Article

Phenotypic presentation of family members of ATTRv probands and subsequent disease penetrance

2024-09-07

Abstract excerpt

<h4>BACKGROUND</h4> Hereditary transthyretin amyloid cardiomyopathy (ATTRv-CM) is being increasingly diagnosed due to enhanced awareness and availability of newer therapeutics. Multiple TTR variants have been described worldwide, but with uncertain disease penetrance. The characteristics and outcomes of “previously undiagnosed” pathogenic-likely pathogenic (P/LP) TTR variant (genotype or G+; cardiac phenotype or P...

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Literature Corpus work: fe50554a-1bf6-5878-b89a-1f06c768df23
DOI: 10.1101/2024.09.06.24313219

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