Cardiomyopathy, Infantile Histiocytoid (CMIH)

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Disease Ontology 12 DOID:0080198 OMIM 56 500000 MeSH 43 D009202 MESH via Orphanet 44 C535584 ICD10 via Orphanet 33 I42.0

UMLS via Orphanet 72 C1708371 Orphanet 58 ORPHA137675 MedGen 41 C1708371 SNOMED-CT via HPO 68 119419001 128613002 13713005 190882007 19242006 204108000 204118005 214264003 230745008 233901002 233917008 237630007 246545002 249497008 253549006 25569003 263731006 267044007 268158009 271327008 271782001 271823003 272039006 297159008 300359004 302866003 30288003 313307000 3415004 36440009 371039008 386661006 398979000 413921009 418107008 419045004 419166005 422400008 42343007 432788009 49436004 49578007 49727002 50177009 50582007 5102002 5370000 59118001 61142002 63567004 64634000 69878008 74390002 76976005 79519003 80515008 8186001 84114007 84757009 87979003 91175000 91273001 95735008 more UMLS 71 C1708371

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137675 Definition 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. Epidemiology The prevalence is unknown but less than 100 patients have been described in the literature so far. The majority of reported cases involved children under 2 years of age with a female:male ratio of 3:1. Clinical description Clinically, the disease may manifest as various types of incessant arrhythmia (including atrial and ventricular fibrillation, supraventricular and ventricular tachycardia and Wolff-Parkinson-White syndrome ; see this term) but sudden death due to cardiac arrest is a common presentation. Association with other cardiac defects (ventricular and atrial septal defects, hypoplastic left heart syndrome and endocardial fibroelastosis; see these terms) and with extracardiac anomalies (hypotonia , MIDAS syndrome, Peter's anomaly and congenital glaucoma ; see these terms) has also been reported. Etiology Histiocytoid cardiomyopathy was largely suspected to be caused by a developmental anomaly of the conduction system, however, a mtDNA mutation in the gene encoding mitochondrial cytochrome b ( MT-CYB ) has been identified. In familial cases (5% of reported patients), inheritance appears to be autosomal recessive but X-linked transmission has also been suggested in patients with the association of histiocytoid cardiomyopathy and MIDAS syndrome (an X-linked dominant condition caused by mutations in the HCCS gene localised to Xp22). Diagnostic methods The histological findings are pathognomonic for the disease with yellow-tan nodules in the myocardium and, in some cases, in the subendocardial and subepicardial areas. The nodules are composed of nests of foamy histiocyte-like cells with a granular cytoplasm containing lipid droplets and abundant atypical mitochondria . These abnormal myocytes are found mainly in the ventricles but involvement of the valves has also been reported. Differential diagnosis As sudden infant death is frequently the presenting manifestation, sudden infant death syndrome (SIDS) is often the initial diagnosis in these cases but can be ruled out by histological evaluation of the myocardial tissue . Management and treatment Management options for patients presenting with arrhythmias include surgical removal of the nodular lesions, and electrophysiological mapping and radiofrequency ablation of the arrhythmias. Antiarrhythmics are generally ineffective but one patient showed a good response to treatment with amiodarone. Prognosis The prognosis in general is poor and the disease is usually fatal. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cardiomyopathy, Infantile Histiocytoid, also known as histiocytoid cardiomyopathy, is related to myopathy and linear skin defects with multiple congenital anomalies 1. An important gene associated with Cardiomyopathy, Infantile Histiocytoid is NDUFB11 (NADH:Ubiquinone Oxidoreductase Subunit B11), and among its related pathways/superpathways are Metabolism and Parkinson disease. Affiliated tissues include heart, ovary and skin, and related phenotypes are ventricular tachycardia and hepatomegaly

Disease Ontology : ¹² An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has material basis in a mutation in the gene encoding mitochondrial cytochrome b.

OMIM : ⁵⁶ Histiocytoid cardiomyopathy, which was initially described by Voth (1962), goes by various names, including infantile xanthomatous cardiomyopathy (MacMahon, 1971), focal lipid cardiomyopathy (Bove and Schwartz, 1973), oncocytic cardiomyopathy (Silver et al., 1980), infantile cardiomyopathy with histiocytoid change (Ferrans et al., 1976), and foamy myocardial transformation of infancy (Yatani et al., 1988). The disorder is a rare but distinctive entity of infancy and childhood characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome (Andreu et al., 2000). (500000)

UniProtKB/Swiss-Prot : ⁷³ Cardiomyopathy, infantile histiocytoid: A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome.

Clinical features from OMIM:

500000

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance	GR00297-A	9.1	ACSS2 NDUFA1 NDUFB9 NDUFS2 NDUFS7 NDUFS8

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