U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Histiocytoid cardiomyopathy

MedGen UID:
310844
Concept ID:
C1708371
Disease or Syndrome
Synonyms: Foamy myocardial transformation of infancy; Infantile histiocytoid cardiomyopathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
HPO: HP:0005152
Monarch Initiative: MONDO:0010771
OMIM®: 500000
Orphanet: ORPHA137675

Definition

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). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHistiocytoid cardiomyopathy
Follow this link to review classifications for Histiocytoid cardiomyopathy in Orphanet.

Conditions with this feature

Linear skin defects with multiple congenital anomalies 1
MedGen UID:
163210
Concept ID:
C0796070
Disease or Syndrome
Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.
Linear skin defects with multiple congenital anomalies 3
MedGen UID:
906997
Concept ID:
C4225421
Disease or Syndrome
Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.

Recent clinical studies

Etiology

Foster J, Parsons S
Forensic Sci Med Pathol 2024 Sep;20(3):1117-1120. Epub 2023 Oct 13 doi: 10.1007/s12024-023-00730-2. PMID: 37831311Free PMC Article
Finsterer J
Clin Cardiol 2008 May;31(5):225-7. doi: 10.1002/clc.20224. PMID: 18473377Free PMC Article
Gilbert-Barness E, Barness LA
Am J Med Genet A 2006 Oct 1;140(19):1993-2006. doi: 10.1002/ajmg.a.31440. PMID: 16969859
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665
Ruszkiewicz AR, Vernon-Roberts E
Am J Forensic Med Pathol 1995 Mar;16(1):74-80. doi: 10.1097/00000433-199503000-00017. PMID: 7771390

Diagnosis

Xie H, Chen X, Chen N, Zhou Q
Am J Forensic Med Pathol 2017 Mar;38(1):32-34. doi: 10.1097/PAF.0000000000000289. PMID: 28045696
Steffensen TS, Barness EG
Front Biosci (Elite Ed) 2009 Jun 1;1(2):519-27. doi: 10.2741/E48. PMID: 19482666
Finsterer J
Clin Cardiol 2008 May;31(5):225-7. doi: 10.1002/clc.20224. PMID: 18473377Free PMC Article
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665
Valdés-Dapena M, Gilbert-Barness E
Pediatr Pathol Mol Med 2002 Mar-Apr;21(2):195-211. doi: 10.1080/15227950252852096. PMID: 11942536

Prognosis

Magnetta DA, Reichhold A, Thrush PT, Monge M, Webster G, Joong A
ASAIO J 2022 Nov 1;68(11):e207-e210. Epub 2022 Apr 18 doi: 10.1097/MAT.0000000000001715. PMID: 35439193Free PMC Article
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665
Shehata BM, Patterson K, Thomas JE, Scala-Barnett D, Dasu S, Robinson HB
Pediatr Dev Pathol 1998 Jan-Feb;1(1):56-69. doi: 10.1007/s100249900007. PMID: 10463272
Koponen MA, Siegel RJ
Hum Pathol 1996 Apr;27(4):420-3. doi: 10.1016/s0046-8177(96)90117-3. PMID: 8617487
Prahlow JA, Teot LA
J Forensic Sci 1993 Nov;38(6):1427-35. PMID: 8263485

Clinical prediction guides

Shehata BM, Cundiff CA, Lee K, Sabharwal A, Lalwani MK, Davis AK, Agrawal V, Sivasubbu S, Iannucci GJ, Gibson G
Am J Med Genet A 2015 Sep;167A(9):2114-21. Epub 2015 Apr 29 doi: 10.1002/ajmg.a.37138. PMID: 25921236Free PMC Article
Shehata BM, Bouzyk M, Shulman SC, Tang W, Steelman CK, Davis GK, Moreno CS
Pediatr Dev Pathol 2011 Sep-Oct;14(5):370-7. Epub 2011 May 17 doi: 10.2350/10-05-0826-OA.1. PMID: 21585276Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...