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 ofthe 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
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 benefitfrom 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
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
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
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
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
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
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
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
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.
2. Dammann,
J.
F., Jr., and Muller, W. H.,J
r.: The role of the pulmonary vascularbed in congenital heart disease.
FErn-ATRICS, 12:307, 1953.
Post-natal structural changes in intrapulmon-ary arteries and arterioles. Arch. Path.,
51:192, 1951.
4. Dammanu,
J.
F., Jr. , and Ferencz, C. : Thesignificance of the pullnonary vascular
1)ed in congemiital heart disease. Am.
Heart
J.,
52:210, 1956.5. Bing, R.
J.
: Congenital heart disease. Anintroduction and classification. Am.
J.
Med., 12:77, 1952.
6. Taussig, H. B.: Diagnosis and
manage-memit of common malformations of the
heart. Circulation, 6:930, 1952.
7. Gasul, B. M., and Marienfeld, C.
J.
:Clini-cal diagnosis of the cyanotic types of
congenital malformations of the heart.
Pediat. Clin. North America, February, 1954, p. 131.
8. Taussig, H. B. : Congenital Malformations
of the Heart. New York, Commonwealth
Fund, 1947.
9, Richards, M. R. : Pre- and postoperative
growth pattermis in congenital heart dis-ease as shown by the Wetzel grid. PEDI-ATRICS, 9:77, 1952.
10. Edwards,
J.
E. : Functional pathology ofcongeiiital heart disease. Pediat. Clin. North America, February, 1954, p. 13.
1 1. Friedhich, A. L. : Pitfalls in auscultation of
the heart. Mod. Concepts Cardiovas.
Dis., 24:303, 1955.
12. Brown,
J.
W. : Congenital Heart Disease.London, Staples, 1950.
13. Joos, H. A., Yu, P. N., Lovejoy, F. W.,
Jr., Nyc, R. E., Jr., and Simpson,
J.
H.:Clinical and hemodynamic studies of
congenital pulmonic stenosis with intact ventricular septum. Am.
J.
Med., 17:6,1954.
14. Reinhold,
J.
D. L., and Nadas, A. S.: Therole of auscultation in the diagnosis of
congenital heart disease. Am. Heart
J.,
47:405, 1954.15. Kjellbcrg, S. R., Manmiheimer, E., Rudhe,
U., amid Jomisson, B. : Diagnosis of
Con-genital Heart Disease. Chicago, Yr. Bk.
Pub., 1955.
16. \Vood, P. : Diseases of the Heart and
Cir-culation. London, Eyre, 1950.
17. Fogel, D. H. : The innocent (functional)
cardiac murmur in children. PEDIATRICS,
19:793, 1957.
18. Rhodes, P. : Diagnosis of innocent heart
murmurs in children. Bull. Denver
Rheumat. Fever Diagnostic Service,
February, 1955.
19. Engle, M. A. : Ventricular septal defect in
infancy. PEDIATRICS, 14: 16, 1954.
20. Blount, S. G., Mueller, H., and McCord,
M. C. : Ventricular septal defect. Am.
J.
Med., 18:871, 1955.
21. Braudo,
J.
L., Nadas, A. S., Rudolph, A.M., and Neuhauser, E. B. D. : Atrial
septal defects in children. PEDIATRICS,
14:618, 1954.
22. Gibson, G. A. : Persistence of the arterial
duct and its diagnosis. Edinburgh M.
J.,
8:1, 1900.
23. Joos, H. A., and Johnson,
J.
L. :Retrc-grade aortography under hypothermia
in infancy and early childhood. Am.
Heart
J.,
55:743, 1958.24. Gibson, S., White, H., Johnson, F., and
Potts, W.
J.
: Congenital pulmonarystenosis with intact ventricular septum.
Am.
J.
Dis. Child., 87:26, 1954.25. Kirklin,
J.
W., et al. : Problems in thedi-agnosis and surgical treatment of
pul-monic stenosis with intact ventricular
septum. Circulation, 8:849, 1953.
26. Mannheimer, E. : The possibilities of
di-agnosing congenital heart disease by
physical symptoms and signs. Round
table conference. Acta paediat., 44:43,
1955.
27. Rushmer, R. F., et al. : Variability in
de-tection and interpretation of heart
mur-murs. Am.
J.
Dis. Child., 83:740, 1952.28. Harned, H. S., Crothers, C. H., and
Whit-temore, R. : Diagnosis of atnial and
yen-tricular septal defects. Am.
J.
Dis.Child., 90:211, 1955.
29. Adams, F. H. : The early definitive
diagno-sis of patients with congenital heart
dis-ease.
J.
Pediat., 51:202, 1957.30. Sones, F. M., Jr. : Heart catheterization in
infancy; physiological studies.
