Congenital Heart Disease
CHD refers to structural heart defects that are
present at birth.
CHD accounts for nearly one-third of all major
The prevalence of CHD in infancy is estimated at
6-8 per 1000 live births
25% are life threatening & require early
Febrile illness in first trimester
Acyanotic heart disease
An acyanotic heart defect, also known as non-
cyanotic heart defect, is a class of congenital
In these, blood is shunted from the left side of
the heart to the right side of the heart due to a
structural defect in the septum.
Ventricular Septal Defect
VSD is a
of the interventricular
between the cavities of
the two ventricles is
A defect in the interventricular septum allows
communication between the systemic &
As a result, flow moves from a region of high
pressure to a region of low pressure—i.e. from
the L-to-R shunt.
Mild or no symptoms.
Murmur is detected during routine examination.
Feeding or weight gain usually is not affected.
Excessive sweating, especially notable during
Fatigue with feeding
Lack of adequate growth
Frequent respiratory infections
Symptoms & signs are similar to, but more severe
Poor weight gain & frequent respiratory infections
At rest, patients may have no symptoms with mild
With exercise, symptoms include exertional
dyspnea, cyanosis, chest pain, syncope, &
Chest radiography may reveal the size of VSDs,
heart size, pulmonary vascularity.
To determine the size & location of virtually all
Doppler echocardiography provides additional
physiologic information (eg, RV pressure, PA
pressure & interventricular pressure difference).
Magnetic Resonance Imaging
Infrequently required for the diagnosis of VSDs.
As a rule, it is employed only when USG is not
feasible or when USG findings are not diagnostic.
With moderate-sized VSDs & with moderate or large
left-to-right shunts with volume overload in the LV,
LV hypertrophy is the rule.
In patients with large VSDs & equal ventricular
pressures, RV hypertrophy is demonstrated as a
dominant R wave in the right precordial leads &
upright T waves in younger patients.
Medical Management of Symptomatic CHF
Increased caloric density.
Diuretics – Furosemide (1-3 mg/kg/d divided in 2
or 3 doses)
ACE inhibitors (eg, captopril & enalapril)
Intracardiac Repair of Defect
Direct surgical repair using cardiopulmonary bypass
PA banding, part of a 2-stage procedure, is largely
reserved for critically ill infants with multiple VSDs or
for those with associated anomalies.
Reported complications have included aortic &
tricuspid regurgitation, device embolization, complete
heart block, transient left bundle-branch block
(LBBB), hemolysis, small residual shunts, &
Arterial Septal Defect
Defect in the inter atrial septum
Allowing pulmonary venous
return from the left atrium to pass
directly to the right atrium.
Ostium secundum ASD: This type of ASD results
from incomplete adhesion between the flap valve
associated with the foramen ovale & the septum
secundum after birth.
Ostium primum ASD: These defects are caused
by incomplete fusion of septum primum with the
endocardial cushion. The defect lies immediately
adjacent to the atrioventricular (AV) valves, either of
which may be deformed & incompetent.
Sinus venosus ASD: Abnormal fusion between the
embryologic sinus venosus & the atrium causes
these defects. In most cases, the defect lies superior
in the atrial septum near the entry of superior vena
Coronary sinus ASD: The coronary sinus defect is
characterized by unroofed coronary sinus &
persistent left superior vena cava that drains into the
left atrium. A dilated coronary sinus often suggests
Palpable pulsation of the Pulmonary Artery
Ejection click can be detected because of a dilated
S1 is typically split
S2 is often widely split & fixed
Murmur is heard in the 2nd ICS at the upper left
Patients with large left-to-right shunts often have a
rumbling middiastolic murmur at the lower left
In patients with an ostium primum defect & an
associated cleft of the mitral valve, an apical
systolic regurgitant murmur of mitral regurgitation
may be present.
In the rare case of severe pulmonary arterial
hypertension, atrial shunt reversal (Eisenmenger
syndrome) may occur, leading to cyanosis &
Routine laboratory studies
Complete blood cell (CBC) count, Type & screen,
Metabolic profile or chemistry panel, Coagulation
studies (prothrombin time [PT] & activated partial
thromboplastin time [aPTT])
Show cardiomegaly because of dilatation of the
right atrium & right ventricular chamber.
The pulmonary artery is prominent
Pulmonary vascular markings are increased in the
An uncertain diagnosis can be clarified with
transthoracic 2-D echocardiography, which
provides direct noninvasive visualization of most
types of ASDs including evaluation of the RA, RV &
PA as well as other associated abnormalities.
A major advantage of MRI is the ability to quantify
RV size, volume & function along with the ability to
identify the systemic & pulmonary venous return.
Characteristic findings in patients with secundum
ASD are a normal sinus rhythm, right-axis
deviation, an interventricular conduction delay or
right bundle branch block.
May be useful if the clinical data are inconsistent, if
clinically significant pulmonary arterial
hypertension is suspected, or if concurrent
coronary artery disease must be assessed in
patients older than 40 years.
Catheterization is also a viable alternative for
intervention for secundum ASD.
Direct closure of the defect by using an open
approach with extracorporeal support.
Minimally invasive approaches
Size of the incision is simply decreased with
different approaches to cardiopulmonary bypass.
Examples include partial or full submammary skin
incision, hemisternotomy, & limited thoracotomy.
Percutaneous transcatheter closure
In recent times, secundum ASD have been closed
by using a variety of catheter-implanted occlusion
devices rather than by direct surgical closure with
These devices are placed through a femoral venous
approach & are deployed like an umbrella to seal
the septal defect.
These devices work best for centrally located
Long-term risk of atrial fibrillation or flutter
Risk of infective endocarditis exists during the first
6 months after surgery.
Congestive heart failure
Patent Ductus Arteriosus
the descending thoracic
aorta & the pulmonary
Results from failure of
closure of the fetal
The typical child with PDA is asymptomatic.
At times, the patient may report decreased exercise
tolerance or pulmonary congestion in conjunction
with a murmur.
Tachypnea, diaphoresis, inability or difficulty with
feeding & weight loss or no weight gain.
A ductus arteriosus with a moderate-to-large L to R
shunt may be associated with a hoarse cry, cough,
lower respiratory tract infections, atelectasis or
With large defects, the patient may have a h/o
feeding difficulties & poor growth during infancy,
described as FTT.
Adults whose PDA has gone undiagnosed may
present with s/s of heart failure, atrial arrhythmia,
or even differential cyanosis limited to the lower
extremities, indicating shunting of unoxygenated
blood from the pulmonary to systemic circulation.
Based on careful clinical evaluation, including
physical examination showing the characteristic
murmur, typical ECG abnormalities, radiographic
changes, & echocardiographic/Doppler findings.
ECG is the primary diagnostic study used to
evaluate & diagnose PDA.
CBC & metabolic panel
The echocardiographic findings are typically
diagnostic for PDA.
High velocity jets of turbulent flow in the pulmonary
artery can be reliably detected by color flow Doppler
imaging; this technique is sensitive in detecting
even the small PDA.
Cardiomegaly may be present with or without CHF.
If significant L-to-R shunt through the PDA is
present, the PA , PV , LA & LV are enlarged on
chest films. Also, the ascending aorta may be
In the neonate, especially the premature neonate
with a large PDA, T-wave inversion & ST segment
depression may be present, suggesting ischemia or
a supply-demand mismatch.
Cardiac Catheterization & Angiography
Color-flow Doppler mapping is more sensitive than
cardiac catheterization in detecting a small PDA.
However, cardiac catheterization may be required
for confirmation of clinical diagnosis in children
with pulmonary hypertension and/or associated
congenital cardiovascular malformations.
Selective angiography is the definitive tool for
determining the presence & size of the ductus.
Angiography is also used to define the intracardiac
anatomy when other defects are suspected.
If medical therapy is ineffective, urgent intervention
to close the structure should be undertaken.
CHF is an indication for closure of PDA in infancy.
All PDA should be closed because of the risk of
bacterial endocarditis associated with the open
Closure of the PDA is stimulated by administration
of prostaglandin synthesis inhibitors, such as
indomethacin or aspirin, which is effective in
Indomethacin (0.1 mg/kg) is administered orally at
This treatment is particularly valuable in premature
infants presenting with respiratory distress
syndrome complicated by left-to-right shunting
through the ductus.
Until the patency of the ductus is corrected,
administer antibiotics in patients during instances of
high exposure to bacteremia (eg, instrumentation,
dental procedures), as recommended by the
American Heart Association for the prevention of
In infants who present with CHF, the standard
treatment of digoxin & diuretic therapy usually
palliates the condition.
The use of the percutaneous route to close the PDA
is becoming more common.
Transcatheter occlusion is an effective alternative to
surgical intervention & is becoming the treatment of
choice for most cases of PDA in children & adults.
Typically, complete occlusion is achieved at
Occasionally, a tiny residual left-to-right shunt
remains at the end of the procedure, which closes
by thrombus formation over the following days or
Remain the standard treatment of large PDA that
require treatment in infancy.
Indications for surgical treatment include the failure
of indomethacin treatment, Contraindications to
medical therapy (eg, thrombocytopenia, renal
insufficiency), Signs & symptoms of CHF, PDA
found in an older infant
Development of pulmonary vascular obstructive
Res Dev Disabil. 2015 Oct-Nov;45-46:58-68.
Neurodevelopmental outcome after surgery for acyanotic
congenital heart disease.
Sarrechia, Miatton, François, Gewillig, Meyns , Vingerhoets,
This study was designed to objectify the neuropsychological
profile & evaluate associations with medical data. Patients with
a corrected atrial or ventricular septal defect, ASD-II or VSD &
a matched control group were submitted to an intelligence test
(Wechsler Intelligence Scale for Children, third edition, Dutch
version) & evaluated with a neuropsychological test battery
(Developmental Neuropsychological Assessment, second
edition, Dutch version).
Hospitalization variables were retrieved to evaluate
associations with cognitive outcome. Parents completed a
behavioral checklist (Achenbach Child Behavior Checklist for
Children aged 6-18).
ASD-II patients showed lower scores in domains of
visuospatial processing, language, attention, & social
perception. VSD patients displayed subtle problems in
attention & visuospatial information processing. Only few
perioperative medical factors, but also socioeconomic
variables were associated with cognitive outcomes. Parents of
ASD-II patients reported more school problems when
compared to controls.
After treatment for aCHD, subtle cognitive difficulties
can present in domains of visuospatial information
processing, language, attention, & social perception.
These shortcomings might hamper school
performances, as is suggested by lower school
competence ratings. Ongoing follow-up & cognitive
screening is warranted to promote developmental
progress, in which both parents & clinicians share
J Med Assoc Thai. 2012 Dec;95(12):1501-8.
Comparison of renal function between cyanotic &
acyanotic congenital heart disease in children &
Amornchaicharoensuk Y et.al.
To evaluate the prevalence renal dysfunction & to compare
glomerular & tubular function between cyanotic & acyanotic
CHD in children & adolescent. Correlations among clinical
factors, urinary glomerular & tubular markers for kidney injury
were also determined.
MATERIAL & METHOD:
Renal function was determined by estimated GFR, urine
protein/creatinine, urine microalbumin /creatinine, FE Na+, FE
Mg2, & urine NAG/creatinine in children & adolescent with
46 patients, 15 cyanotic (group 1) & 31 acyanotic CHD (group
2), were studied. Only the differences of urine NAG/creatinine,
FE Mg2+, & urine protein/creatinine between the two groups
were statistically significant. Significantly higher prevalence of
abnormal biochemical markers in group 1 compared to those
of group. The authors found moderate correlation between
hemoglobin & functional class of the patients & highly negative
correlation between oxygen saturation & functional class .
Cyanotic CHD patients had more prevalence &
higher abnormal biochemical markers for renal
dysfunction than those of acyanotic CHD. Their
urine protein/creatinine, FE Mg2 & urine
NAG/creatinine were higher than those of
acyanotic CHD. Only low correlation among
biochemical markers was found.
Refers to a dynamic or fixed anatomic obstruction
to flow from the right ventricle (RV) to the
pulmonary arterial vasculature.
Isolated valvular PS comprises approximately 10%
of all congenital heart disease.
Except for critical stenosis in neonates, survival is
the rule in congenital PS.
A slight female predominance exists.
• The valve commissures are partially fused & the 3
leaflets are thin & pliant, resulting in a conical or
dome-shaped structure with a narrowed central orifice.
• Occurs as a narrowing of the infundibular or
subinfundibular region, often with a normal pulmonic
valve. Present in individuals with TOF & can also be
associated with a VSD.
• Cause obstruction at the level of the main pulmonary
artery, at its bifurcation, or at the more distal branches.
May occur at a single level, but multiple sites of
obstruction are more common.
Those with severe PS may experience exertional
dyspnea & fatigue.
In extremely rare cases, patients present with
exertional angina, syncope, or sudden death.
Peripheral edema & other typical symptoms occur
with right heart failure.
Cyanosis is present in those with significant R to L
shunt via a patent foramen ovale, ASD or VSD.
Plain Chest Radiography
Prominence of the main, right, or left pulmonary
arteries caused by post stenotic dilatation.
Definitive confirmation of the diagnosis of PS.
Using 2-D imaging, thickening of the valves,
characteristic of nondysplastic valves, RV
hypertrophy can be noted readily.
Cardiac Catheterization & Pulmonary Angiography
Generally is not needed except when a significant
discrepancy is noted between clinical findings &
Can diagnose PS by a pressure gradient from the
pulmonary artery to the RV on "pull-back" of the
pulmonary artery catheter.
In the case of isolated PPS, pulmonary
angiography may be needed to establish the
The degree of RV hypertrophy on the ECG is
largely correlated directly with the severity of PS.
With mild PS, 50% of patients have a normal
ECG tracing or only mild right-axis deviation.
With moderately severe PS, right-axis deviation
& increased R-wave amplitude in V1 are seen.
Severe PS is associated with extreme right-axis
deviation, a dominant R wave in AVR, & a
prominent R wave (>20 mm) in V1.
Traditionally, PS was treated by surgical valvotomy.
Pulmonary artery balloon angioplasty with or
without placement of an expandable metal stent can
be used to treat supravalvular PS & PPS.
Expandable metal stents can overcome an
However, the need for stent reexpansion as the
individual grows remains problematic.
The obstruction of blood flow across the aortic valve.
Among symptomatic patients with medically treated
moderate-to-severe aortic stenosis, mortality from
the onset of symptoms is approximately 25% at 1
year & 50% at 2 years.
Symptoms of aortic stenosis usually develop
gradually after an asymptomatic latent period of 10-
Signs & symptoms
Chest pain: Typically precipitated by exertion
& relieved by rest
Heart failure: Paroxysmal nocturnal
dyspnea, orthopnea, dyspnea on exertion, &
shortness of breath
Syncope: Occurs upon exertion when
systemic vasodilatation in the presence of a
fixed forward stroke volume causes the
arterial systolic blood pressure to decline
Soft or normal
splitting of the
Two-dimensional transthoracic echocardiography
can confirm the clinical diagnosis of aortic stenosis
Provide specific data on LV function.
The structure & function of the other heart valves
can also be assessed.
Cardiac size often is normal, with rounding of the
LV border & apex. Post stenotic dilatation of the
ascending aorta is common.
Cardiac Catheterization & Coronary Arteriography
An accurate measure of aortic stenosis
Exclusion of CAD by coronary angiography is
important in all patients >35 years who are being
considered for valve surgery.
Coronary angiography should also be performed in
patients <35 years if they have LV systolic
dysfunction, s/s suggestive of CAD, or 2 or more
risk factors for premature CAD, excluding gender.
Evaluate myocardial perfusion at rest & during
exertion & exercise may be considered as part of
the complete workup of aortic stenosis.
Exercise Stress Testing
Contraindicated in symptomatic patients with severe
May be considered in asymptomatic patients with
severe aortic stenosis.
Closely monitored exercise stress testing may be of
value to assess exercise capacity in asymptomatic
Treated supportively with oxygen, cardiac &
oximetry monitoring, IV access, loop diuretics,
nitrates, morphine & noninvasive or invasive
ventilatory support .
Patients with severe heart failure due to aortic
stenosis that is resistant to medical management
should be considered for urgent surgery.
Angina pectoris requires monitoring. Measures may
include nitrates, oxygen, & morphine to relieve the
Percutaneous Balloon Valvuloplasty
Used as a palliative measure
who are not surgical candidates or as a bridge to
aortic valve replacement in critically ill patients.
The high rate of restenosis & the absence of a
mortality benefit preclude its use as a definitive
treatment method in adults with severe aortic
Aortic Valve Replacement
Surgical treatment of choice.
If concomitant coronary disease is present, aortic
valve replacement & coronary artery bypass graft
(CABG) should be performed simultaneously.
Successful aortic valve replacement produces
substantial clinical & hemodynamic improvement in
patients with aortic stenosis
Patient's own pulmonary valve & main pulmonary
artery are transplanted to the aortic position.
A homograft is placed in the pulmonary position. Its
durability may be better than tissue valves.
Percutaneous transcatheter valve replacement
Not candidates for or are at high risk for
complications with surgical replacement of the
Studies have suggested that this as a less invasive
option for these high-risk patients.
Beta-Adrenergic Receptor Blockers
increasing vagal tone
pulmonary congestion may be treated with
control the ventricular rate in patients with atrial
with uncontrolled heart failure should be treated
supportively with loop diuretics.
reduce angiotensin II levels & aldosterone
Can also help patient anxiety, distress, &
Coarctation of the aorta
Defined as a constricted aortic segment that
comprises localized medial thickening, with some
infolding of the medial & superimposed neointimal
Coarctation is about twice as common in boys as it
is in girls.
It is common in girls who have Turner syndrome.
• Proximal to the
Blood flow to
the aorta is
• At the insertion
of the ductus
• Distal to the
insertion of the
with an open
blood flow to
the lower body
can be impaired
Poor appetite or trouble feeding, Failure to thrive
Dizziness or shortness of breath, faint or near-
Chest pain, abnormal tiredness or fatigue,
headaches, or nosebleeds
Arterial hypertension in the arms with low BP in the
lower extremities is classic.
Weak pulses in the femoral arteries & arteries of the
feet are found.
with early onset of coarctation of the aorta may
reveal RV rather than LV hypertrophy.
May reveal cardiomegaly, pulmonary edema, &
other signs of CHF
Intracardiac anatomy & allows assessment of
associated significant intracardiac anomalies.
Evaluation of the aortic arch to assess the
transverse aortic arch, isthmus, & severity of
MRI & CT
Useful in older or postoperative patients to assess
residual arch obstruction, arch hypoplasia, or
formation of aneurysms.
Diuretics & inotropic drugs.
Prostaglandin E1 (0.05-0.15 mcg/kg/min) is infused
intravenously to open the ductus arteriosus.
An umbilical artery catheter may be placed in
neonates to assess the response to prostaglandin
infusion with regard to improving lower-body blood
Patients stabilized by the above interventions are
better candidates for surgical or catheter
Balloon angioplasty & stenting
Balloon angioplasty is the treatment of choice for
Vascular stenotic lesions can be opened with
balloon angioplasty but because of the elastic
recoil of the vessel wall, the vessel lumen may
return to the predilation size following withdrawal of
the balloon catheter.
Such recoil & vascular dissection following balloon
dilatation can be circumvented with implantation of
Decreased Cardiac Output r/t Structural factors of
congenital heart defect
Assess heart sounds for gallops (S3, S4), HR & BP.
Note skin color, temperature, & moisture.
Check for peripheral pulses, including capillary refill.
Assess for reports of fatigue & reduced activity
Inspect fluid balance & weight gain. Weigh patient
Monitor ECG for rate, rhythm.
Provide adequate rest periods.
Position child in semi-Fowler’s position.
Administer oxygen therapy as prescribed.
Activity Intolerance r/t Generalized weakness
Assess level of fatigue, ability to perform ADL &
other activities in relation to severity of the
Assess dyspnea on exertion, skin color changes
during rest & when active.
Allow for rest periods between care.
Avoid allowing the infant to cry for long periods of
time, use soft nipple for feeding; cross-cut nipple; if
unable for infant to ingest sufficient calories by
mouth, gavage-feed infant.
Provide neutral environmental temperature; keep
the infant covered to prevent heat loss.
Provide toys & games for quiet play & diversion
appropriate for age of child.
Assist parents to plan for care & rest schedule.
Explain to parents need to conserve energy &
Risk for Injury r/t Cardiac function compromised by
congenital defects & medication administration
Assess for risk of drug toxicity
Assist & support family’s feeling & decision
Prepare parents & child for diagnostic procedures
Instruct in the administration of drugs, taking the
apical pulse, when to withhold, to notify the low or
irregular pulse, signs of toxicity.
Teach actions to take if the child becomes cyanotic
(knee-chest or squatting position, elevating head &
chest), when to call the physician.
Risk for Infection r/t Chronic illness
Assess temperature, IV site if present, increased
WBC, increased pulse & respirations.
Avoid allowing those with infections to have contact
with infant/ child.
Provide adequate rest & nutritional needs for age.
Wash hands before giving care.
Use sterile technique for IV maintenance if present.
Administer antibiotics as ordered
Instruct parents & child in maintaining personal
PREVENTION OF CHD
Education of lay public on the risks associated with
consanguinity, drugs & teratogens in the first
trimester of pregnancy
Immunization against rubella
Fetal echocardiography is emerging as a modality
for early diagnosis of CHD.
Conditions that involve major chamber discrepancy
(such as hypoplastic left heart syndrome), single
ventricles & common AV canal can be identified by
routine screening as early as 14-16 weeks
Summary & Conclusion
Acyanotic heart defects are congenital cardiac
malformations that affect the atrial or ventricular
walls, heart valves, or large blood vessels.
Common causes include genetic defects (e.g.,
trisomies), maternal infections (e.g., rubella), or
maternal consumption of drugs or alcohol during
Acyanotic heart defects are characterized
pathophysiologically by a left-to-right shunt, which
causes pulmonary hypertension & right heart
The symptoms depend on the extent of the
malformation & the resulting impairment of cardiac
Infants may be asymptomatic or present with
exercise intolerance, failure to thrive, & symptoms
of heart failure.
Acyanotic heart defects requiring treatment are
repaired via catheter procedures or surgery.
Supportive medical therapy is needed in cases of
heart failure (e.g., diuretics, inotropic agents) or if
surgery cannot be performed (e.g., prostaglandin).
Altman CA, Fulton DR, Weisman LE, Armsby C. Diagnosis
and Initial Management of Cyanotic Heart Disease in the
Newborn. In: Post TW, ed. UpToDate. Waltham, MA:
Ghai. Essential pediatric.8th ed . CBS Publishers;.Pp 400-
Hurst JW, Fuster V, Walsh RA, Harrington RA, editors.
Hurst’s the heart. 13th ed. New York: McGraw-Hill Medical;
2011. Pp 1900-1904
the most severe complication of a large VSD. Fixed & irreversible pulmonary hypertension develops, resulting in reversal of the left-to-right shunt to a right-to-left shunt.
In patients with small VSDs, ECG findings are normal.
In Children with small VSDs neither medical therapy nor surgical therapy is indicated. Prophylactic antibiotic therapy against endocarditis is no longer indicated in most cases. Maintenance of good oral hygiene is of paramount importance in reducing the risk of endocarditis. to relieve pulmonary congestion These medications reduce both the systemic & pulmonary pressures, thereby reducing the left-to-right shunt
No specific or definitive medical therapy is available
crossed embolism, refers to an embolus which is carried from the venous side of circulation to the arterial side, or vice versa.
Spontaneous closure of the PDA is common. If significant respiratory distress or impaired systemic oxygen delivery is present, therapy is usually prudent.
These children can be treated until they are several years old & are good candidates for ductal closure. When medical treatment of congestive heart failure fails in infants, the patients are referred early for surgical closure of the structure.
arterial pulse waveform showing alternating strong and weak beats just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery
are limited in symptomatic patients with aortic stenosis who are not candidates for surgery.
In mild cases, children may show no signs or symptoms at first & their condition may not be diagnosed until later in life. In more severe coarctations, babies may develop serious problems soon after birth
Significant HTNor CHF is an indication Surgical relief of the aortic obstruction & catheter interventional techniques (balloon angioplasty & stents) are available alternatives.
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