Ventricular Arrhythmia and Sudden Death without Structural Heart Disease General Panel
LQTS, SQTS, BS, CPVT, cardiomyopathies.
This panel is mainly aimed at the diagnosis of cases where it is not possible to establish a clearly defined phenotype, but where cardiac arrhythmias are the main manifestation. It is intended for subjects whose clinical or anatomopathologic study does not show structural alterations. It should be especially considered for those patients with personal or familiar history of sudden death, subjects with a history of syncope of unknown origin, or subjects with idiopathic ventricular fibrillation that fulfil the above-mentioned characteristics.
It includes priority genes with a clear association with these diseases, secondary genes where the evidence is lower, and candidate genes gathered from a systematic literature review.
CACNA1C, CASQ2, DSC2, DSG2, DSP, FLNC, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, PKP2, PLN, RYR2, SCN10A, SCN5A, TMEM43, TNNC1, TNNI3, TNNT2, ABCC9, ACADM, AKAP9, ANK2, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CAV3, CTNNA3, DES, GPD1L, HCN4, KCNE1L, KCND3, KCNE3, KCNJ5, KCNJ8, LAMP2, PRKAG2, RANGRF, SCN1B, SCN2B, SCN3B, SCN4B, SLMAP, SNTA1, TRDN, TRPM4, ANK3*