Key result
Targeted TTR sequencing unmasks hereditary ATTR-CM in a patient lacking classic red flags.
Why the study?
Genetic testing is frequently omitted after cardiomyopathy diagnosis and often misapplied to individuals without a phenotype, creating uncertainty about appropriate testing indications.
Does targeted TTR sequencing in a patient with confirmed ATTR-CM but no classic red flags identify a hereditary variant?
Case Report (n=1)
Does targeted TTR sequencing in a patient with confirmed ATTR-CM but no classic red flags identify a hereditary variant?
Genetic testing via TTR sequencing is indicated in all patients with confirmed transthyretin amyloid cardiomyopathy regardless of age or the absence of classic red flags, as it distinguishes hereditary from wild-type disease and dictates familial cascade testing.
Supports TTR sequencing in ATTR-CM without red flags; leaves open broader testing indications pending validation.
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.
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Abou Bakr M. Salama (2026) conducted a case report in Transthyretin amyloid cardiomyopathy (ATTR-CM) (n=1). Genetic testing (TTR sequencing) was evaluated. Targeted TTR sequencing identified a pathogenic p.Val142Ile variant in a 68-year-old man with ATTR-CM who lacked classic red flags, establishing a diagnosis of hereditary disease.
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