These were found in genes associated with arrhythmogenic right ventricular cardiomyopathy (DSC2, DSG2, TMEM43, PKP2, DSP); Catecholaminergic polymorphic ventricular tachycardia (RYR2, CASQ2, TRDN); DCM (LMNA, FLNC, TTN, BAG3, RBM20); Vascular Ehlers-Danlos Syndrome (COL3A1); Long QT Syndrome 3/Brugada Syndrome (SCN5A); Familial Hypercholesterolemia (LDLR, APOB) and aortopathies (TGFBR1, SMAD3, MYH11). The gene discussed is SMAD3; the disease is familial hypercholesterolemia.