heart murmurs and congenital heart disease in pediatric patients

7/29/2019 Heart Murmurs and Congenital Heart Disease in Pediatric Patients

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Heart Murmurs and Congenital Heart Disease in Pediatric Patients

Heather M. Taylor, MD

You Hear a Heart MurmurNow What?

Step 1 Take a Good Historyo Prenatal history

Teratogens Lithium is associated with Ebstein anomaly (abnormality of the tricuspid valve

leading to tricuspid insufficiency and RV outflow tract obstruction).

Congenital heart disease is a component of fetal alcohol syndrome (VSD, ASD). Maternal illnesses

Infants of diabetic mothers have an increased risk of congenital heart disease(transient hypertrophic cardiomyopathy, tetralogy of Fallot, truncusarteriosus).

Overt and occult maternal collagen vascular disease is associated with fetalcomplete heart block.

TORCH infections Rubella and CMV congenital infections are associated with heart defects in

fetuses.

Prenatal US findings Abnormalities may have been diagnosed on prenatal ultrasound.

o Family history Congenital heart disease

Epidemiologic studies have suggested a multifactorial form of inheritance for amajority of cardiac defects, with recurrence risks of 1-4%.

Sudden cardiac death in persons


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Infantso Feeding intoleranceo Failure to thriveo Increased respiratory infectionso Cyanosis (usually only seen if the systemic arterial oxygen saturation is

less than 88%)o Rapid breathingo Sweating (especially with feeding, exertion)

Older childreno Chest pain (especially with exercise)o Syncope or near-syncopeo Dyspneao Fatigueo Palpitationso Exercise intolerance

Step 2 Pay Attention to the Vital Signso Growth Charts

Congenital heart disease is on the DDX of failure to thriveo Blood Pressure (should be taken in both arms and at least 1 leg)

Coarctation of the aorta is associated with a systolic BP 20mm Hg or more lower in thelegs than in the right arm (Note: if the patient has an open PDA, you may not see this

blood pressure difference.)

Pulse Pressure (the difference of systolic and diastolic pressures) Narrow pulse pressure (40mmHg) is associated with: conditions with increasedcardiac output (anemia, thyrotoxicosis) or with abnormal runoff of blood from

the aorta during diastole (patent ductus arteriosus or PDA, aortic

insufficiency).

o Pulse Coarctation is associated with difficult to palpate femoral pulses. PDA and aortic insufficiency are associated with bounding pulses. Tachycardia may be a neonates only way to increase cardiac output with their limited

ability to increase contractility or preload or decrease afterload.

o Respiratory rate and effort Looking for signs of congestive heart failure Tachypnea

o Oxygen saturation To detect subclinical cyanosis Can help differentiate cyanosis due to intracardiac shunting from that due to

pulmonary pathology

Differential oxygen saturation


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Higher O2 sat in upper extremities vs. lower extremities seen with right-to-leftshunt through open ductus arteriosus

Step 3 - Examo General appearance

Looking for syndromic features or signs of distress.o

Palpation of precordium Thrills are coarse low frequency vibrations occurring with loud murmurs and located in

the same areas as the maximal intensity of the murmur.

Increased precordial activity (hyperdynamic precordium) Commonly felt in patients with increased right or left ventricular stroke

volume.

Locate the point of maximal impulse (PMI) should be ~left mid-clavicular line.o Auscultation

High-pitched murmurs and S1, S2 are heard best with the diaphragm of thestethoscope.

Low-pitched murmurs and S3 are heard best with the bell. Listen with the patient sitting, reclining, and standing.

o Heart sounds S1

Associated with the closure of the mitral and tricuspid valves. Can be timed by simultaneously feeling the carotid or femoral pulse while

listening to the heart; the sound heard when the pulse is felt is S1.

Will be loud in patients with fever, anemia, mitral stenosis, systemichypertension.

The individual components are usually indistinguishable, so the 1st heart soundis single. (Exception is complete right bundle branch block where tricuspid

valve closure is delayed.)

S2 Associated with the closure of the aortic and pulmonic valves. There is a normal physiologic split of S2 heard on inspiration; it becomes single

on expiration.

o During inspiration, there is a decrease in intrathoracic pressure thatpermits an increase in venous return to the right atrium. This

increased blood in the right atrium prolongs right ventricular systole

and delays pulmonic valve closing.

Abnormalities in S2o Wide split S2

The normal physiologic split S2 can be accentuated byconditions that cause abnormal delay in pulmonic valve

closure.

Increased volume in the RV compared with the leftventricle (ASD, VSD)


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Chronic right ventricular outflow tract obstruction(pulmonary stenosis)

Delayed right ventricular activation (complete RBBB)o Single S2

Usually indicates that one of the semilunar valves is atretic orseverely stenotic.

Also single in truncus arteriosus or whenever the pulmonarypressure exists at systemic levels.

o Loud S2 Usually indicative of pulmonary hypertension, which can be

seen in patients with large left-to-right shunts.

Ejections sounds or clicks High frequency clicking sounds. Produced when blood is ejected from the right or left ventricle either through

a stenotic valve or into a dilated chamber.

o Heart Murmurs Location

Valve area where the murmur is heard the besto Upper right sternal border (2nd intercostal space to right of sternum;

aortic valve)

o Upper left sternal border (2nd intercostal space to left of sternum;pulmonic valve)

o Lower left sternal border (tricuspid valve and ventricular septum)o Apex (mitral valve)

Loudness (intensity) I heard after the listener tunes in II Heard immediately, but faint III Loud, but without a thrill IV Loud with a thrill V Loud with a thrill and audible with the stethoscope tilted on the chest VI Loud with a thrill and audible with the stethoscope off the chest

Quality Blowing, harsh, soft, musical, vibratory

Timing Systolic (between S1 and S2) or diastolic (between S2 and S1)

Radiation


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Murmurs originating from the aortic outflow area radiate toward the neck andinto the carotid arteries.

Murmurs originating from the pulmonic outflow area are transmitted to theleft upper back.

Mitral murmurs are transmitted toward the cardiac apex and the left axilla.o

Systolic murmurs Possible causes:

Blood flow across an outflow tract (pulmonic stenosis, aortic stenosis,hypertrophic subaortic cardiomyopathy)

VSD, ASD Atrioventricular valve regurgitation (mitral or tricuspid insufficiency) PDA Coarctation of the aorta

Types of systolic murmurs: Holosystolic murmurs

o VSD, mitral insufficiency, tricuspid insufficiency, PDA Systolic ejection murmurs

o ASD, VSD, aortic stenosis, pulmonary stenosis, hypertrophic subaorticcardiomyopathy, coarctation of the aorta

o Diastolic murmurs Possible causes:

Aortic or pulmonic valve insufficiency Mitral or tricuspid valve stenosis

o Normal functional (innocent) murmurs in children Characteristics:

Normal S1, S2 Normal heart size Lack of significant cardiac symptoms Grade III/VI or less Located in a small, well-defined area Systolic or continuous

Stills murmur Thought to originate from turbulent outflow from narrow areas of left

ventricular output.

Soft, low-pitched, vibratory systolic ejection murmur that is heard betweenthe mid-to-lower sternal border and the apex with limited radiation.

Heard best in the supine position and decreases in intensity when the patientstands.

Heard in 75-85% of school-aged children. Differential diagnosis includes VSD, LV outflow tract obstruction these

pathologic murmurs are usually of higher intensity and do not decrease with

standing.


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Pulmonary flow murmur Also known as a pulmonary ejection murmur. Thought to originate from turbulent outflow from narrow areas of the right

ventricular output.

Soft, low to medium-pitched systolic ejection murmur heard in the left uppersternal border.

Diminishes in intensity with standing. Found in children, adolescents, and young adults. Most common between the ages of 8 and 14. Differential diagnosis includes ASD and pulmonic stenosis these pathologic

murmurs will have associated abnormalities in S2 (wide or fixed split S2) and

an ejection click (pulmonic stenosis).

Peripheral pulmonary stenosis (PPS) Also called physiologic branch pulmonary artery stenosis. Originates from relative hypoplasia of right and left pulmonary artery

branches.

Heard in most premature neonates and in many term infants. Soft, medium to high-pitched systolic flow murmur best heard in the axillae

and back (also heard at the left upper sternal border).

Should not persist after 6 months of age. Differential diagnosis includes pulmonic stenosis (associated S2 abnormalities

and ejection click).

Venous hum Caused by the flow of venous blood from the head and neck into the thorax. Continuous murmur heard best in the right infraclavicular area. Louder in diastole. Heard best with the patient sitting; should disappear when the child reclines,

when light pressure is applied over the jugular vein, or when the childs head is

turned away from the side of the murmur.

Heard in children ages 3-6.o Other important exam findings related to evaluation of cardiac pathology

Hepatomegaly (seen with right heart failure) Clubbing (seen with chronic cyanosis)

So When Do You Worry?

Red Flag on Historyo Risk factor, symptomatic

Red Flag in Vital Signs Heart Murmur that is:

o Loud


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o Holosystolic, late systolic, or diastolico Does not decrease in intensity with standingo Associated with abnormalities in S1 or S2 or ejection clicko Associated with other exam abnormalities (displaced PMI, pulse differential, hyperdynamic

precordium, HSM, clubbing, respiratory distress)

Congenital Heart Lesions to Know

Ventricular Septal Defecto The most common congenital heart defect, making up 25-30% of cases of congenital heart

lesions in term newborns.

o Usually occur as isolated abnormalities, but can occur with other congenital cardiacabnormalities.

o At birth, a majority occur in the muscular septum and usually close spontaneously before age1.

After 1 year, the majority of VSDs occur in the membranous septum.o Symptoms

Most symptoms with large VSDs and large shunts will occur in term infants 4-8 weeksof age and will consist of symptoms of volume overload and heart failure.

o Exam Findings Will present with a harsh, holosystolic murmur heard best at the lower sternal border

with radiation through the precordium.

If pulmonary hypertension develops (because of a large left-to-right shunt), thepulmonic component of the 2

ndheart sound will increase in intensity and there will be

evidence of cardiomegaly and increased proximal pulmonary vasculature markings onchest xray.

Atrial Septal Defecto Can be further classified as ostium secundum and ostium primum defects.

Ostium secundum ASD Most common form of ASD. Located in the mid-septum. Normally isolated lesions that can are usually small. Symptoms

o Most are asymptomatic and it is very unusual for these patients topresent with cardiac failure; pulmonary hypertension can occur but it

is usually not until 20-30 years of age.

o Other symptoms seen in adults include arrhythmias (usually atrialfibrillation/flutter) and embolic strokes.

Exam findingso Long, systolic crescendo-decrescendo murmur heard best at the upper

left sternal border.


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The murmur is not due to the ASD, but the increased flowacross the right ventricular outflow tract and pulmonic valve.

o Wide, fixed, split S2 Treatment

o Usually closed surgically within 5 years after diagnosis to prevent latercomplications in adulthood.

o These patients do not need endocarditis prophylaxis. Ostium primum ASD

Located in the lower portion of the atrial septum in the region of the mitraland tricuspid valve rings.

Is a form of AV canal defect, often called a partial AV canal defect. Usually a very large defect with the anterior mitral valve leaflet displaced as a

result.

Symptomso If a large shunt is present, these patients can develop pulmonary

hypertension with heart failure. Exam findings

o Right ventricular outflow murmur, a tricuspid valve mid-diastolic flowmurmur, and a widely spit S2.

Treatmento These patients need endocarditis prophylaxis.o Surgically corrected early in childhood.

Coarctation of the aortao Develops from a defect in the media of the aorta that causes a posterior infolding of the

vessel.

o If the obstruction is severe, it can present as congestive heart failure in newborns (thesepatients will look a lot like the infants with severe aortic stenosis with diminished pulses and

shock-like appearance).

o It usually presents in otherwise asymptomatic older children and young adults during a work-up of hypertension or a murmur.

o Exam findings include a systolic murmur heard best in the back (at the left scapular angle),hypertension in upper extremities, and absent or difficult to palpate femoral pulses.

Aortic Valve Stenosiso Almost all (>85%) cases of congenital stenotic aortic valves are bicuspid.o Symptoms

The infant with severe aortic stenosis will present in the 1st week of life with poorperfusion and diminished peripheral pulses.

In milder cases of aortic stenosis, the patients are usually asymptomatic initially (willcompensate by developing left ventricular hypertrophy to maintain cardiac output),

but can become symptomatic as the stenosis progresses.

o Exam findings Crescendo-decrescendo, harsh systolic murmur heard best at the right upper sternal

border, often with an early ejection click.


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Narrow pulse pressure Can have paradoxical splitting of the 2nd heart sound (you hear the split in S2 during

expiration instead of inspiration).

o Treatment These patients need endocarditis prophylaxis. Balloon valvuloplasty is the treatment of choice in children; ~40% need repeat

treatment within 10 years for restenosis.

Surgical treatment includes mechanical valve replacement and the Ross procedure. In the Ross procedure, the pulmonary valve ring is moved into the aortic valve

area and a homograft is used to replace the pulmonary valve.

Endocardial Cushion Defect or Complete AV Canal Defecto Involves a defect in the development of the endocardial cushions, resulting in a large hole

communicating between the atria and ventricles, as well as malformation of the tricuspid and

mitral valves.

The anterior and posterior segments of each leaflet join each other through the defectresulting in a common AV valve (see picture).

o The overall result is a large left-to right shunt and valve regurgitation leading to volumeoverload and congestive heart failure.o This is the most common heart defect in Trisomy 21.o Symptoms

These infants most often present with heart failure by 2 months of age.o Exam findings

Characteristic murmur of a VSD, mid-diastolic murmur of increased diastolic flowacross the AV valve, and often regurgitant murmurs of the tricuspid and mitral valves.


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CXR will show cardiomegaly.o Treatment

Includes medical management of congestive heart failure and surgical correction ofthe lesion in the 1

st6-12 months.

Idiopathic Hypertrophic Subaortic Stenosis (IHSS)o

Inherited as an autosomal dominant disorder with variable expression.o Characterized by asymmetric hypertrophy of the left ventricular outflow tract.o Symptoms

This is the most common cause of sudden death in athletes; these patients mostcommonly die of arrhythmias.

o Exam findings Crescendo-decrescendo systolic murmur heard best at the middle left to right upper

sternal border

The murmur gets louder with Valsalva or standing; it decreases with squatting(the opposite will occur with the murmur of aortic stenosis).

CXR and ECG will show LVH.o Treatment

Medical therapy includes beta blockers and calcium channel blockers. Surgical treatment involves the removal of the hypertrophied cardiac muscle. Some patients require implantable defibrillators.

Pulmonic stenosis/atresiao 2nd most common congenital heart defect (VSD is the most common).o The overall formation and size of the right ventricle and tricuspid valve are related to the time

in gestation in which pulmonic stenosis occurs.

If it is early, venous return is likely to be diverted across the foramen ovale and the RVand tricuspid valve are going to be small.

If the stenosis occurs later in gestation, RV formation is likely to be normal.o The severity of the symptoms depends on the extent of the stenosis and the degree to which

the RV and tricuspid valve development have been affected.

Infants with severe pulmonic stenosis will present in early infancy with severe cyanosisand cardiac collapse as the ductus arteriosus closes.

Most affected children are asymptomatic and are picked up only because of amurmur.

o Exam findings include a systolic ejection click along the left sternum, followed by a crescendo-decrescendo systolic murmur heard best at the left upper sternal border which radiates to

below the left clavicle and to the back. There is also a wide, split S2 or a single S2.

Tetralogy of Falloto Most common cyanotic heart lesion in children with congenital heart disease who have

survived untreated beyond infancy.

o Composed of right ventricular outflow tract obstruction, VSD, an overriding aorta, and rightventricular hypertrophy.


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o Symptoms include cyanosis (the severity of which depends of the degree of the rightventricular outflow tract obstruction and the resulting right-to-left shunt across the VSD) and

Tet spells.

Tet spells occur when there is an acute reduction in pulmonary blood flow, a drop insystemic afterload, and a worsened right-to-left shunt.

Watch for on tests the child who squats after exertion (the squatting causes increasedarterial oxygen saturation due to increased systemic arterial resistance which leads to

increased pulmonary blood flow).

o Exam findings include a systolic murmur due to the VSD and the right ventricular outflow tractobstruction.

Transposition of the great arterieso Complete transposition of the great arteries is the most common cardiac cause of cyanosis in

the newborn during the 1st

few days of life.

o In this defect, the systemic venous return goes into the right atrium, the right ventricle, andthen out the transposed aorta.

The oxygen-rich pulmonary venous return goes into the left atrium, the left ventricle,and then is ejected back into the lungs via the transposed pulmonary artery.

So, these patients are dependent on a connection between the right and leftcirculations for survival.

The ductus arteriosus is that connection early on, but doesnt help very much andthese infants are usually cyanotic at birth with worsening cyanosis over the 1

stfew

hours.

o Exam findings include a single, loud S2 (because the aorta is right under the sternum). Total anomalous pulmonary venous return

o In this defect, the pulmonary veins connect either to the right atrium or to veins draining intothe right atrium.

Blood gets to left side of heart through patent foramen ovale or ASDo There are 3 main types of anatomic connections that occur:

Supracardiac (30%) Pulmonary venous return via a left vertical trunk into the left innominate vein,

and then into the superior vena cava.

Cardiac (30-40%) Pulmonary veins connect directly to the right atrium or the coronary sinus.

Infradiaphragmatic (20-25%) Pulmonary veins will go below the diaphragm, connect with the ductus

venosus, and then into the inferior vena cava.

These patients are most likely to have severe obstruction to pulmonary venousreturn.

o Those with severe obstruction to pulmonary venous return will present early on withsymptoms of pulmonary edema and cyanosis.

Those without pulmonary venous return obstruction will have minimal cyanosisinitially.

o These patients do not have murmurs.


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Truncus arteriosuso Occurs when a single arterial trunk comes off from the ventricular chambers and then supplies

the coronary, pulmonary, and systemic circulations.

The trunk overrides a VSD.o A large number of patients with truncus arteriosus have an associated chromosomal

abnormality (such as partial deletion of chromosome 22 DiGeorge syndrome).o The patients often have only minimal cyanosis because of increased pulmonary blood flow.o They typically present in the first few weeks to months of life with left heart failure and failure

to thrive.

o Exam findings include mild cyanosis, a single S2, and bounding peripheral pulses. Hypoplastic left heart

o Involves underdevelopment of the left side of the heart, with resulting dilation andhypertrophy of the right side of the heart.

o The right side of the heart supports both the systemic and pulmonary circulationsusing a PDA.

o Accounts for 25% of all cardiac deaths in the 1st

year of life.o These patients will present with cyanosis, poor perfusion, and congestive heart failure as the

ductus arteriosus closes.

o Exam findings include a hyperdynamic precordium with diminished peripheral pulses. Tricuspid Atresia

o Absence of the tricuspid opening; as a result, the only way of getting blood from the rightatrium to the rest of the circulation is via a foramen ovale.

Results in hypoplasia of the right ventricle due to decreased blood flow.o Usually occurs in association with a VSD, which allows pulmonary blood flow across the VSD to

the hypoplastic right ventricle, and into the pulmonary artery.

o Cyanosis appears within hours to days after birth, when the ductus arteriosusbegins to close.

o Exam findings include a murmur characteristic of the VSD.

Presentation of Congenital Heart Disease in Infants

Typically presents in 1 of 4 ways:o Asymptomatic newborn who has murmur

Several of the CHD lesions will often not cause symptoms in initial newborn periodincluding:

Non-critical aortic and pulmonic stenosis Pink Tetralogy of Fallot Small to medium VSD ASD Mild to moderate Coarctation of the aorta

o Cyanosis 5 Ts (plus the Hplus the PA)


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Thanks to the ductus arteriosus and foramen ovalethese patients might haveminimal to no cyanosis initially

Exceptions: Transposition of the great arteries Pulmonic valve atresia (esp with intact ventricular septum)

Remember to think cyanotic heart disease in newborn with persistent, peacefultachypnea

o Progressive heart failure Seen most commonly with:

Large VSD Endocardial cushion defects Large persistently patent Ductus Arteriosus

These patients typically asymptomatic at birth, but develop symptoms as pulmonaryvascular resistance falls.

Symptoms: tachypnea, sweating, difficulty feeding, FTT, gallop rhythm, hepatomegalyo Shock or catastrophic heart failure

Seen most commonly with: Critical coarctation of the aorta Critical aortic valve stenosis Hypoplastic left heart syndrome

Only clues in newborn nursery may be single and loud S2, marked increase in rightventricular activity on precordial palpation, or minimally abnormal postductal pulse ox

(in HLHS)

May not have pulse differential yet because of large, open ductus arteriosus Clinical presentation can mimic sepsis:

Tachypnea Mottled gray skin Poor perfusion

Clues that its cardiac vs septic shock: Gallop rhythm Marked hepatomegaly or cardiomegaly Profound metabolic acidosis (pH of 7.0 or less)

Helpful Websites

http://www.med.ucla.edu/wilkes/ http://www.cardiologysite.com/


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References

Johnson, Jr., Walter H., and James H. Moller. Pediatric Cardiology. Philadelphia: Lippincott Williams &Wilkins, 2001. 1-28, 145-53.

Benavidez, Oscar, Allan Goldblatt, and Leonard S. Lilly. Heart Sounds and Murmurs. Pathophysiologyof Heart Disease. 2nd ed. Ed. Leonard S. Lilly. Baltimore: Lippincott Williams & Wilkins, 1998. 25-38.

Erickson, Barbara. Heart Sounds and Murmurs: A Practical Guide. 2nd

ed. St. Louis: Mosby-Year Book,Inc., 1991.

McConnell, Michael M., Samuel B. Adkins III, and David W. Hannon. Heart Murmurs in PediatricPatients: When Do You Refer? American Family Physician 1999 Aug; 60(2): 558-65.

Rosenthal, A. How to distinguish between innocent and pathologic murmurs in childhood. PediatricClinics of North America 1984; 31: 1229-40.

Pelech, AN. The cardiac murmur: when to refer? Pediatric Clinics of North America 1998; 45: 107-22. Silberback M, Hannon D. Presentation of Congenital Heart Disease in the Neonate and Young Infant.

Pediatrics in Review 2007; 28; 123-131.

Menashe, Victor. Heart Murmurs. Pediatrics in Review 2007; 28; e19-e22.

Edited 12/7/11

heart murmurs and congenital heart disease in pediatric patients

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