The presence of cardiac rhabdomyoma was observed in eight of the 22 above-described patients (36%), one with a PV in TSC1 and the remaining seven with alterations in TSC2. In four of those cases, the rhabdomyoma presented complete regression (ET107, ET238, ET159, ET87), while the remaining four cases did not require medical or surgical management. The gene discussed is TSC1; the disease is cardiac rhabdomyoma.