The Red Flags Were Missing, the Indication Was Not: Genetic Testing in Heart Failure and Cardiomyopathy.

Abstract excerpt

Genetic testing is the step most often omitted once a cardiomyopathy has been characterized and the step most often misapplied when it is extended to people who have no phenotype. I describe a 68-year-old African American man with transthyretin amyloid cardiomyopathy who had none of the classic red flags, and use his case to define who should be tested, what must be excluded first, and what the result changes.

Topics

• Humans
• Heart Failure
• Genetic Testing
• Male
• Genetic Predisposition to Disease
• Phenotype
• Cardiomyopathies