Foamy myocardial transformation of infancy: an inherited disease.

Abstract

Voth' first recognised this rare condition in 1962 and defined it as arachnocytosis of the heart muscle. In 1965 Hudson2 referred to a child who had died in atrial tachycardia and whose heart showed an unusual form of lipid storage disease with no other organ affected.The cases reported have been predominantly in females and under 24 months of age. Various arrhythmias, mainly tachycardias, have been detected before death in several cases. Sudden death in an apparently healthy infant, however, has been documented in several others.At necropsy the heart is enlarged. Histological examination shows myocytes with a swollen, foamy, and granular cytoplasm. Ultrastructural studies have shown that this granularity is due to increased numbers of enlarged mitochondria.The aetiology is unknown, but a genetic basis has been proposed, based on the strong female preponderance.3 The following case reports add further evidence to a hypothesis of a genetic aetiology. Case reports CASES 1 AND 2Two children were born to caucasian nonconsanguineous parents (family A), were separated by an eight year interval. A third sibling, a 7 year old male, at the time of death of the second child, is alive and well at the time of writing.

Oxidative Phosphorylation Diseases

“…The LIC patient with cytochrome b deficiency occurred spontaneously within the pedigree, as did other cases with similar clinicopathologic findings (Amini et al, 1980;Witzleben and Pinto, 1978;Ross and Belton, 1968;Bruton et al, 1977;Haese et al, 1972;Kauffman et al, 1972;Ferrans et al, 1976;Suarez et al, 1987;Hug and Schubert, 1970). Two pedigrees contain affected siblings (Suarez et al, 1987).…”

“…Two pedigrees contain affected siblings (Suarez et al, 1987). The defect in cytochrome b which is encoded by the mtDNA and the spontaneous occurrence of the disorder suggested that a spontaneous mutation in the mtDNA during embryogenesis in a cell line which would ultimately form the cardiac myocytes could account for this disorder.…”

Festschrift for Dr. John M. Opitz: Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects

“…Histiocytoid cardiomyopathy is characterized by cardiomegaly, incessant ventricular tachycardia, and frequently sudden death in the first 2 years of life [Witzleben and Pinto, 1978; Suarez et al, 1987]. This lesion has also been termed isolated cardiac lipidosis, xanthomatous cardiomyopathy, focal myocardial degeneration, multifocal Purkinje cell tumors, arachnocytosis of the heart muscle, and foamy myocardial transformation of infancy.…”

Identification of Candidate Genes for Histiocytoid Cardiomyopathy (HC) Using Whole Genome Expression Analysis: Analyzing Material from the HC Registry

“…A familial tendency was first reported by Bruton, et al (1977) and Suarez, et al (1987) [5,6]. Because of these theories and the author’s personal experience of a family with more than one child affected by HC, a world-wide registry of HC was started in 1999.…”

“…A familial tendency was 1st reported by Bruton and colleagues in 1977 [3] and by Suarez and colleagues in 1987 [4]. Because of these theories and one of the author's personal experiences of a family with more than 1 child affected by HC, a worldwide registry of HC was started in 1999 after obtaining institutional review board approval.…”