Approach to patients with congenital heart disease

1. Approach to patients with congenital heart disease Dr.MazenNaghawi – Pediatric Cardiologist Albasheer hospital Pediatric department

2. Congenital heart disease congenital cardiac malformations resulting from defective embryonic development without obvious cause. Between 3-8 weeks “gestation” all the fetal heart structures are formed “organogenesis”

4. Incidence • 8-10/1000 live births in Jordan approximately 2000/ year • Incidence is more in :- a-Premature b-abortions c-still births • Incidence increased for siblings. 2-6%,10-12%,25%

5. Etiology Multifactorial inheritance pattern “mostly” • Chromosomal abnormality (5-10%). -Trisomy 21 (50%) > A-V canal,VSD,ASD, others. -Trisomy 18 (80%)> VSD,ASD,others. -Trisomy 13 (40%)> VSD,ASD,PDA,others. -Turner syndrome (xo)>Bicuspid aortic valve and co-ao -others.

6. Adverse maternal conditions (enviromential) -Maternalinfections >Rubella:PDA,PS -Maternal diseases> PKU-VSD,ASD DM:left septal hypertrophy -Drugs>fetal hydntoin syndrome- VSD Valproate effect-co ao left heart hypoplasia -Fetal alcohol syndrome> VSD,ASD,CO-AO. -Advance maternal age.

7. Syndrome complexes -VACTRELsyndromeVertebral,Anorectal,Cardiac(VSD,TOF and others),tracheal,Renal,Oesophageal and Limb abnormalities. -CHARGE syndrome “Coloboma,Heart(VSD,TOF,A-V canal), Atresia choanal,Retardation,Gential,Ear abnormalties. -Kartagener syndromeDextrocardia -TAR syndrome

8. Majority of cases of the congenital heart diseases are unknown cause

9. Classification • C.H.D with little or no cyanosis “acyanotic” a-With Lt. ventricular enlargement ex.- PDA=8% ,CO-Ao= 5% - aortic stenosis =7% b-With Rt. Ventricular enlargement ex.-ASD=10% ,PS=6%,MS c-With both ventricular enlargement ex.- VSD= 25%

10. Common acyanotic lesions • Ventricular septal defects • Atrialseptal defects • Atrio-ventricular septal defects • Patent ductusarteriosus • Truncusarteriosus • Aortic stenosis • Mitral stenosis/incompetence • Coarctation of aorta • Tricuspid regurgitation

11. C.H.D with cyanosis “mainly Rt. Lt. shunt” a-With decrease pulmonary vascularity ex.-TOF=5% , Tricuspid Artesia=1-3% - PS with or without VSD=5% b-With increase pulmonary vascularity ex.-TGA =5% ,Truncus arteriosus=2% -TAPVR=1%

12. Common Cyanotic Lesions Decreased flow 1. Tetralogy of Fallot 2. Tricuspid Atresia 3. Severe Pulmonic Stenosis 4. Ebstein’s anamoly Increased Flow 5. Transposition of great vessles 6. VSD with pulmonary atresia

13. Cont-Common Lesions producing cyanosis 7. Truncus Arteriosus 8. Hypoplastic left heart 9. Single ventricle 10. TAPVR with infradiaphragmatic obstruction

14. Cyanotic: 22% Acyanotic: 68% VSD 25% ASD 6% PDA 6% TOF 5% PS 5% AS 5% Prevalence Ceylon Med J 2001 Sep; 46 (3): 96-8; Indian J Pediatr. 2001 Aug;68 (8):757-7 Nelson’s Textbook of pediatrics; 17 ed.

15. Diagnosis • Early diagnosis of C.H.D mean better results. • 40% of C.H.D diagnosed at 1st w of life. • 50-60 % diagnosed at 1st two months . • Others are usually later during routine medical examination. • Diagnosis depend on good clinical history + good medical examination and investigations.

16. History • Age of the patient. • Ask for -Feeding difficulties -Vomiting -Lethargy -Increased perspiration -Rapid respiration -Hypoactivity -F.T.T • All may be manifestation of congestive heart failure. D.D Sepsis Metabolic disorders Hypothermia IVH Others Neonate Infant

17. Older child -History of dysnea on exertion. -Shortness of breathing. -Orthopnea. -Lower limbs swelling -Palpitation. -Convulsion. -All may be manifest of congestive heart failure.

18. Physical examination • Inspection look for: -Cyanosis -Digital clubbing -Tachypnea -Prominence of the precordium (cardiomegaly,Rt.heart enlargement ) -Jugular veins engorgement “older children” -Any associated defects or findings (down syndrome, Digorge syndrome…etc) - Focal neurological lesion. • Palpation -Pulses (rate, rythem,volume,peripherial pulses ,brachio-femoral delay) -Cardiac impulses. -Thrill. -Hyper dynamic precordium. -Hepato-splenomegaly -Sacral edema(neonate, and infancy) ,Lower limb edema in older children

19. Auscultation a-First heart sound (A-V valves closure) “Best heard at the Lt. lower sternal border or apex” b-Second heart sound (semilunar valve closure) “Best heard on the 1st and 2nd I.C.S”, normally there is normal splitting of the 2nd heart sound , -Single Aortic atresia,Pulmonary Artesia -Fixed splitting ASD,PS,Rt.B.B.B c-Murmurs Systolic Diastolic Continous

20. Blood pressure • Methods sphingnonaometer(different cuffs) -Flush method -Palpation method -Doppler method • Wide pulse pressure -Aortic insufficiency -A-V communication -PDA • Low blood pressure(H.F, pericardial tamponade,cardiomyopathy). • Difference in BP between upper and lower extremities Co-ao.

21. If we suspect C.H.D Investigation • CBC---- polycythemia, anemia….etc • CXR----heart size and shape • ECG---HR,axis www.heartaxis.com ,rythm LVH,RVH,BVH,BBB. • Echocardiography • MRI • Cardiac catheterization

22. Cyanosis: is it a cardiac cause or lung cause • Hyperoxia test • Neonates with cyanotic congenital heart disease usually do not have significantly raised arterial Pao2 during administration of 100% oxygen.

23. Small VSD Asymptomatic A loud, harsh, or blowing holosystolic murmur. Large VSD dyspnea, feeding difficulties, poor growth, profuse perspiration, recurrent pulmonary infections, and cardiac failure in early infancy. Ventricular Defect 80%

24. Ventricular Septal Defect (VSD) Small VSDs, the chest radiograph is usually normal Large VSD: The presence of right ventricular hypertrophy, olegeimic lung fields (pulmonary hypertension or an associated pulmonic stenosis), gross cardiomegaly with prominence of both ventricles, the left atrium.

25. Ventricular Septal defects • 30–50% of small defects close spontaneously, most frequently during the 1st 2 yr of life. • Small muscular VSDs are more likely to close (up to 80%) than membranous VSDs are (up to 35%). • infants with large defects have repeated episodes of respiratory infection and heart failure despite optimal medical management. • Surgical repair prior to development of an irreversible increase in pulmonary vascular resistance (usually prior to the patient's second birthday).

26. Most common form of ASD (fossa ovalis) In large defects, a considerable shunt of oxygenated blood flows from the left to the right atrium. Mostly asymptomatic The 2nd heart sound is characteristically widely split and fixed. Atrial Septal Defects: secundum Secundum

27. Situated in the lower portion of the atrial septum and overlies the mitral and tricuspid valves. In most instances, a cleft in the anterior leaflet of the mitral valve is also noted. Combination of a left-to-right shunt across the atrial defect and mitral insufficiency C/F similar to that of an ostium secundum ASD Atrial Septal Defects:primum

28. Enlargement of the right ventricle Enlargement of atrium Large pulmonary artery increased pulmonary vascularity is. Atrial Septal Defect

29. Atrial Septal Defects • Secundum ASDs are well tolerated during childhood. • Antibiotic prophylaxis for isolated secundum ASDs is not recommended. • Surgery or transcatheter device closure is advised for all symptomatic patients and also for asymptomatic patients with a Qp:Qs ratio of at least 2:1. • Ostium primum defects are approached surgically

30. Patent Ductus Arteriosus • Small defect no symptoms. • Large defect: • Wide pulse pressure • Enlarged heart • Thrill in L second IS • Continuous murmur • X-ray: prominent pulmonary artery with increased vascular markings.

31. Prominent pulmonary artery. Prominent right ventricle Prominent vascularity in the hilar areas Decreased vascualr marking in the periphery. No treatment Primary Pulmonary Hypertension

32. Cardiac disease with normal/decreased vasculature • Tetralogy of Fallot • Pulmonary atresia • Tricuspid atresia • Endocardial fibroelastosis • Aberrant left coronary artery • Cystic medial necrosis • IODM ‘septal hypertrophy”

33. Tetralogy of Fallot Ventricular septal defect Pulmonic stenosis Overriding aorta Right ventricular hypertrophy Cyanotic

34. Cardiac disease with increased vasculature • Atrioventricular septal defects • Congestive cardiac failure • Transposition of great arteries with VSD • Total anomalous pulmonary venous drainage • Truncus arteriosus • Single ventricle without pulmonary stenosis • Hypoplastic left heart syndrome

35. Enlarged heart Plethoric lung fields specially at bases Congestive Cardiac Failure

36. Boot shaped heart in pt. with TOF

37. Snow man or figure8 in pt. with TAPVR

38. Cardiomegaly

39. Cardiomegaly with pulmonary edema

40. Ribs notching in pt. with Co-Ao

41. Situs inverses

42. Acrocyanosis:Bluish discoloration of the hands and feet commonly seen in newborns

43. Suffused face due to cold around neck and not central cyanosis

45. 2D echo “Transthoraic echocardiography

46. 3D Echocardiography

47. Transoseophageal echocardiography

48. Fetal echocardiography