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GENATLAS PHENOTYPE
last update : 06-01-2018
Symbol CMD1S
Location 14q11.2
Name cardiomyopathy, familial, hypertrophic and dilated,1S
Other name(s) cardiomyopathy dilated 1
Corresponding gene MYH7
Other symbol(s) CMFH1, CMH1
Main clinical features
  • particularly hypertrophic septum, with a potential severe course, evolving into dilated cardiomyopathy, poor survival
    • Genetic determination autosomal dominant
    Related entries including Left ventricular noncompaction 5 (LVNC5), noncompaction of the ventricular myocardium, resulting presumably from a congenital developmental error . associated with other heart defects, such as dislocation of the tricuspid valve (Ebstein's anomaly, EA) and atrial septal defect (ASD), and with a high degree of clinical variability
    Function/system disorder cardiovascular
    neuromuscular
    Type disease
    Gene product
    Name myosin, heavy polypeptide cardiac, beta chain (MYH7)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     with delayed relaxation of the muscle
    Remark(s)
  • genetic causes account for about half of presumed sporadic cases and nearly two thirds of familial cases of childhood-onset hypertrophy
  • E1356K mutation appears to thermodynamically destabilize the protein, rather than alter the charge profile know to be essential for muscle filament assembly (PMID: 19913502))
    • Genotype/Phenotype correlations
  • R870H mutation is associated with relatively good prognosis and longer life span when individual is heterozygous
  • MYH7 Val606Met mutation (exon 16) associated to hypertrophic cardiomyopathy and hypertrophic distal myopathy (PMID: 17383184))