Paper # 008

Versión en Español

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

Marcial Garcia-Rojo, Carlos Gamallo, Felipe Moreno

[Títle] [Introduction] [Materials & Methodos] [Results] [Pictures] [Discussion] [Bibliography]

[Clinical] [Gross] [Microscopy] [Techniques] [Other findings] [Interpretation]

LITERATURE REVIEW. Introduction

Definition

It's a distinct clinicopatholgic syndrome ^(3-5) that develops in small children, predominantly female^(4,6) and is characterized by sudden severe, recurrent, eventually fatal cardiac arrythmias or cardiac arrest ^(4,6), and by foci of severely altered cardiac muscle cells⁽⁴⁾ in the left ventricle and the interventricular septum⁽⁷⁾. These cells are enlarged and round-shaped, have a eosinophilic granular⁽⁴⁾ or foamy cytoplasm, and resemble histiocytes⁽³⁾. Electron microscopy indicates that this appearance results from mitochondrial hyperplasia together with a virtual absence of myocytic contractile elements^(3,4,6).

Synonyms (alphabetical order)

1. Arachnocytosis of the heart muscle⁽⁷⁾
2. Developmental Disorder of the Purkinje Cell System⁽¹⁶⁾
3. Foamy Myocardial Transformation of Infancy^(4,24)
4. Focal Myocardial Degeneration⁽²⁾
5. Focal Lipid Cardiomyopathy(^(4,14)
6. Idiopathic Infantile Cardiomyopathy⁽²⁰⁾
7. Infantile Cardiomyopathy with Histiocytoid Reaction^(3,20,21)
8. Infantile Xanthomatous Cardiomyopathy^(5,20)
9. Isolated Cardiac Lipidoses^(11,12)
10. Lipid Histiocytosis ⁽²⁰⁾
11. Histiocytoid Myocardiopathy^(4-6,13-19)
12. Mitochondrial Cardiomyopathy⁽²²⁾
13. Myocardial Hamartoma^(8-10)
14. Oncocytic Cardiomyopathy⁽¹²⁾
15. Purkinje Cell Tumor^(10,23)
16. Rhabdomyoma⁽¹⁾

Frecuency

In a study of cardiac tumors in a reference center, the myocardial hamartoma was the second tumor in prevalence, after the rhabdomyoma⁽⁹⁾.

In a series of 175 patients surgically treated for letal or refractary tachyarrhytmias, 19 patients presented critical ventricylar tachycardia. In 13 of these cases, the extopic focus was excised. The histological diagnosis was myocardial hamartoma in 11 of these patients⁽¹⁰⁾.

There is a clear female predominance⁽¹⁸⁾. We have collected 46 cases from the literature with enough clinical data. Thirty five (76%) were female. The age of the diagnosis of the disease varied between 1 month^(12,15) and 32 months⁽⁸⁾, mean 13,44, average 14,0 months, standard deviation 6,89, coef. variation 51,3168. The mean duration of symptoms was 43,67 days, standard deviation 88,10.

Patients described are not only caucasians, bat also black ^(8,20,23) or latin American⁽⁸⁾.