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GENATLAS PHENOTYPE
last update : 13-02-2009
Symbol HHSS
Location 1q22
Name heart hand syndrome, Slovenian type
Corresponding gene LMNA
Main clinical features
  • adult onset progressive conduction system disease, atrial and ventricular tachyarrhythmias, sudden death, dilated cardiomyopathy, and brachydactyly with predominant foot involvement (Renou 2008)
  • fibroblasts of affected family members identified for the first time a truncated lamin A/C protein together with nuclear envelope abnormalities (Renou 2008)
    • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    osteo-articular
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   truncated protein  
    Remark(s)