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Elevated monolysocardiolipin/cardiolipin ratio

MedGen UID:
1052892
Concept ID:
CN377348
Finding
HPO: HP:6000517

Definition

The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated monolysocardiolipin/cardiolipin ratio

Conditions with this feature

3-Methylglutaconic aciduria type 2
MedGen UID:
107893
Concept ID:
C0574083
Disease or Syndrome
Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. Cardiomyopathy, which is almost always present before age five years, is typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction; hypertrophic cardiomyopathy can also occur. Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies.

Professional guidelines

PubMed

Zegallai HM, Hatch GM
Mol Cell Biochem 2021 Mar;476(3):1605-1629. Epub 2021 Jan 7 doi: 10.1007/s11010-020-04021-0. PMID: 33415565

Recent clinical studies

Diagnosis

Zegallai HM, Hatch GM
Mol Cell Biochem 2021 Mar;476(3):1605-1629. Epub 2021 Jan 7 doi: 10.1007/s11010-020-04021-0. PMID: 33415565
Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C
Am J Med Genet A 2020 Jan;182(1):64-70. Epub 2019 Nov 15 doi: 10.1002/ajmg.a.61383. PMID: 31729175

Clinical prediction guides

Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C
Am J Med Genet A 2020 Jan;182(1):64-70. Epub 2019 Nov 15 doi: 10.1002/ajmg.a.61383. PMID: 31729175

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