CLINICAL PROGRESSEditor: HERRMAN L. BLUMGART, M.D.Associate Editor: A. STONE FREEDBERG, M.D.

Unusual Forms of Heart DiseaseBy HOWARD B. BURCHELL, M.D.

AM in general accord with Hutchison's"Don'ts for Diagnosticians," the first twoof which read, "Don't be too clever" and

"Don't diagnose rarities." Hutchison1 himselfquoted Samuel Gee, who said, "Common thingsmost commonly occur," and it may be em-phasized that many rare cardiac conditionsperhaps could be all but forgotten, withoutloss, in day-to-day cardiologic practice. Un-usual manifestations of common diseases prob-ably mislead the physician more often than dounusual diseases. Rare conditions tend to bethe spice of practice, however, and constitutethe substratum whereon one's probing witsare tested. To a certain extent, also, missing ofthe diagnosis of a rarity is the bote noir of thespecialist.

Moreover, in this era of rapid transportation,the patient who has sought diagnosis withoutsuccess often travels far looking for specialhelp. Thus, by force of numbers, a raritybecomes less an event in a large institution thanin general practice. This fact is well known andis well exemplified in the discussions of con-sultants who participate in the "WeeklyClinicopathological Conferences" based on"Case Records of the Massachusetts GeneralHospital" and reported in The New EnglandJournal of Medicine. Some readers of thesereports, whose native language is other thanEnglish, must be perplexed by the high in-cidence of symptoms and signs which are

From the Mayo Clinic and the Mayo Foundation,Rochester, Minn. The Mayo Foundation is a part ofthe Graduate School of the University of Minnesota.A paper given before the San Francisco Heart

Association Postgraduate Symposium, October, 1953,with minor abridgments and editorial revisions forwhich the author acknowledges the help of Dr.Richard M. Hewitt, of the Section of Publications.

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designated as possible "red herrings." And themystification of such foreign visitors would befully as deep if they were present when one oranother of us, under the duress of a similarconference, became, and was called, "as in-dependent as a hog on ice."2

In cardiac clinicopathologic conferenceswhich I attend, of the difficult cases chosen forpresentation, some are selected because thediagnosis originally was missed, partly or en-tirely. We believe there is no "news leak";nevertheless, by the time the clinical part of theconference is over, at least three-fourths of thecases are accurately assessed. Thus, in ourclinic at least, if patients who constitute diag-nostic enigmas could be tagged at the time ofregistration, "Potential Conference Material,"and if they could appear at one of the clinico-pathologic conferences, the diagnostic accuracyof the consultants would increase several fold.The unusual cases wherein the cardiologist

might be at a loss for a diagnosis may beclassified as follows: (a) rare anatomic con-ditions, for example, Ebstein's malformation ofthe tricuspid valve, traumatic rupture of a

valve, primary neoplasm; (b) heart affected asan integral part of a general disease, for ex-ample, amyloidosis, lupus erythematosus,scleroderma, hemochromatosis; (c) cardiaccomplications of other disease, for example,diphtheria, purulent pericarditis, sickle cell andother anemias, thyrotoxicosis both overt andoccult, arteriovenous fistula, myocardial metas-tasis; (d) conditions precipitating or accelerat-ing the development of more usual forms ofacquired heart disease, for example, xantho-matosis, possibly obesity, myxedema; (e)conditions mimicking primary heart disease,for example, thrombosis or involvement of theinferior vena cava by tumor.

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The foregoing classification could be followedin this presentation although there are manyother approaches. A somewhat frantic person,searching for novelty, might write "A Cardi-ologist's ABC of Rarities," thus: A is foramyloid, B for beriberi; C is for contusion, D fordiphtheria; E is for Ebstein's, F for Fiedler's; Gis for glycogen storage, H for hemochromatosis,and so on. For the privilege of being representedby certain of the letters, there would be compe-tition among several conditions. Rare condi-tions would come to mind to correspond withevery letter except J and Z. That approach ad-mittedly is childish but, since it has beenmade, it could be followed'out, spottily, inrhyme:

Don't fail to note, in amyloidAbundant syndromes are deployed;And always with a heart contusionArise both doubt and much confusion.The palsy of diphtheriaMust not be thought hysteria.In hemochromatosis weDemand hepatic biopsy.

That, I hope, Dr. Bett3 would admit as"judicious levity." At all events it is not entirenonsense and what follows is serious. In anycomplete listing of abnormal cardiac con-ditions, many would fall into the category ofcontroversial states. The question whethersome of them actually exist often would haveto be answered: "Perhaps," or "Perhaps;probably." To many other questions positiveanswers cannot be given; here are some of thequestions: Can a thyroid nodule be responsiblefor auricular fibrillation in the absence of signsof hyperthyroidism? Can auricular fibrillation,which is present for many years, of itself resultin heart failure or cardiac enlargement? Whatare the basic faults in conditions called pres-bycardia or kyphoscoliotic heart disease (with-out pulmonary disease)? Could there be a basicphysiologic and anatomic defect in the formof anxiety neurosis, still frequently termed"neurocirculatory asthenia"?The first condition on the alphabetical list is

amyloidosis. This is not a particularly rarecondition; I see several cases a year. It appears

in either a primary or a secondary form. In theformer the heart is often seriously affected andheart failure is the predominant feature. Pri-mary amyloidosis may be chiefly manifest in anyof many organs or tissues, particularly in theheart, liver, kidneys and peripheral nerves.The similarity of the picture to that of chronicconstrictive pericarditis has been emphasizedand, in the two conditions, the same type ofcurve of abnormal filling of the ventricle maybe seen.4 In the presence of disease of manyorgans the diagnosis of primary amyloidosisshould be particularly considered. The diag-nosis is best confirmed by needle biopsy of theliver. Some of the problems encountered whena patient presents himself with the disease wererepresented in a clinical conference recentlyarranged by Pruitt, Daugherty and Edwards.5The term "amyloid," from the Greek word

for "starch," was coined because of the aviditywith which the abnormal substance takes upiodine, as does starch. This property aroused inHanson and McConahey,6 of our clinic, thehope that a tracer study with radioiodinewould be diagnostically useful. Their hope hasbeen substantiated in an occasional case butnot in others. In two of four cases the ex-trathyroidal disposal rate was high, and inone of these radioactivity over the liver andspleen was increased.Even secondary amyloidosis, although spar-

ing the heart, may not necessarily spare theheart specialist of a consultation. A case inpoint (and it may be used as the basis of a pleaagainst too early and too rigid subspecializa-zation) is the following:A middle-aged man complained of abdominal

pain and diarrhea of two years' duration. In addi-tion, he had lost weight, was weak and his legs wereedematous. Because of the last, a cardiologist wasasked to see the patient. The primary diagnoseswere regional ileitis, ileocolic fistula and possiblypelvic abscess. Surgical operation was necessaryin any event. In spite of appropriate treatment, how-ever, the patient died on the second day after opera-tion, with azotemia and in shock. On postmortemexamination, amyloidosis, mainly of the kidneysand adrenal glands, was found. It is of interest thatthese diagnoses were tentatively made in the clinico-pathologic conference, before the postmortem diag-nosis was disclosed.

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In my "ABC of Rarities," under B is foundberiberi. In the northern Mississippi Valley,this condition is rare indeed. In spite of oursuspicions when individuals, particularly al-coholics, present unusual types of heart failure,I believe there has not been a single establishedcase of beriberi heart failure in a Rochesterhospital in the past 10 years.Another disease in association with which

heart failure may be the presenting symptom ishemochromatosis. In about a fifth of the 13cases in which the diagnosis has been made inour clinic, heart failure has been present. Thequantity of pigment in the myocardium attimes has seemed sufficient to be responsible forthe heart failure. However, other contributingfactors, such as coronary disease accelerated bythe diabetic state, or possibly anemia frombleeding esophageal varices, must be suspected.

In an early paragraph of this article unusualcases in which the cardiologist might be at aloss for a diagnosis were classified. The con-ditions just discussed were in the secondcategory of that classification; that is, the heartwas affected as part of the general disease. Thefirst category of the classification included rareanatomic conditions and here, as an example, Ihave chosen Ebstein's malformation of the tri-cuspid valve. At the clinic we now have recog-nized nine cases. In this condition, the abilityof the right ventricle to impel an adequatequantity of blood into the lungs is impaired byreason of a misplaced, deformed tricuspidvalve. Sometimes there is tricuspid insuf-ficiency, sometimes not. The characteristics ofthe syndrome are varying cardiac enlargement,clear lung fields and low pressure in the rightside of the heart as determined by cardiaccatheterization. The electrocardiogram notinfrequently gives evidence of right bundle-branch block. In the majority of the cases thereis an associated atrial septal defect, whichallows a right-to-left shunt, and resulting mildto moderate cyanosis. If the patient is seenbefore heart failure has entered the situationand the shunt is copious, closure of the atrialseptal defect may be considered. In Rochesterthis was done in one case and the patient, whopreviously had been nearly an invalid, hasbeen able to lead a normal, active life. After

the operation, arterial oxygen saturation be-came normal. Sometime in the future heartfailure may develop, but, from the point of viewof amelioration of the condition, the operationhas been an outstanding success.

In passing, mention may be made of onecongenital condition which, previously thoughtto be rare, is now recognized as relativelycommon. This is isolated pulmonary stenosis,perhaps more properly called "pulmonarystenosis with intact ventricular septum." Insome cases there is obvious, or gross, shuntingof venous blood through atrial septal defects;in others, the shunt is minimal and is demon-strable only by special technics, such as centralinjection of dye; in some, the shunt may beconsidered only potential; in still others, theshunt is left-to-right through an atrial septaldefect; finally, in some cases the atrial septumis intact and no shunting of blood is possible.Among anatomic rarities, the cardiac and

vascular defects associated with Marfan'ssyndrome and the syndrome associated withanomalous origin of the left coronary arteryfrom the pulmonary artery should be remem-bered. Another anomaly, one in which surgicalmeasures may be lifesaving, is a form of ob-struction to venous outflow from the lungs; itthus simulates mitral stenosis, and is called"cor triatriatum." Edwards and I7 believe thecondition is related to congenital stenosis of acommon pulmonary vein. Our patient was aninfant, but in Borst'ss case the patient lived toadulthood and, incidentally, the auscultatoryfindings were those of mitral stenosis.To depart from the order of the classification,

other conditions that have simulated mitralstenosis are worthy of mention. Such con-ditions are acquired stenosis of the pulmonaryveins9 and left atrial tumor.'0 The case of theformer condition with which I am familiar isbelieved to be particularly pertinent to thepathogenesis of arterial lesions of the lung,because the arterial lesions were predominantlyin the lobes which corresponded with the moremarked venous obstructions. The left atrialtumors which I have in mind are polypoidmasses which usually are designated asmyxomas. But some of these masses might beconsidered, by some pathologists, not to be

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true tumors but organized thrombi. That theone can mimic the other is unquestionable.Particularly in the presence of a normal mitralvalve, however, a cellular mass with a stalk,accompanied by deep disruption of the atrialwall, is a tumor, both in my opinion and in thatof Pritchard," who studied a large series.

In a number of cardiac states a patient'scondition may suddenly change. Among thesestates are spontaneous rupture of valves, ofchordae tendinae, or of aortic sinus aneurysms.It is considered best not to use the word"spontaneous" in relation to that type ofrupture of chordae tendinae which occursafter myocardial infarction. In one case ofmitral insufficiency reported by Becker, Ed-wards and me,12 the date of rupture seemedestablished and the patient lived approximatelya year. Within this type pulmonary arterialchanges developed.

Edwards'3 mentioned another most unusualcase of corrected complete transposition of thegreat vessels in which the left atrioventricularvalve simulated the tricuspid valve and wasinsufficient.

Aortic sinus aneurysms frequently ruptureinto the right side of the heart and a continuousbruit, like that of patent ductus arteriosus,results. The sudden onset of weakness ordyspnea coincident with the appearance of sucha bruit is clinically diagnostic. Substantiationmay be had from cardiac catheterization,whereby arterial blood is obtained from theright atrium or ventricle. Aneurysms usuallyare in either the right anterior or the posterioraortic sinus. Those in the former situation notinfrequently are associated with a ventricularseptal defect. When rupture in this area occurs,it is into the outflow tract of the right ventricle,whereas lesions in the posterior aortic cusprupture into the right atrium. As a corollary,when "arterialization" is found in the rightatrium, the lesion, as compared with an anteriorone, should be more amenable to surgical treat-ment, either from the atrial or the aortic side,because it could be more easily located and itsorigin would not be associated with the originof a coronary artery; the posterior aortic cuspis the "noncoronary" one. It is well to em-phasize that a rupture with a remarkably small

orifice (2 to 3 mm.) may give rise to heartfailure in this condition. Kirklin"4 has un-

successfully attempted to close one suchrupture of a posterior aortic cusp aneurysmthrough a right atrial approach.

Idiopathic pulmonary hypertension remainsan enigma from the etiologic viewpoint. Atpresent, its rapid course makes it seem unlikelythat it bears any direct etiologic relationshipto systemic primary hypertension. If primarypulmonary hypertension ever is akin to thesystemic type, it very rarely is so. When severepulmonary hypertension develops, whetherfrom pulmonary arterial lesion includingemboli, or perchance from primary pulmonaryhypertension, and right heart failure ensues,there may develop a cyanotic condition relatedto functional opening of a foramen ovale. Thiscondition has been seen at the clinic on a num-ber of occasions and, by the dye indicatormethod, the site of a right-to-left atrial shuntclearly has been demonstrated."5The term, "idiopathic acute pericarditis"

and the condition it denotes may be regarded asrelatively commonplace. It is important toemphasize, however, that diagnostically, theterm is indefinite. It is well, always, to con-sider etiologic possibilities and, if reversion tohealth or of the cardiac silhouette to normalsize is delayed, pericardial biopsy shouldbe considered. By such a measure granuloma-tous or neoplastic disease may be discoveredin time to allow appropriate management to beinstituted.

Occasionally heart failure is related tosystemic arteriovenous fistula. The last caseof this sort encountered in Rochester was thatof a young man who was referred there becausehe was in desperate straits from the effects of afistula involving the aorta and inferior venacava, which had been recognized followingoperation for a protruded lumbar disk. Kirk-lin'4 successfully performed aortic graft andthe patient has returned to normal health.Since the report of Edholm and associates'6on heart failure in association with Paget'sdisease, cases of this disease have been ob-served at the clinic in which there was a highnormal cardiac output, but in none of thecases was the heart failing. In one case in

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which Paget's disease was markedly localizedto one tibia, there was found arterialization inthe femoral vein, as compared with that in thecontralateral limb, and a slight bradycardicresponse was elicited on digitally occluding thefemoral artery.A common noncardiac condition that not

infrequently is treated as a heart condition isemphysema. Although heart failure may be anassociated condition, such association is un-common. There are certain obese, middle-agedwomen with lipedema, whose fluid balancemarkedly and rapidly varies, sometimes withmenstrual cyclic changes. Although one patientin this category is seen every month or so, andgives a convincing story of marked diuresisfollowing administration of a mercurial diuretic,not one has had significant edema at the timeof my consultation.A rare condition superficially suggesting

heart disease is that related to a renal tumor,with invasion and obstruction of the inferiorvena cava. One of these cases is found eachyear or so at the clinic. It is possible for deathto occur from a huge pulmonary embolus con-sisting of tumor tissue. Occasionally cases ofphlebothrombosis of the lower extremities maybe transiently suspected of being cases of heartfailure. In this connection it is worth re-emphasizing that apparently idiopathic venousthrombosis carries a high correlation withneoplastic disease, particularly with that of thepancreas. Absence of cervical venous engorge-ment practically should exclude heart diseaseas the underlying cause of edema of the legrelated to obstruction of the inferior vena; yetit is remarkable how often this simple sign isnot sought. Even in the reverse situation-thatis, when cervical venous engorgement is presentand crying for recognition-it may be dis-regarded for a long time. Consequently, chronicconstrictive pericarditis may be labeled,erroneously, portal cirrhosis.

In spite of many advances in knowledge ofheart disease, patients who come to thephysician with symptoms of circulatory de-ficiency and enlarged hearts, may improve,depart, and diagnosis never may be establishedin their cases, not even by the regrettablemethod of postmortem examination. It is easy

to label such cases rheumatic or viral myo-carditis, but there is an intellectual dissatis-faction in complete acceptance of such diag-noses. Viral myocarditis as an entity is wellestablished but certainly is a rarity, difficult ofexact etiologic substantiation and difficult ofassessment as regards the amount of histologicchange to correlate with the clinical picture.Much is left untouched in this survey of the

cardiologist's role in recognition of the unusualsyndromes with which he may be confronted.For instance, the whole field of unusual elec-trocardiograms has not been entered because,although they are important, it is only oc-casionally that they are related directly to thepatient's presenting symptoms. Clinical prac-tice often gives evidence of the truth of the oldadage that to think of a rarity is practically toexclude it. Particularly in teaching institutions,and especially in the early years of teaching, anunusual problem offers a temptation to adoptdesperate measures in the attempt to obtaina diagnosis. It is best sometimes to leave thediagnosis indeterminate, particularly whentests that might be employed entail danger orworrisome expense and cannot lead to definitivetreatment. As Jeans has been quoted assaying: "A living problem is better than a deadcertainty."17An ABCD of rarities ought to end with

W, X, Y, Z. This one can so end ifW is allowedto stand for work hypertrophy, X for xantho-matosis, Y for yellow fever heart, and Z forzootomic hearts. Then, with some license as tostressed syllables, the following so-calledcouplets emerge:

Work hypertrophy may have been foundIn coolies pulling jinrickshas round.A precocious status anginosisIs one that's called xanthomatosis.An evil virus, at least in part,Is the cause of yellow fever heart.Last come the strange zootomic hearts,Not known or seen within these parts.

REFERENCES

1 HUTCHISON, R.: Some Principles of Diagnosis,Prognosis and Treatment. Bristol, John Wright& Sons, 1928.

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2 FUNK, C. E.: A Hog on Ice and Other CuriousExpressions. New York, Harper, 1948.

3 BETT, W. R.: A Little Judicious Levity, AfterDinner Address. Meeting of American MedicalWriters' Association, Springfield, Ill., Sep-tember 23, 1953.

4 HETZEL, P. S., WOOD, E. H., AND BURCHELL,H. B.: Pressure pulses in the right side of theheart in a case of amyloid disease and in acase of idiopathic heart failure simulatingconstrictive pericarditis. Proc. Staff Meet.,Mayo Clin. 28: 107, 1953.

5 PRUITT, R. D., DAUGHERTY, G. W., AND ED-WARDS, J. E.: Congestive heart failure inducedby primary systemic amyloidosis: A diagnosticproblem. Circulation 8: 769, 1953.

6 HANSON, N. 0., AND MCCONAHEY, W. M.: Un-published data.

7 EDWARDS, J. E., DUSHANE, J. W., ALCOTT, D.W., AND BURCHELL, H. B.: Thoracic venousanomalies. III. Atresia of the common pul-monary vein, the pulmonary veins drainingwholly into the superior vena cava (case 3). IV.Stenosis of the common pulmonary vein (cortriatriatum) (case 4). Arch. Path. 51: 446, 1951.

8 BORST: Ein cor triatriatum. Verhandl. deutsch.path. Gesellsch. 9: 178, 1905.

9 EDWARDS, J. E., AND BURCHELL, H. B.: Multi-lobar pulmonary venous obstruction withpulmonary hypertension: "Protective" arterial

lesions in the involved lobes. Arch. Int. Med.87: 372, 1951.

10 BLOCK, W. J., PARKER, R. L., AND EDWARDS,J. E.: Cardiac clinics. CXXXIX. "Myxoma"of the left atrium clinically simulating mitralstenosis: Report of case and pathologic studies.Proc. Staff Meet., Mayo Clin. 27: 361, 1952.

11 PRITCHARD, R. W.: Tumors of the heart: Reviewof the subject and report of one hundred andfifty cases. Arch. Path. 51: 98, 1951.

12 BECKER, D. L., BURCHELL, H. B., AND EDWARDS,J. E.: Pathology of the pulmonary vasculartree. II. The occurrence in mitral insufficiencyof occlusive pulmonary vascular lesions. Circu-lation 3: 230, 1951.

'3 EDWARDS, J. E.: Differential diagnosis of mitralstenosis: A clinicopathologic review of simulat-ing conditions. Lab. Invest. 3: 89, 1954.

14 KIRKLIN, J. W.: Unpublished data.15 SWAN, H. J. C., AND WOOD, E. H.: Localization of

cardiac defects by dye-dilution curves re-corded after injection of T-1824 at multiplesites in the heart and great vessels duringcardiac catheterization. Proc. Staff Meet.,Mayo Clin. 28: 95, 1953.

16 EDHOLM, O. G., HOWARTH, S., AND McMICHAEL,J.: Heart failure and bone blood flow in osteitisdeformans. Clin. Sc. 5: 249, 1945.

'7 BARRETT, N. R.: Foreign bodies in the cardio-vascular system. Brit. J. Surg. 37: 416, 1950.

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HOWARD B. BURCHELLUnusual Forms of Heart Disease

Print ISSN: 0009-7322. Online ISSN: 1524-4539 Copyright © 1954 American Heart Association, Inc. All rights reserved.

is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231Circulation doi: 10.1161/01.CIR.10.4.574

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