Multimodal Imaging Evaluation of Myocardial Involvement in Rare Oculoleptomeningeal Hereditary Transthyretin Amyloidosis.

BACKGROUND

In hereditary (variant) transthyretin amyloidosis (vATTR), cardiomyopathy leads to worse outcomes. Of 140 identified TTR gene mutations, few are associated with oculoleptomeningeal amyloidosis. It remains unclear whether these mutations are linked to a cardiac phenotype.

CASE SUMMARY: A 59-year-old man from Bosnia and Herzegovina initially presented with transient vision loss and was ultimately diagnosed with rare p.Ile127Met vATTR. We describe a detailed investigation of myocardial involvement harnessing multimodal cardiovascular imaging.

DISCUSSION: No previous reports have specifically addressed the cardiac phenotype of oculoleptomeningeal amyloidosis. Our paper depicts a mild cardiac phenotype for the p.Ile127Met variant highlighting the need for awareness among cardiologists and emphasizing the necessity for close patient monitoring and expertise in evolving disease-modifying treatments.

TAKE-HOME MESSAGES: Early diagnosis and risk stratification in patients with vATTR are challenging. Cardiologists need an increased awareness because they may encounter patients with seemingly rare vATTR, such as the p.Ile127Met variant discussed here.