common cardiac anomalies - learning stream...imperforate anus cause unknown, occurs 1 in every...
TRANSCRIPT
1/7/2020
1
MATERNAL/NEWBORN & NICU FELLOWSHIP
COMMON CONGENITAL ANOMALIESPresented by
Peg Peterson APRN
CONGENITAL-EXISTENCE AT OR BEFORE BIRTH
Congenital anomalies are also known as:• Birth Defects
• Congenital Disorders
• Congenital Malformations
Structural/Anatomical• Heart Defects
• Club Foot
• Cleft Lip or Palate
Functional•Metabolic Disorders
Chromosomal• Down’s Syndrome
KEY FACTS
•An estimated 303,000 newborns die within the first 4 weeks of birth every year, worldwide, due to congenital anomalies
•Congenital anomalies can contribute to long term disability, which may have significant impacts on families, individuals, health care systems and societies
•The most common severe congenital anomalies are heart defects, neural tube defects and Downs syndrome
•Congenital anomalies maybe the result of one or more genetic, infectious, nutritional, or environmental factor
•Difficult to identify the exact cause
1/7/2020
2
CAUSES AND RISK FACTORS
50% of all congenital anomalies cannot be linked to a specific cause
•Genetic Factors• Inherited genes that code for a specific anomaly
• Result of a mutation
• Consanguinity
• Increases genetic anomalies, doubles risk of neonatal and childhood death
• Ethnic
• Ashkenazi Jews and Finns-Cystic Fibrosis, Hemophilia C
• Socioeconomic Factors
•Environmental Factors
•Infections
•Maternal Nutritional Status
PREVENTION
Some congenital anomalies can be prevented•Vaccinations
• Congenital rubella
• Heart problems, microcephaly, premature birth, stillborn, miscarriage
•Adequate intake of folic acid• Neural tube defects
•Adequate iodine intake• Neural development
•Adequate antenatal care• STD treatment
• Pre-conception counseling
• Zika Virus
• Environmental chemicals/pesticides
• Work related
CONGENITAL HEART DEFECTS
•Occur in about 1 in 110 births
•An Anatomical Abnormality
•Prenatal Diagnosis•Cardiac development happens at 8 weeks gestation
•Defects are classified as Cyanotic/Non Cyanotic
•Most common anomaly is Ventral Septal Defect (VSD)
•28% of children with CHD have another recognized anomaly (trisomy 21, 13, 18)
•Children can become symptomatic any time in first year of life
1/7/2020
3
CONGENITAL HEART DEFECTS
Symptoms•Tachycardia
•Tachypnea
•Murmur
•Failed Congenital Heart Disease Screening
•Cyanosis
•Cool clammy skin
•Metabolic Acidosis
•Failure to Thrive
CONGENITAL HEART DEFECTS
Increased Pulmonary Blood Flow
• PDA
• ASD
• VSD * most common
• AV Canal
Decreased Pulmonary Blood Flow
• PS
• TOF
• TGV
• Truncus
Decreased Systemic
Blood flow
• AS
• HLHS
• CoA
Classification
of CHD
NORMAL HEART
1/7/2020
4
PATENT DUCTUS ARTERIOSUS (PDA)
Failure to close after birth (usually closes first 12 hours after birth)
Signs/Symptoms Asymptomatic is ductus small
Can present with murmur on day 3 – 4
Wide pulse pressures
Bounding pulses
Medical Management O2 administration closes the PDA
Assess for murmur on day 3 -4
Monitor pulses, fluid, and respiratory status
May need addition PEEP
Indomethacin, Ibuprofen
Surgical ligation
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
ATRIAL SEPTAL DEFECT (ASD)
Hole in the muscular wall (30% will close on their own within 6 months)
Signs/Symptoms Usually asymptomatic
May hear murmur
Wide pulse pressures
Bounding pulses
Medical Management Assess for murmur on day 3 -4
Monitor pulses, fluid, and respiratory status
Restrict fluids, increase calories
Treat CHF if developed (rare)
Surgical repair done at school age
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
VENTRAL SEPTAL DEFECT (VSD)
Hole between ventricles (*most common CHD)
Signs/Symptoms Asymptomatic is small
Produces left to right shunt
Murmur
May have signs of CHF and FTT
Medical Management Depends on severity
Digoxin / diuretics
Increased calories
Most close spontaneously at school age
Surgical repair if not spontaneously closed by school age
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
1/7/2020
5
ENDOCARDIAL CUSHION DEFECT (AV CANAL)
ASD, high VSD, and anomalies to tricuspid and mitral valves (may be partial or complete) 30 – 40% have Downs Syndrome
Signs/Symptoms
Murmur
FTT
CHF at about 4 -12 weeks
Medical Management
Treat CHF
Surgical repair at 3 – 6 months
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
PULMONARY STENOSIS (PS)
Obstructed RV outflow tract
Signs/Symptoms
Asymptomatic if mild
Murmur
Desaturations
Medical Management
Monitor pulmonary status
May require prostaglandins
Balloon valvuloplasty
Surgical repair at 1 – 4 years
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
TETRALOGY OF FALLOTCYANOTIC - DECREASED PULMONARY BLOOD FLOW
Four different defects (*most common cyanotic heart defect)
Signs/Symptoms 1/3 of infants are cyanotic (“pink” vs “blue”
depends on severity of PS
Harsh murmur
Increased RR, decreased pules, mottling of skin, polycythemia, metabolic acidosis
Often see boot-shaped heart on CXR
Medical Management Knee to chest position to increase SVR and venous
return
May require prostaglandins (‘blue” tets)
Surgical repair not before 6 months
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
1/7/2020
6
TRANSPOSITION OF GREAT ARTERIESCYANOTIC - DECREASED PULMONARY BLOOD FLOW
Most common cause of cyanosis in the newborn period (1:3300 US births)
Signs/Symptoms Will become symptomatic when ductus closes
(between 1 day – 1 week) *need mixing
50% do not have murmur
Cyanosis with crying
Tachypnea
CHF
Medical Management Prostaglandins
Monitor O2, too much will close ductus
Maintain NTE
Surgical repair done in first two weeks of life
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
TRUNCUS ARTERIOSUS (TA)
Persistence of fetal structure (single outlet). There is always a large VSD
Signs/Symptoms
May be cyanotic
CHF
Medical Management Monitor and treat CHF
Surgical repair
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
AORTIC STENOSIS (AS)
Obstruction of aortic valve (blood not getting out to the body)
Signs/Symptoms
Murmur
Decreased pulses
CHF
Medical Management
Monitor and treat CHF
May require immediate surgical repair
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
1/7/2020
7
HYPOPLASTIC LEFT HEART SYNDROMECYANOTIC - MIXED BLOOD FLOW
Includes varying degrees of MV atresia,
hypoplastic LV, AS, and hypoplasia of the aorta. (*most common cause of death from cardiac defects in the first month of life)
Signs/Symptoms
Murmur
Cyanosis, tachypnea, tachycardia, poor peripheral perfusion, metabolic acidosis
Medical Management
3 options – Norwood, transplant, or no treatment
Prostaglandins
3-stage surgical repair
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
COARCTATION OF THE AORTA (COA)
Narrowing of aorta (diminished blood to lower extremities)
Signs/Symptoms Murmur
Upper extremity BP greater than lower
Pulse discrepancies
Decreased urine output
CHF
Medical Management If suspected – 4 extremity BP
Prostaglandins
Monitor and treat CHF
May do balloon angioplasty
Surgical repair
UNIVERSITY OF MICHIGAN HEALTH SYSTEMS
CRITICAL CONGENITAL HEART DISEASE SCREENING (CCHD)
CCHD
•If baby is transferred back to M/B prior to 24 hrs of age, screening done by M/B
• In M/B – done between 36 – 48 hours of life
• In NICU – done prior to discharge
•Failed test needs echocardiogram
Screens for 7 different types of CHD
•Hypoplastic Left Heart Syndrome
•Pulmonary Atresia
•Tetralogy of Fallot
•Total Anomalus Pulmonary Venous Return
•Transposition of Great Arteries
•Tricuspid Atresia
•Truncus Arteriosus
1/7/2020
8
CRITICAL CONGENITAL HEART DISEASE SCREENING (CCHD)
Negative Screen NORMAL
•O2 saturation ≥ 95% in right hand and foot
and
•O2 saturation ≤ 3% difference between right hand and foot
No further follow needed
Positive Screen ABNORMAL
•O2 saturation < 90% in right hand and foot
•NNP to assess / PCP notified
• Echocardiogram ordered
If O2 sat 90% - 95% and > 3% difference – repeat screening 1 hour after initial screen
OMPHALOCELE
Failure of the intestine to return from the umbilical cord into the abdominal cavity
• Covered in thin sac
• 1:5500 - 800 per year in US
• Look for midline defects
Contributing Factors
• Alcohol/Tobacco/SSRI use
•Obesity
Medical Management
• Protect organs, decompression of the gut, adequate hydration
• Thermoregulation
• Surgical repair vs scarring of sac
OMPHALOCELE
1/7/2020
9
GASTROSCHISIS
Defect in abdominal wall allowing bowel outside of abdominal cavity
• Protrudes thru hole beside umbilicus
• 2000 cases in US a year
• Poor abdominal growth
Contributing Factors
Medical Management
• Protect organs, decompression of the gut, adequate hydration
• Thermoregulation
•May require staged repair depending on size of defect (silo)
GASTROSCHISIS
TRACHEOESOPHAGEAL FISTULA (TEF)
Failure of trachea to differentiate and separate from the esophagus
S/S
• Maternal polyhydramnios
• Need for frequent oral suctioning
• Inability to pass ng/og
• Choking, spitting, cyanosis
Medical Management
• At risk for aspiration pneumonia
• Endotracheal suctioning
• Surgical anastomosis
1/7/2020
10
TRACHEOESOPHAGEAL FISTULA (TEF)
DUODENAL ATRESIA
Absence or complete closure of a portion of the lumen of the duodenum
• 1 in 6,000 – 10,000 live births
• Nearly half are premature or low birth weight
• 60 – 70% have associated anomalies (trisomy 21, malrotation, TE, CHD, imperforated anus, VACTERL, renal anomalies)
S/S
• Maternal polyhydramnios (significant risk factor)
• Bilious vomiting
• Failure to pass meconium
• Double bubble on xray
Medical Management
•Gastric decompression (NG suction), hydration, management of electrolytes
• Surgical repair
DUODENAL ATRESIA
1/7/2020
11
IMPERFORATE ANUS
Cause unknown, occurs 1 in every 20,000 live births
• Broadly classified as high or low depending on relationship to the distal rectal pouch
•½ of babies have a fistula
Medical Management• Colostomy required for decompression
• Serial dilations for anal stenosis
• Surgical repair
• “Pull through” procedure at a year of age
CLEFT LIP AND PALATE
Anatomical abnormality at 7th week of gestation (cleft lip is the most common US isolated
defect). May be associated with syndromes
• 1 in 700 Caucasian babies, more frequent in Asian population, less frequent in African Americans
• More common in IDM/Tobacco abuse
• Valporic Acid use
Medical Management
• Surgical Repair of lip-3 months, palate repair 6-12 months
• Feeding difficulties most common problem
• Feed in sitting position
• Special bottles
• Breastfeeding slow to establish-pump and bottle feed until repair
• Speech Pathologist / Dental followup
CLEFT LIP AND PALATE
1/7/2020
12
CHROMOSOMAL BIRTH DEFECTSTRISOMY 21 / DOWN SYNDROME
TRISOMY 21
Most Common Multiple Congenital Anomaly Syndrome that is diagnosed in Neonatal period
• 1:650 live births
•Mortality linked to Congenital Heart
Disease/Leukemias
• 50% have CHD
• Hirschsprung’s Disease
• Imperforate Anus
• Atresias
TRISOMY 21
Clinical Presentation• Hypotonia
• Excess skin at nape of neck
• Flattened nose, upward slanting eyes
• Small ears and mouth
• Wide, short hands / fingers, Simian crease, wide space between first and second toes
• Separated joints between the bones of the skull
• Protrusion of tongue
• White spots on the colored part of eye
Medical Management• Feeding support
• Developmental and education support
1/7/2020
13
CHROMOSOMAL BIRTH DEFECTS
TRISOMY 13
•Most do not survive beyond 2 days (mean life expectancy is 130 days)
•Occurs 1:12,000 births
Clinical Presentation• Weak cry
• Microcephaly with sloping forehead
• Dysplastic ears, micrognathia
• Cleft lip/palate
• Single umbilical artery common
• Growth deficiency
• Overlapping and flexed digits
TRISOMY 18
•Most do not survive beyond 2 days (mean life expectancy is 48 days)
•Occurs 1:5,000 births
Clinical Presentation• Holoprosencephaly, microcephaly
• Small absent eyes, low set ears
• Cleft lip/palate
• Single umbilical artery common
•Growth deficiency
•Overlapping digits
• Club/Rocker bottom feet
GOMELLA, 2016
NEURAL TUBE DEFECTSMYELOMENIGOCELE
Spinal cord and meninges are exposed through the skin and onto the surface of the back• Occurs in about 1:2,000 births
• Prevents backbone from closing completely
• Folic acid has decreased incidence by half
Medical Management• C-section delivery
• Keep infant prone
• Thermoregulation
• Repair first 48 hours
NEURAL TUBE DEFECTS
MENIGIOCELE
•Protrusion of the meninges
•Fluid filled sac
•No nerve involvement
SPINA BIFIDA OCCULTA
•Gap in spine only
•Involves vertebral bone and is invisible
1/7/2020
14
MICROCEPHALY
Head circumference less than 3rd% for gestational age• Poor brain growth
• Can be isolated finding
• 2-12:10,000 US births
• Viral-TORCH
• Blood flow interruption
Complication• Seizures
• Developmental Delays
• Hearing/Vision
• Feeding problems
•Outcome depends on severity
HYDROCEPHALUS
Excess amounts of CSF in ventricles of brain (blockage, decreased reabsorption, increase production)
• 1 -2: 1,000 live births
• Dandy-Walker cyst / Arnold-Chiari Malformation
• Congenital infection (rubella)
S/S• Large head, widened sutures
• Full/ buldging fontanels
• Increasing head circumference
• Setting-sun eyes
Medical Management• Cranial ultrasound/ CT
• Careful positioning
• Shunt placement
• Serial taps
HYDROCEPHALUS
1/7/2020
15
REFERENCES
• Barfield, W. (2016) Late Preterm Infants. In Kim, M. (ed.), UpToDate. Retrieved from http://www.uptodate.com/home
• Karlsen, K., (2013). The s.t.a.b.l.e. program: guidelines for neonatal healthcare providers (6th ed). Salt Lake City, UT: Karlsen.
•Gardner, S. L., Carter, B. S., Hines, M. E. & Hernandez, J. A. (2016). Merenstein & gardner’s handbook of neonatal intensive care (8th ed.). St Louis, MO: Elsevier.
•Gomella, T., Cunningham, M. & Eyal, F. (2016) Neonatology: Management, procedure, on-call, problems, diseases, and drugs, 6th ed. New York, NY: The McGraw Hill Companies, Inc.
•Gomella, T. L. (2013). Neonatology: Management, procedures, on-call problems, diseases, and drugs (7th ed). New York, NY: McGraw Hill Education LLC.
•Verklan, M. T. & Walden, M. (2015) Core curriculum for intensive care nursing (5th ed). St. Louis, MO: Elsevier.
• http://www.marchofdimes.org/professionals/information-for-your-patients.aspx
• http://search.who.int/search?q=congenital+anomalies&ie=utf8&site=who&client=_en_r&proxystylesheet=_en_r&output=xml_no_dtd&oe=utf8&getfields=doctype