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.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes.


Total: 4

                       


(per page)
PMID (PMCID)
27102574
 MALE Child
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R.
Clin Genet. 2017;91(3):441-447.
microphthalmia with linear skin defects and histiocytoid cardiomyopathy.
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].
7856638
 MIXED_SAMPLE Infant
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?
Bird LM, Krous HF, Eichenfield LF, Swalwell CI, Jones MC.
Am J Med Genet. 1994;53(2):141-8.
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?
7856638
 MIXED_SAMPLE Infant
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?
Bird LM, Krous HF, Eichenfield LF, Swalwell CI, Jones MC.
Am J Med Genet. 1994;53(2):141-8.
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?