Cardiac hypertrophy of unknown cause

CARDIAC

HYPERTROPHY

OF UXKNOWN

CAUSE

REPORT OF A CASE

GEORGEH. REIFENSTEIS,M.D., SND A. I~WIGHT CEIIDSET, M.D. SI-RACVSE, N. j-.

H

YPERTROPHT of the heart occurs ::s a rer:u!: of sonic physio!ogic or pathologic disturbance. In most instances, the mechanism is apparent. There have been, however. a group of casesof myocardial hypertrophy for which no definite cause has been demonstrated. In most of these, the hypertrophy has been associated with endocardial fibrosis and varying degrees of myocardial degeneration, and has occurred in infant.s and children up to 4 years of age.‘+ Various theories have been postulated to account for the changes; these include intrauterine infection during the early days of life, “congenital weakness of the germ plasm, “I and allergic reaction to milk in a heart which was already damaged by infection.z RugeP has spoken of these as cases of “non-suppuratire myocardial degeneration with dilatation and hypertrophy. ” Similar cases have been reported in which hypertrophy and endocardial fibrosis occurred without myocardial degeneration.ll 5 There are few, reports of obscure cardiac enlargement in older children and adults, probably because of the multiplicity of physiologic or pathologic disturbances which occur with age and :might more readily account for the changes within the organ. Whittle” reported one case of an apparently well-developed 20-year-old student who fell from his bicycle and died within a few moments. Post-mortem examination revealed a markedly hypertrophied heart,, weighing 840 grams. The valves, endocardium, and coronary arteries appeared normal. The aorta was somewhat small and delicate, and measured 16 mm. in dimeter at the commencement of the descending portion. There were no other congenital anomalies. The only additional gross abnormalities were an acute tracheitis and a persisting thymus gland, weighing 30 grams. Histologic study of the heart showed smelling and loss of striat,ion of the muscle fibers, with no foci of inflammation or necrosis. All of the other organs appeared normal. The author felt that neither the narrowed aorta nor the persistent thymus COL&I have accounted 1101’ tllc marked cardiac enlargement, although the acute tracheal infection might have been responsible for the cloudy swelling of the myoeardial fibers. He postulated that prolonged muscular exertion of cycling might have played an important factor. From the Dwartment of Pathology, Syracuse University Received for publication Sept. 9, 1943. I!?7

College of Medicine.

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AXD

CHIDSEY

:

CARDIAC

12!1

HYPERTROPHY

stood out distinctly. The wall of the left vent,ricle measured up to 3.5 cm. in thickness. There was a reduplication of the left cusp of the pulmonary valve; the fourth cusp appeared rather small, and showed some Otherwise, the valves and remainfenestration along the free margin. ing endocardium were without evident lesions. The foramen ovale and ductus arteriosus were closed. The coronary ostia were normal in size and location; the vessels throughout were patent, and showed no intimal sclerosis. There was no narrowing of t hc aorta or of any of the great vessels arising from it.

Fig.

l.-Heart

muscle

; idiopathic

hypertrophy (X710).

showing

glycogen

stain

with

droplets

The other organs showed no noteworthy changes. Microscopically, the brain showed some edema. There was hyperplasia of the thymus, with ra.ther numerous polymorphonuclear leucocytes in the pulp. The liver, kidneys, lungs, and other organs appeared to be entirely without evident lesion. There were no vascular changes. There was marked hypertrophv of the muscle fibers of the mpocardium, with very slight diffuse increase in fibrous tissue between the muscle bundles. There was no vacuolization of the muscle fibers, and

130

AMERICAN

HEART

.JOllRN,\I,

Quantitative analysis of the myocardial glywgcrl I)>- hydrolysis aad the Benedict micro methodI* showed 0.16 per cent glycogen, as contrasted with a normal of’ 0.07 per cent. Best carmine stains of the kid-

KEIFENSTEIN

AND

CHIDSEY

ney showed no evidence of glycogen. normally large amonnt of glycogen; were not made.

:

CARDIAC

131

HYI’ERTROPI-IT

The liver did not cont,ain an ahchemical analyses of these tissues

It is of interest to note the clinical and gross pathologic similarities between this case and the one reported by Gardner and Simpson13; their patient was an ll-year-old, apparently healthy schoolboy who suddenly collapsed and died while playing in the street. Post-mortem examination revealed a heart which was very greatly enlarged, weighing 384 grams, due chiefly to thickening of t,he left ventricle. So congenital anomaly was recorded. All other organs a.ppeared normal. Histologic study showed imperfect transverse and longit,ndinal striations of the heart muscle fibers dne to a “pale foaminess.” This appearance was the result of abnormal deposition of glycogen, as demonstrated by the Best carmine stain. The liver showed a similar, but, less marked, change. No qnantitative chemical studies were made, but the authors stated that t,he cardiac enlargement was due to glycogen disease. In our case it is felt that the moderate increase in myocardial glycogen was possibly physiologic and commensurate with the degree of cardiac hypertrophy. At least it can be definitely stated that the increase in the size of the heart was not accounted for by increase in glycogen, as shown in the sections or by chemical analysis. The cause of the hypertrophy was not found; certainly none of the usual factors ran account for it,. There was no vascular evidence of prolonged hypertension. The absence of scarring or myocardial degenerative changes is evidence against previous rheumatic, diphtheritic, and other infections or “toxic” causes of heart disease. The presence of a four-cusped pulmonary valve could not have been significant, and no other anomalies were fol7nd. To eonidiopathic” type I, ’ does not help, and no other sider the “congenital etiological factors are apparent. It is remarkable that such marked hypertrophy could exist withol7t some evidence of circulatory embarrassment before sudden death. SUMMARY

A case of sudden death in an apparently healthy, Il-year-old schoolboy is presented. Marked cardiac hypertrophy was found at autopsy. The cause of the hypertrophy was not discovered. REFERENCES 1. Kugel, M. A., and Stoloff, E. G.: Dilatation and Hypertrophy of the Heart in Infants and Young Children, Am. J. Dis. Child. 45: 528, 1933. 2. Mahon, G. S.: Idiopathic Hypertrophy of the Heart With Endocardial Fibrosis, AM. HEART J.12: 608, 1936. 3. Kugel, M. A.: Enlargement of the Heart in Infants and Young Children, AM.

HEART J.17:

4. Weisman,

602,3939.

8. J.:

Congenital

Idiopathic

Cardiac

Hypertrophy,

Arch.

Path.

33:

365. 1942. 5. Power;, G. F., and pathic Hypertrophy

Le Compte, P. M.: Remarks on a Case of Congenital of the Heart, J. Pediat. 13: 760, 1938.

Idio-