# ‘Masked apical sparing’ in wild-type transthyretin cardiac amyloidosis complicated by aortic valve stenosis: a case report

**Authors:** Kei Matsumoto, Keisuke Matsuo, Takahide Arai, Shintaro Nakano

PMC · DOI: 10.1093/ehjcr/ytaf471 · European Heart Journal. Case Reports · 2025-09-20

## TL;DR

A patient with wild-type transthyretin cardiac amyloidosis and aortic stenosis improved with a combined treatment of TAVI and tafamidis, showing new echocardiographic features.

## Contribution

This case report demonstrates the potential benefit of combining TAVI and tafamidis in treating ATTRwt-CA complicated by AS.

## Key findings

- The patient showed favorable clinical outcomes after TAVI and tafamidis therapy.
- Apical sparing features emerged 10 months after TAVI, suggesting treatment impact on myocardial function.
- Serial GLS assessment provided insights beyond ejection fraction in monitoring disease progression.

## Abstract

Wild-type transthyretin cardiac amyloidosis (ATTRwt-CA) may accompany aortic stenosis (AS) in older adults. The coexistence of ATTRwt-CA and AS is associated with increased mortality and a higher incidence of heart failure hospitalization compared to AS alone. Apical sparing, manifested with a preserved apical longitudinal strain by echocardiography, is a cornerstone of diagnosing ATTRwt-CA; however, the role of this parameter in the diagnosis and follow-up of patients with AS complicated with ATTRwt-CA remain.

We report a case of ATTRwt-CA complicated by AS that was successfully treated with transcatheter aortic valve implantation (TAVI) and tafamidis, a tetramer stabilizer for transthyretin. The patient exhibited a favourable clinical course, highlighting the potential benefit of this combined therapeutic approach. Notably, characteristic features suggestive of apical sparing, which were completely absent before TAVI, emerged 10 months after the interventional afterloading.

This case indicates the potential benefit of combining tafamidis therapy with TAVI in patients with ATTRwt-CA and AS. Serial assessment of global longitudinal strain (GLS) provides valuable insights into myocardial function beyond the ejection fraction. The absence of the apical sparing sign prior to TAVI and the improvement of apical LS following the interventional afterloading suggest the risk of overlooking the characteristic GLS features of ATTRwt-CA when complicated with AS.

## Linked entities

- **Chemicals:** tafamidis (PubChem CID 11001318)
- **Diseases:** aortic stenosis (MONDO:0042981), heart failure (MONDO:0005252)

## Full-text entities

- **Genes:** TTR (transthyretin) [NCBI Gene 7276] {aka AMYLD1, ATTR, CTS, CTS1, HEL111, HsT2651}
- **Diseases:** AS (MESH:D001024), cardiac amyloidosis (MESH:D000686), heart failure (MESH:D006333)
- **Chemicals:** tafamidis (MESH:C547076)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

11 references — full list in the complete paper: https://tomesphere.com/paper/PMC12527256/full.md

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Source: https://tomesphere.com/paper/PMC12527256