Mutations of TGFbeta 3 has been found in a small percentage of ARVC/D patients (4%). Beffagna et al.  found a proband in one family with mutations of this gene. Clinical analysis of 12 TGFbeta 3 mutation carriers lead to a diagnosis of ARVC/D in nine subjects (75%). The 12-lead ECG, SAECG, and 2D-echo findings were similar to those reported in DSP and DSG2 carriers. TGFbeta 3 is a member of the transforming growth factor family, a large group of regulatory cytokines that has a pivotal role in tissue development and homeostasis . TGFbeta 3 induces a fibrotic response in various tissues in vivo  by promoting expression of extracellular matrix genes and by suppressing the activity of genes such as matrix metalloproteinas-es, which are involved in extracellular matrix degradation [26,27]. On the basis of this information, we hypothesized that mutations in the TGFbeta 3 gene, which increases expression in vitro, could promote myocardial fibrosis in vivo.
Was this article helpful?