|
1
|
B‐NR
|
1. Family screening should be advised in first‐degree relatives of SUD subjects with a negative autopsy (or with no autopsy) when the decedent's age is <45 years (and in all patients with a clear phenotype regardless of age). |
80, 81, 143, 144, 334
|
|
1
|
B‐NR
|
2. Family screening should include genetic testing and clinical evaluation when genetic testing of a proband with SUD detects a pathogenic or likely pathogenic variant. |
70, 80, 81, 84, 143, 144, 189, 334
|
|
2a
|
B‐NR
|
3. It is reasonable to take a medical history and perform physical examination, standard and high precordial lead ECG, echocardiography, and exercise testing in first‐degree relatives of SUD subjects. |
80, 81, 143, 144, 334
|
|
2b
|
C‐LD
|
4. Depending on the results of other investigations (ECGs, echocardiography, and exercise testing), it may be reasonable to perform ambulatory cardiac rhythm monitoring and CMR in first‐degree relatives of SUD subjects. |
70, 81, 143, 189, 360
|
|
2a
|
B‐NR
|
5. It is reasonable to screen select postpubertal family members of SUD subjects with pharmacological testing including sodium channel blocker when baseline testing or proband findings increase suspicion of the target diagnosis. |
143, 189, 205, 275, 288, 334
|
|
2b
|
B‐NR
|
6. It may be reasonable to screen first‐degree relatives of SUD subjects with pharmacological testing including epinephrine challenge (if exercise testing is impractical) and sodium channel blockade. |
189, 205, 275, 288, 334
|