CONGENITAL HEART DISEASES IN NEWBORNS

Prepared by: Carolyn Teoh Shin Yee Department: Pediatrics

CONGENITAL HEART DISEASES

CHD encompass a spectrum of structural abnormalies of the heart or intrathoracic vessels. Commonly presents in the newborn with central cyanosis, heart failure, sudden collapse or heart murmur. Central Cyanosis bluish discoloration of lips and mucous membranes caused by excess deoxygenated haemoglobin (> 5 Gm/dL) confi rmed by pulse oxymetry (SpO 2 < 85%) or ABG

Heart Failure clinical presentation may mimic pulmonary diseases or sepsis: tachypnoea tachycardia hepatomegaly weak pulses Sudden Collapse can be difficult to be distinguished from sepsis or metabolic disorders: hypotension extreme cyanosis Metabolic acidosis oliguria

CHALLENGES AND PITFALLS

cyanosis is easily missed in the presence of anaemia. difficulty to differentiate cyanotic heart disease from non-cardiac causes indistinguishable clinical presentations between left heart obstructive lesions and severe sepsis or metabolic disorders possibility of CHD not considered in management of sick infant

CLINICAL APPROACH TO INFANTS WITH CONGENITAL HEART DISEASE

History antenatal scans (cardiac malformation, fetal arrhythmias, hydrops) family history of congenital heart disease maternal illness: diabetes, rubella, teratogenic medications perinatal problems: prematurity, meconium aspiration, perinatal asphyxia Physical Examination dysmorphism: Trisomy 21, 18 and 13, Turner syndrome, DiGeorge syndrome central cyanosis differential cyanosis (SpO lower limbs < upper limbs) tachypnoea weak or unequal pulses heart murmur hepatomegaly

INVESTIGATIONS CXR Hyperoxia test: -administer 100% oxygen via headbox at 15 L/min for 15 mins. -ABG taken from right radial artery -cyanotic heart diseases: pO < 100 mmHg; rise in pO is < 20 mmHg (note: in severe lung diseases & PPHN, pO can be < 100 mmHg) ECG Echocardiography

GENERAL PRINCIPLES OF MANAGEMENT

Initial stabilization ABC correct metabolic acidosis, electrolyte, hypoglycaemia; prevent hypothermia empirical treatment with IV antibiotics early cardiology consultation IV Prostaglandin E infusion if duct-dependent lesions suspected -starting dose: 10 40 ng/kg/min; maintenance: 2 10 ng/kg/min -adverse effects: apnoea, fever, hypotension unresponsive to IV prostaglandin E, consider: - TGA, obstructed total anomalous pulmonary venous drainage - blocked IV line - non-cardiac diagnosis arrangement to transfer to regional cardiac center once stabilized

WHAT IS ASD?
A "hole" in the wall that separates the top two chambers of the heart. This defect allows oxygenrich blood to leak into the oxygen-poor blood chambers in the heart.

10% of all CHD and as much as 20-40% presenting in adulthood.

Small: no treatment Large: elective closure at 4-5 yrs of age

75% of all ASD, approx 7% of all CHD and 30-40% of all CHD in patients >40 years. Incomplete adhesion between the flap valve associated with the foramen ovale and the septum secundum after birth. A combination of excessive resorption of the septum primum and a large foramen ovale produces a large ostium secundum ASD.

Caused by incomplete fusion of septum primum with the endocardial cushion. AV valves may be deformed and incompetent. In most cases, only the anterior or septal leaflet of the mitral valve is displaced, and it is commonly cleft. Tricuspid valve is usually not involved. 15-20% of all ASDs.

5-10% of all ASDs.

Abnormal fusion between the embryologic sinus venosus and the atrium causes these defects.

In most cases, the defect lies superior in the atrial septum near the entry of SVC. Often there is associated anomalous drainage of the right superior pulmonary vein. The relatively uncommon inferior type is associated with partial anomalous drainage of the right inferior pulmonary vein. Anomalous drainage can be into the right atrium, the SVC, or the IVC.

CORONARY SINUS ASD

Characterized by unroofed coronary sinus and persistent left SVC that drains into the LA. A dilated coronary sinus often suggests this defect. This can result in desaturation due to right-to-left shunt into the LA. The diagnosis can be made by injecting contrast agent into left upper extremity; coronary sinus opacification precedes right atrial opacification.

PATHOPHYSIOLOGY The chronic left-to-right shunt increased pulmonary blood flow and diastolic overload of the RV. Resistance in the pulmonary vascular bed is commonly normal in children with ASD, volume load is usually well tolerated (pulmonary blood flow may be more than 2 times systemic blood flow. ) The chronic significant left-to-right shunt can alter the pulmonary vascular resistance leading to pulmonary arterial HTN, even reversal of shunt and Eisenmenger syndrome.

SYMPTOMS AND SIGNS

Dyspnea easy fatigability palpitations sustained atrial arrhythmia syncope stroke heart failure The patient can have a hyperdynamic right ventricular impulse due to increased diastolic filling and large stroke volume

Palpable pulsation of the pulmonary artery and an ejection click S1 is typically split. S2 is often widely split and fixed. ASD with moderate-to-large left-to-right shunts result in increased RV stroke volume across the pulmonary outflow tract creating a crescendo-decrescendo systolic ejection murmur in the 2nd ICS at the upper LSE. Patients with large left-to-right shunts often have a rumbling middiastolic murmur at the lower LSE (increased flow across the tricuspid valve.) Pulmonary arterial HTN and RVH-RV S4 may be present. The midsystolic pulmonic murmur is softer and shorter, the tricuspid flow murmur is not present, the splitting of S2 is narrowed with accentuated pulmonic component, and murmur of pulmonic regurgitation may become apparent.

ECG

Secundum ASD -normal sinus rhythm, right-axis deviation, and an rSR' pattern in V1, an interventricular conduction delay or RBBB(which represents delayed posterobasal activation of the ventricular septum and enlargement of the right ventricular outflow tract). Ostium primum defect -Left-axis deviation and an rSR' pattern in V1, an interventricular conduction delay or RBBB. Sinus venosus defect-Left-axis deviation and negative P wave in lead III. Increasing pulmonary hypertension can cause loss of the rSR' pattern in V1 and a tall monophasic R wave with a deeply inverted T wave. A prolonged P-R interval can be seen in familial ASD or ostium primum secondary to LA enlargement and an increased distance for internodal conduction produced by the defect itself.

A 4 YEARS OLD CHILD WITH AN OSTIUM SECUNDUM TYPE ASD OF 7 MM IN DIAMETER. QRS AXIS IS NORMAL. SIGNS OF RVH ARE GENERALLY OBSERVED IN ADULT PATIENTS WITH ASD. RBBB (COMPLETE OR INCOMPLETE) IS THE MOST FREQUENT ECG SIGN OF ASD.

ECG OBTAINED FROM AN 11 YEAR OLD CHILD WITH A 23 MM DIAMETER SECUNDUM ASD. THE TRACING DEMONSTRATES RIGHT AXIS DEVIATION, INCOMPLETE RBBB, AND RVH.

CXR
Cardiomegaly because of dilatation of the RA&RV. The pulmonary artery is prominent, and pulmonary vascular markings are increased in the lung fields. LA enlargement is rare only if clinically significant mitral regurgitation. On occasion, proximal dilatation of the SVC can be seen in sinus venosus defect.

4-YEAR-OLD WITH 16 MM ASD SECUNDUM. AP CXR SHOWS MILD CARDIOMEGALY AND INCREASED PULMONARY BLOOD FLOW. LATERAL CXR SHOWS DILATED ANTERIOR RIGHT VENTRICLE.

APICAL 4-CHAMBER VIEW.

TRANSESOPHAGEAL ECHOCARDIOGRAM: MODERATE-LARGE ASD WITH LEFT-TO-RIGHT SHUNT ACROSS THE INTERATRIAL SEPTUM.

COMPLICATIONS OF ASD
Congestive heart failure Arrhythmias Pulmonary hypertension Cyanosis Paradoxical embolization Stroke Infective endocarditis

WHAT IS VSD?

VSD is a hole in the wall separating the two lower chambers of the heart.

SCHEMATIC
REPRESENTATION OF THE LOCATION OF VARIOUS TYPES OF VSDS FROM THE RIGHT VENTRICULAR ASPECT.

A = DOUBLY COMMITTED SUBARTERIAL VSD; B = PERIMEMBRANOUS VSD; C = INLET OR ATRIOVENTRICULAR CANAL TYPE VSD; D = MUSCULAR VSD

PERIMEMBRANOUS (INFRACRISTAL, CONOVENTRICULAR) VSDS

Lie in the LV outflow tract just below the aortic valve. Because they occur in the membranous septum with defects in the adjacent muscular portion of the septum, they are subclassified as: 1. perimembranous inlet 2. perimembranous outlet 3. perimembranous muscular These are the most common types of VSD and account for 80% of such defects. associated with pouches or aneurysms of the septal leaflet of the tricuspid valve, which can partially or completely close the defect.

SUPRACRISTAL (CONAL SEPTAL, INFUNDIBULAR, SUBPULMONIC, SUBARTERIAL, SUBARTERIAL DOUBLY COMMITTED, OUTLET) VSDS

These defects lie beneath the pulmonic valve and communicate with the RV outflow tract above the supraventricular crest and are associated with aortic regurgitation secondary to the prolapse of the right aortic cusp.

MUSCULAR VSDS (TRABECULAR)

entirely bounded by the muscular septum and are often multiple. The term Swiss-cheese septum has been used to describe multiple muscular VSDs. Other subclassifications depend on the location and include: 1. central muscular or midmuscular 2. apical 3. marginal (when the defect is along the RV-septal junction) These VSDs account for 5-20% of all defects. Any single defect observed from the LV aspect may have several openings on the RV aspect.

POSTERIOR (CANAL-TYPE, ENDOCARDIAL CUSHIONTYPE, AV SEPTUMTYPE, INLET, JUXTATRICUSPID) VSDS

lie posterior to the septal leaflet of the tricuspid valve. Although the locations of posterior VSDs are similar to those of VSDs observed with AV septal defects, they are not associated with defects of the AV valves. About 8-10% of VSDs are of this type.

SIGNS AND SYMPTOMS

excessive sweating as a consequence of increased sympathetic tone(especially notable during feeds). fatigue with feeding. lack of adequate growth Frequent respiratory infections secondary to the pulmonary congestion. Symptoms, which begin as pulmonary vascular resistance (PVR) decreases, may be clearly apparent by age 2-3 months. They tend to occur earlier in premature infants than in full-term infants because PVR decreases earlier in the former than in the latter. Eisenmenger syndrome, or VSD with severe pulmonary vascular disease-With exercise, symptoms include exertional dyspnea, cyanosis, chest pain, syncope, and hemoptysis.

Small VSDs-Patients may have normal vital signs. o Physiologic splitting of S2 is usually retained. o Harsh, holosystolic murmur is loudest along the lower LSB. o Small defects can produce a high-pitched or squeaky noise. o The murmur is usually detected after the PVR decreases at about 4-8 weeks of age. Moderate VSDs Infants often have a normal length and decreased weight. Poor weight gain is a sensitive indicator of CHF. Infants may have mild tachypnea, tachycardia, and an enlarged liver. The precordial activity is accentuated. The murmur usually associated with thrill. The intensity of the pulmonary component is usually normal or slightly increased. A diastolic rumble may be detected in the mitral area. This rumble suggests functional mitral stenosis secondary to a large left-to-right shunt.

Large VSDs signs of CHF ,the cardinal signs of heart failure include tachycardia, tachypnea, and hepatomegaly. The murmur is holosystolic but poorly localized and is usually associated with a diastolic rumble. A VSD is not typically associated with cyanosis: it is a pink condition. The occurrence of cyanosis after infancy suggests reversal of the shunt. Patients with large VSDs and marked elevations of PVR frequently appear well in childhood because the blood flow in their systemic and pulmonary circuits is well balanced.

ECG
LVH Combined ventricular hypertrophy is common. Katz-Wachtel phenomenon. Inlet defects may be associated with left-axis deviation of the frontal plane QRS with Q waves in leads I and aVL. In patients with large VSDs and equal ventricular pressures, RVH is demonstrated. In patients with large pulmonary blood flow, LAH is evidenced by biphasic P waves in leads I, aVR, and V6, with prominent negative deflection in V1.

THE KATZ-WACHTEL SIGN IS TALL DIPHASIC RS COMPLEXES AT LEAST 50 MM IN HEIGHT IN LEAD V2, V3 OR V4 MID PRECORDIAL LEADS

7-MONTH-OLD INFANT WITH LARGE MEMBRANOUS VSD. THE TRACING SHOWS RIGHT ATRIAL ENLARGEMENT (PEAKED P WAVES IN LEAD II), LEFT ATRIAL ENLARGEMENT (BIPHASIC P WAVES IN LEAD V3R), AND BIVENTRICULAR HYPERTROPHY.

CXR
Increased cardiac silhouette Increased pulmonary vascular markings Enlarged LA, which is visible on lateral radiographs RVH with the cardiac apex rotated slightly upward, to the left, and posteriorly Markedly prominent main PA and adjacent vessels Decreased pulmonary vascularity in the outer third of the lung fields in large VSD

4-MONTH-OLD INFANT WITH LARGE MEMBRANOUS VSD AND FAILURE TO THRIVE. AN AP CXR (LEFT PANEL) SHOWS SITUS SOLITUS, MODERATE CARDIOMEGALY, SYMMETRICALLY INCREASED PULMONARY BLOOD FLOW, HYPERINFLATION, AND A LEFT AORTIC ARCH (ARROW POINTS TO SLIGHT INDENTATION OF LEFT SIDE OF TRACHEA BY THE AORTIC ARCH).

ECHOCARDIOGRAM OF A CHILD WITH A PERIMEMBRANOUS VSD. NOTE THE DEFECT AT THE 10 O'CLOCK POSITION IN THE PARASTERNAL SHORT-AXIS VIEW.

APICAL 4-CHAMBER VIEWS. A: IMAGE SHOWS A LARGE INLET DEFECT. THE DEFECT IS POSTERIOR AND AT THE LEVEL OF THE AV VALVES. B: IMAGE SHOWS A SMALL MIDMUSCULAR VENTRICULAR SEPTAL DEFECT.

COMPLICATIONS OF VSD

Eisenmenger complex Secondary aortic insufficiency is associated with prolapse of aortic valve leaflets. Aortic regurgitation is due to a poorly supported right coronary cusp combined with the Venturi effect produced by the VSD jet, resulting in cusp prolapse. RVOTO Discrete fibrous subaortic stenosis is occasionally associated with a VSD Infective endocarditis is rare in children younger than 2 years. Embolization is expected despite the morphology of the vegetation. In general, vegetation more than 10 mm, particularly if pedunculated, should be regarded as an indication for surgical intervention, even in the absence of symptoms. Infection is usually located at the ridge of the VSD itself or on the tricuspid leaflet.

Small: no treatment; high rate of spontaneous closure SBE prophylaxis yearly follow up for aortic valve prolapse, regurgitation surgical closure indicated if prolapsed aortic valve Moderate: anti-failure therapy if heart failure surgical closure if: -heart failure not controlled by medical therapy -persistent cardiomegaly on CXR -elevated pulmonary arterial pressure -aottic valve prolapse or regurgitation Large: early primary surgical closure pulmonary artery banding followed by VSD closure in multiple VSDs

WHAT IS PDA?
An unclosed hole in the aorta. The duct connects the aorta and pulmonary trunk.

A BALANCE OF FACTORS THAT CAUSE RELAXATION

AND CONTRACTION DETERMINE THE VASCULAR TONE OF THE DUCTUS.
Major factors causing relaxation are: the high prostaglandin levels hypoxemia nitric oxide production in the ductus Factors resulting in contraction include decreased prostaglandin levels increased PO2 increased endothelin-1, norepinephrine, acetylcholine, bradykinin decreased PGE receptors Increased prostaglandin sensitivity, in conjunction with pulmonary immaturity leading to hypoxia, contributes to the increased frequency of PDA in premature neonates.

SIGNS AND SYMPTOMS

tachypnea diaphoresis inability or difficulty with feeding weight loss or no weight gain hoarse cry cough lower respiratory tract infections atelectasis pneumonia failure to thrive (FTT) However, frank symptoms of congestive heart failure (CHF) are rare.

bounding pulses precordial activity is increased The apical impulse is laterally displaced; a thrill may be present in the suprasternal notch or in the left infraclavicular region S1 is typically normal, and S2 is often obscured by the murmur; paradoxical splitting of S2 related to premature closure of the pulmonary valve and a prolonged ejection period across the aortic valve machinery murmur, which is continuous. The murmur may be accentuated in systole,loudest at the left upper chest. The murmur may be only a systolic ejection murmur, or it may be a crescendo/decrescendo systolic murmur that extends into diastole

3-month-old infant with large (5 mm) PDA ;The tracing shows LAH(biphasic P wave V1) and LVH (27 mm R wave V6).
In significant pulmonary HTN RVH In the neonate, especially premature with a large PDA), Twave inversion and ST segment depression may be present, suggesting ischemia or a supply-demand mismatch.

CXR
Cardiomegaly may be present with or without CHF. pulmonary arteries, pulmonary veins, LA&LV are enlarged ascending aorta may be prominent. pulmonary edema Accentuated peripheral pulmonary vascular markings and increased pulmonary venous markings may be noted. In elderly individuals, the PDA may calcify and may be visible on a standard radiograph.

3-MONTH-OLD WITH LARGE 5 MM PDA AND ONE-HALF SYSTEMIC LEVEL PULMONARY ARTERY PRESSURE. THERE IS CARDIOMEGALY, ENLARGEMENT OF THE LEFT VENTRICLE (SEEN ON THE LATERAL VIEW), INCREASED PULMONARY ARTERY FLOW, AND HYPERINFLATION. THERE IS AN OVERLYING THYMIC SHADOW.

MANAGEMENT AND TREATMENT

Small: no treatment if there is no murmur if murmur present: elective closure as risk of endarteritis. Moderate to large PDA: anti-failure therapy if heart failure timing, method of closure (surgical vs transcatheter) depends on symptom severity, size of PDA and body weight IV indomethacin (or the newer preparation of IV ibuprofen) is frequently effective in closing a PDA if it is administered in the first 10-14 days of life. Cardiac cathetherization: Gianturco spring occluding coils Amplatzer duct occluder Rashkind ductus occlusion device

WHAT IS AVSD?
A large hole in center of the heart affecting all four chambers where they would normally be divided. A CAVCD allows blood to mix and the chambers and valves to not properly route the blood to each station of circulation.

SIGNS AND SYMPTOMS

Tachypnea, retractions, and diaphoresis, especially during and immediately after feeding. Poor caloric intake and excessive metabolic demands lead to growth failure. Older children and adolescents with severe MR may display a prominent left chest as well as a slim (asthenic) build. Fine rales or rhonchi, or both, may be heard in the lung fields of older patients with severe MR but are rare in infants. A prominent impulse along the RSB, consistent with RV lift, may be present. Severe MR can cause a prominent apical impulse or thrill. The classic auscultatory finding associated with an ASD. A large AVSD with substantial left-to-right shunting creates a middiastolic rumbling murmur, audible along the lower LSE,often occurs in assoc with a prominent S3. (attributed to an abnormally high flow across the tricuspid component of the AV valve.

The apical murmur of MR occurs even with a small cleft in the AV valve. This murmur has a blowing quality and must be differentiated from the murmur caused by a VSD. However, when it occurs with a fixed split S2, this murmur is helpful in differentiating a partial AVSD from a secundum ASD. Severe MR can also cause a diastolic murmur audible over the apical area, which, in association with the systolic murmur, produces a to-and-fro quality.

Partial AVSD(ASD primum): elective surgical repair at 4 to 5 years old; earlier if symptomatic or severe AV valve regurgitation
Complete AVSD: primary surgical repair < 6 months age to prevent pulmonary vascular disease In selected patients - e.g. with severe AV valve regurgitation and older ppl, conservative treatment is an option as surgical outcomes are poor

OBSTRUCTIVE LESIONS

WHAT IS PS?
A thickened or fused heart valve that does not fully open. TYPES: 1. Isolated valvular PS comprises approximately 10% of all CHD. 2. Subvalvular pulmonic stenosis 3. Peripheral pulmonary stenosis (PPS)

SYMPTOMS AND SIGNS

exertional dyspnea and fatigue. In extremely rare cases, exertional angina, syncope, or sudden death. Peripheral edema and other typical symptoms occur with right heart failure. Cyanosis is present in those with significant right-to-left shunt via a PFO,ASD,VSD. A precordial heave or a palpable impulse from the RV along the left parasternal border may suggest severe PS. In the upper LSE, a systolic thrill may be palpable at the level of the 2nd ICS. In valvular PS, auscultation reveals a normal S1 and a widely split S2, with a soft and delayed P2. Valvular PS typically causes a systolic crescendo-decrescendo ejection murmur in the upper LSB that increases with inspiration and radiates diffusely.

In patients with pliable valve leaflets, a systolic ejection click may precede the murmur, distinguished from aortic ejection sounds by its increased intensity on expiration and softening on inspiration. As the severity of PS increases, the ejection murmur increases in intensity, its duration prolongs, and its peak becomes more delayed. No ejection click is heard when dysplasia or severe leaflet thickening immobilizes the valve leaflets, or if the stenosis is above or below the pulmonic valve. The murmur of PPS may be continuous, softer, and higher pitched. Mild-to-moderately severe desaturation or frank cyanosis may be noted with right-to-left shunting.

ECG RVH Right-axis deviation. With moderately severe PS, increased R-wave amplitude in V1 are seen. Severe PS is associated with extreme right-axis deviation, a dominant R wave in AVR, and a prominent R wave (>20 mm) in V1. CXR Prominence of the main, right, or left pulmonary arteries caused by poststenotic dilatation. The intrapulmonary vasculature usually appears normal, even in severe PS. In critical PS, the pulmonary vasculature may appear decreased if significant right-to-left shunting occurs or if severe unilateral pulmonary artery branch obstruction is present. The overall heart size usually is normal unless RV failure or tricuspid regurgitation develops. A prominent right heart border suggesting RAH may be present in as many as 50% of affected individuals.

6-WEEK-OLD INFANT WITH SEVERE VALVAR PS. THE TRACING SHOWS RIGHT AXIS DEVIATION, RVH, AND RIGHT VENTRICULAR STRAIN (FLAT OR UPRIGHT T WAVES IN THE ANTERIOR PRECORDIAL LEADS).

3-DAY-OLD 2.7 KG NEONATE

WITH SEVERE VALVAR PS AND SUPRASYSTEMIC RIGHT VENTRICULAR SYSTOLIC PRESSURE. DECREASED PULMONARY VASCULAR MARKINGS AND NORMAL HEART SIZE.

THERE IS NO SIGNIFICANT POST-STENOTIC DILATATION

OF THE MAIN PULMONARY
ARTERY AS OCCASIONALLY IS PRESENT IN THIS CONDITION.

SEVERE PULMONIC STENOSIS.

THIS IMAGE SHOWS A PARASTERNAL SHORT AXIS VIEW OF THE THICKENED PULMONARY VALVE.

Mild: (peak systolic gradient < 50 mmHg)- no treatment

Moderate-severe: (gradient > 50 mmHg) - transcatheter balloon valvuloplasty is treatment of choice Neonatal critical PS-: characterized with cyanosis and RV dysfunction temporary stabilization with IV Prostaglandin E infusion early transcatheter balloon valvuloplasty
SBE prophylaxis is indicated in all cases

COARCTATION OF THE AORTA

Coarctation of the aorta accounts for 5%10% of CHD and is usually sporadic. (increased frequency among Turner syndrome, 20%36%.) Produced by a deformity of the aortic media and intimaprominent posterior infolding of the aortic lumen. Characteristically occurs at or near the junction of the aortic arch and the descending thoracic aorta. Infolding may extend laterally and cause eccentric narrowing of the lumen at the level where the ductus or ligamentum arteriosus inserts anteromedially. Luminal narrowing obstructs the flow of blood from the LV.

TUBULAR HYPOPLASIA (PREDUCTAL OR INFANTILE-TYPE AORTIC COARCTATION).

Usually is associated with an intracardiac defect, especially a deformed or bicuspid aortic valve. Focal constriction of the aorta (1) above the level of the ductus arteriosus (2) and a lengthy narrowed segment of the aortic arch( (3) after the origin of the innominate artery (4).

5 = left common carotid artery, 6 = left subclavian artery, 7 = right heart structures, 8 = left heart structures, 9 = pulmonary artery.

LOCALIZED (POSTDUCTAL OR ADULT-TYPE) AORTIC COARCTATION.

Focal constriction of the aorta (1) just beyond the origin of the left subclavian artery (2) and the ligamentum arteriosum (3). The contour of the aorta is deformed by both pre- and poststenotic dilatation, and the left subclavian artery is dilated. 4 = left common carotid artery, 5 = innominate artery, 6 = right heart structures, 7 = left heart structures, 8 = pulmonary artery.

An elaborate system of collateral vessels (including collateral internal mammary, intercostal, and superior epigastric arteries) forms to bypass the coarctation. The dilated and tortuous intercostal vessels form deep grooves on the undersurfaces of the ribs (a process known as rib notching)usually the 3rd/4th through the 8th ribs. The pulmonary flow is normal unless left ventricular decompensation has occurred.

SYMPTOMS AND SIGNS

Poor feeding, tachypnea, and lethargy Progress to overt CHF and shock Hypertension or a murmur Headaches, chest pain, fatigue, or even lifethreatening ICB. True claudication is rare, although an occasional child may experience pain or weakness in the legs. BP discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. Prominent brachial pulses with weak or nonpalpable femoral arterial pulses Radiofemoral delay

Differential cyanosis Occasionally, the left arm pressure is lower than the right arm pressure if the origin of the left subclavian artery is involved in the coarctation. Blood pressure in both arms and one leg must be determined; a pressure difference of more than 20 mm Hg in favor of the arms may be considered evidence of coarctation of the aorta. A thrill may be present in the suprasternal notch or on the precordium in the presence of significant aortic valve stenosis. Nonspecific yet there is usually a midsystolic murmur in the left infraclavicular area and under the left scapula. An ejection click may signify the presence of a bicuspid aortic valve, whereas a gallop rhythm may indicate ventricular dysfunction.

ECG
ECG in the neonate or infant with early onset of COA may reveal RVH rather than LVH. ECG findings in patients with late onset of coarctation of the aorta may be normal or may reveal LVH and may show signs of LV ischemia or strain. Sometimes, LVH may manifest as increased S waves in leads V5 and V6, the so-called posterobasal LVH. Preductal and postductal pulse oximetry readings may show evidence of ductal right-to-left shunting, especially in the neonate.

16-DAY-OLD INFANT WITH SEVERE COARCTATION AND BIVENTRICULAR DYSFUNCTION. THE TRACING SHOWS SINUS TACHYCARDIA BUT IS OTHERWISE
NORMAL FOR AGE WITH RIGHT AXIS DEVIATION AND RIGHT VENTRICULAR PREDOMINANCE.

CXR
Two classic radiologic signs associated with aortic coarctation are the: figure-of-three sign -This sign is seen in 50%66% of adults with aortic coarctation. reverse figure-of-three sign- mirror image of the number 3, is observed on the left anterior oblique view during barium esophagography in patients with aortic coarctation. Radiography in patients with early onset of coarctation of the aorta may reveal cardiomegaly, pulmonary edema, and other signs of congestive heart failure (CHF).

AORTIC COARCTATION WITH ASSOCIATED RIB NOTCHING. CXR IN A YOUNG MAN WITH HYPERTENSION SHOW THE FIGURE-OF-THREE SIGN (PRESTENOTIC AND POSTSTENOTIC DILATATION OF THE AORTA, WITH AN INTERVENING INDENTATION AT THE SITE OF COARCTATION) AND WITH BILATERAL RIB NOTCHING CAUSED BY PRESSURE FROM INTERCOSTAL BLOOD VESSELS.

LEFT ANTERIOR OBLIQUE VIEW OF THE CHEST, OBTAINED WITH BARIUM ESOPHAGOGRAPHY , SHOWS AN INDENTATION IN THE ESOPHAGEAL CONTOUR BECAUSE OF PRESSURE FROM THE COARCTATED AORTA.

AORTIC COARCTATION VISUALIZED BY AORTIC ANGIOGRAPHY.

TREATMENT
Neonatal severe CoA frequently associated with large malaligned VSD and intractable heart failure sick infants require temporary stabilization -mechanical ventilation -correction of metabolic acidosis, hypoglycaemia, electrolyte imbalances -IV Prostaglandin E infusion early surgical repair (single-stage CoA repair + VSD closure or 2 stage CoA repair followed by VSD closure at later date)

ASYMPTOMATIC WITH DISCRETE

/ OLDER CHILDREN COA

presents with incidental hypertension or heart murmur choice of treatment (primary transcatheter balloon angioplasty, stent implantation or surgical repair) depends on morphology of CoA and age of presentation

CYANOTIC HEART DISEASES

TETRALOGY OF

FALLOT

The 4 established components of TOF, which was first described in 1888 by French physician Etienne-Louis Arthur Fallot, include: (a) ventricular septal defect (b) infundibular pulmonary stenosis (c) overriding aorta- The aorta sits above both the left and right ventricles over the VSD, rather than just over the left ventricle. As a result, oxygen poor blood from the right ventricle can flow directly into the aorta instead of into the pulmonary artery to the lungs. (d) right ventricular hypertrophy. The current understanding of the embryologic origin of this syndrome is that it results from a single defect, an anterior malalignment of the conal septum VSD, right ventricular outflow tract obstruction, and overriding aorta. RVH typically develops in long-standing untreated disease.

Tetralogy of Fallot accounts for 10%11% of cases of CHD.

On CXR, the heart has the shape of a wooden shoe or boot (in French, coeur en sabot) . This deformity is due to uplifting of the cardiac apex because of RVH and concavity of the main pulmonary artery. The shadow of the pulmonary arterial trunk is almost invariably absent, and blood flow to the lungs is usually reduced.

VSD (1) infundibular pulmonary stenosis (2) overriding aorta (3) RVH (4)

The oxygen-rich blood in the left side (5) mixes with oxygen-poor blood in the right side of the heart (6) before it proceeds to the aorta (7). The right ventricular infundibulum often forms a slight bulge in the upper left heart border, while the middle left heart border is usually concave. Approximately 25% of those affected have a right-sided aortic arch . Overall, the most common radiologic finding is an upturned cardiac apex, and the more severe the obstruction of the RVOT, the more pronounced that deformity.

SYMPTOMS AND SIGNS

Smaller than expected for age. Cyanosis of the lips and nail bed is usually pronounced at birth After age 3-6 months, the fingers and toes show clubbing. A systolic thrill is usually present anteriorly along the LSB. A harsh systolic ejection murmur (SEM) is heard over the pulmonic area and LSB. When the RVOTO (eg, from pulmonary atresia) is moderate, the murmur may be inaudible (more cyanotic patients have greater obstruction and a softer murmur). The S2 is usually single (the pulmonic valve closure is not heard). During cyanotic episodes, murmurs may disappear, which is suggestive of lessened RV outflow to the pulmonary arteries. In individuals with aortopulmonary collaterals, continuous murmurs may be auscultated. Thus, an acyanotic patient with TOF (pink tet) has a long, loud, systolic murmur with a thrill along the RVOT.

The following may also be noted: RV predominance on palpation May have a bulging left hemithorax Aortic ejection click Squatting position (compensatory mechanism) Scoliosis (common) Retinal engorgement Hemoptysis

reactive polycythemia in proportion to the degree of cyanosis. The oxygen saturation varies from 65-70%. Decreased clotting factors and low platelet count bleeding. Hyperviscosity and coagulopathy often ensue and are particularly deleterious in patients with a rightto-left intracardiac shunt. The usual findings are diminished coagulation factors/total fibrinogen, which are associated with prolonged prothrombin and coagulation times. Stroke and brain abscess are natural corollaries caused by paradoxical blood flow. ABG show varying oxygen saturation, but pH and pCO2 are normal, unless the patient is in extremis, such as during a tet spell.

ECG
Right axis deviation (+120 to +150) with RV enlargement may be seen. Combined ventricular hypertrophy and RAH may be present. Partial or complete RBBB may be present; this is especially true of patients after surgical repair.

TYPICAL PREOPERATIVE ECG FOR TOF. ELECTROCARDIOGRAM OBTAINED IN A 3.5MONTH-OLD INFANT WITH UNREPAIRED TETRALOGY OF FALLOT. THE TRACING SHOWS RIGHT AXIS DEVIATION AND RIGHT VENTRICULAR HYPERTROPHY (TALL R WAVES IN THE ANTERIOR CHEST LEADS).

8.5-MONTH-OLD INFANT, 5 MONTHS AFTER SURGICAL REPAIR OF TOF. THE TRACING SHOWS COMPLETE RBBB CREATED BY RESECTION OF RIGHT VENTRICULAR MUSCULAR OBSTRUCTION. THIS IS THE SAME INFANT FROM WHOM THE PRE-REPAIR ELECTROCARDIOGRAM WAS OBTAINED.

UPLIFTED APEX AND ABSENCE OF PULMONARY ARTERY SEGMENT TYPIFIES THE "COEUR EN SABOT" (IE, BOOTSHAPED HEART) OF TOF.

CXR OBTAINED IN AN INFANT WITH A RIGHT-SIDED AORTIC ARCH SHOWS THE CHARACTERISTIC BOOT-SHAPED SIGN PRODUCED BY UPTURNING OF
THE CARDIAC APEX BECAUSE OF RVH AND BY THE CONCAVITY OF THE MAIN PULMONARY ARTERY.

An opening in the right ventricle exposes ventricular septal defect

Interrupted pledgetted sutures are used to close a ventricular septal defect.

This image shows a closed ventricular septal defect and closure of right ventriculotomy with GoreTex.

Gore-Tex is used for complete closure of right ventriculotomy

Most TOFs suitable for single stage surgical repair at 1 to 2 years age Indications for modified Blalock Taussig shunt: - hypercyanotic spells or severe cyanosis < 6 months age when child is too young for total repair - small pulmonary arteries; to promote growth before definitive repair - anomalous coronary artery crossing in front of RVOT- precludes transannular incision; repair with conduit required at later age following surgical repair, patients need life-long follow up for late right ventricular dysfunction; some may require pulmonary valve replacement

Right ventricular obstruction is relieved first with resection of obstructive muscle. The VSD is then closed with interrupted sutures. Pulmonary arterioplasty/pulmonary valvotomy is performed next, depending upon the individual needs of the patient. The integrity of the pulmonary valve annulus is spared whenever possible to maintain pulmonary valve competence. A transannular patch is often required in order to adequately relieve RVOTO.

HYPERCYANOTIC SPELLS

Sudden severe episodes of intense cyanosis caused by reduction of pulmonary flow in patients with underlying TOF or other cyanotic heart lesions. This is due to spasm of RVOT or reduction in SVR (e.g. hypovolaemia) with resulting increased in right to left shunt across the VSD. peak incidence age: 3 to 6 months often in the morning, can be precipitated by crying, feeding or defaecation severe cyanosis, hyperpnoea, metabolic acidosis in severe cases, may lead to syncope, seizure, stroke or death there is a reduced intensity of systolic murmur during spell

TREAT THIS AS A MEDICAL EMERGENCY

knee-chest/squating position: - place the baby on the mothers shoulder with the knees tucked up underneath. - this provides a calming effect, reduces systemic venous return and increases SVR administer 100% oxygen give IV/IM/SC morphine 0.1 0.2 mg/kg to reduce distress and hyperpnoea

If above measures fail: give IV Propranolol 0.05 0.1 mg/kg slow bolus over 10 mins alternatively, IV Esmolol 0.5 mg/kg slow bolus over 1 min, followed by 0.05 mg/kg/min for 4 mins. - can be given as continuous IV infusion at 0.01 0.02 mg/kg/min. -Esmolol is an ultra short acting beta blocker volume expander (crystalloid or colloid) 20 ml/kg rapid IV push to increase preload give IV sodium bicarbonate 1 mEq/kg to correct metabolic acidosis heavy sedation, intubation and mechanical ventilation

In resistant cases, consider IV Phenylephrine / Noradrenaline infusion to increase SVR and reduce right to left shunt emergency Blalock Taussig shunt Other notes: a single episode of hypercyanotic spell is an indication for early surgical referral (either total repair or Blalock Taussig shunt). oral propranolol 0.2 1 mg/kg/dose 8 to 12 hourly should be started soon after stabilization while waiting for surgical intervention.

TRANSPOSITION OF THE GREAT ARTERIES

Produced by a ventriculoarterial discordance in which the aorta arises from the RV and the pulmonary artery arises from LV. The volume of the pulmonary flow may be normal in the first few days after birth, but it increases with closure of the ductus arteriosus.In the presence of a large communication, the vessels are usually prominent. A large communication enlargement of the heart unless the shunt is balanced or impeded by an obstruction of the pulmonary artery.

Normal anatomy-aorta is anterior to and at the right of the pulmonary artery.

TGA- pulmonary artery is situated to the right of its normal location and is obscured by the aorta on frontal CXR. -The right atrial border is abnormally convex, and the left atrium commonly is enlarged because of increased pulmonary blood flow. -This malposition, in association with stress-induced thymic atrophy and hyperinflated lungsapparent narrowing of the superior mediastinum , the most consistent sign of TGA.

The cardiovascular silhouette varies from normal in the first few days after birth to enlarged and globular, (described as an egg on a string.)

THE PRIMARY ANATOMIC SUBTYPES ARE:

(1) TGA with intact ventricular septum, (2) TGA with VSD (3) TGA with VSD and LVOTO (4) TGA with VSD and pulmonary vascular obstructive disease. The pulmonary and systemic circulations function in parallel, rather than in seriesdeficient oxygen supply to the tissues and an excessive RV&LV workload. It is incompatible with prolonged survival unless mixing of oxygenated and deoxygenated blood occurs at some anatomic level.

TGA with INTACT VENTRICULAR SEPTUM

Prominent and progressive cyanosis within the first 24 hrs of life usually.

TGA with VSD

Signs of CHF(tachypnea, tachycardia, diaphoresis, and failure to gain weight) may become evident over the first 3-6 weeks as pulmonary blood flow increases. Increased RV impulse prominent grade 3-4/6 holosystolic murmur S3 mid-diastolic rumble gallop rhythm Hepatomegaly may be present.

TGA WITH VSD AND LVOTO

Cyanosis is prominent at birth, and the findings are similar to those of infants with TOF. A single, or narrowly split, diminished S2 grade 2-3/6 systolic ejection murmur may be present. Hepatomegaly is rare.

TGA WITH VSD AND PULMONARY VASCULAR OBSTRUCTIVE DISEASE.

Progressive obstruction is not always evident. Cyanosis is usually present and can progress despite palliative therapy in the newborn period. No murmur (despite VSD) or early short systolic ejection sounds are heard. The S2 is often single, with increased intensity. In later childhood or adolescence, a high-pitched, blowing, early decrescendo diastolic murmur of pulmonary insufficiency and a blowing apical murmur of mitral insufficiency are evident.

The aorta (1) arises from the RV(2), and the pulmonary artery (3) arises from the LV(4). Communicationan ASD(5)and VSD (6), or bothsustains life by allowing oxygenated blood from the LA(7) to mix with deoxygenated blood from the RA(8) before it flows via the RV aorta and via the LVpulmonary artery.

CXR OBTAINED IN A NEONATE

SHOWS THE NORMAL APPEARANCE OF THE MEDIASTINUM, WITH A NORMAL THYMIC SHADOW.

Narrowing of the superior mediastinum, enlargement of the cardiac silhouette with abnormal convexity of the RA border, and increased vascular flow.

SIMPLE TGA:(INTACT VENTRICULAR SEPTUM)

IV Prostaglandin E infusion promotes intercirculatory mixing at PDA - early balloon atrial septostomy (BAS) if restrictive interatrial communication - surgical repair of choice: arterial switch operation at 2 to 4 weeks age - left ventricular regression may occur if repair not performed within 4 weeks of life

TGA WITH VSD:

do not usually require intervention during early neonatal period; may develop heart failure at 1 to 2 months age - elective one-stage arterial switch operation + VSD closure before 3 months age

TGA with VSD and PS:

Blalock Taussig shunt during infancy followed by Rastelli repair at 4 to 6 years age

Following aortic cross clamping, the ascending aorta and main pulmonary artery are transected. The left and right coronary artery ostia are visualized and excised from the aortic root with adjacent aortic wall as "buttons". The coronary artery buttons are then shifted posteriorly and implanted into the facing sinuses of the main pulmonary artery root. Next, the distal pulmonary artery and its branches are brought forward (LeCompte maneuver), and the distal aorta is moved posteriorly. The distal aorta is now anastomosed to the "new" aortic root. Reconstruction of the pulmonary artery is undertaken next, utilizing a patch of cryopreserved pulmonary artery homograft. Closure of the ASD completes the arterial switch repair.

Cardiopulmonary bypass and aortic cross-clamping. The VSD is visualized through a right ventriculotomy. Obstructive right ventricular muscle is excised, and a large intra-ventricular baffle is sutured into place closing the VSD and redirecting left ventricular outflow to the more anteriorly placed aortic valve. A valved homograft conduit is utilized to achieve right ventricular to pulmonary artery continuity. Transesophageal ECHO is utilized to help assess adequacy of repair.

TOTAL ANOMALOUS PULMONARY VENOUS RETURN (TAPVR)

TAPVR occurs when the pulmonary veins fail to drain into the left atrium and instead form an aberrant connection with some other cardiovascular structure. Such abnormalities account for approximately 2% of cardiac malformations.

1.

2.

3.

4.

Supracardiac TAPVR: The pulmonary veins drain RA through the SVC. Cardiac TAPVR: (30%)There are two types: The pulmonary veins can directly enter into the RA. Or the pulmonary veins can drain into the coronary sinus, a vein which usually only carries blood coming out of the heart muscle. Infracardiac TAPVR: The pulmonary veins liver (hepatic) veins and the IVC RA Mixed TAPVR: The pulmonary veins split up and drain partially to more than one of these options.

SUPRACARDIAC TAPVR
In type I, the most common of the four (55% of cases), this anomaly resembles a snowman/ figure-of-eight sign : The dilated vertical vein on the left, the innominate vein on the top, and the SVC on the right form the head of the snowman; The body of the snowman is formed by the enlarged RA.

Less commonly, anomalous drainage to the left brachiocephalic vein, the right SVC, or the azygos vein occurs. Venous obstruction is uncommon, but extrinsic obstruction may occur if the vertical vein courses between the left pulmonary artery anteriorly and the left main bronchus posteriorly.

DRAWING SHOWS THE RETURN FLOW OF VENOUS BLOOD (ARROWS).

Instead of draining into the LA(1), the pulmonary veins (2, 3) converge behind the heart to form a common pulmonary vein (4) that connects to the vertical vein (5), which joins the left innominate vein (6). The left innominate vein drains into the SVC(7). Since all of the systemic and pulmonary venous blood enters the right heart, survival is maintained by a right-to-left shunt through a communication at the level of the atrial septum (8). 9 = RA, 10 = RV, 11 = LV

CLASSIC SNOWMAN SIGN, SOMETIMES REFERRED TO AS A FIGURE-OF-EIGHT SIGN.

FRONTAL VIEW OBTAINED WITH

ANGIOCARDIOGRAPHY

Aberrant cardiovascular anatomy: The upper left heart is bordered by the vertical vein; the superior part of the heart, by the left innominate vein; and the upper part of the right heart, by the dilated SVC.

INFRACARDIAC TAPVR
Type III TAPVR (13% of cases) involves a connection at the infracardiac or infradiaphragmatic level. The pulmonary veins join behind the LA to form a common vertical descending vein, which courses anterior to the esophagus and passes through the diaphragm at the esophageal hiatus. This vertical vein usually joins the portal venous system but occasionally connects directly to the ductus venosus, the hepatic veins, or the IVC.

Type III TAPVR is virtually always accompanied by some degree of obstructed venous returncyanosis, often, early and severe CHF. In addition, lymphangiectasia sometimes results from the obstruction of venous return through the vein that extends below the diaphragm. The heart size is usually normal, but there is severe interstitial pulmonary edema, thymic atrophy, and depression of the diaphragm.

All the systemic venous and pulmonary venous blood enters the right heart, and the only path for its exit to the left heart is a communication in the atrial septum, usually a large ASD or PFO. This right-to-left shunt is essential for survival. The right heart is prominent in TAPVR because of the increased flow volume, but the LA remains normal in size. Cyanosis and CHF typically develop in the early neonatal period. Approx. 1/3 of those with TAPVR also have other associated cardiac lesions; many have heterotaxy syndrome, particularly asplenia.

PATIENTS WITH OBSTRUCTION

Develop symptoms early, usually at age 24-36 hours, including tachypnea, tachycardia, and cyanosis. Signs of pulmonary HTN progress with decreasing pulmonary blood flow and worsening cyanosis. Cardiac impulse is prominent anteriorly, but, usually, the heart is not clinically enlarged. The pulmonary component of the S2 is increased, and a gallop may be present. A murmur usually is not present, yet a systolic murmur over the pulmonary area or a tricuspid insufficiency murmur at the mid and lower left sternal border may be observed. Peripheral pulses are usually normal after birth but may decrease as heart failure progresses. Liver enlargement commonly occurs, especially in TAPVC type III.

PATIENTS WITH UNOBSTRUCTED PULMONARY

VENOUS FLOW Mild failure to thrive Greater respiratory effort than normal with activity Recurrent respiratory infections may be present. Increase in right ventricular impulse a wide split-S2 (usually with normal-intensity pulmonary closure), and pulmonary outflow murmur with or without a tricuspid diastolic murmur. Cyanosis infrequently occurs in the first year of life.

ECG reveals significant RVH, usually with a qR pattern in the right chest leads by age 5-7 days. Right atrial enlargement rarely occurs in these younger patients. CXR Significant cardiac enlargement In pulmonary venous obstruction, normal heart size with a diffuse reticular pattern fanning out from the hilum is seen. When the pulmonary veins are unobstructed, the heart is enlarged (RAH,RVH), and pulmonary markings reveal active increase in size of the pulmonary hilar and midzone vessels.

MANAGEMENT STRATEGY DEPENDS ON PRESENCE OF PULMONARY VENOUS OBSTRUCTION: Obstructed pulmonary venous drainage (frequent in infracardiac type)-presents with respiratory distress and heart failure initial stabilization: oxygen, diuretics, PPV surgical repair immediately after stabilization Unobstructed pulmonary venous drainage - early surgical repair is required

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