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Cardiac disease + Myopathy
  Right ventricular dilated (ARVD)
  Left Ventricular Hypertrabeculation/Noncompaction
  Ventricular fibrillation (Brugada)
  Atrial septal defect
Fatty acid metabolism disorders
Long Q-T syndromes

Hypertrophic cardiomyopathy

Sarcomere proteins
Other cardiac proteins

Hypertrophic cardiomyopathy: Types Other hypertrophic cardiomyopathies
Dilated cardiomyopathy

General Features Specific Hereditary Types External link: E-medicine

Other Cardiomyopathies

Brugada syndrome: Ventricular fibrillation Metabolic Developmental Other cardiomyopathies

Fatty acid oxidation: Errors

Fatty Acid Oxidation Disorders
Acyl-CoA dehydrogenase deficiencies
    Acyl-CoA dehydrogenase, short-chain (SCAD)
    Acyl-CoA dehydrogenase, medium-chain (MCAD)
    Acyl-CoA dehydrogenase, long-chain (LCAD)
    Acyl-CoA dehydrogenase, very long-chain (VLCAD)
2-Enoyl-CoA hydratase deficiency: See Trifunctional protein
L-3-Hydroxyacyl-CoA dehydrogenase deficiencies
    L-3-Hydroxyacyl-CoA dehydrogenase, short chain (SCHAD)
    Trifunctional protein: Long-chain FA (LCHAD)
        Alpha subunit (HADHA)
        Beta subunit (HADHB)
3-Ketoacyl-CoA thiolase deficiency
    3-Ketoacyl-CoA thiolase, Medium chain (MCKAT)
    Trifunctional protein
α-Methylacyl-CoA racemase (AMACR) deficiency
Carnitine-acylcarnitine translocase deficiency: 3p21
2,4-Dienoyl-CoA reductase deficiency: 8q21
Electron transfer flavoprotein (ETF) deficiency: 15q23
Ichthyosiform erythroderma (NCIE2): CGI58 gene; 3p21
TANGO2: 22q11
Trifunctional protein deficiencies: Subunits A & B

Also see
  1° Disorders of Carnitine metabolism
  Fatty acid & Carnitine transport pathways
  Fatty acid oxidation pathways
  Lipid disorders
  Mitochondria: Biochemical abnormalities
  Peroxisomal disorders
Carnitine Palmitoyltransferase 2 Carnitine Acylcarnitine Acyl-CoA dehydrogenase, very long-chain Trifunctional protein, Subunit A Trifunctional protein, Subunit B Acyl-CoA dehydrogenase, short-chain Acyl-CoA dehydrogenase, medium-chain Acyl-CoA dehydrogenase, long-chain Electron transfer flavoprotein L-3-Hydroxyacyl-CoA dehydrogenase, short chain 3-Ketoacyl-CoA thiolase, Medium chain

Disorders of Fatty Acid metabolism: General features Fatty acid metabolism: Specific Disorders

Fatty Acid Synthesis: Disorder

Childhood-Onset Dystonia & Optic Atrophy (DYTOABG) 14
  Mitochondrial Trans-2-Enoyl-CoA Reductase (MECR) ; Chromosome 1p35.3; Recessive
Return to Cardiac disease & Myopathy

1. Circulation. 1999;99:518-528
2. Circulation. 1999;99:674-681
3. Pediatric Research 2001;49:227-231
4. Circulation 2002;105:431-437
5. Am J Hum Genet 2006; July
6. Ann Neurol 2006; Online Oct 16
7. Nature Genetics 2006; Online December, J Neurol 2011 May 5, Eur Neurol 2020 Jun 19:1-6
8. Am J Human Genet 2008; Online Feb
9. Pediatr Cardiol 2009 Jan 29
10. Mitochondrion 2008;8:229-236
11. Eur Neurol 2000;44:37-41
12. J Med Genet 2010 May 5
13. Circ Res 2013;112:e51-54
14. Am J Human Genet 2016; Online Nov
15. Nat Commun 2019 ;10:4457