1 / 31

Congenital Diseases

Congenital Diseases. Dr. Gerrard Uy. Congenital Heart Disease. 0.5-0.8% of live births incidence is higher in stillborns (3-4%), abortuses (10-25%), and premature infants (about 2%)

bin
Download Presentation

Congenital Diseases

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Congenital Diseases Dr. GerrardUy

  2. Congenital Heart Disease • 0.5-0.8% of live births • incidence is higher in stillborns (3-4%), abortuses (10-25%), and premature infants (about 2%) • diagnosis is established by 1 wk of age in 40-50% of patients with congenital heart disease and by 1 mo of age in 50-60%

  3. Etiology • Result of aberrant embryonic development of a normal structure or failure to progress beyond an early stage of embryonic or fetal development

  4. Pathophysiology • The anatomic and physiologic changes in the heart and circulation due to any CHD are not static • Progress from prenatal life to adulthood • Consequences: • Pulmonary hypertension • Erythrocytosis • Pregnancy related complications • Infective endocarditis

  5. Relative frequency of Major Congenital lesions • Ventricular septal defect25-30 • Atrial septal defect (secundum)6-8 • Patent ductus arteriosus6-8 • Coarctation of aorta5-7 • Tetralogy of Fallot5-7 • Pulmonary valve stenosis5-7 • Aortic valve stenosis4-7

  6. Relative Frequency of Major Congenital lesions • d-Transposition of great arteries3-5 • Hypoplastic left ventricle1-3 • Hypoplastic right ventricle1-3 • Truncus arteriosus1-2 • Total anomalous pulmonary venous return1-2 • Tricuspid atresia1-2 • Single ventricle1-2 • Double-outlet right ventricle1-2 Others5-10

  7. Fetal circulation

  8. Congenital Disease • Most congenital defects are well tolerated in the fetus because of the parallel nature of the fetal circulation • only after birth when the fetal pathways (ductusarteriosus and foramen ovale) are closed that the full hemodynamic impact of an anatomic abnormality becomes apparent

  9. Etiology • Cause is unknown • There is progress in identifying genetic basis of many congenital heart lesions • small percentage - related to chromosomal abnormalities, in particular, trisomy 21, 13, and 18 and Turner syndrome • 2-4% -associated with known environmental or adverse maternal conditions and teratogenic influences, including maternal diabetes mellitus, phenylketonuria, or systemic lupus erythematosus

  10. diabetic mothers are five times more likely to have congenital cardiovascular malformations • most congenital heart disease is still relegated to a multifactorial inheritance pattern • Fetal echocardiography improves the rate of detection

  11. 2 major groups • Acyanotic Congenital heart lesions • Cyanotic Congenital heart lesions

  12. Acyanotic Congenital heart lesions • Increased volume load: • ASD (atrial septal defect) • VSD (ventricular septal defect) • AV septal defects • PDA (patent ductus arteriosus) • Increased pressure load: • valvular pulmonic stenosis • valvular aortic stenosis • coarctation of the aorta

  13. Cyanotic Congenital heart lesions • Decreased Pulmonary Blood Flow - obstruction to pulmonary blood flow and a pathway by which systemic venous blood can shunt from right to left and enter the systemic circulation • tricuspid atresia • Tetralogy of Fallot • single ventricle with pulmonary stenosis • Increased Pulmonary Blood flow • Transposition of the great vessels • Total anomalous pulmonary venous return • Truncus arteriosus

  14. PDA (patent ductus arteriosus)

  15. Pathophysiology • blood shunts left to right through the ductus • from the aorta to the pulmonary artery • pulmonary artery pressure may be elevated to systemic levels during both systole and diastole • risk for the development of pulmonary vascular disease if left unoperated

  16. Manifestations • small patent ductus does not usually have any symptoms • large PDA will result in heart failure • Cardiac enlargement • Classic continuous murmur (machinery-like)

  17. Diagnosis • ECG • Left ventricular hypertrophy • Xray • prominent pulmonary artery with increased intrapulmonary vascular markings • 2D echocardiography • left atrial and left ventricular dimensions are increased • Visualization of the patent ductus

  18. Treatment • Irrespective of age, patients with PDA require surgical or catheter closure • should not be unduly postponed after adequate medical therapy for cardiac failure has been instituted • thoracoscopic techniques to minimize scarring and reduce postoperative discomfort

  19. Atrial Septal Defect

  20. Atrial Septal Defect • Occurs more frequently in females • 3 types: • Sinus venosus – near the entry of the superior vena cava into the right atrium • Ostium primum – lie adjacent to the atrioventricular valves, common in Down’s syndrome • Ostium secundum – most common and involves the fossa ovalis

  21. Ventricular Septal Defect

  22. Ventricular Septal Defect • Opening is usually single • Situated in the membranous portion of the septum • Spontaneous closure is more common in patients born with a small VSD • Operative correction or transcatheter closure is indicated when there is moderate to large left to right shunt

  23. Acyanotic CHD without a shunt • Valvular aortic stenosis • More common in males than in females • One of the most common congenital malformations of the heart

  24. Coarctation of the Aorta

  25. Acyanotic CHD without a shunt – Coarctaion of the Aorta • Coarctation of the Aorta • May occur anywhere but is most common distal to the origin of the left subclavian artery • Occurs in ~7% of patients with CHD • More common in males • Frequent in patients with Turner’s syndrome • 10% have circle of willis aneurysms • Manifestations: • Epistaxis, headahce, cold extremities, and claudication • Hypertension in the upper extremities • Absence or delayed pulsations in the femoral arteries

  26. Cyanotic CHD – Tetralogy of Fallot

  27. Tetralogy of Fallot • 4 components: • Malaligned ventricular septal defect • Obstruction to RV outflow • Aortic override of the VSD • RV hypertrophy • ECG shows RV hypertrophy • CXR shows boot shaped heart (coeur en sabot)

  28. Cyanotic CHD- Transposition of the Great Arteries

  29. Transposition of the Great Arteries • Commonly called dextro- or D-transposition of the great arteries • The aorta arises rightward anteriorly from the right ventricle and the pulmonary artery from the left ventricle • More common in males • Accounts for ~10% of cyanotic CHD

  30. Other Cyanotic Congenital Heart Disease • Single Ventricle • Tricuspid Atresia • Characterized by atresia of the tricuspid valve, interatrial communication and hypoplasia of the right ventricle and pulmonary artery • Ebstein Anomaly • Characterized by downward displacement of the tricuspid valve into the right ventricle

More Related