PPM - Genetic Evaluation of Non-syndromic Cardiomyopathy-Checklist

Checklist

Pdf Summary

The document outlines a checklist for the genetic evaluation of non-syndromic cardiomyopathy during patient visits. Key points include documenting a 3-generation pedigree emphasizing cardiovascular history, recommending genetic testing for the most severely affected individual, suggesting multigene panel testing, counseling on potential testing results, and considering TTR and hemochromatosis in evaluation if a restrictive phenotype is present. Re-evaluation for additional genetic testing is advised if initial testing is negative or inconclusive. If a variant is identified, management implications should be discussed, and clinical screening of 1st degree family members is recommended if testing is non-diagnostic. Cascade genetic testing and serial clinical screening are advised for family members based on genetic testing results. The checklist aims to guide healthcare professionals in the comprehensive assessment and management of non-syndromic cardiomyopathy through genetic evaluation practices.

Keywords

genetic evaluation

non-syndromic cardiomyopathy

patient visits

3-generation pedigree

genetic testing

multigene panel testing

counseling

TTR

hemochromatosis

management implications