Screening +Physical Exam
What anomaly can cause abnormal pre/post ductal sats, upper extremity HTN, and diminished femoral pulses
Coarctation of the Aorta
Name the 2 normal structures in fetal circulation which shunt blood and what physiologic mechanisms cause them to close
1. Foramen ovale: Connects the right and left atria. Closes due to increased pulmonary venous flow as lungs expand→ increases left atrial pressures→ pressure b/w Rt & Lt heart normalizes→Close foramen ovale (functionally closes in hours; anatomic closes/fuses over months)
2. Ductus arteriosus: connects the pulmonary artery to the aorta. Closes due to increased oxygen concentration in blood after first breath → decreased prostaglandins → closure of DA in the first 10-15h of life
Can occur at any age but often murmur can be heard in first days-weeks
Harsh. Pan-systolic or early-mid systolic murmur.
Can have split- S2 or apical rumble. Best LLSB
VSD
What CHD is associated with boot shaped heart and decreased pulmonary- vascular markings on CXR
TOF
Name some chromosomal alterations which can be associated with congenital heart disease
Down syndrome/T21 (ASD + VSD)
Edwards syndrome/T18 (valvular disease, ASD, VSD)
Patau syndrome/T13 ( VSD, ASD, PD )
Turners/Monosomy X (coarctation, bicuspid aortic valve)
DeGeorge/22q11.2 (tetrology of fallot, peripheral pulmonary artery stenosis)
Williams/7q11.12 (aortic stenosis, peripheral pulmonary artery stenosis)
6-week old with poor feeding and minimal weight gain. Looks to be working harder to feed and is diaphoretic. + hepatomegaly on exam and crackles in the lungs. Does not appear cyanotic.
Name some ddx
Left-to-right shunting diseases (VSD, ASD, PDA)
1. What are the 2 broad categories physiologic categories for congenital heart disease?
2. Name some examples of each
Acyanotic: Tetralogy of Fallot, Transposition of the great arteries, Truncus arteriosus, Total anomalous pulmonary venous return, Tricuspid atresia, hypoplastic left heart syndrome
Cyanotic: VSD, ASD, PDA, coarctation, aortic stenosis, pulmonary stenosis
Harsh, crescendo- decrescendo, systolic murmur that is best heard RUSB
Can have ejection click at the apex that radiates to carotids.
Aortic Stenosis
Name 3 duct dependant disorders requiring exogenous prostaglandin infusion to keep ductus arteriosus open
HPLH, some TOF (if severe RVOT obstruction), critical AS, critical coarctation, pulmonary atresia
Which anti-epileptic medications are associated with congenital heart disease
-Carbamazepine, Valproic acid, phenobarb, and phenytoin are all catagory D risk meds and can be associated with ASD, VSD, tetralogy of Fallot, and pulmonary atresia. Increased risk usually highest with 1st trimester exposure
Valporic acid is highest risk and is also a/w HPRH
Which heart diseases can be picked up with newborn pulse ox. screening?
Screening is targeted toward diseases that 1. need intervention in the first year and 2. present with hypoxemia most of the time. Good "rule in" test but not a "rule out" test.
These include: HPLH, pulmonary atresia, tricuspid atresia, TOF, D-TGA, total anomalous pulmonary venous connection, ebstein anomaly, critical AS and PS. Sometimes picked up: coarctation (neg in 83%), severe AS (neg in 75%) and severe PS (neg in 35%)
What is the difference between restrictive and non-restrictive VSD
Restrictive: Small VSDs result in a relatively small left-to-right shunt, and keep a large LV-RV pressure gradient.
Nonrestrictive: Usually larger VSD's result in little or no pressure gradient, so LV + RV pressures are equalized.
Can be heard in the first 6 months.
Soft & blowing (grade 1–2/6) systolic murmur. Best at LUSB. Can radiate to both axilla and the back.
PPS
What is a normal newborn axis on ecg?
Name some conditions that can cause abnormal left axis deviation?
Usually right axis deviated. ~60-180 degrees
Left-axis deviation: atrioventricular septal defect and tricuspid atresia
Maternal use of this medication can be associated with Ebstein’s anomaly, pulmonary atresia, and severe tricuspid regurgitation
Lithium
Although the risk is thought to be less than once thought... roughly 1/2000
Fetal echo indicated between 16-20 weeks
What is the optimum fetal gestational age for structural heart abnormality screening
18-22 weeks
Basic fetal cardiac assessment should include 4-chamber view and visualize the outflow tracts
What is the patho of Coarctation of the Aorta
1. Narrowing of the aorta causes pressure overload in the arterial circulation proximal to the coarctation can lead to vent hypertrophy, HTN in upper extremities, & intracranial hemorrhage
2. Decreased perfusion distal to the coarctation= can cause malperfusion of intestines or abdo organs. Increase risk for sepsis. Overtime collateral circulation to lower body develops
Machinery-like murmur
Often continuous but peaks around S2
Best heard under left clavicle
Can have a thrill or suprasternal notch pulsation
PDA
At what age should PPS murmur resolve and what should the PCP do if the murmur does not resolve in expected timeframe?
Murmur should resolve by 3-6 months
If still noting the murmur after 6 months, further echo should be done to r/o underlying structural heart disease
Which maternal infection has the highest risk of developing CHD
Rubella
Infants presenting in cariogenic shock during the initial hospitalization are most likely to have what types of CHD?
Critical obstructive left heart diseases including HLHS, critical coarctation, critical AS, and interrupted aortic arch
Name the syndrome which causes a shunt reversal leading to the distribution of de-oxygenated blood to the systemic arterial circulation, causing hypoxia and cyanosis.
Eisenmenger's Syndrome
Can be associated with VSD, AVSD, PDA, ASD.
It is a complication of uncorrected large left-to-right shunts, which lead to severe pHTN, bidirectional shunting, and finally right-to-left shunting.
Best at LLSB (+/- apex). Most commonly 2-7 years old
Vibratory or musical systolic murmur
Can be positional
Stills murmur
In a baby with a diagnosed small VSD as a newborn, what is the outpatient management/follow-up strategy?
If murmur is no longer heard and baby is asymptomatic, no further echo is needed
If murmur is still heard but baby remains asymptomatic, can repeat an outpatient echo around 12 months.
What is the leading cause of acquired heart disease in paediatrics?
Kawasakis