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GENATLAS PHENOTYPE
last update : 13-02-2012
Symbol RCM3
Location 1q32
Name cardiomyopathy, familial restrictive 3
Other name(s)
  • hypertrophic cardiomyopathy (HCM) with "restrictive phenotype" characterized by restrictive filling and minimal or no left ventricular hypertrophy, and characterized by a stiffened ventricular myocardium (PMID: 21502316))
  • associated to abnormal diastolic function that results from impaired ventricular filling, increased ventricular end-diastolic pressure, and dilated atria and a diminished capacity of the diseased heart to fully relax during diastole
  • prognosis is poor, especially in pediatric cases where patients often require heart transplantation and have average survival rates of (<50%) after diagnosis
    • Corresponding gene TNNT2
    Genetic determination not applicable
    Function/system disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function glutamic acid 96 deletion in exon 9 occurs at a position highly conserved across many species and causes loss of a negative charge in the coiled-coil region that is likely to affect TNNT2/actin interactions
    Remark(s)