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Congenital Rhabdomyoma of the Heart
CONGENITAL RHABDOMYOMA OF THE HEART CARL
H.
ILL,
M.D.,
AND JOHN
w.
(JRAY,
1\I.D.,
NEWARK,
N. •J.
( F·rom the D·epa!l'tment of Obstetrics a•nd Pathology, Ho8.pital of St. Barna.bas)
cONGENITAL rhabdomyoma of the heart is an exceedingly rare tumor. 'rhis. case is being reported, therefore, for this reason and because, clinically, the baby presented the signs of a cranial hemorrhage. Mrs. F., aged twenty-four years, Jewish, first consulted me Jan. 12, 1934, being pregnant the second time. Her past history was essentially negatiw. Her first pregnancy two years before was normal and she bad a spontaneous delivery after being in labor twelve hours. The baby did well for two days, when it suddenly showed signs of cranial hemorrhage, and in spite of lumbar puncture, numerous infusions and transfusions, it died on the tenth day. There was no autopsy; elinical diagnosis '\Vas cranial he1norrhage according to the doctor ''·~ho took rnrfl of her. At the time of the first visit, her general physieal l'Ondition was entirely normal; weight 134 pounds, blood pressure 120, urine negutiYe. Her pelvis was of the normal female type. She had spent a great deal of time in the sun; back, arms, and legs being very tanned. Position of the child was L.O.A., head in midpelvis, rervix dilated ~ em. two weeks before delivery. She delivered on July 27, spontaneously, of a male child, weighing 7% pounds. Pains never were hard and she was in labor only five hours. The baby cried immediately after being born, heart rate being 130 and rhythm normal. The baby did very well for forty-eight hours; rolor was good; tlw only abnormal feature being that he wouhl not nurse well. Suddenly, just fort~' eight hours after birth, the baby was cyanotic, limp, and flaeeid, gasping for breath, and had a small stridulous cry. On examination lungs were clear, heart sounds were quite distant, and he had a peculiar gallop rhythm. In the belief that this was a l'ranial hemorrhage, lumbar puncture was donP, fluid under no pressure and elear The child was giv0n oxygen and ;) per rent enrlJon dioxide, lived an hour and suddenly died. Autopsy.-The general appearance was thnt of a well-developed infant two clays of age, somewhat cyanotie. The external examinntion r~vealed no skin lesions, r\·iden~e of traumatism or enlargenumt of tlw supE.'rficial lymph nodes.
The surfaee vessels of the brRin were congested but no external or internal hemorrhages or srlerosis were observed. Tht>rc wns no fluid in the pleural cavities. '!'he oases of the lungs were congested and the upywr lohPs were spotted with red semisolid areas. The thymus was normal in size and eonsistenc·y. Tlwre was no enlargement of thE.' mediastinal lymph nodes. The abdomen contained an exet>ss of straw colored fluid. The stomach and intestines appeared normal. The liver and spleen were enlarged apparently from congestion. The suprarenals and kidne.vs showed no pathology. There was no excess of fluid in the pericnnlial sHe. 'rhc heart presented a peculiar, enlarged, deformed nppearanee. Bulging from the anterior surface, particularly from the left ventricular wall and intimately associated with it, there was a large yellowish tumorlike mass. Beneath the perieardium small yellow colored nodules were seen. The heart weighed 45 grams. 264
ILL-GRAY :
RHABDOMYOMA OF HEART
265
On opening the heart, the right auricle a nd ventricle were distended with clotted blood. The large bulging, irregular, oval mass in the left ventricle and anterior portions of the interventricular septum measured 4.5 by 3.5 em. The tumor was encapsulated and the cut surface was grayish yellow in color and its consistency
Fig. 1.--Heart with the large encapsulated tumor of ventricular wall incised and laid open.
Fig. 2.-Heart with left ventricle exposed showing a small part of the large tumor to the left, smaller tumor partially occluding the atrophic ventricle and the narrowed aortic orifice.
spongy. The left ventricular cavity was almost completely filled by another globular tumor about 1.5 em. in diameter. A very small growth 0.5 em. in diameter was present in the interventricular septum and a few tiny yellow nodules were found beneath the endocardium. The musculature of the left ventricle was only 3 mm. in
266
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
thickness. The mitral valves were poorly developed, the left auricle was extremely small, and the aortic valve was narrowed (12 mm. in diameter). The wall of the right ventricle measured 5 mm. in thickness, the pulmonary valve 2 em. in diameter. The columnae carinae of the ventricle and the papillary muscles
Fig. 3.-Photomicr ograph of tumor s howing numerous vacuoles a nd t ypical cells.
X250.
Fi;;. 4.-Photomlcrophograph of tumor. Note "spider cells" with thick protoplasmic walls and vacuoles lying between cell processes. X45.0.
were markedly hypertrophied. The bicuspid valve was dilated and measured 4 em. in diameter. The right auricle showed a marked hypertrophy of the musculature and dilatation of the cavity. The alveoli of the lungs contained an exudate which was largely composed of blood and some of the bronchioles contained blood. The liver was congested. The sinusoids
ILL-GRAY:
RHABDOMYOMA OF HEART
267
of the spleen were congested with blood. The thymus and suprarenal were normal. Kidney tubules moderately swollen and congested. Unfortunately the brain was not preserved for microscopic examination. Heart examination: Sections from the large tumor showed it to be surrounded by a dense fibrous capsule. The capsule was surrounded by essentially normal myocardiun.. The spongy tumor presented numerous large vacuolated spaces irregular in size. Some of the spaces were empty while others contained large centrally placed ,,ens with numerous processes extending outward in the spaces or to the thick protoplasmic walls of the spaces (Seiffert likened the cells to spiders in their webs and th( characteristic cell of this tumor has since been called the "spider cell") . The pr•Jcesses were striated. 'l'he cells contained one, and sometimes two nuclei. Connective tissue trabeculas surrounded the spaces. The histologic structure of this tumor was characteristic of congenital rhabdomyoma of the heart. This case is the fourth reported in American literature and the forty-fourth on record. An excellent critical review of the subject was made by l!,arber2 in 1931 in connection with his case report. Although the tumor is observed most frequently in infants a few days or a few months of age, 17 of the 44 cases were one to fourteen yearil of age and 6 occurred in adults. Tuberous sclerosis was present in 25 out of 33 eases where the head was mentioned. To a lesser degree there have been reported kidney tumors of various types, adenoma of the skin and certain other developmental anomalies. The true nature of the tumor as the beginning of muscle fibril formation was established by Wolbach.3, 4 He showed that the vacuoles were intracellular, that the ero~s striations were formed of fuchsinophil granules grouped in the sarcous elements, and that longitudinal striations were made up of alternating sarcous elements and basophilic fibrillary material. He also showed that similar cells may be found in the fetal myocardium. The resemblance of the cells to Purkinje 's cells and those of the conducting bundles of the heart was mentioned by Knox and Schorer.5 PonfickS called attention to the association of rhabdomyoma of the heart and tul•erous sclerosis and described a diffuse :fibrillary gliosis limited to the gray matter. Bonome7 traced the pathogenesis to fetal malnutrition resulting in :fibrous overgrowth of the heart and separation of embryonal cell nests. While the interest of these rare conditions lies partly in their clinical significance, their chief interest to the pathologist lies in the realm of pathogenesis. We now know the nature of congenital rhabdomyoma of the heart but until the deviations from the normal in fetal growth can be explained, the etiology and pathogenesis remain obscure. REFERENCES
(1) Seiffer'ti: Verhandl. d. deutsch. path. Gesellseh. 3: 64, 1901. (2) FOII'ber, S.: Am. J. Path. 7: 105, 1931. (3) Wolbach, S. B.: J. Med. Res. 16: 495, 1907. (4) Wolbadh, S. B.: Anat. Record 37: 225, 1928. (5) Krwx, J. H. M., ood Sohorer, E. H.: Arch. Pediat. 23: 561, 1926. (6) Ponfiolc: Verhandl. d. deutsch. path. Gesellsch. 4: 226, 1901. (7) BMome: Atti Instit. Veneto d. sc. 63, pt. 2.
H.
ILL,
M.D.,
AND JOHN
w.
(JRAY,
1\I.D.,
NEWARK,
N. •J.
( F·rom the D·epa!l'tment of Obstetrics a•nd Pathology, Ho8.pital of St. Barna.bas)
cONGENITAL rhabdomyoma of the heart is an exceedingly rare tumor. 'rhis. case is being reported, therefore, for this reason and because, clinically, the baby presented the signs of a cranial hemorrhage. Mrs. F., aged twenty-four years, Jewish, first consulted me Jan. 12, 1934, being pregnant the second time. Her past history was essentially negatiw. Her first pregnancy two years before was normal and she bad a spontaneous delivery after being in labor twelve hours. The baby did well for two days, when it suddenly showed signs of cranial hemorrhage, and in spite of lumbar puncture, numerous infusions and transfusions, it died on the tenth day. There was no autopsy; elinical diagnosis '\Vas cranial he1norrhage according to the doctor ''·~ho took rnrfl of her. At the time of the first visit, her general physieal l'Ondition was entirely normal; weight 134 pounds, blood pressure 120, urine negutiYe. Her pelvis was of the normal female type. She had spent a great deal of time in the sun; back, arms, and legs being very tanned. Position of the child was L.O.A., head in midpelvis, rervix dilated ~ em. two weeks before delivery. She delivered on July 27, spontaneously, of a male child, weighing 7% pounds. Pains never were hard and she was in labor only five hours. The baby cried immediately after being born, heart rate being 130 and rhythm normal. The baby did very well for forty-eight hours; rolor was good; tlw only abnormal feature being that he wouhl not nurse well. Suddenly, just fort~' eight hours after birth, the baby was cyanotic, limp, and flaeeid, gasping for breath, and had a small stridulous cry. On examination lungs were clear, heart sounds were quite distant, and he had a peculiar gallop rhythm. In the belief that this was a l'ranial hemorrhage, lumbar puncture was donP, fluid under no pressure and elear The child was giv0n oxygen and ;) per rent enrlJon dioxide, lived an hour and suddenly died. Autopsy.-The general appearance was thnt of a well-developed infant two clays of age, somewhat cyanotie. The external examinntion r~vealed no skin lesions, r\·iden~e of traumatism or enlargenumt of tlw supE.'rficial lymph nodes.
The surfaee vessels of the brRin were congested but no external or internal hemorrhages or srlerosis were observed. Tht>rc wns no fluid in the pleural cavities. '!'he oases of the lungs were congested and the upywr lohPs were spotted with red semisolid areas. The thymus was normal in size and eonsistenc·y. Tlwre was no enlargement of thE.' mediastinal lymph nodes. The abdomen contained an exet>ss of straw colored fluid. The stomach and intestines appeared normal. The liver and spleen were enlarged apparently from congestion. The suprarenals and kidne.vs showed no pathology. There was no excess of fluid in the pericnnlial sHe. 'rhc heart presented a peculiar, enlarged, deformed nppearanee. Bulging from the anterior surface, particularly from the left ventricular wall and intimately associated with it, there was a large yellowish tumorlike mass. Beneath the perieardium small yellow colored nodules were seen. The heart weighed 45 grams. 264
ILL-GRAY :
RHABDOMYOMA OF HEART
265
On opening the heart, the right auricle a nd ventricle were distended with clotted blood. The large bulging, irregular, oval mass in the left ventricle and anterior portions of the interventricular septum measured 4.5 by 3.5 em. The tumor was encapsulated and the cut surface was grayish yellow in color and its consistency
Fig. 1.--Heart with the large encapsulated tumor of ventricular wall incised and laid open.
Fig. 2.-Heart with left ventricle exposed showing a small part of the large tumor to the left, smaller tumor partially occluding the atrophic ventricle and the narrowed aortic orifice.
spongy. The left ventricular cavity was almost completely filled by another globular tumor about 1.5 em. in diameter. A very small growth 0.5 em. in diameter was present in the interventricular septum and a few tiny yellow nodules were found beneath the endocardium. The musculature of the left ventricle was only 3 mm. in
266
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
thickness. The mitral valves were poorly developed, the left auricle was extremely small, and the aortic valve was narrowed (12 mm. in diameter). The wall of the right ventricle measured 5 mm. in thickness, the pulmonary valve 2 em. in diameter. The columnae carinae of the ventricle and the papillary muscles
Fig. 3.-Photomicr ograph of tumor s howing numerous vacuoles a nd t ypical cells.
X250.
Fi;;. 4.-Photomlcrophograph of tumor. Note "spider cells" with thick protoplasmic walls and vacuoles lying between cell processes. X45.0.
were markedly hypertrophied. The bicuspid valve was dilated and measured 4 em. in diameter. The right auricle showed a marked hypertrophy of the musculature and dilatation of the cavity. The alveoli of the lungs contained an exudate which was largely composed of blood and some of the bronchioles contained blood. The liver was congested. The sinusoids
ILL-GRAY:
RHABDOMYOMA OF HEART
267
of the spleen were congested with blood. The thymus and suprarenal were normal. Kidney tubules moderately swollen and congested. Unfortunately the brain was not preserved for microscopic examination. Heart examination: Sections from the large tumor showed it to be surrounded by a dense fibrous capsule. The capsule was surrounded by essentially normal myocardiun.. The spongy tumor presented numerous large vacuolated spaces irregular in size. Some of the spaces were empty while others contained large centrally placed ,,ens with numerous processes extending outward in the spaces or to the thick protoplasmic walls of the spaces (Seiffert likened the cells to spiders in their webs and th( characteristic cell of this tumor has since been called the "spider cell") . The pr•Jcesses were striated. 'l'he cells contained one, and sometimes two nuclei. Connective tissue trabeculas surrounded the spaces. The histologic structure of this tumor was characteristic of congenital rhabdomyoma of the heart. This case is the fourth reported in American literature and the forty-fourth on record. An excellent critical review of the subject was made by l!,arber2 in 1931 in connection with his case report. Although the tumor is observed most frequently in infants a few days or a few months of age, 17 of the 44 cases were one to fourteen yearil of age and 6 occurred in adults. Tuberous sclerosis was present in 25 out of 33 eases where the head was mentioned. To a lesser degree there have been reported kidney tumors of various types, adenoma of the skin and certain other developmental anomalies. The true nature of the tumor as the beginning of muscle fibril formation was established by Wolbach.3, 4 He showed that the vacuoles were intracellular, that the ero~s striations were formed of fuchsinophil granules grouped in the sarcous elements, and that longitudinal striations were made up of alternating sarcous elements and basophilic fibrillary material. He also showed that similar cells may be found in the fetal myocardium. The resemblance of the cells to Purkinje 's cells and those of the conducting bundles of the heart was mentioned by Knox and Schorer.5 PonfickS called attention to the association of rhabdomyoma of the heart and tul•erous sclerosis and described a diffuse :fibrillary gliosis limited to the gray matter. Bonome7 traced the pathogenesis to fetal malnutrition resulting in :fibrous overgrowth of the heart and separation of embryonal cell nests. While the interest of these rare conditions lies partly in their clinical significance, their chief interest to the pathologist lies in the realm of pathogenesis. We now know the nature of congenital rhabdomyoma of the heart but until the deviations from the normal in fetal growth can be explained, the etiology and pathogenesis remain obscure. REFERENCES
(1) Seiffer'ti: Verhandl. d. deutsch. path. Gesellseh. 3: 64, 1901. (2) FOII'ber, S.: Am. J. Path. 7: 105, 1931. (3) Wolbach, S. B.: J. Med. Res. 16: 495, 1907. (4) Wolbadh, S. B.: Anat. Record 37: 225, 1928. (5) Krwx, J. H. M., ood Sohorer, E. H.: Arch. Pediat. 23: 561, 1926. (6) Ponfiolc: Verhandl. d. deutsch. path. Gesellsch. 4: 226, 1901. (7) BMome: Atti Instit. Veneto d. sc. 63, pt. 2.