Association of Ventricular Noncompaction and Histiocytoid Cardiomyopathy: Case Report and Review of the Literature

Abstract

We report an association between ventricular noncompaction and histiocytoid cardiomyopathy. Both entities are rare, and only 2 cases of their association have been reported previously in the medical literature. Ventricular noncompaction is believed to be caused by an arrest of the normal endomyocardial development, resulting in a thin and compacted epicardial layer and a thickened noncompacted endocardial layer. Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by aggregates of oncocytic cells involving predominantly the subendocardium. These cells are thought to be abnormal Purkinje cells. In our case, the histiocytoid cells showed strong cytoplasmic expression for the skeletal muscle transcription factor MyoD1, which could be attributed to cross reactivity with an undetermined cytoplasmic antigen.

Ultrastructural Findings in Noncompaction Prevail with Neuromuscular Disorders

“…Histological examination showed prominent endocardial fibrosis with prominent elastin deposition suggesting endocardial fibroelastosis. Additionally, there were histiocytoid cells, and multiple, small, dystrophic calcifications throughout the myocardium [13]. Electron microscopy revealed abundant mitochondria and scanty myofibrils (table 1).…”

“…In 2012, Planas et al [13] reported a 1-year-old female with ventricular arrhythmia and heart failure in whom LVHT was diagnosed at the age of 4 months. After she had succumbed to unexplained intracerebral hemorrhage 3 weeks after extracorporal membrane oxygenation and implantation of a Berlin device, the explanted heart underwent autopsy.…”

“…Altogether, 11 studies on ultrastructural investigations with a total of 13 LVHT patients were detected [3,4,5,6,7,8,9,10,11,12,13]. Ultrastructural investigations of LVHT were first carried out by Allenby et al [3].…”

“…The indication for heart transplantation was intractable heart failure with ventricular arrhythmia [4]. All the patients additionally presented with cardiac abnormalities other than LVHT, such as heart failure (n = 7) [3,4,7,8,10,13], ventricular arrhythmia (n = 4) [4,8,13], atrioventricular block III (n = 1) [5], atrial dilation (n = 1) [5], myocardial hypertrophy (n = 1) [5], or dilative cardiomyopathy (n = 4) [4,6,9,12]. The cause of cardiac abnormalities was identified in 6 cases.…”

“…Altogether 11 papers including 13 patients with LVHT reported ultrastructural investigations of LVHT. In 8 of these patients, ultrastructural investigations were performed at autopsy [3,4,5,8,9,10,13], in 3 after myocardial biopsy [6,7,12], in 1 after heart transplantation [4], and in 1 details were not provided [11]. The indication for myocardial biopsy was myocarditis (n = 2) [6,12] or Fabry's disease (n = 1) [6], or it was not mentioned (n = 1) [7].…”