Version June 2024
HCM: hypertrophic cardiomyopathy; ECG: electrocardiogram; FDR: first-degree relative; SCD: sudden cardiac death; VUS: variant of uncertain significance; MRI: magnetic resonance imaging; LVH: left ventricular hypertrophy; LV: left ventricular.
* Risk genes for HCM include MYBPC3, MYH7, TNNT2, TNNI3, MYL2, MYL3, ACTC1, and TPM1.
¶ Ensure that the genetic testing is performed properly, the patient identification is correct, and the interpretation of pathogenicity is accurate based on the most recent data analysis. Pathogenic and likely pathogenic variants are treated the same for purposes of surveillance and risk-reduction interventions. Gene tests may indicate a benign or likely benign variant or a VUS, though such results are often not reported. VUSs lack sufficient information from clinical and bench research to be classified as pathogenic or benign. Continue to seek updated interpretation of pathogenicity periodically.
Δ Consider cardiac MRI if the echocardiogram is of nondiagnostic quality or if the ECG is abnormal and the echocardiogram is normal or ambiguous.
◊ HCM is diagnosed by the presence of LVH (≥15 mm thickening anywhere in the LV wall) in the absence of any other identifiable cause (eg, hypertension or valve disease).
§ Specific activity restrictions to be based on shared decision-making between clinician and patient.
¥ Some experts advise initial genetic testing.
‡ Every 1 to 2 years for adolescents.
† If initial gene test did not include the variant of the affected FDR, repeat testing to include that variant.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
