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BEDSIDE DIAGNOSIS OFCONGENITAL HEART DISEASE
By WALTER SOMERVILLE, M.D., M.R.C.P.Assistant Physician, Department of Cardiology, The Middlesex Hospital, Cardiologist, Thoracic Surgical Unit, Harefield
Hospital.
Before the last world war, there was littleinterest in the bedside diagnosis of congenitalheart disease. A great deal of information on theanatomy had been accumulated through thecenturies, and Maude Abbott's ' Atlas of Congeni-tal Cardiac Disease,' which appeared in 1936,incorporated all the knowledge compiled up to thattime. In its field, it was a remarkable and epoch-making work, but it dealt entirely with post-mortem diagnosis of which it is still the standardreference text.Three factors were mainly responsible for
awakening interest in the clinical features ofcongenital heart disease, and all three came tolight in the immediate post-war period. Themost important fillip was the beginning of cardiacsurgery in the United States, the operations forpatent ductus arteriosus and Fallot's Tetralogy.The second stimulus was the introduction andtechnical improvement in cardiac catheterizationand angio-cardiography. The third was thepublication in 1947 of Helen B. Taussig's' Congenital Malformations of the Heart.' Taussigunderlined the value of radiology in diagnosis andcorrelated the findings with the anatomy; thechief merit of her work is that it embodied theseparate researches of many in the inter-war years,including, in the United States, Burwell, Eppingerand White, and in this country, Brown, Parkinson,Bedford, Lewis and others. Once the theme wasset, progress was made at a rapid tempo. Thekey which solved many clinical problems was theease with which the blood pressure could bemeasured in the heart and great vessels by cardiaccatheterization, and shunts of blood from arterialto venous circulations, and vice versa, could bemeasured and localized. By I950, much progresshad been achieved with the correlation of thederanged anatomy and physiology with theclinical findings, electrocardiogram (ECG) andradiogram. This new approach to congenitalheart disease was well illustrated by Wood (1950)in the St. Cyres Lecture of I950. The bedside
diagnosis of the commoner conditions with whichthis article is concerned is now on so firm afooting that catheterization and angiocardiographyare usually unnecessary. Uncommon or complexcases, however, can only be understood by theseinvestigations. There remain many bizarre andcomplicated anomalies which cause death in earlyinfancy. These cannot be diagnosed ante-mortemand will not be referred to further.There are six conditions which account for over
80 per cent. of all congenital heart diseases foundin children and adults. Five of them areacyanotic; atrial septal defect, patent ductusarteriosus, ventricular septal defect, pure pul-monary stenosis and coarctation of the aorta, inorder of frequency. The sixth is cyanotic,Fallot's Tetralogy. In children surviving beyondinfancy, the acyanotic conditions outnumber thecyanotic by three or four to one. This, then, isthe first point to establish when setting about thediagnosis of any case: is it acyanotic orcyanotic ?
Detection of CyanosisThe florid case of cyanosis can be recognized at a
glance. Difficulty may occur in very youngchildren, in children of foreign parentage and whena dusky hue of the lips suggests cyanosis but theskin is otherwise pink. Clubbed fingers areseldom a help because if clubbing is obvious, sotoo is cyanosis; the earliest changes of clubbingraise the same uncertainties as the suspicious tingeof cyanosis. The haemopoietic tissues are at leastmoderately sensitive to changes in arterial oxygensaturation, and episodal cyanosis can often berecognized from a slightly increased haemoglobinlevel or red cell count. The simplest method ofuncovering episodal cyanosis is by comparing thecolour of lips and skin before and after exercise;if the fall in arterial oxygen saturation can bemeasured by oximeter or arterial puncture, somuch the better, but often the colour change isobvious and the question of cyanosis answered.
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February 1956 SOMERVILLE: Bedside Diagnosis of Congenital Heart Disease 63
Cyanotic AcyanoticRight Ventricle Left Ventricle Right Ventricle Left Ventricle
Pulmonary stenosis with [Tricuspid atresia.] Atrial septal defect. Patent ductus arteriosus.right-to-left shunt-usuallyFallot. Pure pulmonary stenosis. Ventricular septal defect.
Eisenmenger's group.Coarctation of aorta.
Transposition of greatLvessels.
(Conditions in brackets are uncommon.)
Detection of Right or Left VentricularEnlargementThe next step is to decide whether the right or
left ventricle is enlarged. If this can be done, afurther breakdown is possible along these lines.The two bedside guides to ventricular enlarge-
ment are the cardiac impulse and the ECG.With even a slight degree of left ventricular
hypertrophy, the apex has a localised thrustingquality, best sensed by the finger-tips in theappropriate interspaces. With well-developed leftventricular hypertrophy, in rheumatic more sothan congenital lesions, an additional sign issystolic retraction over the right ventricle, whichoften presents with the thrusting apex a strikingseesaw appearance.
In right ventricular enlargement the apex hassometimes a tapping quality, particularly in chil-dren, but more often this site-by definition thedownmost and outmost point at which cardiac
pulsations can be felt-is not helpful. This isbecause the enlarged right ventricle extends to theleft from the sternum, and its typical heaving orlifting impulse is therefore seen or felt in the leftpara-sternal region and not at the apex. This signis most obvious in atrial septal defect, when theright ventricular stroke output is increased, and lessso in pulmonary stenosis and Fallot's Tetralogy,when it is normal or reduced.
Sometimes, however, even the experiencedhand can be deceived by the cardiac impulse. TheECG is the surest guide to ventricular hyper-trophy and in most cases gives the answer ata glance.Cyanosis with Right Ventricular Hypertrophy
Fallot's Tetralogy will account for most casesunder this heading. The distinguishing physicalsigns are produced by pulmonary stenosis-asystolic murmur which is usually short and ends
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FIG. i.-Electrocardiogram (chest leads) in ventricular hypertrophy. Atrial septal defect is mentioned separately becausethe pattern of right bundle branch block is so characteristic of this condition that the bedside diagnosis shouldnever be made without it.
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64 POSTGRADUATE MEDICAL JOURNAL February 1956
well before the second sound and, when themurmur is loud, a thrill. The stenosis is usuallysituated in the infundibulum of the right ventricle,when the thrill and murmur are maximal in thethird or fourth left interspace. If they are higher,it means that the stenosis is high in the infundi-bulum or at the pulmonary valve. However, loudmurmurs in small children are difficult or impos-sible to localize, and often the nurmur gives noindication of the site of the stenosis. The secondheart sound may be loud and is almost invariablysingle, the pulmonary element (P2) being in-audible; if distinct splitting is confirmed, it makesthe diagnosis of Fallot highly improbable.*A related but anatomically different condition is
pulmonary stenosis with reversed inter-atrial shunt,sometimes called Fallot's Trilogy. The threecomponents are pulmonary stenosis, atrial septaldefect and right ventricular hypertrophy. Here,the aorta does not override the ventricular septum,and consequently there is no ventricular septaldefect. While cardiac catheterization may berequired for confirmation, there are five clueswhich may allow this condition to be distinguishedfrom Fallot's Tetralogy at the bedside. Three of
*The normal second heart sound has two audible com-ponents, A2 caused by closure of the aortic valve, andP2 closure of the pulmonary valve. In expiration, A2and P2 are fused and the second sound is single. In-spiration separates them slightly and the sound is split.
them result from the much higher pressuregenerated in the right ventricle in the Trilogy thanTetralogy:
(i) Prominent pre-systolic venous waves (' a'waves) are often seen in the neck; theyare seldom present in the Tetralogy.
(ii) The cardiac impulse of right ventricularhypertrophy is as a rule easily felt, whilein the Tetralogy, although present, itmay be inconspicuous.
(iii) The greater degree of right ventricularhypertrophy may be reflected in the ECGwhich often shows large inverted T wavesin all or most of the chest leads.
The remaining two clues are:(iv) The systolic murmur is longer than in the
Tetralogy where the blood leaves theright ventricle by two routes, thestenosed outflow tract and the aorta,the ventricle thereby emptying quickly.In the Trilogy, all the right ventricularblood must leave through the stenosis,emptying time is slower and the murmerconsequently longer.
(v) The X-ray appearances of Fallot's Tetra-logy with infundibular stenosis arecharacteristic. There is usually aconcavity on the left cardiac bordercorresponding to the pulmonary artery,in contrast to a convexity in the Trilogy
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February 1956 SOMERVILLE: Bedside Diagnosis of Congenital Heart Disease
caused by the post-stenotic dilatation ofthe pulmonary artery (Fig. 2).
Pulmonary atresia is an extreme form of Fallot'sTetralogy; atresia is substituted for pulmonarystenosis while the other three components remainthe same. Blood reaches the lungs via bronchialarteries which cause a continuous, machinery-likemurmur, well-heard on back and front of the chest,and usually on both sides. This murmur replacesthe systolic murmur and thrill of the Tetralogy.Two other conditions in this group, both un-
common, are worth mentioning; transposition ofthe great vessels and pulmonary hypertension witha right-to-left shunt (the Eisenmenger Group).In neither can a complete diagnosis be made by thebedside. However, many cases of transpositioncan be recognized by the combination of deepcyanosis with radiological pulmonary plethora.In pulmonary hypertension, there are prominentvenous 'a' waves in the neck, the pulmonaryartery may be palpable in the second left inter-space, a pulmonary systolic murmur may be slightor absent, there is a loud pulmonary systolic click,the pulmonary element of the second sound is loudand often palpable and a Graham Steell murmurof pulmonary incompetence may be heard.Catheterization is necessary to demonstrate anassociated septal defect or patent ductus arteriosus,or to prove over-riding of the aorta in the trueEisenmenger Complex.Cyanosis with Left Ventricular Hypertrophy
Tricuspid atresia is the only lesion of clinicalimportance under this heading. Cyanosis andclubbing are extreme.
Acyanotic Cases with Right VentricularHypertrophyAtrial Septal DefectThe main features are an easily visible and
palpable right ventricle and often the pulmonaryartery can be felt with the finger-tips in thesecond left interspace. When the shunt is large,the right ventricular pulsations are vigorous andheaving in quality. The overfilled right ventriclemay be felt extending from the sternum as far outas the left anterior axillary line and in this positionthere may be difficulty in distinguishing it froma hypertrophied left ventricle. The ECG shouldbe consulted to decide the point; right bundlebranch block is characteristic of atrial septaldefect (Fig. i) and the diagnosis should not bemade without it. A systolic murmur, loudestin mid-systole, is heard over the pulmonary arteryand when the shunt is large, there may be a thrill.The second sound is widely split in all phases ofrespiration. In one-third of the cases, a long softpulmonary diastolic murmur is present in the
third to fourth left interspaces when a greatlydilated pulmonary artery gives rise to pulmonaryincompetence. A shorter delayed diastolic murmurmay be heard at the apex, often with a loud andsharp first sound simulating mitral stenosis;these signs are currently believed to be the resultof a greatly increased blood flow through thetricuspid valve. The X-ray appearances arecharacteristic; the right atrium and ventricle andpulmonary artery are prominent and the pul-monary vascular shadows increased in number andsize (Fig. 3A).The child with an atrial septal defect may have a
perfectly normal appearance. Various congenitalstigmata, however, are fairly frequently seen, suchas arachnodactyly, high palate, chest deformities,syndactyly, polydactyly and deformities of theexternal ear.
Pulmonary StenosisFor some inexplicable reason, pulmonary
stenosis as an isolated lesion was until recentlyaforgotten disease. In I947, Helen Taussig wrotein the first edition of her book ' CongenitalMalformations of the Heart' that she had neverseen a proven case. Yet today, the diagnosis ismade routinely at the bedside. A pulmonarysystolic thrill and murmur filling systole are themain features. In some cases, an early systolicclick is heard over the right ventricle. Comparedwith atrial septal defect, the right ventricularpulsations are quieter, but more vigorous than inFallot's Tetralogy where they may be inconspi-cuous. Both elements of the second sound areheard in mild cases, the pulmonary element (P2)diminishing as the stenosis becomes more marked.In severe cases, pulmonary valve closure is in-audible and the second sound is single, A2 onlybeing heard. Other signs of severe pulmonarystenosis are giant venous ' a ' waves in the neck, aneasily palpable right ventricle and deeply invertedT waves in leads VI-4 of the ECG. The X-rayshows a prominent main pulmonary artery (post-stenotic dilatation) with decreased pulmonaryvascular shadows, depending on the severity of thestenosis (Fig. 3B).Even in severe cases of pulmonary stenosis,
symptoms may be absent or slight in contrast tothe invariably diminished exercise tolerance ofFallot's Tetralogy.Wood and others (I954) have recently described
the acyanotic type of Fallot's Tetralogy. Anatomi-cally it is identical with the commoner cyanotictype, but clinically, it may be confused withpulmonary stenosis or ventricular septal defect.Bedside recognition of this condition is not easybut the following clues should bring it to mind:there is more or less breathlessness on exercise
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66 POSTGRADUATE MEDICAL JOURNAL February 1956................ .. ~. ;..;.j................V. ............................................ ...' ......
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A BFIG. 3.-Teleradiograms of (A) atrial septal defect and (B) pure pulmonary stenosis. Both patients were girls aged I2.
Diagnosis was confirmed in each case by cardiac catheterization.
(unusual in a comparable case of pulmonarystenosis); a systolic thrill and murmur in the thirdto fourth left interspaces are followed by a singlesecond sound (distinguishing it from ventricularseptal defect); X-ray of the heart and pulmonaryblood vessels is usually normal and the ECG, as arule, shows some degree of right ventricularhypertrophy.Acyanotic Cases with Left VentricularHypertrophyPatent Ductus ArteriosusThe continuous machinery or Gibson murmur
in the pulmonary area is the tell-tale sign of patentductus arteriosus. The diagnosis should bequestioned if the murmur is loudest elsewhere,for other arterio-venous fistulae can give a similarmurmur, e.g. aorto-pulmonary fistula, pulmonaryarterio-venous aneurysm, ruptured aneurysm of asinus of Valsalva and bronchial collateral circula-tion. When the shunt through the ductus is large,the peripheral signs of vaso-dilatation will beprominent, such as a water-hammer pulse anddigital throbbing. A short mitral diastolic murmurproduced by an increased blood flow through themitral valve is a common finding. The ECG isnormal or shows some degree of left ventricularhypertrophy. The pulmonary vascular shadowsare increased radiologically, the pulmonary arterymore or less prominent and the left ventricleenlarged (Fig. 4A).
In a small number of cases, the murmur of thepatent ductus may lack the characteristic machineryquality. The commonest cause of this atypicalmurmur is associated pulmonary hypertension.The signs of right ventricular hypertrophy withcorresponding ECG changes will then be found.Indeed the discovery of pulmonary hypertensionin a young person should always indicate cardiaccatheterization to search for a patent ductus,for surgical closure, if effected in time, can resultin more or less reduction of the pulmonary pressure.Ventricular Septal Defect
In the mildest cases of ventricular septal defect(Roger's disease), neither ventricle is enlarged.In moderate and severe cases both are involved butthe localized hyperactive or thrusting pulsations ofthe left are more readily palpable. The mostconstant sign is a long systolic thrill and murmurextending throughout systole, enveloping thesecond sound and loudest at the third and fourthleft interspaces close to the sternum. Thesecond sound is usually difficult to hear throughthe murmur, but it can be picked up a little above,below or to one side of the loudest site of themurmur, and then both elements of the sound canbe heard.The ECG is normal in the mild cases. Other-
wise, the confirmatory signs of left ventricularenlargement are seen in V5-6 (Q waves, tall Rwaves and in the severe cases, ST and T wave
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February 1956 SOMERVILLE: Bedside Diagnosis of Congenital Heart Disease 67
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FIG. 4.-Teleradiograms of (A) patent ductus arteriosus-later ligated-in a girl aged 5, and (B) ventricular septaldefect, confirmed by cardiac catheterization in a girl aged 5.
changes). Tall secondary R waves or incompleteright bundle branch block indicating rightventricular enlargement, are found in VI-2.X-ray appearances vary from normality to more orless pulmonary plethora, enlargement of left andright ventricles, and prominence of the pulmonaryartery (Fig. 4B). The radiological findings arenot diagnostic, being similar to those of patentductus arteriosus, but they are valuable supportingevidence of ventricular septal defect.The above remarks refer only to uncomplicated
ventricular septal defect. Other lesions such asan aortic incompetence and pulmonary stenosismay be present at the same time and then acomplete diagnosis must depend on catheterstudies.
Coarctation of the AortaMeasurement of the blood pressure is a poor
diagnostic aid in congenital heart disease except incoarctation of the aorta. A rough estimate ofpulse tension may be made by applying pressure tothe brachial artery at the elbow with thumb orfinger until the radial pulse is obliterated. Withpractice, the fingers can be quickly trained torecognize increased tension. The femoral pulseshould then be sought, preferably with the foot infull lateral rotation which helps to uncover theartery in the groin. In coarctation, femoral
pulsations are usually present but are weak andwhen the pulse rate is not too rapid, a delay can beappreciated between the femoral and radial pulses.Collateral vessels can usually be seen and felt on theback in children over ten years. A systolicmurmur is heard over the precordium and theupper part of the back in or close to the mid-line.A short mitral diastolic murmur is common,probably caused by a slight congenital or rheu-matic deformity of the mitral valve. Aorticstenosis or incompetence is sometimes present,and at necropsy, a bicuspid valve is often found tobe the seat of these lesions. The ductus arteriosusis patent in IO per cent. of cases. Radiologically,the characteristic signs are rib-notching and adouble aortic knuckle.
Aortic and Subaortic StenosisA systolic murmur, often with a thrill, is best
heard in the aortic area and is transmitted to thecarotids. Sometimes it begins with an earlysystolic click. In contrast to the murmur ofmitral incompetence and ventricular septal defect,it is loudest in mid-systole and appears to endbefore the second sound. The aortic element ofthe second sound (A2) is normally audible overthe carotids and at the apex. In rheumatic aorticstenosis in adults it is absent in all but the mildestcases. It is difficult to be sure in children with
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68 POSTGRADUATE MEDICAL JOURNAL February 1956
aortic stenosis whether the origin of the secondsound is aortic, pulmonary or both, but in anyevent, it may be well heard even when the stenosisis undoubtedly severe. Neither is the pulse agood guide as it may be in adults, for when the rateis rapid, the interval between beats is too short toallow recognition of a distinctive pattern. Theradiogram may show a rounded ventricularshadow or left ventricular hypertrophy, but moreoften, and especially in young children, it is oflittle diagnostic value.
AcknowledgmentsIn compiling these facts, the writer has drawn
freely from the literature and from the teachingand experience of many. He is particularlyindebted to Dr. Paul Wood who initiated him inthe physical signs of congenital heart disease and toDr. Evan Bedford, his senior colleague at theMiddlesex Hospital.
BIBLIOGRAPHYWOOD, P. (1950), Brit. med. J., ii, 639.WOOD, P., MAGIDSON, O., and WILSON, P. A. O. (954),
Brit. Heart J., I6, 387.
RHEUMATIC DISORDERS(Postgraduate Medical Journal)
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INTRODUCTION: THE RHEUMATIC GOUTDISEASES R. M. MASON, D.M., M.R.C.P.F. DUDLEY HART, M.D., F.R.C.P.
RECENT ADVANCES IN THE PATHOLOGY THE RARER ARTHROPATHIESOF CHRONIC ARTHRITIS AND RHEU- F. DUDLEY HART, M.D., F.R.C.P.MATIC DISORDERSD. H. COLLINS, O.B.E., M.D., M.R.C.P. PHYSICAL METHODS IN THE TREAT-
RHEUMATOID ARTHRITIS MENT OF RHEUMATIC DISORDERSJ. J. R. DUTHIE, F.R.C.P.E. W. S. TEGNER, F.R.C.P.
OSTEOARTHRITIS THE SURGERY OF RHEUMATIC DISEASEG. C. LLOYD-ROBERTS, M.B., F.R.C.S. JOHN BASTOW, M.D., F.R.C.S.
Published byTHE FELLOWSHIP OF POSTGRADUATE MEDICINE
60, Portland Place, London, W.1
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