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Congenital Heart Disease
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Congenital Heart Disease
, Congenital Heart Defect
See Also
Pediatric Congestive Heart Failure
Pediatric Murmur
Congenital Heart Disease Causes
Neonatal Distress Causes
Fetoplacental Circulation
Neonatal Cyanosis
Single Ventricle Congenital Heart Disease
Epidemiology
Incidence
: 75 cases per 1000 live births (up to 1%, or 40,000 per year in U.S.)
Serious causes requiring surgery in first year of life occur in 25% of cases
Precautions
Up to 60% of Congenital Heart Disease has a delayed diagnosis
Causes
See
Congenital Heart Disease Causes
Ventricular Septal Defect
s account for 25% of cases
Most common Congenital Heart Disease surgical repair
Secundum-type
Atrial Septal Defect
s (
Ostium Secundum
) account for 10% of cases
Risk Factors
See
Newborn History
Maternal
Diabetes Mellitus
Family History
of Congenital Heart Disease
Maternal history: 5-10% CHD risk
Sibling history: 2-3% CHD risk
Rubella
exposure in first trimester (PDA)
Residence at high altitude (PDA)
Systemic Lupus Erythematosus
Maternal medications and substances
See
Family History
below
Associated Conditions
Trisomy 21
(50%
Incidence
of Congenital Heart Disease,
Endocardial Cushion Defect
s)
Ventricular Septal Defect
AV canal defect
Patent Ductus Arteriosus
Tetralogy of Fallot
Trisomy 18 (95%
Incidence
of Congenital Heart Disease)
Ventricular Septal Defect
Trisomy 13 (80-90% incidence Congenital Heart Disease)
Ventricular Septal Defect
Turner Syndrome
(45, XO)
Aortic Coarctation
Aortic root abnormalities
Hypertension
Marfan Syndrome
Aortic aneurysm
Aortic root dilation
Mitral Valve Prolapse
Noonan Syndrome
Pulmonic stenosis
Aortic Coarctation
Fetal Alcohol Syndrome
Atrial Septal Defect
Ventricular Septal Defect
Tetralogy of Fallot
Acquired conditions
Rheumatic Fever
Kawasaki Disease
Other
Phenylketonuria
Osteogenesis Imperfecta
Pierre Robin Syndrome
Underdeveloped jaw,
Tongue
displaced posteriorly,
Cleft Palate
and upper airway obstruction
DiGeorge Syndrome
(Catch 22 Syndrome,
Velocardiofacial Syndrome
)
Cardiac defects, abnormal facial features, thymic hypoplasia,
Cleft Palate
and
Hypocalcemia
VACTERL Association
Vertebra
l defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal and limb anomalies
CHARGE Syndrome
Coloboma
, heart defects, atresia choanae, growth retardation, genital, and ear anomalies
Differential Diagnosis
See
Neonatal Distress Causes
Neonatal Sepsis
Pneumonia
Inborn Errors of Metabolism
Structural heart disease
Myocarditis
Dilated Cardiomyopathy
Supraventricular Tachycardia
Hypoglycemia
Neurologic and Hematologic causes are much less common
History
Family
Family History
of Congenital Heart Disease
Hypertrophic Cardiomyopathy
Ventricular Septal Defect
Mitral Valve Prolapse
Premature
Sudden Cardiac Death
SIDS
Maternal history
Diabetes Mellitus
Associated with transient
Hypertrophic Cardiomyopathy
, tetralogy,
Truncus Arteriosus
, double outlet RV
Congenital Heart Defects in 3-5% of infants born to diabetic mothers
Rubella
Associated with peripheral pulmonary stenosis,
Patent Ductus Arteriosus
Maternal
Obesity
BMI >40 doubles
Prevalence
for aortic arch defects and
Great Vessel
transposition
Increased maternal BMI also associated with
Atrial Septal Defect
, persistent ductus arteriosus
Maternal drug and medication uses
Alcohol
use during pregnancy
See
Fetal Alcohol Syndrome
associations above
Valproate
(
Valproic Acid
)
Associated with
Aortic Coarctation
,
Hypoplastic Left Heart Syndrome
Lithium
Associated with
Ebstein Anomaly
tricuspid valve
Selective Serotonin Reuptake Inhibitor
s (
SSRI
)
Associated in some studies with
Ventricular Septal Defect
, bicuspid aortic valve
NSAID
s (e.g.
Indomethacin
,
Ibuprofen
)
Premature ductus arteriosus closure (
Odds Ratio
15 if third trimester exposure)
Hydantoin
(
Phenytoin
)
Trimethadione
Primidone
Carbamazepine
(
Tegretol
)
Retinoic Acid
Chemotherapy
Mycophenolate mofetil
(
Cellcept
)
Warfarin
(
Coumadin
)
ACE Inhibitor
s
Symptoms
Children at any age
Dyspnea
(74%)
Nausea
or
Vomiting
(60%)
Fatigue
(56%)
Cough
(40%)
Younger children
Poor feeding
Neonatal Respiratory Distress
Impaired pulmonary
Blood Flow
or arterio-venous mixing lesions
Failure to Thrive
,
Short Stature
or
Developmental Delay
Consider genetic disorder
Older children
Exercise Induced Syncope
,
Near Syncope
or
Cyanosis
Aortic Stenosis
Hypertrophic Cardiomyopathy
Anomalous
Coronary Artery
origin
Decreased
Exercise
tolerance
Palpitation
s
Chest Pain
(<6% due to cardiac source)
Hypertrophic Cardiomyopathy
(or other left ventricular outflow obstruction)
Signs
See
Pediatric Vital Signs
Skin Color
Central
Cyanosis in Infants
(typically out of proportion to respiratory distress, >10 min after birth)
Cyanotic Congenital Heart Disease
'
Cyanosis
that worsens with crying suggests cardiac cause
Cyanosis
that improves with crying is suggests pulmonary cause
Skin mottling in infants suggests aortic disorder
Aortic Coarctation
Severe
Aortic Stenosis
Pink skin in an infant with findings of CHF
Left to right heart shunt (e.g. large ASD or VSD)
Other skin findings of decreased perfusion
Prolonged
Capillary Refill Time
Mottled extremities
Cool distal extremities
Signs of Respiratory distress
Grunting
Tachypnea
(may also occur in cardiac lesions with acidosis)
Wheezing
Increased work of breathing and accessory
Muscle
use
Difficult feeding precedes
Congestive Heart Failure
Term infant parameters
Prolonged feeding longer than 40 minutes
Less than 2 ounces per feeding
Distress signs provoked by feeding
Tachypnea
Diaphoresis
Subcostal retraction
Failure to Thrive
Height and
Head Circumference
may be normal
Weight falls behind
Precordial examination
S3 Gallup Rhythm
, cardiac thrill or heave (CHF)
Cardiac Murmur
See
Pediatric Murmur
evaluation
Often the least important of the Congenital Heart Disease exam
Anterior
Chest
wall and sternal deformities (e.g.
Pectus Carinatum
)
Associated with
Relative Risk
at least double for Congenital Heart Disease
Femoral and Brachial
Pulse
Evaluate strength, symmetric and timing (asymmetry detects
Aortic Coarctation
)
Compare both brachial pulses for symmetry
Brachial pulses absent in left sided obstruction
Compare one brachial and one femoral pulse
Femoral
Pulse
s diminish with PDA closure
Other
Congestive Heart Failure
signs
Hepatomegaly
Edema
Oxygen Saturation
in the right hand (pre-ductal)
Hyperoxia testing involves delivering 100% oxygen for 10 minutes
Pulmonary cause related
Cyanosis
Supplemental Oxygen
100% increases
O2 Sat
>95% or
Supplemental Oxygen
100% improves
O2 Sat
more than 10% above baseline on room air
Cyanotic Congenital Heart Disease
causes
Supplemental Oxygen
100% increases
O2 Sat
<85%
Oxygen Saturation
drops with
Agitation
Also obtain postductal
Oxygen Saturation
in upper and lower extremities
Note significant discrepancy between upper and lower extremities (4% difference is significant)
Increased discrepancy consistent with
Aortic Coarctation
, persistent
Pulmonary Hypertension
Blood Pressure
in all 4 extremities
Pressure gradient >10-20 mmHg between right upper and the lower pressure left leg
May suggest
Aortic Coarctation
Gene
ral Examination
Concurrent Congenital defects (present in 25% of cases)
Labs
Basic metabolic panel (e.g. chem8)
Complete Blood Count
(CBC)
Arterial Blood Gas
Drawn from the right radial artery on room air
PaO2
<60 on room air suggests CHD
Consider repeat after 10 minutes on 100% oxygen
PaO2
<150 after 100% oxygen for 10 minutes suggests CHD
Expect
PaO2
to increase 30 mmHg or more on oxygen if
Cyanosis
due to pulmonary cause
Inadequate increase suggests cyanotic heart disease
May also be performed non-invasively with
Oxygen Saturation
(see signs above)
Labs not routinely recommended
B-Type Natriuretic Peptide
Troponin
(non-specific, elevated in
Neonatal Respiratory Distress
)
Infection evaluation in febrile infants
See
Neonatal Sepsis
Blood Culture
Urinalysis
Consider
Lumbar Puncture
Imaging
Chest XRay
See
Chest XRay in Congenital Heart Disease
Findings may include Cardiomegaly and increased pulmonary vascular markings
Early
Echocardiogram
Consider bedside Rapid
Ultrasound
for
Shock
and
Hypertension
(
RUSH Exam
)
Advanced imaging
Chest
MRI
Diagnostics
Electrocardiogram
(EKG)
Normal newborn
Right Axis Deviation
(right ventricle dominant)
Gene
ral abnormalities
Tachycardia
Wide
QRS Complex
Non-Sinus Rhythm (no consistent
P Wave
s)
Prolonged QT
Interval (especially if >500 ms)
Left Ventricular Hypertrophy
Associated with left-sided obstruction (e.g.
Aortic Coarctation
,
Critical Aortic Stenosis
)
Right Ventricular Hypertrophy
Associated with right-sided obstruction (e.g. tricuspid or pulmonic atresia, pulmonic stenosis,
Pulmonary Hypertension
)
Tetralogy of Fallot
may demonstrate RVH after 6 months of age
Lext axis deviation (QRS positive in I and negative in II, avF)
Seen in left-to-right shunt, VSD, PDA, tricuspid atresia,
Aortic Coarctation
Extreme Right Axis Deviation
(QRS negative in I, negative in avF)
Seen in severe pulmonary stenosis, transposition, tetralogy, single ventricle,
Truncus Arteriosus
, AV canal defect
Approach
Cardiac Presentations in infants
Nonstructural causes of cardiac emergencies in infants
Arrhythmia
s (e.g.
Bradycardia
,
Tachycardia
)
Myocardial dysfunction
Structural causes of cardiac emergencies in infants
Volume Overload (e.g. VSD, ASD, PDA,
TAPVR
, Truncus, AV Canal)
Pressure Overload
Left-sided obstruction (e.g.
Hypoplastic Left Heart
,
Aortic Coarctation
,
Aortic Stenosis
or atresia)
Right-sided obstruction (e.g. pulmonary or tricuspid atresia, pulmonic stenosis,
Ebstein's Anomaly
)
Diagnosis
See
Congenital Heart Disease Causes
Early Presentations in Newborns in first month of life (
Ductal Dependent Lesion
s)
Blue Neonate (right-sided obstructive lesion)
Right to left shunt results in systemic
Blood Flow
(Qs) that is greater than pulmonary
Blood Flow
(Qp)
Presents with
Cyanosis
(
O2 Sat
<65%), but normal perfusion (SBP>70 mmHg)
Causes: Pulmonary or Tricuspid atresia, Tetralogy,
Ebstein Anomaly
, Transposition
Grey Neonate (left-sided lesion)
Left to right shunt results in pulmonary
Blood Flow
(Qp) that is greater than systemic
Blood Flow
(Qs)
Presents in shock with poor perfusion (SBP <60 mmHg), but normal oxygenation (
O2 Sat
>90%)
Progresses from shock with
Tachycardia
and vascoconstriction to
Left Ventricular Failure
and
Pulmonary Edema
Causes:
Hypoplastic Left Heart
,
Aortic Coarctation
,
Aortic Stenosis
or atresia
Delayed Presentations in Infants (presenting after first month of life)
Blue Infant (
Cyanosis
may be subtle)
Mixing of oxygenated and deoxygenated blood AND increased pulmonary
Blood Flow
(Qp)
Causes:
TAPVR
,
Truncus Arteriosus
Pink Infant (volume overload,
Pulmonary Hypertension
, CHF)
Left to right shunt results in pulmonary
Blood Flow
(Qp) that is greater than systemic
Blood Flow
(Qs)
Causes: ASD, VSD, PDA
Management
Initial management and stabilization
Pediatric cardiology
Consultation
(or neonatology if at community hospital)
Obtain early in presentation
Supplemental Oxygen
See precautions regarding hyperoxygenation risks below
Unstable infants should be given initial
Supplemental Oxygen
regardless of underlying suspected cause
Suspect CHD if clinical status worsens with
Supplemental Oxygen
or grey, non-cyanotic infant (see above)
Reduce FIO2 to lowest setting that maintains adequate
Oxygen Saturation
85-90%
Lower FIO2 allows for greater pulmonary vascular resistance and greater systemic
Blood Flow
Intravenous Access
Obtain 2 IVs if
PGE-1
use is planned
Umbilical Vein Catheter
if unable to place other access
Undifferentiated Shock
or following
PGE-1
in cyanotic infants may require fluid bolus trial
Normal Saline
5-10 cc/kg bolus may be trialed and then recheck clinical status
Cardiac monitor as well as labs and diagnostics as above
Endotracheal Intubation
(if needed, especially after
PGE-1
)
RSI:
Fentanyl
1 mcg/kg and
Rocuronium
(avoid
Benzodiazepine
s)
Consider
Ketamine
for sedation in
Pulmonary Hypertension
(decreases pulmonary vascular resistance)
Consider
Atropine
for RSI premedication to prevent
Bradycardia
with intubation
Preoxygenation and
Apneic Oxygenation
during intubation is still recommended regardless of cardiac defect
Reduce FIO2 grey, non-cyanotic infant to maintain FIO2 85-90% (see above)
Administer
Prostaglandin E1
(
PGE-1
)
Indicated for suspected
Ductal Dependent Lesion
(most cases with
Cyanosis
or cardiovascular collapse)
Discuss with Pediatric cardiology, neonatology
Indicated for infant with severe
Hypoxia
(especially oxygen refractory) or shock
Do not administer without airway and respiratory management equipment at bedside (or intubated)
PGE-1
Low Dose (lower apnea,
Hypotension
,
Bradycardia
risks)
Load: 20 ng/kg/min (0.02 mg/kg/min) in 5% Dextrose
Maintenance: 10 ng/kg/min and titrate to effect every 15-20 minutes
PGE-1
High Dose (if patient intubated, refractory to low dose)
Load: 50 ng/kg/min (0.05 mg/kg/min) in 5% Dextrose
Titrated to effect every 15-20 minutes
Monitor clinical status after starting dose
Blood Pressure
, perfusion,
Capillary Refill
and urinary output
Cyanosis
and
Oxygen Saturation
Management
Ductal Dependent Lesion
s
Distinguishing ductal dependent pulmonary versus ductal dependent systemic flow is critical to driving management
Hypotension
following
PGE-1
is common and should be anticipated
Choosing the wrong agent (i.e. pressor in coarctation) can have lethal consequences
Ductal dependent pulmonary
Blood Flow
(cyanotic heart disease, blue baby)
Presents with
Cyanosis
, severely decreased
Oxygen Saturation
(e.g. 40%) and a normal
Chest XRay
Prostaglandin E1
(
PGE-1
) maintains an open PDA
Hypotension
(occurs with
PGE-1
, requires 2 IV/IO)
Phenylephrine
(or
Epinephrine
,
Norepinephrine
,
Dopamine
)
Increases systemic
Afterload
, shunting blood to the pulmonary circulation
Consider fluid challenge of
Normal Saline
5-10 cc/kg
Ductal dependent systemic
Blood Flow
(acyanotic heart disease, gray baby)
Presents with pink, non-cyanotic with shock, poor perfusion,
Hypotension
and
Tachycardia
Systolic
Blood Pressure
is significantly higher in arms then legs (in range of 40 mmHg difference)
Chest XRay
may show
Congestive Heart Failure
Prostaglandin E1
(
PGE-1
) maintains an open PDA
Treatment goal is
Afterload
reduction
Hypotension
(occurs with
PGE-1
, requires 2 IV/IO)
Milrinone
(preferred)
Dobutamine
(second-line alternative)
AVOID
Vasopressor
s (e.g.
Phenylephrine
,
Epinephrine
,
Norepinephrine
)
Risk of worsening an already critical
Aortic Coarctation
resulting in
Cardiac Arrest
References
Sloas, Checchia and Orman in Majoewsky (2013) EM: Rap 13(9): 8
Management
Congestive Heart Failure
See
Pediatric Congestive Heart Failure
Precautions
Acute presentation of Congenital Heart Disease
Permissive
Hypoxia
(85-90%
Oxygen Saturation
) maintains a
Patent Ductus Arteriosus
Allows for compensation prior to definitive management
Avoid hyperoxygenating to 100%
Oxygen Saturation
in suspected new presentation of Congenital Heart Disease
Risks closure of the ductus arteriosus during the initial evaluation and management
Oxygen Saturation
of 85% may be target in these patients (base target on local
Consultation
)
Prevention
Children with Congenital Heart Disease
Annual Influenza
Vaccination
Pneumococcal
Vaccination
SBE Prophylaxis
Prevention
Screening for Congenital Heart Disease in the newborn nursery
Protocol suggested as part of routine well
Newborn Exam
Obtain preductal (right arm) and postductal (left leg) before newborn discharge home
Post-ductal
Oxygen Saturation
is effective screening
Test Sensitivity
: 60%
Test Specificity
: 99.95%
Koppel (2003) Pediatrics 111:451-5 [PubMed]
Prognosis
Serious causes of CHD account for 25% of the roughly 40,000 cases in the U.S. per year
Of these serious causes (~10,000 cases/year in U.S.), 25% do not survive beyond first birthday
Complications
Post-Cardiac Repair
Background
Congenital Heart surgical repairs include
Norwood Procedure
, Glenn Procedure,
Fontan Procedure
, BT Shunt
These repairs have allowed children to survive CHD that would otherwise be fatal
However, the repairs re-route blood to mimic physiologic flow, but these hearts have unique physiology
Homeostasis is an easily disrupted tight balance between
Preload
dependence and
Cardiogenic Shock
Consult Cardiology in all cardiopulmonary presentations and new medications with possible hemodynamic effects
Pulmonary Hypertension
Present in most patients with Congenital Heart Disease who have undergone repair
Chronic
Hypoxia
(baseline 90-92%
Oxygen Saturation
)
Hypoxia
at baseline is often present after surgical repair
Cardiac repairs often result in venous and arterial admixture by design
Dysrhythmia
s
Cardiac surgical scars increase risk
Thrombosis risk
Repairs often leave patients with grafts and synthetic shunts that are thrombogenic
Infection
Responsible for 3.4% of deaths following Congenital Heart Disease surgery
Right to left shunt increases the risk of unfiltered microbes in systemic circulation (including
CNS Infection
)
References
Shoenberger and Saade in Herbert (2019) EM:Rap 19(12): 2-3
McCracken (2018) J Am Heart Assoc 7(22):e010624 +PMID: 30571499 [PubMed]
Resources
CDC: Congenital Heart Disease Statistics
http://www.cdc.gov/ncbddd/heartdefects/data.html
References
Civitarese and Crane (2016) Crit Dec Emerg Med 30(1): 14-23
Joseph and Webb (2015) Crit Dec Emerg Med 29(1): 10-8
Cyran (1998) PREP review lecture, October, Phoenix
Fuchs and Yamamoto (2012) APLS, Jones and Bartlett, Burlington, p. 140
Saenz (1999) Am Fam Physician, 59(7):1857-66 [PubMed]
Frank (2011) Am Fam Physician 84(7): 793-800 [PubMed]
Ford (2022) Am Fam Physician 105(3): 250-61 [PubMed]
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