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
Mitochondrial
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
Cardiomyopathy, Dilated & Other: Specific Hereditary Types

Dominant
Recessive
X-linked
Arhythmogenic

Cardiomyopathy, Dilated, Dominant (CMD1)
Cardiomyopathy, Dilated, Recessive (CMD2)

Cardiomyopathy, Dilated, X-linked (CMD3)

External link: E-medicine


Other Cardiomyopathies

Brugada syndrome: Ventricular fibrillation Metabolic Developmental Other cardiomyopathies

Fatty Acid Oxidation: Errors 16

Fatty Acid Oxidation Disorders
Acyl-CoA dehydrogenase deficiencies
    Acyl-CoA dehydrogenase, short-chain (ACADS): SCAD
    Acyl-CoA dehydrogenase, medium-chain (ACADM): MCAD
    Acyl-CoA dehydrogenase, long-chain (ACADL): LCAD
    Acyl-CoA dehydrogenase, very long-chain (ACADVL): VLCAD
Acetyl-CoA acetyltransferase 1 (ACAT1)
2-Enoyl-CoA hydratase deficiency
  ECHS1
  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 (CACT): 3p21
2,4-Dienoyl-CoA reductase deficiency (DECR1): 8q21
Electron transfer flavoprotein (ETF) deficiency: 15q23
Ichthyosiform erythroderma (NCIE2): CGI58 gene; 3p21
TANGO2: 22q11
Trifunctional protein deficiencies: Subunits A & B
Tyrosinemia

Also see
  1° Disorders of Carnitine metabolism
  Cystinosis
  Fatty acid & Carnitine transport pathways
  Fatty acid oxidation pathways
  Laboratory: Acylcarnitine
  Lipids & Lipid disorders
  Mitochondria: Biochemical abnormalities
  Peroxisomal disorders
  Valine
Mitochondrial Fatty Acid Oxidation: 3 processes
  Carnitine uptake (Transport): Through plasma membrane
  Carnitine shuttle: Acyl-CoAs into mitochondria
  Fatty acid β-oxidation



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
FAOD: Laboratory

Fatty Acid Oxidation Disorders: Acylcarnitine
Disorder Gene Acyl-Carnitine: Elevations
CPT-IA CPT1A C0, C0/(C16 + C18)
CACT SLC25A20 C16, C16:1, C18, C18:1
CPT-II CPT2 C16, C16:1, C18, C18:1
CDSP SLC22A5 C0
VLCAD ACADVL C12:1, C14:2, C14:1, C14, C16:1, C16
LCHAD HADHA C16:1-OH, C16-OH, C18:1-OH, C18-OH
TFP HADHA
HADHB
C16:1-OH, C16-OH, C18:1-OH, C18-OH
MCAD ACADM C8, C10, C10:1
SCAD ACADS C4
MAD ETFA
ETFB
ETFDH
C4, C5, C6, C8, C10:1, C12, C14,
C14:1, C16, C16:1, C18, C18:1,
C16-OH, C16:1-OH, C18-OH, C18:1-OH

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

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, 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, Brain 2024 Jan 13
16. J Lipid Atheroscler 2021;10(1):1-7
17. Eur J Neurol 2020;27:2257-2266
18. Muscle Nerve 2021 Dec 4
19. J Med Genet 2023 Sep 21

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