenitally-corrected transposition of the great arteries - anomalous origin of the left coronary artery from the pulmonary trunk - double orifice mitral valve - congenital perforations - accessory commissures with anomalous chordal insertion - congenitally short or absent chordae - cleft posterior leaflet - parachute mitral valve - primary dilated endocardial fibroelastosis - aortic stenosis - subvalvular - valvular - supravalvular - aortic valvular regurgitation - coarctation of the aorta b) right heart malformations - acyanotic Ebstein's anomaly of the tricuspid valve - pulmonic stenosis - subinfundibular - infundibular - valvular - supravalvular (stenosis of pulmonary artery & its branches) - congenital pulmonary valve regurgitation - idiopathic dilatation of the aortic trunk 3) cyanotic a) increased pulmonary blood flow - complete transposition of the great arteries - double-outlet right ventricle of the Taussig-Bing type - truncus arteriosus - total anomalous pulmonary venous connection - single ventricle without pulmonic stenosis - common atrium - tetralogy of Fallot with pulmonary atresia & increased collateral arterial flow - tricuspid atresia with large ventricular septal defect & no pulmonic stenosis - hypoplastic left heart (aortic atresia, mitral atresia) b) normal or decreased pulmonary blood flow - tricuspid atresia - Ebstein's anomaly with right-to-left shunt - pulmonary atresia with intact ventricular septum - pulmonic stenosis or atresia with ventricular septal defect (tetralogy of Fallot) - pulmonic stenosis with right-to-left atrial shunt - complete transposition of the great arteries with pulmonic stenosis - double outlet right ventricle with pulmonic stenosis - single ventricle with pulmonic stenosis - pulmonary arteriovenous fistula - vena cava to left atrial communication 4) other - congenitally corrected transposition of the great arteries - cardiac malposition - congenital complete heart block Clinical manifestations: - with murmur - truncus artheriosus [11] - persistent murmur in adulthood indicates incomplete repair - no murmur - transposition of the great arteries [11] - low oxygen saturation in adulthood indicates incomplete repair Laboratory: - complete blood count - normal blood hemoglobin in a patient with cyanotic heart disease is 18=20 g/dL with a hematocrit of 60-65% - iron studies if relative anemia Special laboratory: - adults with cogenital heart disease - annual surveillance including - electrocardiogram - holter monitoring - exercise stress testing Complications: Potential late post-operative complications: 1) residual shunts 2) residual ventricular outflow obstruction 3) residual valvular anomalies 4) systemic arterial hypertension 5) pulmonary vascular obstruction 6) arrhythmias & conductions defects 7) myocardial dysfunction 8) prosthetic valve dysfunction 9) prosthetic conduit dysfunction 10) infective endocarditis 11) microcephaly at birth [2] 12) developmental delay [4] , congenital heart disease may be a risk factor for dementia (RR=1.6) [10] association between infant heart defects & maternal cardiovascular outcomes [13] Management: - congenital cyanotic heart disease a) most patients have compensatory erythrocytosis & stable hemoglobin levels b) maintain blood hemoglobin < 20 g/dL if symptomatic hyperviscosity - in patients with hyperviscosity & hematocrit > 65%, exclude dehydration before considering phlebotomy c) short course of iron for iron deficiency - discontinue iron when serum ferritin & transferrin saturation normalize [3] d) no proven benefit to increasing supplemental oxygen in patients with cyanotic heart disease [15] e) elective surgery - prophylaxis for endocarditis for non sterile procedures - includes dental procedures if repair of congenital defect incomplete - intravenous line filters to prevent paradoxical air embolism - prophylaxis for venous thromboembolism [3] - adults with congenital heart disease [9] - special centers exist - consult with cardiologist at special center - encourage exercise

Interactions

disease interactions

Related

coarctation of the aorta

Specific

anomalous pulmonary venous return bicuspid aortic valve cardiac septal defect congenital heart block cor triatriatum cor triatrium cor trioculare biventriculare dextrocardia Ebstein's anomaly ectopia cordis Eisenmenger's syndrome endocardial fibroelastosis familial arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD, ARVC, ARVD/C, ARVC/D) Lutembacher complex mesocardia non-compaction of left ventricular myocardium (left ventricular non-compaction) Noonan's syndrome overriding aorta patent ductus arteriosus patent foramen ovale (PFO) persistent ostium primum (partial atrioventricular canal) persistent truncus arteriosus pulmonary atresia Scimitar syndrome; pulmonary venolobar syndrome Shone complex tetralogy of Fallot transposition of the great vessels

General

congenital anomaly (birth defect) heart disease (cardiac disease)

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1040, 1046
  2. Barbu D et al Evidence of fetal central nervous system injury in isolated congenital heart defects: Microcephaly at birth. Am J Obstet Gynecol 2009 Jul; 201:43.e1. PMID: 19446786
  3. Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17, 18. American College of Physicians, Philadelphia 2009, 2012, 2012, 2015, 2018.
  4. Marino BS, Lipkin PH, Newburger JW et al Neurodevelopmental Outcomes in Children with Congenital Heart Disease: Evaluation and Management: A Scientific Statement from the American Heart Association Circulation. 2012 Aug 28;126(9):1143-72. Epub 2012 Jul 30. PMID: 22851541 Free Article http://circ.ahajournals.org/content/early/2012/07/30/CIR.0b013e318265ee8a.full.pdf+html (corresponding NGC guideline withdrawn Dec 2017)
  5. Baumgartner H, Bonhoeffer P, De Groot NM et al ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J. 2010 Dec;31(23):2915-57. PMID: 20801927
  6. Warnes CA, Williams RG, Bashore TM et al ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: Executive Summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines for the management of adults with congenital heart disease). Circulation. 2008 Dec 2;118(23):2395-451. PMID: 18997168 - Warnes CA, Williams RG, Bashore TM et al ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am Coll Cardiol. 2008 Dec 2;52(23):e143-263 PMID: 19038677
  7. Silversides CK, Dore A, Poirier N et al Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: shunt lesions. Can J Cardiol. 2010 Mar;26(3):e70-9. PMID: 20352137
  8. Kaemmerer H, Bauer U, Pensl U et al Management of emergencies in adults with congenital cardiac disease. Am J Cardiol. 2008 Feb 15;101(4):521-5 PMID: 18312770
  9. Bhatt AB et al. Congenital heart disease in the older adult: A scientific statement from the American Heart Association. Circulation 2015 May 26; 131:1884 PMID: 25896865
  10. Bagge CN, Henderson VW, Laursen HB et al Risk of Dementia in Adults With Congenital Heart Disease: Population-Based Cohort Study. Circulation. 2018. Feb 12, 2018 PMID: 29440121 http://circ.ahajournals.org/content/early/2018/02/07/CIRCULATIONAHA.117.029686
  11. NEJM Knowledge+ Question of the Week. April 10, 2018 https://knowledgeplus.nejm.org/question-of-week/4843
  12. Puri K, Allen HD, Qureshi AM. Congenital heart disease. Pediatr Rev. 2017 Oct;38(10):471-486 PMID: 28972050
  13. Auger N, Potter BJ, Bilodeau-Bertrand M, Paradis G. Long-term risk of cardiovascular disease in women who have had infants with heart defects. Circulation 2018 Apr 2 PMID: 29610262
  14. Phillips SD, Bonnichsen CR, McLeod CJ et al Adults with congenital heart disease and previous intervention. Curr Probl Cardiol. 2013 Aug;38(8):293-357. PMID: 23906039
  15. NEJM Knowledge+
  16. Centers for Disease Control & Prevention (CDC) Congenital Heart Defects (CHDs) https://www.cdc.gov/ncbddd/heartdefects/facts.html