2 Congenital heart disease (CHD) – general points is a defect in the structure of the heart andgreat vessels which is present at birthCHD are the main cause of defect-related deathsIncidence 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 18100% have CHD
5 Recognition of Cyanosis Cyanosis = blue color of skin and mucous membranescaused by reduced oxygen contentoxygen content of blood depends upon: Hgb level oxygen saturation blood flowcyanosis usually noted when Sat’s <86%cyanosis more easily seen in polycythemiacyanosis more difficult to see in anemiaAcrocyanosis vs. central cyanosis
6 Recognition of Cyanosis Central cyanosisnoted in the trunk, tongue, mucous membranesdue to reduced oxygen saturationPeripheral cyanosisnoted in the hands and feet, around mouthdue to reduced local blood flow
7 Recognition of Cyanosis Differential cyanosis1. pink upper, blue lowerCoA (Coarctation of the aorta), IAA (Interrupted aortic arch), Pulm Htn2. blue upper, pink lower Transposition of the great vesselsd-TGA with pulm Htn dextro-Transposition of the great arteries*indicates serious underlying cardiac or lung disease*
8 Chest Radiograph may be helpful The following lesions present with reduced pulmonary vascular markings• Tetralogy of Fallot (TOF)• Pulmonary atresia• Tricuspid atresia• Critical pulmonary stenosisThe following lesions present with increased pulmonary vascular markings on chest X-ray• VSD, Transposition of the great arteries (TGA)• Truncus arteriosus• Total anomalous pulmonary venous drainage (TAPVD)
9 a. Mutation at chromosome 15q21.1 b. Trisomy 21 c. XO karyotype 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 15q21.1b. Trisomy 21c. XO karyotyped. Defect at chromosome 4p16e. Normal chromosome analysis
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 2:1Often associated w/coarctation & VSD.
14 Patent Ductus Arteriosus HemodynamicsAs a result of higher aortic pressure, blood shunts L to R through the ductus from Aorta to PA.
15 Patent Ductus Arteriosus Clinical Signs & Symptomstachycardiarespiratory problems - shortness of breathPoor growthDifferential cyanosis - cyanosis of the lower extremities but not of the upper body.
16 Patent Ductus Arteriosus Clinical Signs & SymptomsCharacteristic systolic-diastolic murmur at the base of the heart with maximum in the PAIt 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 & SymptomsClassic continuous machine-like murmurIt begins soon after onset of the 1st sound, reaches maximal intensity at the end of systole, and wanes in late diastole.prominent apical impulse enlarged heart,Left subclavicular thrillBounding pulseWidened pulse pressure
18 Chest X-ray pulmonary vascularity is increased; enlargement of left sided heart
19 Patent Ductus Arteriosus TreatmentIndomethacin - can be used in premature infants (0.2 mg/kg)Ibuprofen mg\kgPDA 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 shuntCyanotic CHD with mixed blood flowAcyanotic CHD with R-to-L shuntAcyanotic CHD with L-to-R shuntCyanotic 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 usuallyasymptomatic.Small defects located predominantly in the muscular septum with slight hemodynamic impairment (Tolochinov-Roge disease)• Moderate – large VSD, almost always havesymptoms and will require surgical repair.
24 Ventricular Septal Defect Clinical Signs & SymptomsIf 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 murmursPansystolic/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. cardiomegalyincreased pulmonary vascularity,enlargementof the LA and LV;
28 ECG:overload of LV and RVІІІІІІAVRAVLAVFV1V2V3V4V5V6LA, LV or biventricular hypertrophy. RV hypertrophy predominates when pulmonary vascular resistance is high.
29 Ventricular Septal Defect Treatment• Small VSD - no surgical intervention, nophysical restrictions;Bacterial endocarditis prophylaxis is indicated.• Symptomatic VSD - Medical treatmentinitially 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 ASDPrimum ASD – low in the septum• Sinus Venosus ASDSinus 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 Clinical Signs & Symptoms Atrial Septal DefectClinical 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 RV heave (RV systolic lift • mild left precordial bulge (hyperactive precordium);RV heave (RV systolic liftis palpable at the LSB);Feel the precordium for hyperactivityand for thrills
36 Atrial Septal DefectLoud 1st heart sound, sometimes pulmonic ejection click;The 2nd heart sound is widely split and fixed in all phases respiration;
37 Listen carefullySystolic 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 increasedECG: right-axis deviation;Echo-CG: RV is enlarged, defect is visualized;
39 right-axis deviation, hypertrophy RV, RA ІІІІІІAVRAVLAVFV1V2V3V4V5V6ECG: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 Coarctation of the Aorta Acyanotic Congenital Heart Disease Obstruction to blood flow from ventriclesCoarctation of the AortaPulmonary StenosisAortic 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 HemodynamicsObstruction of left ventricular outflow LV afterload increases pressure hypertrophy of the LV.
44 Coarctation of the Aorta Clinical Signs & SymptomsHigher 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 pulsesespecially brachial and femoral
46 Coarctation of the Aorta Clinical Signs & SymptomsSings of low cardiac output, poor peripheral perfusion - LE hypoperfusion, acidosis, HF and shock.Decreased and delayed pulses in lower extremities.Systolic ejection LSB.Cardiomegaly, rib notching on X-ray.
48 Coarctation of the Aorta TreatmentWith 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 StenosisPulmonary 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 areisolated 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.
51 Clinical Signs & Symptoms Pulmonary StenosisClinical Signs & SymptomsDepends on the severity of obstruction.Asymptomatic w/ mild PS < 30mmHg.Mod-severe: mmHg, > 60mmHgProminent jugular a-waveRV lift, RV heaveSplit 2nd hrt soundEjection click, followed by systolic murmur.Heart failure & cyanosis not relieved by inhaled oxygen seen in severe cases.
52 Pulmonary Stenosis Treatment Balloon valvuloplasty, treatment of choice.Surgical valvotomy is also a consideration.
53 Cyanotic Congenital Heart Disease Severe Cyanosis PaO2 ≤ 40 mmHgObstruction to RV outflow causes intracardiac R-to-L shuntingComplex anatomic defects cause an admixture of pulmonary and systemic venous return in the heartDecreased pulmonary blood flowTricuspid atresia, intact ventricular septumCritical pulmonary stenosisEbstein’s anomalyTetralogy of Fallot*Chest X-RayDecreased pulmonary vascular markings“Boot-shaped heart” in Tetralogy of Fallot
54 Right sided obstruction Tetralogy of FallotObstruction of RV outflow (Pulmonary stenosis);VSD;Dextroposition of the aorta with override of the ventricular septum;RV hypertrophy
55 Assessment Findings with Tetralogy of Fallot Symptoms are variable depending of degree of obstructionCyanosis – is variable (isn’t present at the birth, occurs later in the 1st yr of life)Digital clubbing and hyperpnea at rest are directly related to the degree of cyanosisTachycardiaMental retardationRetarded growth and developmentRV heaveSystolic ejection murmur is heard along the left sternal border
56 Assessment Findings with Tetralogy of Fallot Paroxymal dyspneaSevere dyspnea on exertionSquatting position for the relief of dyspnea caused physical effort,“Blue” spells, “tet” spells, paroxysmal hypercyanotic attacks – infant becomes hyperpnea, restless, cyanosis increases, gasping respirations, syncope
57 Hypercyanotic Spells/Blue Spells/Tet Spells Clinical Manifestations٭ Most often occurs in morning after feedings, defecation, or crying٭ Acute cyanosis٭ Hyperpnea٭ Inconsolable crying٭ Hypoxia which leads to acidosis
62 d-Transposition of the Great Arteries PathophysiologyCyanosis due to failure of delivery of pulmonary venous blood to the systemic circulationTwo parallel circulations with no mixingOpen atrial septum (fossa ovalis) allows some left-to-right shunt, enhanced by a left-to-right ductus arteriosus shuntPresence of ventricular septal defect facilitates mixing
63 Transposition of the Great Arteries Aorta from right ventricle, pulmonary artery from left ventricle.Cyanosis from birth, hypoxic spells sometimes present.Heart failure often present.Cardiac enlargement and diminished pulmonary artery segment on x-ray.
64 Transposition of the Great Arteries Anatomic communication must exist between pulmonary and systemic circulation, VSD, ASD, or PDA.Untreated, the vast majority of these infants would not survive the neonatal period.
65 Transposition of the Great Arteries Clinical Manifestations Cyanosis, tachypnea are most often recognized within the 1st hrs or days of life.Hypoxemia is usually moderate to severe, depending on the degree of atrial level shunting and whether the ductus is partially open or totally closed.Physical findings, other than cyanosis, may be remarkably nonspecific.Murmurs may be absent, or a soft systolic ejection murmur may be noted at the midleft sternal border.
66 d-Transposition of the Great Arteries Chest filmOval-shaped heartNarrow mediastinumNormal or increased pulmonary vascular markings
67 D-Transposition of the Great Arteries This condition is a medical emergency,and only early diagnosis and appropriate intervention can avert the development of prolonged severe hypoxemia and acidosis,which lead to death
68 TreatmentWhen transposition is suspected, an infusion of prostaglandin E1 should be initiated immediately to maintain patency of the ductus arteriosus and improve oxygenation.Endotracheal intubationInfants who remain severely hypoxic or acidotic despite prostaglandin infusion should undergo Rashkind balloon atrial septostomyA Rashkind atrial septostomy is also usually performed in all patients in whom any significant delay in surgery is necessary.
69 Preventing Birth Defects Stop smokingAvoid drinking alcohol while pregnantTake a daily vitamin containing folic acidCheck with your doctor to make sure any medication (over-the-counter or prescription) is safe to take during pregnancyStop use of any illegal or "street" drugs