Paper # 008 Versión en Español Versión en Español

Purkinje cell hamartoma (Histiocytoid cardiomyopathy). Study of a case in an 18 months infant.

Marcial Garcia-Rojo(1), Carlos Gamallo(2), Felipe Moreno(3)
(1) Pathology Department. Complejo Hospitalario de Ciudad Real. Spain.
(2) Pathology Department. Hospital La Paz. Madrid. Spain.
(3) Pediatric Cardiology Department. Hospital La Paz. Madrid. Spain

[Introduction] [Materials and Methods] [Results] [Pictures] [Discussion] [Bibliography]

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Purkinje cell hamartoma of the heart is a rare clinicopathological entity, that usually appears in female infants before the second year of live, presenting with arrhythmias and sudden death. Its histogenesis remains unknown.
He have studied a 18 months old female infant that presented in 1987 with a clinical picture of shock and tachycardia of 320 beats per minute, resistant to medical treatment. She was then treated surgically, with a resection of a whitish area in the left interventricular septum. This area extended from the apex of the left ventricle until the outflow tract.
The histological examination of the lesion showed large polygonal cells, that were mainly located in the subendocardium. These cells had large amount of cytoplasm, that was clear and with PAS positive inclusions, and with irregular nuclei. Ultrastructurally the lesion showed numerous mitochondria.
The immunochemical study was performed with vimentin, desmin, actin, myosin, alpha-actinin, tropomyosin, calmodulin, factor VIII, colagen IV, laminin, and S-100 antisera. With these markers, it was characteristic the granular and/or diffuse positivity of the PAS positive inclusions with actin, myosin, alpha-actinin, tropomyosin, and desmin. With this last antibody we could observe subsarcolemmal deposits. The positivity with calmodulin was homogeneous in the remainder of the cytoplasm and was absent in the inclusions. The basal membrane was strongly positive for collagen IV and laminin, making noticeable the existence of cytoplasmic foldings, with images of membrane pseudoinclusions in the cytoplasm.
These results suggest that this entity corresponds with an abnormality in the cytoskeleton proteins.

Marcial GarcíaDr. Marcial Garcia-Rojo M.D. Ph.D. (picture) is a staff pathologist at the Department of Pathology of Complejo Hospitalario de Ciudad Real. Dr. Gamallo M.D. Ph.D. is the Head of the Immunochemistry Section in the Pathology Department at Hospital La Paz. Dr. Felipe Moreno M.D. Ph.D. is Head of Section the Cardiology Department at Hospital La Paz.

Ciudad Real is the Capital of a Region known as "La Mancha", were all the story of the well known novel "Don Quijote de la Mancha" develops.

Key Words: Infant, Pediatrics, Heart, Purkinje cell hamartoma, Cardiomyopathy, Arrhythmia

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