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A CLINICAL PERSPECTIVE IN THE DIAGNOSIS OF CONGENITAL HEART DISEASE

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A

CLINICAL

PERSPECTIVE

IN

THE

DIAGNOSIS

OF

CONGENITAL

HEART

DISEASE

By Howard A. Joos, M.D.

1)epartment of Pediatrics, University of Southern California, School of Medicine, and time Children’s Hospital of Los Angeles

Supported in part by an Established Investigatorship Grant by the Los Angeles County Heart

Associa-tion and in part by a grant from the American Heart Association.

ADDRESS: 4614 Sunset Boulevard, Los Angeles 27, California.

REVIEW

ARTICLE

364

PEDIATRICS, August 1958

I

N THE over-all diagnostic evaluation of

the adult cardiac patient, the

impor-tance of the history has been estimated at

45%, the physical examination 25%,

electro-car(!iogram 15%, roentgenologic studies 10%

t1(! all other investigations 5%.’

Modifica-tion for heart disease in children would

con-siderably weaken the relative importance of

the history and greatly strengthen that of

the physical examination. The unique

con-tributions of the special diagnostic

investi-gations woumld weigh more heavily. The

illustration is artificial, but it reminds us

that within the faculties of every perceptive

observer lie numerous reliable clues to

in-telligent clinical appraisal. Our present

pur-pose is to review a few such clues in

con-genital heart d!isease, illustrating their

syn-thesis into comprehension. This objective

implies that the pediatric clinician

right-fully enjoys a responsible position in the

evaluation and management of cardiac

problems of early life and that he may

skill-fully and comifidently identify and manage

patients with innocent mumrmurs or certain

simple malformations often without

re-course to complex aids. Furthermore, his

role is no less significant in more complex

cases requiring special consultation and

mrmore exhaustive stumdy.

In deliberately oversimplified deductive

sequence, a malformation is clinically

sig-nificant to the extent that it alters

circula-tory physiology. The resulting stresses cause

or constitute identifiable clinical aberration

with the attendant d!iagnostlc, therapeutic

and prognostic implications. These

observ-able manifestations permit reasonable

as-sessment of disturbed function, leading in

turn to differential identification and

evalu-ation of pathologic anatomy.

CLINICAL PHYSIOLOGY

A sound clinical orientation requires

ap-preciation of a few familiar and

uncompli-cated principles of abnormal circulatory

function. For example, persistent cyanosis

as a manifestation of congenital heart

dis-ease in the absence of congestive heart

failure indicates the presence of more than

5 gm of reduced hemoglobin in the

periph-eral arterial circulation. With total

concen-tration of hemoglobin of 15 gm/100 ml,

more than one-third of the systemic arterial

flow consists of blood recirculating in the

systemic circulation, having bypassed or

“short circuited” the pulmonary circulation.

The manifestation makes a physiologic

di-agnosis of right-to-left shunt.

A second essential basic concept is that

of physical work. The work of the heart

and each of its chambers consists mainly

of two elements: movement of a volume

of blood and the pressure against which this

movement must be accomplished. The

clini-cian seeks clues to the existence of cardiac

overwork, to the identification of the

cham-hers concerned, and to the components of

stress, i.e., flow, pressure or both. On

oc-casion, the heart may be relatively

over-worked in the absence of either type of

(2)

REVIEW ARTICLE 365

pump itself is impaired. Examples include

endocardial fibroelastosis, myocarditis or

paroxysmal tachycardia.

A third! ftmndlamental is an appreciation

of the remarkable importance of the

pul-monary vascular bed in determining the

cx-istence and nature of cardiac stress in many

types of congenitial heart disease.2 The

net-work of pulmonary arteries and arterioles

offers variable resistance to the passage of

I)lOOd. At a given resistance (R) the energy

of pressumre (P) is required to propel volume

(

Q)

through the vascular tree each minute.

P The three are grossly related : R -. With

Q

resistance constant, flow and pressure will

rise or decline together. As resistance rises,

pressuire usually tends to rise accordingly,

volume of flow remaining relatively

con-stant or declining slightly. Teleologically,

the circulation tends to modify pressure to

maintain the requirements of flow with

changing resistance. Thus, pressure of the

pulmonary artery is often, though by no

means invariably, a reflection of pulmonary

vascular resistance. Anatomically, high

pul-monary vascular resistance may be reflected

in thick-walled pulmonary arterioles with

relatively small lumina. Except in earliest

infancy, such changes suggest irreversibility

and inflexibly high pulmonary vascular

re-sistance.3’4 The therapeutic and prognostic

implications are important. Clinical

obser-vations suggesting changes in volume of

flow or pressure in the pulmonary circuit

should be interpreted with appreciation

that these determinants define pulmonary

vascular resistance physiologically.

Pulmo-nary vascuilar resistance, in turn, may

large-ly determine the quantitative work of the

right heart, influencing and being

influ-enced by shunts in either direction.

Bing5 has classified both cyanotic and

acyanotic congenital cardiovascular

malfor-mations according to their association with

normal, increased or decreased blood flow

and/or pressure in the pulmonary artery.

Those malformations with decreased

pul-monary artery flow and/or pressure largely

comprise tetralogy of Fallot and variations,

together with lesions with physiologic

simi-larities, e.g., tricuspid atresia and pulmonic

stenosis with interatrial communication.

These lesions usually cause cyanosis. Many

may be improved by surgery designed to

increase pulmonary blood flow.

When pulmonary artery flow exceeds

sys-temic flow and pulmonary artery pressure

is normal or increased, those malformations

without cyanosis include uncomplicated

ventricular and atrial septal defects, partial

anomalous pulmonary venous return to the

right heart, and typical patent ductus

arte-riosus. Surgical treatment is available for

many of these lesions. When cyanosis or

arterial desaturation occurs in this category,

the diagnosis falls among variations of

com-plete transposition of the great vessels,

Eisenmenger’s complex, and several

uncom-mon lesions, none of which may be

success-fully treated surgically. Operations for

cy-anotic heart disease which establish

corn-munication between a systemic artery and

a pulmonary artery are designed to relieve

cyanosis by increasing pulmonary blood

flow. Diminished pulmonary blood flow is

sine qua non

for a cyanotic child to benefit

from a shunt operation,6 although it must

not be inferred that all cyanotic patients

with reduced pulmonary blood flow may

be successfully treated surgically. On the

other hand, such operations are almost

a!-ways absolutely contraindicated with clear

clinical evidence of increased pulmonary

blood flow in a cyanotic cardiac child.

The common malformations associated

with pulmonary flow equal to systemic flow

include isolated pulmonic stenosis,

coarcta-tion of the aorta and malformations of the

aortic arch. They are acyanotic and often

operable.

The foregoing oversimplified physiologic

orientation is intended to bridge clinical

ob-servations, of which a few illustrative

cx-amples follow, and reasonable pathologic

deduction. Many prognostic and

(3)

MEDICAL

HISTORY

The antenatal history is usulally

unre-warding in congenital heart disease with

the single exception of rubella occurring

early in the first trimester. The baby most

often has an isolated patent ductus

arte-riosus, usually the least of his problems.’

The postnatal medical history may be much

more informative. The presence or absence

of cyanosis, for example, its severity, and its

behavior with physical activity are

signifi-cant guides in evaluating disturbed

func-tion. Associated physical limitation,

parox-ysmal hypoxia, compensatory polycythemia,

and intravascular thrombosis may all weigh

in determining the timing and direction of

clinical investigation as well as therapy.

Early and transient cyanosis of the newborn

suggests an extracardiac cause, particularly

if crying or oxygen administration causes

dramatic improvement.7 Right-to-left shunts

are frequently exaggerated by crying,

ag-gravating cyanosis. The administration of

oxygen often fails to alter such a shunt

greatly, and cyanosis is accordingly

persist-ent, althoumgh it may improve. Severe and

persistent or increasing cyanosis from birth

suggests such dliagnoses as transposition of

the great vessels, severe tetralogy of Fallot

with puilmonic atresia (pseud!otruncus),

tn-cuspid atresia, amid other uncommon and

often bizarre malformations. The prognosis

of babies in this group is highly guarded.

When cyanosis is first observed weeks or

months later, milder and more common

cx-amples of the tetralogy or valvular

pulmon-ic stenosis with intact ventricular septumm

andi patent foramen ovale might be more

likely. Prognosis is often relatively good,

althoumgh careftml observation is necessary

amid! early surgery may be ad!visable for

certain patients. Cyanosis may not appear

imntil late chiildlhoodl, adolescence, or adult

life with large ventricular septal defects

(physiologic Eisenmenger’s complex).

A history of squatting in a cyanotic child!

is of special diagnostic importance. The

symptom is almost exclusively limited to

those child!ren with insufficient pulmonary

blood flow. Squatting is observed in a high

proportion of cyanotic patients who go to

operation. A history of squatting may weigh

significantly in favor of a dignosis of

pul-monary stenosis when that diagnosis is in

8

Careful historic review of growth and

development is important. Developmental

retardation frequently but not invariably

relates to the severity of physiologic

dis-turbance associated with cardiac

malforma-tions, with or without cyanosis.9

Dyspnea or labored respirations indicate

imminent congestive heart failure, generally

reduced cardiac reserve, lungs flooded by

a large left-to-right shunt, anoxia, or

inter-current respiratory infection. Episodes of

paroxysmal dyspnea, paroxysmal hypoxia,

paroxysmal tachycardia and intermittent

heart block must be carefully differentiated

from each other and from a coincident

con-vulsive disorder.1

Repeated, persistent and often severe

lower respiratory infections such as

bron-chitis or pneumonia not infrequently

corn-plicate the course of infants with greatly

increased pulmonary blood flow and much

reduced cardiac reserve. In such cases large

volumes of blood enter the right side of the

circulation via an abnormal pathway from

the left. The pulmonary vascular bed is

dis-tensibic to lange volume, offering low

resist-ance to blood flow. Taking the path of least

resistance, blood shunts into the lungs from

the systemic arterial circulation because of

its high pressure and high resistance. Such

babies have large hearts, gain poorly and

commonly succumb early to infection or

heart failure, perhaps precipitated by

infec-tion. When this syndrome results from

pat-ent ductus arteriosus, it may be cured easily

by surgery if it can be identified.

Unfor-tunately, the clinical findings arc seldom

sufficiently specific in early infancy for

re-liable diagnosis without accessory studies

such as cardiac catheterization or

netro-grade aortography.

By history then, the diagnostic review

may be narrowed by seeking information

leading to specific deductions such as the

(4)

esti-REVIEW ARTICLE 367

mate of its gross magnitude and its effect

on the volume of flow of blood through the

pulmonary circumlation . These impressions

are expanded and refined in the physical

examination. Interpretation is still directed

towar! more specific identification of the

physiologic disturbances and, in turn, to

un-derstanding the anatomic alternatives.

PHYSICAL EXAMINATION

Despite recent growing attention to

com-plex special investigative laboratory

proce-dures, it is difficult to overestimate the

im-portance of the physical examination in the

diagnostic evaluation of the patient with

congenital heart disease.1 The patient

can-not be separated from his circulatory

sys-tem. The more remote effects of

cardiovas-cular malformation and circulatory

dysfunc-tion are widespread and at times more

in-formative than the examination of the heart

itself.

General Appearance

General appearance, growth, habitus,

state of nutrition, muscle tone and many

other over-all impressions may have

impor-tant significance. The gracilc habitus of

older children and adolescents with atnial

septal defect is a familiar illuistration,

a!-though it is not limited to that

malforma-tion. Another is the acyanotic infant with

mongolism whose heart murmur is most

likely a variation of common

atrioventricu-lar canal or ventricular septal defect.1#{176}

Visi-ble movements of the parasternal precordial

chiest wall with the heart beat may reflect

its thinness, the proximity of the underlying

right ventricle and the vigor of its

contrac-tions. NIore laterally, such movements may

identify overactivity of the left ventricle. A

precordial bulge sumggests cardiac

enlarge-ment manifesting circulatory stress and

re-dumced cardiac reserve. Pronoun ced arterial

l)tmlsations in the suprasternal notch may

suggest an aortic leak through a patent

diuctus arteniosus, or proximal hypertension

due to aortic coanctation.

Persistent cyanosis at rest betrays a

right-to-left shunt of large volume. Cyanosis may

be absent at rest, however, becoming

cvi-dent only with physical exertion.

Compcn-satory polycythemia may be minimal or

ab-sent. Such a patient may be severely

d!is-abled. The shunt may vary in volume, and

he may be greatly improved by operation if

the underlying malformation permits.6 With

compensatory polycythemia, cyanosis may

be visible with proportionately smaller

shunts. Conversely, the anemia common in

the second half of the first year may

pre-vent the appearance of cyanosis, even with

right-to-left shunts of large volume.

For-thermorc, anemia in a cyanotic patient may

cause cardiac decompensation at higher

hemoglobin concentration than coumld

orli-nanily cause failure. Again, such patients

have at least 5 gm/100 ml of reduced,

“non-working” hemoglobin.

Palpation

Careful palpation should never be

neg-lected in routine physical evaluation. When

the radial pulse is vigorous and bounding,

weak or absent pulsations over femoral or

dorsalis pedis arteries strongly suggest

co-arctation of the aorta, particularly when

the radial pulse precedes the femoral on

simultaneous palpation. The same diagnosis

is suspected when superficial pulsating

col-lateral arteries are palpated over the

shouml-der girdle and upper trunk in an older

pa-tient.

A diagnosis of coarctation is unequivocal

when hypertension in the upper extremites

and normotension or hypotcnsion in the

lower extremities is demonstrated by

meas-urement of blood pressure. A weaker pulse

and lower blood pressure in the left than

the right arm suggests narrowing or

con-striction diffusely involving the isthmus of

the aorta. If the flush method is employed

in young infants, a gradient of blood

pres-sure from upper to lower extremities

cx-ceeding 20 mm Hg is necessary for

signifi-cance. A large pumlse with a water-hammer

quality, perhaps in association with

exag-gerated capillary pulsations and Durozicz’s

murmur over the femoral artery suggests an

(5)

ductus arteriosus. On the other hand, a

shallow, slowly rising pumlse may support a

(liagnosis of aortic or subaortic stenosis.

The location and character of palpable

precordial movements may reflect the

re-spective ventricular burdens. For example,

a diffumse, parasternal systolic heave in the

mid-cardiac area medial to the apex

sug-gests an overworking right ventricle. A tap

or thrust at or lateral to the apex, on the

other hand, arouses suspicion of left

yen-tnicular stress. In the newborn period,

car-diac enlargement may be suggested by

vis-ible or palpable cardiac pimlsations through

the diaphragm in the epigastrium near the

xiphoid.#{176}

A systolic thrill high along the right

bor-der of the sternum, in the suprasternal notch

and over the carotid arteries, is diagnostic

of aortic or subaortic stenosis, although

these diagnoses are not excluded by its

ab-sencc. More commonly, a similar thrill on

the left will strongly suggest valvular

pul-monic stenosis. Atnial septal defect with

large pumlmonarv blood flow and relative

pulmonic stenosis may be accompanied by

a thrill simulating that of pulmonic stenosis.

If such a thrill extends well into diastole, a

confident diagnosis of patent ductus

ante-niosus may be made by palpation alone. A

systolic thrill maximal in the third and

fourth left parasternal interspaces suggests

ventricular septal defect or occasionally

in-fundibular pulmonic stenosis.

Palpable pulsations of the liver represent

exaggerated venoums pulse waves, reflected

in turn from the right atrium. They occur

in association with atresia of the tricuspid

valve. Here the high venous pressure

pulse reflects efforts of the right atrium to

overcome resistance at a dangerously small

atnial scptal defect, sole outlet from that

chamber. In the older child, hepatic

pul-sations may occur with pulmonic stenosis

with intact ventricular septum. These

ab-normal pulsations may often be observed in

the superficial external jumgular veins with

0 Dr. A. H. Parmrmelee, Sr. first brought this

valtm-able observation to the author’s attention.

the patient sitting at more than 45 degrees

from the supine, but this observation is less

reliable in infancy. Manifest enlargement of

the liven suggests congestive circulatory

failure, especially in association with

dysp-nea and tachypnea, although moderate

hep-atomegaly may occur in association with

cardiac enlargement without frank cardiac

dccompcnsation. In infancy, moreover,

symptoms of respiratory distress alone may

mimic congestive failure closely. Apparent

hepatic enlargement of moderate degree is

a common observation in early life, with

no necessary association with disease. Such

a finding must be interpreted with caution.

Percussion

With practice, percussion permits ready

gross estimate of heart size, although the

method is relatively crude, especially in

early infancy. Cardiac dullness is pencussed

to the night with dcxtnocandia. If liven

dull-ness is found on the left and tympany over

stomach on the night, a diagnosis of

com-plete situis invensus is possible and

congeni-tal heart disease is often absent. With

cya-nosis and isolated dextrocardia or isolated

lcvocandia, however, the congenital cardiac

malformation is likely to demonstrate the

physiology of the tetralogy of Fallot or its

variations, although associated

complicat-ing anomalies arc not uncommon.

Auscultation

Despite its pitfalls,11 auscultation is the

most rewarding single procedure in the

di-agnosis of congenital heart disease,

particu-larly in the absence of cyanosis. In

evaluat-ing the quality, pitch and intensity of heart

sounds, a thorough appreciation of normal

is essential. Children normally exhibit

nan-rowly split heart sounds in all areas, best

heard at the base when the heart rate does

not exceed 100. Until adolescence or

be-yond, the second heart sound in the

pill-monic area is normally louder than the

sec-ond sound in the aortic area, especially in

girls, and the second pulmonic sound is

often better heard in the third than in the

(6)

369

In the newborn period rather loud systolic

murmurs or confusing extracardiac sounds

may be heard for several days even in the

absence of organic heart disease.

Tempo-rary persistence of fetal communications

between circulations may be responsible

in part.

More than half of all children less than

15 years of age demonstrate an innocent

murmur. Furthermore, these murmurs may

usually be differentiated easily from those

indicating organic heart disease.17 They arc

always systolic in time. They arc commonly

transient in appearance and often vary

per-ccptibly in intensity and quality with

res-pirations, change in position, mild exercise

or occasionally in association with fever. On

occasion, they may be loud and persistent

enough to require careful differentiation

from organic murmurs. A soft, high-pitched

murmur at the base or a very soft

low-pitched murmur near the apex may be

rc-ganded as innocent until proven otherwise.

The common so-called vibratory murmur is

best heard in and near the third and fourth

interspaces left of the sternum. It is usually

soft, only occasionally loud enough to cause

diagnostic concern. It is usually identified

by its late onset in systole with crescendo,

and by its empty sound with a regular,

mus-ical string-like quality without overtones,

usually in the low and middle frequencies.

It is usually best heard in expiration and

may be accentuated by exercise.18

Trans-mission is weak, but the murmur is

surpris-ingly well heard over the arteries of the

neck and is frequently associated with a

venous hum. Misinterpretation of this

muir-mur is one of the commonest events leading

to iatnogenic cardiac disability in the young.

Another innocent sound is the venous

hum. This is a coarse, roaring sound

through systolc and into diastolc which may

resemble the classic murmur of patent

duic-tus arteriosus. It is usually best heard above

the night clavicle and in the neck with the

patient erect. It may be well transmitted

over the upper anterior thorax where it may

be confused with aortic valvulan disease. It

may also suggest an anteriovenous fistula.

REVIEW ARTICLE

apex, on the other hand, is usually louder

than the second. The difference in

loud-ness of first and second sounds at apex and

base often permits accurate timing of the

cardiac cycle by auiscultation alone.

Congenital aortic stenosis may be

asso-ciate(! with a second aortic sound of

dimin-ished intensity, reflecting malfunction of

the valve.12 Accordingly, the second heart

sound at the base may he pure and unsplit,

the aortic component inaumdiblc. A

resound-lug, accentuated second aortic sound of

high pitch may suggest hypertension,

pen-haps proximal to an aortic coanctation.

Similarly, a soft, unsplit second pulmonic

sotmnd or absence of the second sound

sug-gests valvular puilmonic stenosis.13 A sharp,

high-pitched first pulmonic sound may be

heard! with milder examples of the lesion.’4

A loud, high-pitched!, second pulmonic

sound accompanies pulmonary

hyperten-sion of moderate or marked degree.’5 If the

second pulmonic sound is widely split,

in-complete right bundle branch block is

like-lv, probably associated with atrial or

yen-tricular septal defect.14 Such a finding

fre-qimentlv supports suspicion of left-to-right

shunt with pulmonary recirculation.

Occasionally a diagnosis of tetralogy of

Fallot is brought into doubt because the

second! heart sound is unexpectantly clear

to the left of the sternum. Such a sound

may be transmitted from the aortic valve.

It is often pure or unsplit because the

pul-nionarv component of the second sound is

weakened by reduced pulmonary flow and

pressure and because the pulmonary valve

Pes further from the chest wall.’6

Each of these findings must be viewed in

light of the specific stresses implied, and

each is subject to interpretation within total

knowled!ge of the case under examination.

Cardiac murmurs often provide our most

specific diagnostic information, although

oc-casionally they leave us perplexed.

Congen-ital heart disease with or without cyanosis

may occur in the absence of a murmur,

al-though it is uncommon. On the other hand,

the presence of a murmur does not

(7)

A venous hum is usually differentiated by its

tendency to diminish or disappear in the

reclining position, with various movements

of the head or with moderate pressure over

the veins of the neck. The author has seen

one patient with a venous hum who was

needlessly subjected to radical neck

dissec-tion in search of an arteriovenous fistula on

the right.

The organic murmurs caused by

congeni-tal heart disease arc most informative when

they are interpreted with appreciation of

the underlying pathologic physiology they

reflect. Most patients with congenital heart

disease have communications between the

night and left circulations, usually patency

of the ductus artcniosus or an atnial or

yen-tnicular septal defect. Obstruction at or

proximal to the semilunar valves or

mal-position of the great vessels are less

com-mon. Anomalies of the atniovcntnicular

valves are relatively unusual.

The characteristic murmur of a

ventricu-lar septal defect is harsh and rough,

varia-ble in pitch, composed of many frequencies,

and usually plateau-shaped or

decncscen-do,14 if we may audibly project its

phono-candiognaphic appearance. It is

character-istically maximal in the fourth left

paraster-nal interspace. It is umsually loud and widely

transmitted over the precordium and

tho-rax. It is often well transmitted toward the

xiphoid, into the left epigastnium and

pos-teniorly over the lower portion of the thorax.

A systolic thrill is a frequent

accompani-ment. The murmur often first appears in

early infancy,’9 with little subsequent

quali-tativc change throughout childhood. A soft,

low-pitched, mid-diastolic rumble near the

apex is a common association, especially

with a large shunt or cardiac enlargement.2#{176}

Atrial septal defect causes a softer,

smoother murmur more blowing in quality,

not widely transmitted, and not usually

ac-companied! by a It The second

pull-monic sound is wid!ely split as a rule,

re-flccting the frequent coincidence of right

bundle branch conduction delay. A soft,

low-pitched, apical mid-diastolic rumble

again is common. It should not be confused

with the murmur of mitral stenosis. When

right heart flow is greatly increased as a

result of a shunt of large volume, a

gra-dient of pressure may occur across the

pul-monic valve, resulting in “relative”

pulmon-ic stcnosis. Augmented turbulence may then

cause a rougher, harsher murmur with a

thrill, resembling in quality, location and

transmission the murmur of pulmonic

ste-nosis.

Patent ductus arteriosus presents a

mur-mur which is dramatic and diagnostic in

classic form. It is aptly called a machinery

murmur and is characterized by its harsh

quality with characteristic crescendo during

systole and continuation into diastole with

diminishing intensity and unchanged

qual-ity.22 The murmur is loudest in the first and

second intercostal spaces at the left of the

sternum. The diastolic component may be

soft and well enough localized to be

mis-leading unless carefully auscultated. The

systolic component is often much more

widely transmitted. The second pulmonic

sound is usually well heard, but may be

obscured by the peak intensity of the

mur-mur. In early infancy the typical murmur

is less common, although the systolic

corn-ponent may be heard, frequently lower

along the sternum, resembling the murmur

associated with ventricular septal defect.23

Absence of the diastolic component of the

murmur may reflect in part the relative

equality of pressure in the systemic and

pull-monary arterial circulations. The murmur

of patent ductus arteniosus may occur only

in systole in later life in association with an

accentuated second pulmonic sound when

pulmonary pressure is unusually high,

ap-proaching systemic pressure during

dias-tole, or when complicating malformations

coexist.

Pulmonic stenosis with intact ventricular

septum usually involves chiefly or

exelu-sivcly the pulmonic valve.24 Its murmur is

characteristic, systolic in time, located in

point of maximum intensity high along the

left border of the sternum, harsh and often

rough in quality, diamond-shaped by car

(8)

as-REVIEW ARTICLE 371

sociated with a thrill.’ mThe murmur is vell

transmitte(l under and along the left

cla’-ide, to the arteries of the neck (especially

vell on the left as a rule) and! often widely

elsewhere. Its common association with a

diminished or absent second pulmonic

sound helps differentiate it from relative

puilmonic stenosis with atnial septal defect

accompanied by a large shunt. In the latter

case, the second pulmonic sound is usually

widely split and sometimes accentuated.

It is important to remember that cyanosis

of cardiac origin does not accompany

pul-monic stenosis in the absence of a septal

defect or congestive failure. Infundibular or

subpulmonic stenosis more often

accompan-ies ventricular septal defect. If the

obstruc-tion is severe, right-to-left shunting may

occur into the aorta, simulating or

consti-tuting the tetralogy of Fallot.25 The

mur-mur of infundibular pulmonic stenosis may

be located lower along the left sternal

bon-der and may closely resemble that of

yen-tnicular septal defect. The latter murmur

or one closely similar is common to many

cyanotic types of congenital heart disease,

and is often not helpful in clinical

differen-tiation.

Congenital aortic or subaortic stenosis

causes a rough, diamond-shaped systolic

murmur to the right of the sternum near the

base of the heart, usually with a thrill, and

usually well transmitted into the arteries

of the neck, especially on the right.1t Aortic

murmurs may be well transmitted to the

third interspace at the left border of the

sternum and on toward the apex.

Diastolic murmurs are not as helpful in

the diagnosis of congenital heart disease as

they may be in acquired heart disease.1 An

early, often short, blowing diastolic

mur-mur of high pitch may be heard along the

midportion of the left sternal bonder with

pulmonary regurgitation when the

pulmo-nary artery is widely dilated in association

with atnial septal defect, or, less often,

yen-tricular septal defect, Eisenmengcn’s

com-plex, or pulmonary hypertension from other

causes. An apical mid-diastolic rumble of

low pitch and coarse quality is common

with large left-to-right shunts and/or

con-sidcrahle cardiac enlargement from many

causes.

DISCUSSION

Any brief, selective clinical review

con-stitutes an oversimplification. Emphasis on

the more frequently encountered

abnormal-ities is deliberate; no attempt at

complete-ness is intended. Electrocardiographic and

noentgenographic associations have been

omitted because these clinical laboratory

methods require special skill and

equip-ment not always available in the pediatric

office. Either or both, however, may add

indispensibly to a sensitive, objective

evalu-ation of the location and extent of

physio-logic circulatory stress. Neither should be

omitted in a conscientious, complete clinical

cardiovascular evaluation.

Of course, all cardiovascular

malfonma-tions may not be clearly and reliably

evalu-ated by simple clinical examination, even

with electrocardiographic and

roentgeno-graphic support. Complex, atypical or

ap-parently inconsistent clinical associations

require extreme caution in interpretation.

Physical observations may be interpreted

too sensitively by an overzealous observer,

to the disadvantage of the The

refined skills of the consultant cardiologist

are a necessary recourse to the practitioner

for verification and extension of his own

evaluation.

Similarly, special diagnostic

investiga-tions such as cardiac catheterization and

angiographic methods may be necessary to

clarify a diagnosis or estimate the severity

and nature of stress in preparation for

spe-cific surgical decision. In general, we feel

that such studies may be elected in

situa-tions where clinically evident stresses are

consistent with perceptible reduction in

car-diac reserve and where the differential

di-agnosis includes an operable malformation.

We prefer that they be conducted at a time

when decision for operation may be

imple-mented without undue delay. The correct

course is always that estimated to offer least

(9)

CONGENITAL HEART DISEASE

Patients with atrial septal dlefects or with valvular l)uhmnnic stenosis and intact

yen-tricular septum should be catheterized

when the stresses suggest the imminent

riced1 for operation. Earlier than optimal

study andi suirgery for a malformation may

be necessary because of pulmonary

hyper-tension, increasing card!iac size, repeated

episodes of congestive failure,

compensa-tory polycythemia of dangerous degree,

Se-vere paroxysmal hypoxia or very markedly

limited exercise tolerance.

Accurate diagnostic appraisal is most

dif-ficult in early infancy, but it may be

essen-tial. The often all-important regulating

functiomi of the pulmonary vascular bed is

less predictable. For example, persistence of

thick-walled fetal characteristics of

pulmo-nary arterioles may sustain high resistance

to flow andi the respective burdens of

pres-sure and blood flow are modified

accord-ingly. On the other hand, the pulmonary

vascular bed may open more widely after

birth, offering little resistance to flow and

permitting left-to-right shunts of large

vol-umme, even with small gradients of

propul-sive pressure energy. Such shunts may be

alarmingly disabling until adaptation

im-proves, as it may after several months, by

auigmiientation of pulmonary vascular

resist-amice, teleologically defending the lungs

against the flood. This course of events is

common with ventricular septal dcfccts.28

Once such an adjustment is accomplished,

a long period of stability with surprising

clinical well-being may follow. Awareness

of this characteristic course may help avoid

sul)jecting such patients to open heart

sun-gery requiring heart-lung bypass under

cm-cuinstances where such surgery carries

greater risk than patient, careful medical

management.

The relative equality of pressure and

re-sistance iii pulmonary and systemic

circula-tions is a normal circumstance peculiar to

the neonate and young infant. Little

pres-sure energy is available to propel blood

from one side to the other across

commu-nications between the two. Even large

corn-muumiications will result in little or no net

flow in either direction if resistance to flow

is relatively balanced, on, more accurately,

if pressure per unit of resistance is

appnoxi-matcly equal in the two circuits. Clinical

manifestations may be accordingly mild or

absent. Septal defects, particularly at the

atrial level, and patent ductus arteniosus,

for example, are frequently unsuspected

until later infancy on childhood when the

changing balance of forces causes clinically

manifest stress and turbulence of flow.

Di-agnostic difficulty may be further

aug-mented by the larger number of bizarre,

complex and often lethal malformations

en-countered in very early infancy.

Cardiac catheterization and

angiocardi-ography may be performed to great

diag-nostic advantage even in earliest infancy.

Further, the frequently urgent and puzzling

diagnostic problems of this period lead to

natural temptation to seek the assistance

of these methods more often. Interest in the

broader usefulness of these methods in

early infancy has been

Ac-cordingly, a word of caution against

undis-cniminating usc of such methods in infancy

is pertinent. The general conditions under

which we elect such studies apply equally

well to this group: (a) an operable lesion in

the differential diagnosis, (b) circulatory

stress sufficiently severe to justify (c)

promptly executed surgery. The course of

least risk remains the proper alternative,

both in selecting diagnostic studies and in

deciding therapy. If general anesthesia is

required for cardiac catheterization,

per-haps for several hours, its hazard must be

counted, and less sensitive interpretation of

oxygen differences in blood gas analysis

must be expected. In addition,

cathetcniza-tion of the pulmonary artery is not so

uni-formly accomplished, and interpretation of

the physiology of bizarre malformations

may be as difficult and uncertain for the

physiologist as for the clinician. Severely

cyanotic infants subjected to

angiocardiog-raphy may tolerate poorly the injection of a

large bolus of medium which carries no

oxygen. Precariously ill infants, cyanotic or

(10)

explor-REVIE\V ARTICLE 373

atory thioracotomy on clinical grounds with

less risk than might be offered by tedious,

lemigthv ali(l hazardous diagnostic stuidy.

Iii addition, because clinical abnormality

reflects physiologic aberration, clinical

(!Ouil)t may be reflected! in laboratory doubt

when the laboratory attempts to

demon-strate or measure physiologic derangement.

Also, on occasion, clinical observation may

be difficult to reconcile with data from the

)hvsiologic laboratory. In such cases, the

climiical estimate should far outweigh the

inconsistency of the laboratory data. The

explanation usually resides in an error of

procedure or in interpretation of laboratory

information.

The cardiac diagnostic laboratory

per-forms au immensely valuable service, not

least of whicli has been verification,

clan-ficatiomi and refinement of clinical

interpre-tations. Iii this sense, as in others, the

labo-ratory has served and continues to serve

the clinician. It serves him well, however,

only so long as he and the firmly rooted

principles of clinical medicine remain its

masters. Some practitioners and even

pedi-atric house officers, overawed by the

com-plexities introduced by the nuances of

lab-oratory interpretation, retreat to the

con-sultant and to the laboratory too readily

and with too little comprehension of their

own capacities and responsibilities in

par-tici)atuig actively in dhiagnostic as well as

therapeutic planning. The result is added

hiazard to the patient.

SUMMARY

The pediatric clinician enjoys a

respon-sil)le position in the evaluation and

manage-ment of cardiac problems in early life.

The diagnosis of congenital heart disease

is facilitated by an understanding of the

functional meaning of cyanosis, the physical

work of the heart and its chambers, and the

significance of the pulmonary vascular bed.

\ledical history and physical findings may

be interpreted to suggest the presence or

absense of a shunt, its predominant

direc-tiomi and gross magnitude, and its effect on

VOltiIiie flow and pressure in the pulmonary

circulation. Similarly, many obstructive

Ic-sions and anomalous vascular arrangements

may be identified, localized and their

sever-it)’ grossly evaluated from historic and

physical observations.

A malformation is significant to the extent

that circulatory function is disturbed. The

resulting stresses arc manifest as clinical

abnormality. Clinical evaluation

incorpo-rating appreciation of abnormal fumnctiomi

leads logically to differential identification

of anatomic alternatives.

Innocent murmurs, commonly a cause of

needless parental anxiety and iatrogenic

cardiac disability, may be confidently

iden-tified in large majority by their own

physi-cal characteristics.

Electrocardiographic and

rocntgeno-graphic study are essential for complete

evaluation. Complex and severe cases may

require the skill of a consultant and the

assistance of definitive investigative

pro-ccdures, particularly if the differential

di-agnosis includes an operable malformation.

Indications for cardiac catheterization and

angiographic study may vary, but

indis-cniminate use at any age is discouraged.

Even when such methods are necessary,

searching clinical appraisal is required in

order to define the most profitable

direc-tion and optimum time for study. For

sim-pier problems, such procedures may be

un-necessary and even misleading as vell as

significantly hazardous and expensive.

Diagnosis is often most difficult and most

critical in early infancy, partly because of

characteristics of circulatory function

pecu-liar to this period, partly because of the

larger number of bizarre, complex and

lethal malformations encountered.

REFERENCES

1. Gibson, S.: Eyes, hands and ears in the

diagnosis of heart disease in children. Pediat. Clin. North America, February, 1954, p. 3.

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FErn-ATRICS, 12:307, 1953.

(11)

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(12)

1958;22;364

Pediatrics

Howard A. Joos

DISEASE

A CLINICAL PERSPECTIVE IN THE DIAGNOSIS OF CONGENITAL HEART

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Pediatrics

Howard A. Joos

DISEASE

A CLINICAL PERSPECTIVE IN THE DIAGNOSIS OF CONGENITAL HEART

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