{Reference Type}: Case Reports
{Title}: Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation.
{Author}: Tini G;Vianello PF;Gemelli C;Grandis M;Canepa M;
{Journal}: J Cardiovasc Transl Res
{Volume}: 12
{Issue}: 6
{Year}: 12 2019
{Factor}: 3.216
{DOI}: 10.1007/s12265-018-9859-0
{Abstract}: Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation.