Neuromuscular

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CARDIOMYOPATHIES: Genetic

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



Hypertrophic cardiomyopathy

General
Sarcomere proteins
Other cardiac proteins

General
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

Errors of Fatty acid oxidation

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
Trifunctional protein deficiencies: Subunits A & B
Tyrosinemia

Also see
  1° Disorders of Carnitine metabolism
  Cystinosis
  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
Return to Cardiac disease & Myopathy

References
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
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

1/25/2014