Histiocytoid cardiomyopathy

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

Lactic acidosis

An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.


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PMID (PMCID)
12900578
 MALE Infant
Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp.
Kutsche K, Werner W, Bartsch O, von der Wense A, Meinecke P, Gal A.
Cytogenet Genome Res. 2002;99(1-4):297-302.
The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y, inv(X)(p22.13 approximately 22.2p22.32 approximately 22.33)[49]/46, XY[271].