Download Critical Congenital Heart Disease

Critical Maybe Cyanotic
Congenital Heart Disease
B. Seth Goldstein, M.D.
Pediatric Care Conference VI
Dell Children’s Hospital
Austin, TX
Goals
• Define cyanosis
• Discuss normal oxygen saturation vs. cyanotic oxygen
saturation and how it relates to pulse-ox screening
recommendations
• Discuss how congenital heart defects lead to low
saturation
• Detail complex and obstructive congenital heart
defects (target defects for pulse-ox recommendations)
Critical vs. Cyanotic
Department of Health and Human Services
1st AAP recommendation “Critical Cyanotic Congenital Heart Disease” (2010)
“….identify those newborns with structural heart defects usually associated with
hypoxia in the newborn period that could have significant morbidity or mortality
early in life …”
2nd AAP recommendation “Critical Cyanotic Congenital Heart Disease” (2011)
“…important to recognize that many newborns with the targeted congenital heart
defects do NOT develop clinically appreciable cyanosis …and some lesions…may
present with significant cardiovascular compromise without apparent cyanosis.”
“CRITICAL CONGENITAL HEART DISEASE”
Kemper et al. Pediatrics. 2011
“LET US TALK ABOUT CYANOSIS”
“What’s cyanosis?”
“I have no clue”
Cyanosis
1990s HEAVY METAL
Root : “cyan”
“osis”- abnormal condition or abnormal increase
Neonatal Cyanosis
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Airway disease: transient tachypnea of the newborn (TTN), respiratory distress syndrome (RDS), pneumonia,
aspiration (meconium, blood, amniotic fluid), atelectasis, diaphragmatic hernia, pulmonary hypoplasia, pulmonary
hemorrhage, CCAM
Intracardiac: The 5 T’s: Tetralogy of Fallot, Tricuspid atresia, Transposition of the great arteries, Total anomalous
pulmonary venous return, Truncus arteriosus; and pulmonary atresia, Ebsteins anomaly (abnormal tricuspid
valve), hypoplastic left heart
Great vessel level: persistent pulmonary, hypertension of the newborn
Intrapulmonary level: pulmonary arteriovenous malformation
Alveolar Hypoventilation
CNS depression: asphyxia, maternal sedation, intraventricular hemorrhage, seizure, meningitis, encephalitis
Airway obstruction: choanal atresia, laryngomalacia, Pierre Robin syndrome
Neuromuscular disease: phrenic nerve inury, neonatal myasthenia gravis
Diffusion Impairment
Pulmonary edema: left-sided obstructive cardiac disease (aortic stenosis), cardiomyopathy
Pulmonary fibrosis
Decrease Hemoglobin O2 affinity
Methemoglobinemia (congenital, drugs)
Decrease Peripheral circulation (peripheral cyanosis)
Sepsis, shock of any cause, polycythemia, hypothermia, hypoglycemia, low cardiac output (hypocalcemia,
cardiomyopathies, etc)
Cyanosis
• Definition
– Miriam-Webster: a bluish or purplish discoloration of
the skin due to deficient oxygen in the blood
– Wikipedia: the appearance of a blue or purple color of
the skin or mucous membranes
– “…visually perceptible change in skin color when
reduced hemoglobin exceeds 3g/dL”
(Uptodate: Overview of cyanosis in the newborn)
Cyanosis
How does this relate to the
screening recommendations?
STRATEGIES FOR IMPLEMENTATION OF PULSE OXYIMETRY SCREENING
Kemper A R et al. Pediatrics 2011;128:e1259-e1267
©2011 by American Academy of Pediatrics
What is a normal neonatal oxygen
saturation at 24 hours of life?
2011 Screening Recommendations
• <90% - Fail
• <95% X 3 – Fail
• >3% difference in arm and leg X 3 – Fail
(AAP/SACHDNC)
NORMAL > 95%
IMPORTANT SLIDE
• NORMAL OXYGEN SATURATION
> 95%
• CYANOTIC OXYGEN SATURATION
< 85%
(total reduced Hb > 3g/dl of blood)
85%
CYANOTIC
86 87 88 89 90 91 92 93 94
95%
NORMAL
Are There Congenital Heart Diseases
that Can Present with:
1. Oxygen saturation 85-95%?
AND
2. No other physical exam features of cardiac
issues (tachycardia, tachypnea, poor perfusion, cyanosis)?
DEFINITELY!!
WHAT ARE THEY?
Target Heart Defects for Screening
• 7 Total
– Hypoplastic left heart syndrome
– Pulmonary atresia
– Tetralogy of Fallot
– Total anomalous pulmonary venous return
– Transposition of the great arteries
– Tricuspid atresia
– Truncus arteriousus
Target Heart Defects “Nother ones”
– Critical aortic stenosis
– Coarctation of aorta
– Critical pulmonary stenosis
Target Heart Defects for Pulse Ox Screening
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Hypoplastic left heart syndrome
Pulmonary atresia
Tetralogy of Fallot
Total anomalous pulmonary venous return
Transposition of the great arteries
Tricuspid atresia
Truncus arteriousus
Critical aortic stenosis
Coarctation of aorta
Critical pulmonary stenosis
Why are these defects
desaturated/cyanotic?
Components for normal oxygen saturation
Oxygen
RBCs/Hb
Blood volume
Reasons for Low O2 Sat
• LOW OXYGEN
– Pulmonary disease, Cardiac disease
• LOW RED BLOOD CELLS/HEMOGLOBIN
– Anemia
• LOW BLOOD
– Bleeding, Cardiac disease
Congenital Heart Lesions - Low O2 Sat
• LOW OXYGEN
– Enough blood, just not enough oxygen in the blood
COMPLEX CARDIAC LESIONS = MIXING LESIONS
• LOW BLOOD
– Enough oxygen, just not enough blood flow
OBSTRUCTIVE CARDIAC LESIONS
• COMBINATION
Congenital Heart Lesions and Low O2 Sat
Complex Lesions
Tricuspid atresia
Truncus arteriosus
TAPVR
HLHS
Transposition of great arteries
Tetralogy of Fallot
Pulmonary atresia
CAN BE OBSTRUCTIVE
Obstructive Lesions
Right-sided
Left-sided
Pulmonary atresia
Critical pulmonary stenosis
Tetralogy of Fallot
HLHS
Critical aortic stenosis
Coarctation of aorta
PDA DEPENDENT
CIRCULATORY
COLLAPSE
What does PDA stand for?
PDA
• Connection between main pulmonary artery
and descending aorta
• Fetus
– Permits flow to be diverted away from high
resistance pulmonary to descending aorta
lower body
PDA = Taking the low road…
Closure of PDA
• Commonly occurs within 12 hours after birth
• Almost always within 24-48 hours after birth
Lose blood flow
Saturations decrease
Pulmonary Atresia
• One of the more common causes of neonatal cyanotic
heart disease (along with critical pulmonary stenosis
and TGA)
• Pulmonary valve is imperforate/atretic
– Membranous
– Muscular
• Two separate entities
A) Intact ventricular septum
B) VSD
Normal
Pulmonary Atresia
Critical Pulmonary Stenosis
Definition:
1. Narrowing is severe enough to cause a
decrease in right ventricular output
2.
PDA dependent pulmonary blood flow
– Right ventricle can be hypoplastic due to severe hypertrophy
– Cyanosis due to:
» Decrease pulmonary blood flow
» Right to left blood flow across PFO
Critical Pulmonary Stenosis
Hypoplastic Left Heart Syndrome
(HLHS)
• 1.5-4% of congenital heart disease
• ≈20% of cardiac deaths during first week of life
• May be associated with genetic syndromes
– Turner syndrome
– Noonan syndrome
• Features
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Mitral valve: stenotic or atretic
Left ventricle: hypoplastic
Aortic valve: stenotic or atretic
Aortic arch: hypoplastic
Hypoplastic Left Heart Syndrome
Critical Aortic Stenosis
• Most patients with congenital aortic valve
stenosis are asymptomatic
• Infancy: closure of ductus leads to circulatory
collapse
– Poor feeding
– Tachypnea
– Poor perfusion
Coarctation of Aorta
• Discrete stenosis of the proximal thoracic aorta
• Point of insertion of PDA
• Malformation of aortic wall that creates a posterior shelf
• Affects 30-40% Turner Syndrome
• As PDA closes, entire cardiac output must cross the stenotic
aortic segment
• Often presents as CHF and shock
Coarctation of the Aorta
COMPLEX CARDIAC ANATOMY (MIXING LESIONS)
Tricuspid atresia
Truncus arteriosus
TAPVR
Transposition of great arteries
Tetralogy of Fallot
Tricuspid Atresia
• Congenital atresia of the tricuspid valve
• No communication from right atrium to right
ventricle
• Features
– Hypoplastic right ventricle
– VSD
Tricuspid Atresia
Truncus Arteriosus
• Single arterial trunk exits from the heart
• Absence of part of ventricular septum = VSD
• Strongly associated with 22q11 chromosomal
microdeletion (Digeorge Syndrome)
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Type I
Type II
Type III
Type IV
Truncus Arteriosus
DiGeorge Syndrome
Total Anomalous Pulmonary Venous
Return (TAPVR)
• Pulmonary veins do not drain to the left atrium
• Supracardiac
– Left inominate vein
– Right SVC
• Cardiac
– Coronary sinus
• Infracardiac
– Portal vein (obstructed)
• Mixed
TAPVR
Transposition of the Great Arteries
(TGA)
• 5-7% of all congenital cardiac malformations
• Normal: Aortic root from LV and is posterior and leftward of the
main pulmonary artery (MPA)
• TGA: Aortic root from RV
– anterior and rightward to MPA
– directly to right of MPA (side-by-side great arteries)
– directly in front of MPA (anterior-posterior relationship)
• Coexisting anomalies
– VSD
– Abnormal coronaries
Transposition Physiology
HOW DO WE GET OXYGENATED BLOOD TO THE BODY?
Transposition of the Great Arteries
Transposition of the Great Arteries
Coexisting Anomalies
Tetralogy of Fallot
• The most common cyanotic congenital heart defect
• 6-7% of all congenital heart disease
• Features
– VSD
– Pulmonary obstruction
– Overriding aorta (overriding the VSD)
– Right ventricle hypertrophy
VENTRICULAR SEPTUM
NOT ALIGNED CORRECTLY
Tetralogy of Fallot
VENTRICULAR SEPTUM
“MALALIGNED”
Tetralogy of Fallot
Tetralogy of Fallot
The Case of the “PINK TET”
The Case of the “PINK TET”
I PASSED MY PULSE OX SCREEN!!!!!
CRITICAL?
What Do I Want you to Get From This?
• What is a normal newborn oxygen saturation?
> 95%
• Typically how low is the oxygen saturation of a
cyanotic neonate?
< 85%
• Does all critical congenital heart disease
present with cyanosis?
You better not say yes!
Lets End with Statistics
• Congenital Heart Disease
– Most common birth defect
– Nearly 40% of all deaths caused by congenital
anomalies
• Critical Congenital Heart Disease
– 0.3% of all live births (3/1000)
Lets End with Statistics
• Worldwide: 131,000,000 births (2010)
– 384,000 births/day
– 1100 births/day with critical congenital heart disease
• United States: 3,999,386 births (2010)
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11,000 births/day
33 births/day with critical congenital heart disease
• Travis County: 16,500 births (2008)
– 45 births/day
– 0.135 births/day with critical congenital heart disease
• 1 birth every 7.4 days (a kid a week)
• 50 kids/year
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http://www.cdc.gov/nchs/fastats/births.htm
http://www.austintexas.gov/department/health