Congenital Heart Disease

1. Congenital Heart Disease Prof. PavlyshynH.A.

2. Congenital heart disease (CHD) – general points • is a defect in the structure of the heart and • great vessels which is present at birth • CHD are the main cause of defect-related deaths • Incidence is 8-9/1000 live births • • More common in premature infants • • May be associated with a significant musculoskeletal defect • (e.g. diaphragmatic hernia, exomphalos, tracheo-oesophageal fistula, imperforate anus)

3. Congenital heart disease (CHD) • Causes are multifactorial and include maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus), maternal infections (Rubella), drugs (lithium, thalidomide), known teratogens,harmful habits (alcohol, hydantoin) and associations with chromosomal abnormality or other recognized patterns of malformation or syndrome; Trisomy 18 100%have CHD

4. Evaluation of the newborn

5. Recognition of Cyanosis • Cyanosis = blue color of skin and mucous membranes • caused by reduced oxygen content • oxygen content of blood depends upon: Hgb level oxygen saturation blood flow • cyanosis usually noted when Sat’s <86% • cyanosis more easily seen in polycythemia • cyanosis more difficult to see in anemia • Acrocyanosis vs. central cyanosis

6. Recognition of Cyanosis • Central cyanosis • noted in the trunk, tongue, mucous membranes • due to reduced oxygen saturation • Peripheral cyanosis • noted in the hands and feet, around mouth • due to reduced local blood flow

7. Recognition of Cyanosis Differential cyanosis 1. pink upper, blue lower CoA (Coarctation of the aorta), IAA (Interrupted aortic arch), Pulm Htn 2. blue upper, pink lower Transposition of the great vessels d-TGA with pulm Htn dextro-Transposition of the great arteries *indicates serious underlying cardiac or lung disease*

8. Chest Radiograph may be helpful Thefollowinglesionspresentwithreducedpulmonaryvascularmarkings • • TetralogyofFallot (TOF) • • Pulmonaryatresia • • Tricuspidatresia • • Criticalpulmonarystenosis ThefollowinglesionspresentwithincreasedpulmonaryvascularmarkingsonchestX-ray • • VSD, Transpositionofthegreatarteries (TGA) • • Truncusarteriosus • • Totalanomalouspulmonaryvenousdrainage (TAPVD)

9. A 15-year-old girl with short stature, neck webbing, and sexual infantilism is found to have coarctation of the aorta. A chromosomal analysis likely would demonstrate which of the following? • a. Mutation at chromosome 15q21.1 • b. Trisomy 21 • c. XO karyotype • d. Defect at chromosome 4p16 • e. Normal chromosome analysis

11. Acyanotic Congenital Heart Disease↑ Pulmanary blood flow Left-to-Right Shunt Lesions • Patent DuctusArteriosus (PDA) • AtrialSeptal Defect (ASD) • Ventricular Septal Defect (VSD) • AtrioventricularSeptal Defect (AV Canal)

12. Patent Ductus Arteriosus • PDA – Persistence of the normal fetal vessel that joins the PA to the Aorta. • Normally closes in the 1st wk of life. • Female:Male ratio of 2:1 • Often associated w/ coarctation & VSD.

13. to R arm & head To L arm MHMC PDA ligation

14. Patent Ductus Arteriosus Hemodynamics • As a result of higher aortic pressure, blood shunts L to R through the ductus from Aorta to PA.

15. Patent Ductus Arteriosus Clinical Signs & Symptoms • tachycardia • respiratoryproblems - shortnessofbreath • Poorgrowth • Differentialcyanosis - cyanosisofthelowerextremitiesbutnotoftheupperbody.

16. Patent Ductus Arteriosus Clinical Signs & Symptoms • Characteristic systolic-diastolic murmur at the base of the heart with maximum in the PA • It localized to the 2nd left intercostal space or radiate down the left sternal border or to the left clavicle.

17. Patent Ductus Arteriosus Clinical Signs & Symptoms • Classiccontinuous machine-like murmur • It begins soon after onset of the 1st sound, reaches maximal intensity at the end of systole, and wanes in late diastole. • prominent apical impulseenlargedheart, • Leftsubclavicularthrill • Boundingpulse • Widenedpulsepressure

18. Chest X-ray • pulmonary vascularity is increased; • enlargement of left sided heart

19. Patent Ductus Arteriosus Treatment • Indomethacin - can be used in premature infants (0.2mg/kg) • Ibuprofen -10-5-5 mg\kg • PDA requires surgical or catheter closure. • Closure is required treatment heart failure & to prevent pulmonary vascular disease. • Mortality is < 1%

20. How can you characterize the PDA? • Cyanotic CHD with R-to-L shunt • Cyanotic CHD with mixed blood flow • Acyanotic CHD with R-to-L shunt • Acyanotic CHD with L-to-R shunt • Cyanotic CHD with ↓ Pulmonary blood flow

21. Ventricular Septal Defect • VSD – is an abnormal opening in the ventricular septum, which allows free communication between the Rt & Lt ventricles. • Accounts for 25% of CHD.

22. Ventricular Septal Defect • During systole some of the blood from the LV leaks into the RV, passes through the lungs and reenters the LV via the pulmonary veins and LA. • Such circuitous route of blood causes volume overload on the LV. • The LV normally has a much higher systolic pressure (~100 mm Hg) than the RV (~85 mm Hg) and through VSD blood leaks into the RV and elevates RV pressure and volume, causing Pulm HTN. • These changes lead to elevated RV & pulmonary pressures & volume hypertrophy of the LA & LV.

23. Ventricular Septal Defect Clinical Signs & Symptoms • Small - moderate VSD, 3-6mm, are usually asymptomatic. Small defects located predominantly in the muscular septum with slight hemodynamic impairment (Tolochinov-Roge disease) • Moderate – large VSD, almost always have symptoms and will require surgical repair.

24. Ventricular Septal Defect Clinical Signs & Symptoms • If the defect is large and pulmonary vascular resistance is not significantly elevated (L-t-R-shunt) – growth failure, CHF, repeated lower respiratory tract infections (begin at 1-2month); • If the defect is large and pulmonary vascular resistance is very high (Eisenmenger’s reaction) – shortness of breath, dyspnea on exertion, chest pain, cyanosis;

25. Ventricular Septal Defect Listen at the back for radiation of murmurs • Pansystolic/holosystolic murmur - loud, harsh, blowing heard best over the LLSB, frequently is accompanied by thrill (depending upon the size of the defect) +/- • more prominent with small VSD, may be absent with a very large VSD.

26. Ventricular Septal Defect • Chest X-ray: • increased pulmonary vascularity, • enlargement of the LA and LV;

27. CXR: progressive dilatation of heart. • cardiomegaly • increased pulmonary vascularity, • enlargement • of the LA and LV;

28. V1 І V2 ІІ V3 ІІІ V4 AVR V5 AVL AVF V6 ECG: overload of LV and RV LA, LV or biventricular hypertrophy. RV hypertrophy predominates when pulmonary vascular resistance is high.

29. Ventricular Septal Defect Treatment • Small VSD - no surgical intervention, no physical restrictions; • Bacterial endocarditis prophylaxis is indicated. • Symptomatic VSD - Medical treatment initially with afterload reducers & diuretics.

30. Atrial Septal Defect - ASD • is a form of CHD that enables blood flow between the left and right atria via the interatrial septum (it is possible for blood to travel from the left side to the right side of the heart). • Seen in 10% of all CHD. • There are 3 major types: • Secundum ASD • Primum ASD – low in the septum • •Sinus VenosusASD Sinus Venosus

31. ASD with left-to-right shunt In normal, the chambers of the left side of the heart are higher pressure than of the right side;

32. ASD with left-to-right shunt • In the case of a large ASD (>9mm), may result in left-to-right shunt, blood will shunt from the LA to the RA. • This extra blood may cause a volume overload of both the right atrium and the right ventricle. • Ultimately the RV must push out more blood than the LV due to the L-to-R shunt. This condition can result in eventually RV-failure(dilatation and decreased systolic function) and Pulm Htn.

33. Atrial septal defect with left-to-right shunt • When the pressure in the RA rises to the level in the LA, the left-to-right shunt will diminish or cease. • When the pressure in the RA to be higher than the pressure in the LA and will reverse the shunt →right-to-left shunt will exist (this phenomenon is known as Eisenmenger’s syndrome).

34. Atrial SeptalDefect Clinical Signs & Symptoms • Most are asymptomatic, but may have easy fatigability, mild growth failure, frequent lower respiratory tract infection. • Cyanosis does not occur unless Pulm HTN or R-to-L shunt is present.

35. Atrial Septal Defect • Physical finding • •mild left precordial bulge (hyperactive precordium); • RV heave (RV systolic lift • is palpable at the LSB); Feel the precordium for hyperactivity and for thrills

36. Atrial Septal Defect • Loud 1st heart sound, sometimes pulmonic ejection click; • The 2nd heart sound is widely split and fixed in all phases respiration;

37. Listen carefully Systolic ejection murmur – its medium pitched, seldom accompanied by a thrill, and best heard at the LSB (left middle and upper sternal border); Short, rumbling mid-diastolic murmur produced by the increased volume of blood flow across the tricuspid valve is often audible at the LLSB (lower left sternal border) .

38. Atrial Septal Defect Diagnosis • X-ray chest: pulmonary vascularity is increased • ECG: right-axis deviation; • Echo-CG: RV is enlarged, defect is visualized;

39. І V1 ІІ V2 ІІІ V3 AVR V4 V5 AVL AVF V6 ECG: right-axis deviation, hypertrophy RV, RA

40. Atrial Septal Defect Treatment: • Surgical or catheterization laboratory closure is generally recommended for secundum ASD. • Closure is performed electively between ages 2 & 5 yrs to avoid late complications. • • Mortality is < 1%.

41. Acyanotic Congenital Heart DiseaseObstruction to blood flow from ventricles • Coarctation of the Aorta • Pulmonary Stenosis • Aortic Stenosis

42. Coarctation of the Aorta • Coarctation- is narrowing of the aorta at varying points anywhere from the transverse arch to the iliac bifurcation. • Male: Female ratio 3:1. • Accounts for 7 % of all CHD.

43. Coarctation of the Aorta Hemodynamics • Obstruction of left ventricular outflow  LV afterload increases  pressure hypertrophy of the LV.

44. Coarctation of the Aorta Clinical Signs & Symptoms • Higher BP in the upper extremities as compared to the lower extremities. • 90% have systolic hypertension of the upper extremities.

45. Coarctation of the Aorta • Clinical Signs & Symptoms • Classic signs of coarctation are diminution or absence of femoral pulses. • Pulse discrepancy between rt & lt arms. Feel the pulses especially brachial and femoral

46. Coarctation of the Aorta Clinical Signs & Symptoms • Sings of low cardiac output, poor peripheral perfusion - LEhypoperfusion, acidosis, HF and shock. • Decreased and delayed pulses in lower extremities. • Systolic ejection murmur @ LSB. • Cardiomegaly, rib notching on X-ray.

47. Coarctation of the Aorta rib notching

48. Coarctation of the Aorta Treatment • With severe coarctation maintaining the ductus with prostaglandin E is essential. • Surgical intervention, to prevent LV dysfunction. • Angioplasty is used by some centers. • Balloon angioplasty is the procedure of choice.

49. Pulmonary Stenosis • Pulmonary Stenosis is obstruction in the region of either the pulmonary valve or the subpulmonary ventricular outflow tract. • Accounts for 7-10% of all CHD. • Most cases are isolated lesions

50. Pulmonary Stenosis Hemodynamics • RV pressure hypertrophy RV failure. • RV pressures maybe > systemic pressure. • Post-stenotic dilation of main PA. • W/intact septum & severe stenosis  R-L shunt through FO  cyanosis. • Cyanosis is indicative of Critical PS.