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. 2022 Apr 4;24(8):1307–1367. doi: 10.1093/europace/euac030
Recommendation Consensus statement instruction Ref.
Genetic testing is recommended for probands with DCM and family history of DCM, and the initial tier of genes tested should include genes with definitive or strong evidence of pathogenicity (currently BAG3, DES, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2, TTN, DSP). graphic file with name euac030ilf1.jpg 19, 340
For genetic testing in a proband with DCM, the initial tier of genes tested may include genes with moderate evidence of pathogenicity (ACTC1, ACTN2, JPH2, NEXN, TNNI3, TPM1, VCL). graphic file with name euac030ilf2.jpg 19
Genetic testing is recommended for patients with DCM and family history of premature unexpected sudden death or in a DCM patient with clinical features suggestive of a particular/rare genetic disease (such as atrioventricular block or sinus dysfunction or creatine phosphokinase elevation). graphic file with name euac030ilf1.jpg 340
Genetic testing can be useful for patients with apparently sporadic DCM, particularly in the presence of either severe systolic dysfunction (left ventricular ejection fraction < 35%), or a malignant arrhythmia phenotype (e.g. sustained ventricular tachycardia/fibrillation), or particularly at a younger age. graphic file with name euac030ilf2.jpg 340
Genetic testing may be considered for patients with DCM related to an acquired or environmental cause that may overlap with a genetic cause (such as peripartum or alcoholic cardiomyopathy). graphic file with name euac030ilf2.jpg 341, 342
Genetic testing is useful for patients with DCM to improve risk stratification and guide therapy. graphic file with name euac030ilf2.jpg 201, 343–348
Variant-specific genetic testing is recommended for family members and appropriate relatives following the identification of the disease-causative variant. graphic file with name euac030ilf1.jpg 16, 340, 349
Predictive genetic testing in related children is recommended in those aged >10–12 years. graphic file with name euac030ilf1.jpg 16, 350
Predictive genetic testing in related children aged below 10–12 years may be considered, especially where there is a family history of early-onset disease. graphic file with name euac030ilf2.jpg 16, 350