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A. Sarcomeric Protein Diseasenavigator

  1. Familial hypertrophic cardiomyopathies
  2. Variety of autosomal dominant mutations of sarcomp
    1. ß-cardiac myosin H chain gene (MYH7, chromosome 14q11.2-q13)
    2. Cardiac Troponin T (TNN2, chr 1q32)
    3. Cardiac Troponin I (TNNI3, chr 19p13.2-q13.2)
    4. alpha-tropomyosin (TPM1, chr 15q22)
    5. Myosin binding protein C (MYBPC3, chr 11p11.2) []
    6. Ventricular myosin light chain 1 (MYL3, chr 3p21.2-21.3)
    7. Ventricular myosin light chain 2 (MYL2, chr 12q23-24.3)
    8. Actin (chr 15q14)
    9. AMP-activated protein kinase gamma 2 (chr 7q3)
    10. Titin
    11. alpha-myosin heavy chain

B. Metabolic Diseasesnavigator

  1. Pompe Disease - glycogen storage disease II
  2. Forbes' Disease - glycogen storage disease III
  3. Fabry Disease
  4. Carnitine Deficiency
  5. Phosphorylase B kinase deficiency
  6. Debrnacher enzyme deficiency
  7. Hurler Syndrome
  8. Hurler-Scheie Diseaes
  9. Hunter Syndrome
  10. Mannosiosis
  11. Fucosidosis
  12. Total Lipodystrophy
  13. Mitochondrial Cytopathy
    1. MELAS
    2. MERRF
    3. LHON

C. Syndromic Hypertrophic Cardiomyopathynavigator

  1. Noonan Syndrome
  2. LEOPARD Syndrome
  3. Friedreich's Ataxia
  4. Beckwith-Wiedermann Syndrome
  5. Swyer's Syndrome (pure gonadal dysgenesis)

D. Miscellaneous Causesnavigator

  1. Obesity / Metabolic Syndrome
  2. Athletic training
  3. Amyloidosis
  4. Pheochromocytoma

References navigator

  1. Elliott P and McKenna WJ. 2004. Lancet. 363(9424):1881 abstract