HISTORY

36-year-old man.

CHIEF COMPLAINT: Increasing shortness of breath for the past month and

recent onset of neck pain.

PRESENT ILLNESS: He first noted eight years ago the onset of pulsations

in the neck while shaving and “felt” his heart beat when recumbent.

Progressive dyspnea on exertion and profuse sweating without fever have

been noted for the past two months. There is a history of a murmur in early

childhood, but no history of acute rheumatic fever.

Question: What diagnosis is suggested by this history?

17-1

Answer: The presence of a murmur in early childhood is compatible with a

congenital etiology, although rheumatic heart disease may occur without a

definite history of rheumatic fever.

Prominent pulsations in the neck may be arterial or venous. The neck pain

suggests that the pulsations are arterial. This pain may be due to a vigorously

pulsating artery that stretches the carotid sheath, causing arteritis. Prominent

arterial pulsations in the neck usually reflect a large stroke volume, as seen in

aortic regurgitation (AR) and patent ductus arteriosus (PDA).

Dyspnea on effort is a common and relatively early symptom of left ventricular

failure. Sweating may be a clue to the diagnosis of severe AR, and is thought

to be secondary to autonomic dysfunction.

Proceed

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17-3

PHYSICAL SIGNS:

a. GENERAL APPEARANCE- 36-year-old mildly dyspneic man.

b. VENOUS PULSE - The CVP is estimated to be 7 cm H2O.

Question: How do you interpret the venous pulse?

ECG

JUGULAR

VENOUS

PULSE

Answer: The estimated CVP is at the upper limits of normal and the

venous wave form is normal.

c. ARTERIAL PULSE - (BP = 160/35 mm Hg)

Question: How do you interpret the arterial pulse?

CAROTID

PULSE

ECG

17-4

Answer: The pulse pressure is wide and the diastolic pressure is low. This

suggests a lesion with increased stroke volume and rapid diastolic runoff, such

as AR or PDA.

The carotid pulse is bifid or bisferiens (twice beating) in systole. Its presence is

most consistent with the diagnosis of AR, with or without a mild degree of

aortic stenosis. While hypertrophic obstructive cardiomyopathy may be

associated with a bifid arterial pulse, the wide pulse pressure is inconsistent

with this lesion.

Question: How do you explain the bisferiens pulse?

17-5

Answer: The first (percussion) wave relates to the forceful initial contraction

of the pre-(volume) loaded left ventricle (Starling’s Law of the Heart).

In addition, the velocity of left ventricular contraction is increased due to

the reduced after-(pressure) load associated with compensatory

peripheral vasodilation.

The second (tidal) wave is likely caused by reflected waves from the periphery

that are accentuated because of the large stroke volume in association with a

decreased peripheral resistance.

Following the second peak of the pulse wave, there is a rapid fall in the

pressure during late systole, the so-called “systolic collapse.” This likely relates

to the rapid loss of blood volume into the dilated peripheral vessels and across

the incompetent aortic valve.

Proceed

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17-7

d. PRECORDIAL MOVEMENT and e. CARDIAC AUSCULTATION

Questions: 1. How do you interpret the precordial movement?

2. How do you interpret the acoustic events at the upper right sternal edge?

PHONO

UPPER RIGHT

STERNAL EDGE

ECG

APEXCARDIOGRAM

5TH & 6TH ICS

ANTERIOR

AXILLARY LINE

S1

S2

Answers: 1. The apical impulse is displaced laterally, enlarged, hyperdynamic and non-

sustained. The displacement and enlargement are consistent with a

chronically preloaded left ventricle, as seen in mitral or aortic regurgitation

or PDA. The hyperdynamic non-sustained character of the impulse is due

to an increased stroke volume associated with the increased preload and an

increased velocity of contraction due to the reduced afterload.

2. There is an ejection sound (arrow), a short early systolic crescendo-

decrescendo murmur and a high frequency diastolic decrescendo murmur

at the upper right sternal edge.

Proceed

17-8

Answer (continued): An ejection sound may arise from either a pliable

congenitally abnormal semilunar valve or in association with a dilated great

vessel. The fact that it is heard at the upper right sternal edge makes it

most likely aortic in origin. Aortic ejection sounds, in contrast to pulmonary

ejection sounds, have no respiratory variation, and in some cases may be

heard at the apex.

The short systolic murmur is most likely due to increased flow across a

non-stenotic aortic valve, as it occurs only during maximum ejection, and may

be related to turbulence alone.

A diastolic murmur of high frequency and decrescendo character in this location

is consistent with AR. Auscultation at the mid left sternal edge may help to

further define this murmur.

Proceed

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17-10

e. CARDIAC AUSCULTATION (continued)

Question: How do you interpret the murmur at the mid left sternal edge?

PHONO

MID LEFT

STERNAL

EDGE

ECG

S1

S2

17-11

The murmur begins with

the aortic sound (A2),

because the aortic root

diastolic pressure exceeds

left ventricular pressure

(LV) diastolic pressure

immediately after the onset

of diastole. The murmur

then diminishes as the

aortic root pressure falls

and left ventricular

pressure rises in diastole.

Answer: There is a high frequency (blowing), early diastolic, decrescendo

murmur consistent with AR. The murmur is typically loudest at the mid left

sternal edge, but may be audible in other areas.

Proceed

AORTA

LV

PHONO

PR

ES

SU

RE

(m

m H

g)

S1 A2

S1

17-12

e. CARDIAC AUSCULATION (continued)

Question: How do you interpret these acoustic events?

PHONO APEX

(Low Frequency)

PHONO

UPPER RIGHT

STERNAL EDGE

(High Frequency)

ECG

S1 S2

Answer: At the apex, the first heart sound is diminished, and there is a low

frequency apical diastolic murmur (arrow) which is either an Austin Flint rumble

secondary to AR, or due to associated mitral stenosis. These findings are also

well heard posterolateral to the mitral area over the enlarged left ventricle.

The Austin Flint murmur is related to the premature closure of the mitral valve.

With severe AR, the left ventricular diastolic pressure rises early and

approaches that of the left atrium causing the mitral valve leaflets to begin to

close prematurely. The velocity and turbulence of diastolic flow through the

reduced mitral valve orifice causes this low frequency murmur of “relative”

mitral stenosis. The reduced intensity of the first heart sound is also explained

by premature mitral valve closure.

The simultaneously recorded phonocardiogram at the upper right sternal edge

helps to correlate the diastolic murmur of aortic regurgitation with the

Austin Flint rumble. The broken arrow denotes the ejection sound

previously described.

f. PULMONARY AUSCULTATION

Question: How do you interpret the acoustic events in the pulmonary lung

fields?

Proceed 17-13

17-14

Answer: In all lung fields, there are normal vesicular breath sounds.

ELECTROCARDIOGRAM

Question: How do you interpret the ECG?

I II III aVR aVL aVF

V1 V2 V3 V4 V5 V6

ALL LEADS 1/2 STANDARD

17-15

Answer: The ECG shows first degree heart block (P-R>0.20), left axis

deviation and left ventricular hypertrophy associated with an intraventricular

conduction delay.

CHEST X RAYS

Question: How do you interpret these chest X rays?

POSTEROANTERIOR (PA) LEFT ANTERIOR OBLIQUE (LAO)

Answer: In the PA view, the cardiac silhouette is convex or “boot shaped”

(arrow) and extends below the diaphragm. This is typical of a markedly dilated,

inferolaterally displaced left ventricle due to chronic volume overload. Moderate

dilatation of the aortic root (broken arrow) is also consistent with chronic

volume overload.

The findings are confirmed in the LAO view which shows the dilated ventricle

extending beyond the spine (arrow) and the dilated aortic root (broken arrow).

Question: Based on the history, physical examination, ECG and chest

X rays, what is your initial diagnostic impression and plan to further evaluate

this patient?

17-16

Answer: The history, physical examination, ECG and chest X rays are all

consistent with a preloaded left ventricle due to isolated, severe aortic

regurgitation with left ventricular dysfunction. With rheumatic heart disease, the

mitral valve is essentially always involved. Although the exact etiology of the

aortic regurgitation is not definite, the history of a murmur in childhood, the

absence of rheumatic fever and the absence of other valvular involvement

detectable at the bedside, suggest a congenital etiology.

An echocardiogram is likely to further define the cause of the apical murmur

and may define the etiology of the aortic regurgitation. The patient’s

study follows.

Proceed

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17-18

LABORATORY - ECHOCARDIOGRAM

TWO-DIMENSIONAL PARASTERNAL LONG AXIS (Systole)

Question: How do you interpret this echocardiogram?

RV = Right Ventricle

LV = Left Ventricle

Ao = Aorta

LA = Left Atrium

Answer: The two-dimensional echocardiogram shows systolic doming

(arrow), a characteristic of a congenitally malformed aortic valve. The left

ventricle is moderately dilated.

In the real-time study the left ventricle is hyperkinetic, the aortic valve bicuspid,

and the mitral valve structurally normal.

Proceed

17-19

17-20

LABORATORY (continued) A color Doppler flow study clearly demonstrates the jet of aortic regurgitation

(arrow) as shown below.

The configuration of the jet suggests that the regurgitation is

moderately severe.

Proceed

RV = Right Ventricle

LV = Left Ventricle

Ao = Aorta

LA = Left Atrium

MV = Mitral Valve

PARASTERNAL LONG AXIS (DIASTOLE)

The echocardiographic studies support the clinical diagnosis of isolated severe

AR due to a congenitally bicuspid aortic valve.

In the presence of isolated AR, a dilated hyperkinetic left ventricle is virtually

diagnostic of chronic AR.

Question: How would you treat this patient?

17-21

Answer: The patient was treated with salt restriction, digitalis, diuretics and

a vasodilator to reduce afterload. He improved significantly, but still had mild

dyspnea and cardiomegaly. Because of this and his bedside findings of severe

AR, he is a candidate for valve replacement.

While catheterization is not mandatory, it will confirm the diagnosis, assess left

ventricular function and define the anatomy of the coronary arteries.

Proceed

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17-23

LABORATORY (continued) - CARDIAC CATHETERIZATION

Question: How do you interpret the above data?

ADDITIONAL DATA:

No gradient across the

mitral valve.

Cardiac Index =

2.2 L/Min/M2

LV = Left Ventricle

AO = Aorta

ECG

INTRA AORTIC PHONO

INTRA VENTRICULAR PHONO

AO

LV

mm

Hg

0

100

200

Answer: There is a wide pulse pressure (110 mm Hg), typical of severe AR.

There is no significant systolic gradient across the aortic valve, confirming the

clinical impression that the systolic murmur was due to increased flow alone.

The left ventricular end-diastolic pressure is increased (30 mm Hg) and the

cardiac index is reduced (normal = 2.5-4.0 L/Min/M2), reflecting a decrease in

left ventricular function.

The intraaortic phonocardiogram shows systolic and diastolic murmurs, while

the intraventricular phonocardiogram shows only a diastolic murmur and

correlates exactly with the bedside examination.

Proceed

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17-25

LABORATORY (continued)

AORTIC ROOT ANGIOGRAM

ADDITIONAL DATA:

The coronary

arteriograms were

normal. Left ventricular

injection showed no

mitral regurgitation.

Ao = Aorta

LV = Left Ventricle

Question: How do you interpret the angiograms?

PA LATERAL

Answer: In both the PA and lateral views, injection of dye into the aortic

root results in marked opacification of the left ventricle, reflecting severe aortic

regurgitation. The ventricle and ascending aorta are dilated.

Based on the clinical and laboratory evaluation, the patient underwent

prosthetic aortic valve replacement. His postoperative course was uneventful

and he improved markedly.

Proceed for Summary

17-26

SUMMARY

Aortic regurgitation can be secondary to intrinsic aortic valve disease

(e.g., rheumatic, infectious, congenital, traumatic) or aortic root disease (e.g.,

syphilis, cystic medial necrosis, aortic dissection, ankylosing spondylitis).

When the etiology is rheumatic, the mitral valve is nearly always involved.

A congenital bicuspid aortic valve may leak because the two cusps are unequal

in size, with the larger cusp prolapsing into the left ventricle during diastole.

Fibrosis and calcification often occur over a period of years, resulting in a rigid

structure associated with both stenosis and regurgitation.

Left ventricular volume overload is the basic hemodynamic abnormality. The

compensatory response of the left ventricle is hypertrophy and dilation. The left

ventricle is able to tolerate significant volume overload for years prior to

decompensation.

Proceed

17-27

SUMMARY(continued)

The peripheral manifestations of AR related to the wide pulse pressure have

been described with a variety of eponyms:

Corrigan’s pulse = abruptly rising and falling pulsations (or Waterhammer) de Musset’s sign = rhythmical nodding of the head synchronous with each

heart beat Quincke’s sign = alternate reddening and blanching of the nail bed when the

tip of the nail bed is slightly compressed Duroziez’s murmur = biphasic to and fro bruit detected by mild pressure of

the stethoscope over the femoral artery Hill’s sign = disproportionate femoral systolic hypertension detected by leg

blood pressure Pistol shots = sharp, high frequency systolic sounds, analogous to Korotkoff

sounds, heard over the peripheral arteries

Proceed

17-28

SUMMARY(continued)

Endocarditis prophylaxis is mandatory in AR, since infection of the deformed

valve is the most important factor in producing sudden deterioration. Proper

timing of surgery is essential.

Patients with mild AR may have a long and uncomplicated course with normal

life expectancy. Those with a wide pulse pressure, those with moderate to

severe left ventricular enlargement by echocardiography and those with

decrements in left ventricular function should be considered for surgery. The

onset of angina pectoris or symptoms of left ventricular failure are indications

for further evaluation.

The goal of management is to operate before irreversible deterioration in

ventricular function occurs.

Proceed

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17-30

PATHOLOGY

Specimen of a bicuspid aortic valve associated in life with aortic regurgitation.

Proceed for Case Review

RAPHE

OSITA Right Coronary Artery and Accessory Vessel

COMMISSURE ( )

OSTIUM

LEFT

CORONARY

ARTERY

LEFT

VENTRICLE

AORTIC

CUSPS

(Pliable,

non-

calcified)

17-31

To Review This Case of

Isolated Congenital Aortic Regurgitation:

The HISTORY is typical, including a murmur in childhood and the later

onset of prominent arterial pulsations and left ventricular failure. Additional

features include neck pain and diaphoresis.

PHYSICAL SIGNS

a. The GENERAL APPEARANCE reveals a mildly dyspneic man in his

mid 30’s.

b. The JUGULAR VENOUS PULSE mean pressure and wave form

are normal.

c. The CAROTID PULSE is bisferiens and the pulse pressure is wide,

reflecting increased stroke volume and rapid diastolic runoff.

Proceed

17-32

d. PRECORDIAL MOVEMENT is hyperdynamic and inferolaterally

displaced, consistent with a preloaded left ventricle.

e. CARDIAC AUSCULTATION reveals the characteristic features of chronic

AR:

1) The diastolic decrescendo murmur of AR;

2) The basilar systolic crescendo-decrescendo murmur secondary to

increased flow across the aortic valve;

3) The apical diastolic Austin Flint rumble and diminished first sound due

to premature closure of the mitral valve that are also well heard

posterolateral to the mitral area over the enlarged left ventricle.

4) An ejection click characteristic of a bicuspid aortic valve.

A fourth murmur, not present in this case, and due to mitral regurgitation

associated with dysfunction of the mitral apparatus from left ventricular

dilation, may occasionally be heard.

f. PULMONARY AUSCULTATION reveals normal vesicular breath sounds

in all lung fields.

Proceed

The ELECTROCARDIOGRAM shows first degree heart block, left

axis deviation, an intraventricular conduction delay and left ventricular

hypertrophy, reflecting the chronically volume loaded left ventricle.

The CHEST X RAY also reflects chronic volume overload, with marked

left ventricular enlargement and mild aortic root enlargement.

LABORATORY STUDIES include echo Doppler showing a

congenitally abnormal aortic valve associated with severe AR. Catheterization

and angiography show isolated AR of severe degree, normal coronary arteries

and evidence of left ventricular failure.

TREATMENT is aortic valve replacement.

17-33