Congenital Heart Defects
the defect:
Defini2ons:
Congenital- means inborn or exis1ng at birth.
Congenital Heart defect
- a malforma1on of the heart exis1ng
at birth
- Results from the failure of the heart
or major blood vessels to mature
normally during gesta1on.
- Also called congenital cardiovascular
defect
- Structural problems that arise from
abnormal forma1on of the heart or
major blood vessels.
- Defects range in severity from:
o 1ny pinholes between
chambers that may resolve
spontaneously.
o to major malforma1ons
that can require mul1ple
surgical procedures before
school age (0-6) and may
result in death in utero,
infancy, or childhood.
Incidence:
• CHD affects 25k – 30k children a year. (8
out of every 1000 births each year).
• Major cause of death in the first year of
birth.
• Most common congenital malforma1on
in the newborn
• Sex affected differently depending on
o Males:
§ Aor1c Stenosis
§ Coarcta1on of the Aorta
§ Transposi1on of the
Great Veins
o Female:
§ Patent Ductus
Arteriosus
§ Atrial Septal Defect
• Children with congenital heart defect are
also more likely to have extracardiac
defects like:
o Tracheoesophageal fistula
o Renal agenesis
o Diaphragma1c hernias
E2ology:
• 85-90% of cases have no iden1fiable
cause.
• Generally considered to be caused by
mul1factorial inheritance.
v Gene1c Factors
Ø Sibling/Parent with heart defect
o 1 child: 1.5-5%
o 2 children: 5-10%
o Mother: 2.5-18%
o Father: 1.5-3%
o CHD involving obstruc1ons in
the le[ side of the heart have a
higher rate of recurrence than
other heart defects.
 o If another child is born with CHD,
it can be a different type of
defect than seen in the first
child.
Ø Chromosomal aberra1ons
- Problems with chromosome that
result in gene1c syndromes o[en
result in a higher incidence of infant
heart malforma1ons.
- Too few or too many chromosomes
result in health problems and birth
defects.
- Half of all babies with Down
Syndrome (DS) have CHD.
- Chromosome abnormali1es
associated with CHD:
o DS
o Trisomy 18 and 13: Turner’s
Syndrome.
o Cri du chat syndrome
o Velo-cardio-facial syndrome
and/or DiGeorge sequence
o Williams syndrome
v Prenatal Factors
o Viral Infec1ons (rubella)
o Exposure to drugs
§ An1-seizure meds
§ Lithium
§ OH
§ Accutane
§ Cocaine
o Maternal age >40yo
o Type 1 DM (uncontrolled)
o PKU
o Lupus
Fetal Blood Circula2on
Summary:
(Before Birth)
- Blood carrying O2 and nutrients from the
placenta enters fetal system thru the UV
> ½ of it passes to the liver and ½ passes
the DA which bypasses the liver > IVC >
RA > Foramen Ovale > LA > LV > Aorta >
Systemic Circula1on
- Blood from the head and upper
extremi1es > SVC > RA > Tricuspid Valve
> RV > PA > bypasses lungs via DA > Aorta
(A[er Birth)
With the expansion of the lungs at birth and the
cessa1on of placental blood flow when the
umbilical cord is clamped, the NB must quickly
respond to receiving O2 from the lungs.
- With the first breath, lungs are expanded
and increased O2 causes vasodila1on >
¯Pulmonary Pressure > ­blood flow to
the RA > RV > Lungs
 - With the removal of the placenta,
Systemic Pressure starts to rise =
o Pulmonic < Systemic Pressure =
L-R Shunt
- Two transforma1ons from fetal to
neonatal circula1on involves 2 major
changes:
o Marked increase in Systemic
Resistance caused by loss of the
low-resistance placenta.
o Marked decrease in Pulmonary
Resistance caused by Pulmonary
dila1on with the neonate’s first
breaths.
Pediatric Differences:
- Fetal 1ssues are accustomed to low
O2Sat in utero > NB with cyano1c HD
appear rela1vely comfortable when the
pO2 is 20-25 mmHg (in older children,
death could occur in minutes)
- RV = LV size; at 2 mos, LV is twice the size
of RV
- Muscle fibers are less developed and less
organized
o Infants have a higher risk of HF
than older children bc the
immature heart is more
sensi1ve to volume/pressure
overload
o Limited func1onal capacity: (less
compliance = amt of
disten1on/expansion) > can’t
increase stroke volume
substan1ally
- By the age of 5, the muscle fibers are
developed so that the heart func1on is
comparable to a healthy adult.
- Cardiac output depends completely on
the heart rate un1l muscle fibers are fully
developed at 5yo.
o O2 req are high in the 1st few wks
of life. It is normal in the NB to
have an increased HR to provide
adequate O2 transport.
- Children respond to severe hypoxemia
with bradycardia > cardiac arrest.
 v Hypoxic Spell/Tet Spell/Cyano1c
Spell/Hypercyano1c spell/Paroxysmal
dyspnea
Ø Episodic central cyanosis d/t total
occlusion of RV ounlow in a Pt with CHD,
such as TOF
Ø Characterized by:
• Paroxysm of hyperpnea (rapid
Diagnos2c Procedures and deep respira1ons)
• Irritability and prolonged cry
HISTORY • Increased cyanosis
v Possible causes of CHD • Decreased intensity of heart
v Poor wt. gain / feeding behavior murmur
v Frequent RTI v Maternal and Perinatal Hx
v Prior murmurs Ø Hx of use of teratogenic drugs
v Tachypnea, Dyspnea, Shortness of breath Ø Birth Weight
v Cyanosis v Family Hx
v Exercise intolerance / Easy fa1guability Ø Usual prevalence of 8 in 1000
v Hx of cardiology related Ø 1st degree related = 10-15% increase in
Ø Heart Failure prevalence
§ Usually present in 1yo
§ Tachypnea PHYSICAL EXAM
§ Prolong feeding (Inspect)
§ Poor wt. gain v General
§ Diaphoresis Ø Assess growth
§ Pallor § Finding dysmorphic features
§ Exercise intolerance Ø Note presence of diaphoresis
v Cyanosis § Diaphoresis > Low cardiac output >
increased sympathe1c ac1vity (seen
in CHF)
v Ac2vity
Ø Is exercise intolerance present?

Ø Child 1re with feeding?
§ Common symptom in significant
acyano1c CHDs
§ Feeding = exercise
§ Infant with HF:
• Inability to complete feedings
w/in 15-20 mins
• Suck less vol. of milk (<3.5
oz/feeding)
• Gets 1red easily and takes
frequent feeds (<2hrs)
Ø Feeding difficul1es
§ Feeds are inadequate = become
irritable and cry = Suck-rest-suck
cycle con1nues RTC
§ As pulmonary vascular resistance
declines > irritability and fussiness =
angina and ischemia (child with
anomalous le[ coronary artery from
the PA)
Ø Easy Fa1guability
§ In infants = poor ability to suck and
feed
§ Older children = HF may be
manifested as
• exercise intolerance
• Difficulty keeping up with peers
• Need for a nap a[er coming
home
• Poor growth
v Respira2on
Ø Inspect
§ Rate, depth, respiratory effort
§ Is a cough present?
§ Signs of increased respiratory effort
Ø Respiratory Distress
§ Most prominent sign of HF caused by
L-R shun1ng in infancy
§ Symptoms
• Tachypnea (RR: >60bpm in NB;
>50bpm in infants)
• Intercostal and subcostal
retrac1ons
§ Grun1ng and nasal flaring (very sick
pa1ents)
§ Unlabored Tachypnea = Cyano1c HD
§ Grun1ng and dyspnea = L-sided
Obstruc1ve Lesions
§ Tachypnea w/ or w/o dyspnea = LSHF
v Nutri2onal Status
Ø Failure to thrive / Growth retarda1on
§ Defined as Weight is <3rd percen1le
for age.
Ø Poor weight gain
§ Infants should gain abt 20g/day
§ Normal infant = 100 cal/kg/day
§ Infants with HD = 130-140 cal/kg/d
Ø Acyano1c pa1ents: weight is more
affected due to high catabolic rate and
poor feeding d/t dyspnea and fa1gue
Ø Cyano1c pa1ents: disturbances in both
height and weight
v Color (cyanosis/pallor) § Other manifesta1ons include
Ø Onset: at birth or several days a[er birth tachypnea, dyspnea, and
Ø Note for: hepatomegaly
§ Severity of cyanosis Ø Observe for abdominal disten1on
§ Permanent/Paroxysmal Nature Ø Signs of dehydra1on
§ Parts of the body that is cyano1c v Thrills
§ Does cyanosis worsen a[er feeding? Ø Thrills @
§ For Cyano1c spells: § Lower Sternal Border = VSD
• Time of appearance § R Upper Sternal Border = Severe AS
• Dura1on § Suprasternal Notch = PS (less
• Frequency common)
Ø Differen1ate cyano1c spells from breath § Diastolic thrills are less common
holding spells v Hepatomegaly
Ø Contrast color in peripheral and central Ø due to CHF and RSHF – conges1on of the
loca1ons heart increases pressure in the IVC,
v Hx of squaOng along with the hepa1c veins.
§ Squaqng is a compensatory v Peripheral pulses
mechanism (usually of pts with TOF) Ø Note for:
as it increases PVR w/c decreases R- § Rate and regularity
L shunt across the VSD. • Diminished pulse = cardiogenic
v Clubbing of fingers shock or low cardiac output
v Inspect anterior chest for bulging/heaving § Discrepancies
Ø Precordial bulging = RV Volume Overload • Compare apical, brachial, and
radial pulse rates
(Palpate) ¨ Discrepancy in both radial
v Edema pulses equals
Ø Observe for periorbital, facial, or Ø Supravalvular AS
peripheral edema Ø Aor1c isthmus stenosis
§ Pre1bial and presacral edema are Ø Pre-ductal COA with the
late developments of Conges1ve L subclavian arising
circulatory failure below the coarcta1on
 Ø Aortoarteri1s w/ § Narrow pulse pressure = Low cardiac
obstruc1on to L Output or Severe AS
subclavian artery § Pulse pressure widens in condi1ons
• Compare brachial and femoral w/ elevated CO (anemia and anxiety)
pulses. or abnormal runoff of blood from
¨ Weak leg > arm = COA the aorta (PDA/Aor1c insufficiency)
§ Character of Pulse (Auscultate)
• Bounding = v Heart Rate and rhythm

¨ PDA v Heart Sounds

¨ BAV w/ Sever AR Ø Loud S1 = increased flow across the AV

¨ Large systemic AV Fistulas Valves from large L-R shunts

¨ Persistent Truncus § ASD, VSD, PDA

Arteriosus Ø Normal Spliqng = Small VSD, Mild AS/PS

• Pulsus parvus et tardus Ø Wide Spliqng

¨ Pulse is weak and late pulse Ø Volume overload= ASD, PAPVR

= severe AS Ø Pressure Overload = PS

Ø Electrical delay = RBBB
• Weak, thready pulse
Ø Early aor1c closure= MR
¨ CF / Circulatory shock
Ø Loud S3 = Dilated ventricles and
¨ Myocardi1s
decreased ventricular compliance
¨ Cardiomyopathy
§ Large shunt VSD, CHF
¨ Legs in pa1ents w/ COA
§ “Kentucky Gallop”
¨ Arm pulses on the side of
Ø S4 = pathologic, decreased ventricular
classic BT shunt / subclavian
compliance
flap-angioplasty
§ CHF
Ø Blood Pressure
§ “Tennessee Gallop”
§ Compare BP with expected value
v Character of sounds (murmur)
§ Compare BP between upper and
Ø Heard within few hours of birth =
lower extremi1es
Steno1c lesion / AV Valve Regurgita1on,
• BP = Leg - Arm = SBP of 10-
small L-R shunts lesions as their flow
20mmHg
characteris1cs is independent of PVR
§ Upper Extremity HTN = 1st sign of
changes.
COA
 Ø Murmurs of large L-R shunts are delayed - Non-invasive ultrasound
d/t slow regression of pulmonary a. Transthoracic
vascular resistance a. M-mode = 1D; es1mates
Ø Murmur that is first no1ced in a rou1ne ventricular size and func1on
examina1on of a healthy boy = innocent b. 2D= cross sec1onal views of the
v Adven22ous Sounds heart
Ø Crepita1on or Rales = Pulmonary c. Doppler = iden1fy blood flow
conges1on pauerns and pressure
b. Fetal – imaging heart in utero
CHEST XRAY c. Transesophageal – placed in esophagus
- Provide info on heart size and pulmonary behind heart
blood flow markings
a. TOF – Boot CARDIAC CATHETERIZATION
b. TGA – Egg Purpose:
c. TAPVC – Snowman Imaging study using radiopaque catheters places
d. Ebstein – Box in a peripheral blood vessel into the heart
a. Diagnos2c
ELECTROCARDIOGRAM (ECG) To detect CHD (done before surgical repair)
- Graphic measurement of electrical o R-sided catheteriza1on = more
ac1vity of the heart common, via femoral access
- Holter monitor – 24hr ECG for o L-sided = via artery>aorta>heart
arrythmias 1. Hemodynamics – measures pressures and
- Records electrical impulses via O2sats in heart chambers
electrodes and a galvanometer 2. Angiography – use of contrast material to
o Detect cardiac arrythmias illuminate heart structures and blood flow
o Iden1fy electrolyte imbalances pauerns
o Monitor ECG during stress test 3. Biopsy – 1ny samples for microscopic
evalua1on; assess for inflamma1on,
ELECTROCARGDIOGRAPHY infec1on, muscle dysfunc1on disorders, and
- Use high-frequency waves obtained by to evaluate rejec1on a[er heart transplant
transducer to produce images of cardiac
structures
4. Electrophysiology – record electrical ac1vity
from w/in the heart; diagnose rhythm
disturbances.
b. Interven2on/Therapeu2c
Use of balloon catheter or other devices
to alter cardiac anatomy
1. Dilate stenosed valves or vessels
2. Close abnormal openings
Manner of introduc1on of catheter:
a. Cutdown
b. Percutaneous = catheter threated
through a large bore needle inserter in a
vein (guided with fluoroscopy)
v Poten1al Complica1ons
Ø Perfora1on of PA
Ø Allergy to contrast media
Ø Dysrhythmias
Ø Hypotension
Ø Stroke
Ø Vascular compromise in the leg
§ Loss of pulse d/t to clot
§ Hematoma
§ In1mal tear
Ø Bleeding
EXERCISE STRESS TEST
Test performed to evaluate exercise tolerance
- Use of ECG leads, BP cuff, and some1mes
an O2 consump1on monitor
HOLTER-MONITOR
(AMBULATORYELECTROCARDIOGRAPHY)
- 24-48hr recording of ECG on magne1c
tape
- Detect rhythm disturbances, changes in
HR w/ ac1vity or sleep
- Response to an1-arrhythmic meds
MRI
- Non-invasive imagine evalua1ng
vascular anatomy outside of the heart
- Produces results similar to a CT scan
- Produce images of the myocardium,
structure, valve func1on, blood vessels,
and other so[ 1ssues.
CBC & ABG
- Increased Hbg and Hct d/t polycythemia
- ABG measure the acidity and the lvls of
O2 and CO2 in the blood from an artery.
OTHERS
v Serum electrolytes – K, Na, Ca, and Mg affect
cardiac func1on
v Serum enzymes – Presence of enzymes are
indica1ve of damage to muscle 1ssue and
indirect indicator of a damaged myocardium.
Ø CPK LDH, SGOT.MB(CKMB), Trop T.
v Serum Lipids – indicate presence of
atherosclerosis