Initially by Tim Slesnick 6/04

Most recently revised 2/08

GoalsReview both fetal and neonatal cardiac physiologyUnderstand what murmurs are, how they occur,

and how to describe themDiscuss several types of congenital heart disease

and how to distinguish them Review common genetic syndromes and their

associated heart defects

Differences in the FetusForamen OvaleDuctus ArteriosusRight heart is the dominant ventricle – pumps 2/3 of

cardiac output Relative RVH in utero

Differences in the Fetus

Differences in the Fetus

Changes after BirthPulmonary Vascular Resistance begins to fall

immediatelyForamen Ovale closes – within the first hourDuctus Arteriosus closes – up to 48 hours can be

normalLeft heart now the dominant sideProcess continues for up to 6-8 weeks

Cardiac EvaluationHistoryExam:

InspectionPalpationAuscultation

HistoryPrematurityMaternal pregnancy complications (DM, PIH,

infections, teratogen exposure)Abnormal ultrasoundsFamily history of congenital heart disease

HistoryInfants symptoms:

TachypneaDiaphoresisFatigueCyanosis

Especially if any symptoms with feeding (exercise for babies)

Physical exam – inspection and palpationInspection

Chest symmetric, normal shapeOther systems (dysmorphic, edema, cyanosis, clubbing)

PalpationPMIThrills (palpable murmurs)Pulses (brachial and femoral)

Cardiac Exam – AuscultationRate and rhythmHeart soundsExtra soundsMurmurs

What is a heart murmur?Results from turbulent blood flow, typically from the

pressure difference between adjacent cardiac structures

Can be normal (physiologic, benign, flow, transitional, etc) vs abnormal (pathologic)

Most (80%) children will have soft murmurs in the perinatal period

MurmursLocationRadiationTiming (systolic, diastolic, continuous)Intensity (1-6 systolic, 1-4 diastolic)Pitch (high frequency [diaphragm better] vs low

frequency [bell better])Quality

Benign MurmursPulmonary flow (LUSB, soft)Peripheral pulmonary branch stenosis (axillae, back)Neonatal Still’s murmur (LLSB, “vibratory” or

“musical”)Venous hum (continuous, under either clavicle but R

more often than L)

Murmur Age Timing Location Character

Pulmonary Flow

Newborns early systole LUSB Medium to low pitch

PPBS Newborns Mid-systole R or L mid sternal, radiates to back and axillae

Med-high frequency

Still’s Newborns, >50% 2 -7yo

Early-mid systole, short murmur

LUSB Musical, vibratory, buzzing

Venous Hum

> 50% young children

Continuous, louder in diastole

Infra-clavicular

Blowing, low frequency

Murmur Increases Decreases Cause Confused with

Pulmonary Flow

↑ CO ↓COWith valsalva

Vibration at RVOT

Pulmonary stenosis,ASD

PPBS ↑ CO ↓CO Relative PS at 90º bifurcation of PA

PS, ASD, LPA or RPA stenosis, coarctation

Still’s ↑ CO(lying down, fever)

Sitting up ?vibration at LVOT

VSD, AS, LVOT obstruction, HCM

Venous Hum

Standing Turning head toward side listening to

Turbulent flow in venous system

Pulmonary AVM, PDA, breath sounds

RED FLAGSDiastolic murmurs (only venous hum is OK)

Continuous murmurs (PDA should be gone by 48 hours)

Loud murmurs + thrillsSYMPTOMS, especially cyanosis

Pathologic murmursCaused by abnormal anatomy or communications

and the turbulent blood flow through themTypically from problems with valves (pulmonic

stenosis, aortic stenosis), narrowings (coarctation) or holes where they shouldn’t be (VSD, ASD, PDA)

Acyanotic Heart DiseaseVSD

May not hear at birth until PVR dropsTypically holosystolic (engulfs S1 and S2)Typically loudest LLSBMay have a thrillLouder murmurs are typically smaller holes (greater

pressure difference)

Acyanotic Heart DiseasePatent Ductus Arteriosus

Continuous, “machine like” murmur

Best under L clavicleShould disappear by 48

hours

Acyanotic Heart DiseaseCoarctation of the aorta

Often can’t appreciate until ductus arteriosus closes, then rapid detioration

Systolic ejection murmur best LUSB and over back

Decreased femoral pulses

Cyanotic Heart DiseaseMost infants with cyanotic heart disease are cyanotic

at birth, so shouldn’t be in Level IICheck mucous membranes, nailbeds, etc (all infants

can get perioral vascular congestion which isn’t real cyanosis)

Caused by shunting of blood from the right to the left (deoxygenated blood)

The 5 “Terrible T’s”

Truncus ArteriosusOnly one vessel coming

off the ventricles

Transposition of the Great Arteries

Aorta off the RV, Pulmonary artery off the LV

Must have mixing (ASD, VSD, PDA) or incompatible with life

“Egg on a string” x-rayOften no murmur

Tricuspid Atresia (and Ebstein’s)

Tricuspid valve is closed (atresia) or displaced and dysfunctional (Ebstein’s)

HUGE heart on x-ray (mainly right atrium)

Tetralogy of FallotVSDOverriding aortaRight ventricular

hypertrophyPulmonary stenosis“Boot shaped heart” on x-

rayMurmur is from pulmonic

stenosis, not from VSD

Total Anomalous Pulmonary Venous Return (TAPVR)

Pulmonary veins come back somewhere besides the left atrium

If obstructed, is the only pediatric cardiac surgical EMERGENCY

CXR is “snowman in a snowstorm”

“Terrible” hypoplastic left heart syndrome

Spectrum of disease, extreme form has almost no left ventricle, mitral atresia, aortic atresia, coarctation of the aorta

As PDA closes, no blood to body – incompatible with life

Often very non-specific physical exam, CXR

SVT

Vtach

Genetic syndromes associated with CHD

Trisomy 13PDA, septal defects, pulmonic and aortic stenosis

Trisomy 18VSD, polyvalvular disease, coronary abnormalities

Trisomy 21 – 45% have heart defectAV canal, VSD, PDA, anomalous subclavian artery All need echo

More Syndromes

Turner (XO)30% bicuspid aortic valve; 10% coarctation

Noonanpulmonary valve stenosis, ASDHypertrophic cardiomyopathy in 20%

DiGeorge/ VCF/ 22q11Interrupted aortic arch, right aortic archtruncus arteriosus, tetrology of Fallot, pulmonary

atresia with VSD

And more syndromes!

Marfan: dilatation of ascending aorta/ aortic sinus, aortic and

mitral insufficiency VACTERL:

VSD in majority of casesWilliams:

supravalvular aortic stenosis, pulmonary artery stenosis

More syndromes again…

Ellis-van Creveld: ASD or single

Fetal Alcohol Syndrome: VSD

Holt-Oram: atrial and ventricular septal defects, arrhythmias

Last page of syndromes!

Pompe disease: (glycogen storage) cardiomyopathy

MPS: storage of MPS in arteries, valves w/ insufficiency and

stenosisHyperlipoproteinemia:

premature atherosclerosisFreidrich ataxia:

cardiomyopathyMuscular dystrophy:

myocardial degeneration and fibrosis

Key PointsNeonatal period, and particularly the first few days,

are a time of great changeMost murmurs are benign, but if its loud, harsh,

diastolic, or the infant has symptoms, be concerned1-2-3-4-5 cyanotic heart diseasesGenetic syndromes have commonly associated heart

defects

Any Questions

?