1. Congenital Heart Disease By Jonathan Phillips, D.O. Internal Medicine Lecture Series

2. Introduction Atrial septal defects (ASDs) are the most common congenital lesion in adults after bicuspid aortic valves. Although ASDs are often asymptomatic until adulthood, potential complications of an undetected lesion include irreversible pulmonary hypertension, right ventricular failure, atrial arrhythmias, paradoxical embolization and cerebral abscess.

3. Defect Identification In most patients, echocardiography provides the desired information related to the presence of an ASD, the size of the defect, and associated abnormalities or complications.

4. Echocardiography Echocardiography is the test of choice for the diagnosis of ASD. Transthoracic echocardiography is usually definitive in ostium secundum defects, while transesophageal echocardiography may aid in the sizing of defects, the diagnosis of sinus venosus defects, and the assessment of associated congenital anomalies or other abnormalities such as mitral valve prolapse.

5. TEE Transesophageal echocardiography (TEE) is superior to TTE in its ability to image the interatrial septum and is often used when definitive results are not seen with TTE and in patients with chest wall deformities and lung disease in whom transthoracic echocardiographic windows may be poor.

6. M-mode M-mode — The M-mode echocardiogram usually shows right ventricular enlargement in moderate and large ostium secundum ASDs, and paradoxical motion of the interventricular septum

7. TEE with contrast

8. Cardiac catheterization Determination of the presence of an ASD by catheterization involves sampling of the oxygen content in the inferior vena cava, superior vena cava, right atrium, right ventricle, and pulmonary artery; a "step-up" in oxygen saturation is indicative of a shunt.

9. ASD Initial symptoms associated with an ASD may be mild and ignored by the patient. Atrial arrhythmias, exercise intolerance, fatigue, dyspnea, and overt heart failure are common manifestations of symptomatic ASDs.

10. ASD Cardiac catheterization, because it is invasive, is rarely indicated for diagnostic purposes in patients with an ASD.

11. Clinical Manifestations It is estimated that most patients with an ASD with significant shunt flow (ie, pulmonary to systemic flow more than 2:1) will be symptomatic and require surgical correction by the age of 40.

12. Atrial arrhythmias Atrial arrhythmias are a common manifestation of an ASD. Patients with atrial fibrillation are at risk for embolic events, particularly if not appropriately anticoagulated

13. Stroke due to paradoxical embolization Patients with ASD with a right-to-left shunt are at risk for stroke due to paradoxical embolization (stroke, transient ischemic attack, or peripheral emboli). Right-to-left shunting occurs in some patients at rest and in others during transient increases in right- sided pressure (eg, with a Valsalva maneuver or coughing).

14. ASD In addition, right-to-left shunting can be persistent in the presence of pulmonary hypertension However, some patients do not become symptomatic until 60 years of age or older.

15. Cyanosis Cyanosis in patients with ASD is usually associated with Eisenmenger syndrome in which there is shunting of unoxygenated blood from the right to the left atrium. In addition, transient reversal of the atrial pressure gradient and transient cyanosis can be induced by some respiratory maneuvers, such as forceful crying, Valsalva, and cough.

16. Physical Findings The classic physical findings of an ASD are related to the degree and duration of the defect. The findings involve precordial palpation, heart sounds, and heart murmurs, and include the abnormalities associated with Eisenmenger syndrome.

17. Physical findings An enlarged and hyperdynamic right ventricle can produce a right ventricular heave that is most pronounced along the left sternal border and in the subxiphoid area. It can also cause chest wall deformity with asymmetry and a left precordial bulge.

18. Heart sounds The characteristic finding in ASDs with large left- to-right shunts and normal pulmonary artery pressure is wide, fixed splitting of the second sound (S2), in contrast to the normal variation in splitting during the respiratory cycle. The second sound should be evaluated when the patient is sitting or standing because splitting may be relatively wide but not fixed in the supine position.

19. Pulmonary hypertension Right-to-left shunting due to pulmonary hypertension in the occasional patient with ASD may be associated with the following auscultatory findings: A right ventricular fourth heart sound A midsystolic ejection click A midsystolic pulmonic murmur that is softer and shorter because the ejected stroke volume is less and atrial enlargement

20. Pulmonary HTN with ASD No tricuspid flow murmur Increased intensity of the pulmonic component of S2, but no fixed splitting A pulmonic insufficiency murmur, if present, is high-pitched A holosystolic murmur of tricuspid insufficiency may result from right ventricular and atrial enlargement

21. Electrocardiogram The electrocardiogram (ECG) may be normal with an uncomplicated ASD and small shunt. Most affected individuals have normal sinus rhythm, but atrial arrhythmias often occur beyond the third decade (especially atrial fibrillation but also atrial flutter and supraventricular tachycardia).

22. EKG and ASD P waves are typically normal with secundum ASDs. In comparison, sinus venosus ASDs are often associated with a leftward frontal plane P- wave axis First degree AV block can occur in any type of ASD, but is classically present in ostium primum defects in association with complete right bundle branch block and left anterior fascicular block.

23. EKG and ASD The frontal plane QRS axis often ranges from +95º to +135º (right axis deviation) with a clockwise loop. The QRS complex is often slightly prolonged and has a characteristic rSr' or rsR' pattern

24. EKG and ASD A notch on the R wave in the inferior leads (a pattern called "crochetage") has also been suggested as a sensitive and specific electrocardiographic sign of ASD

25. Chest X-ray The chest radiograph reflects the dilatation of the right atrium, ventricle, and pulmonary arteries. Left atrial enlargement may be seen if there is associated mitral regurgitation. Shunt vascularity is characterized by enlarged main pulmonary arteries and pulmonary vessels, without redistribution of flow to the apical vessels

26. Indications for Defect Closure There are two main indications for closure of an ASD: the development of symptoms, and a high rate of shunt flow. Symptoms — Exercise intolerance, fatigue, dyspnea, overt heart failure, and paradoxical embolization are manifestations of symptomatic ASDs that warrant defect closure.

27. Surgical Closure Technique — The traditional surgical approach for ASD repair has been a median sternotomy, although a right anterolateral submammary subpectoral approach to produce a cosmetic incision has been preferred in females. However, there has been increased use of minimally invasive surgery, which has become an alternative to open repair or percutaneous closure in selected patients.

28. Postoperative management There are a number of postoperative considerations in patients who have undergone ASD repair. Beta blockers, if not contraindicated, should be given to reduce the risk of postoperative AF.

29. Management Anticoagulation is often recommended for several months after surgery in adults undergoing ASD closure because of concern about postoperative AF.

30. Participation in Sports An ASD can have a varying degree of impact on the right heart and on cardiac performance during athletic activity. As delineated by the 2005 36th Bethesda Conference on Eligibility Recommendations for Competitive Athletes with Cardiovascular Abnormalities, the recommendations for athletics in patients with an untreated ASD vary with the severity of the defect.

31. Sports and ASD Athletes with small defects, normal right heart volume, and no pulmonary hypertension can participate in all sports. Athletes with a large ASD and normal pulmonary artery pressure can participate in all competitive sports.

32. Sports and ASD Athletes with an ASD and mild pulmonary hypertension can participate in low- intensity competitive sports Athletes with an ASD of moderate-to-large size should have the defect closed surgically or by a percutaneous catheter.

33. Bicuspid Aortic Valve The most common anomaly, more common in men. Can progress to aortic insufficiency or stenosis. Seen with early systolic click and associated with an outflow murmur. Diagnosis with echo, these patients are at increased risk of endocarditis. These patients are increased risk of aortic dissection and coarctation of the aorta.

34. Bicuspid Aortic valve Screening by echo Simultaneous palpations of the brachial and femoral pulses may reveal a pulse delay.

35. Acyanotic adult with VSD The shunt is usually small Larger defects present at childhood with CHF or pulmonary hypertension The most common location is the perimembranous region near the tricuspid valve A loud holosystolic murmur is typically associated with a small defect and normal pulmonary vascular resistance. Closure of VSD is with systemic to pulmonary shunt 1.7 : 1.0 or left ventricular overload

36. Acyanotic adult with VSD Physical exam-displaced apical impulse, mitral diastolic rumble, S3. Echo-evidence of LVH LVH-suggests pulmonary hypertension or pulmonary valve stenosis.

37. Eisenmenger syndrome The development of Eisenmenger physiology is accompanied by signs of right ventricular failure (including elevated jugular venous pressure, hepatic congestion, and pedal edema), cyanosis, and clubbing, in addition to the auscultatory features of pulmonary hypertension described above.

38. Patient Foramen Ovale In 20% of people this interatrial communication persists Can lead to interatrial aneursym Associated risk with CVA due to paradoxical embolization Treatment with symptoms is device closure

39. Tetralogy of Fallot The most form of cyanotic heart disease Most adults have had repair Pulmonary valve insufficiency leading to right dilation is common. Pulmonary valve replacement is indicated when the QRS is greater than 180ms.

40. Transposition of the great arteries Atrial switch procedure Right ventricle continues to support the systemic circulation and is subject to failure. Sick sinus syndrome and atrial arrythmias will need pacemaker, radiofrequency ablation or antiarrhythemic drugs.

41. Competency Exam

42. Question 1 The most common cyanotic congential heart disease is: 1. Transposition of great arteries 2. Tetralogy of Fallot 3. Eisenmenger’s syndrome 4. VSD

43. Question 1 The most common cyanotic congential heart disease? 1. Transposition of great arteries 2. Tetralogy of Fallot 3. Eisenmenger’s syndrome 4. VSD

44. Question 2 The most common cause of acyanotic congential heart disease is: 1.ASD 2.VSD 3.Bicuspid aortic valve 4.Foramen ovale

45. Question 2 The most common cause of acyanotic congential heart disease is: 1.ASD 2.VSD 3.Bicuspid aortic valve 4.Foramen ovale

46. Question 3 Indication for closure of atrial septal defects is: 1.Systemic to pulmonary shunt ratio greater than 1.7 to 1. 2.Right ventricular volume overload 3.Pulmonary pressure greater than 70mm 4.All the above

47. Question 3 Indication for closure of atrial septal defects is: 1.Systemic to pulmonary shunt ratio greater than 1.7 to 1. 2.Right ventricular volume overload 3.Pulmonary pressure greater than 70mm 4.All the above

48. End of Lecture Thank you for your attendance. This lecture will be made available at the Internal Medicine Residency website: http://IM.Official.ws

49. Congenital Heart Disease in the Adult Acyanotic 1. Atrial Septal Defect 2.Patent Foramen Ovale 3.Bicuspid aortic valve 4.Ventricular septal defect 5.Valvular pulmonary stenosis 6.Coarctation of the aorta

50. Cyanotic Patient 1. Eisenmenger’s syndrome 2. Tetralogy of Fallot 3. Transposition of the great arteries