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). |
|
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). |
|
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). |
|
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. |
|
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). |
|
341,
342
|
Genetic testing is useful for patients with DCM to improve risk stratification
and guide therapy. |
|
201,
343–348
|
Variant-specific genetic testing is recommended for family members and
appropriate relatives following the identification of the disease-causative
variant. |
|
16,
340,
349
|
Predictive genetic testing in related children is recommended in those aged
>10–12 years. |
|
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. |
|
16,
350
|