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Patients with the A97S genotype of ATTR-CM may exhibit functional and structural improvements after tafamidis treatment. A recent case study showcased these potential benefits.

Transthyretin amyloidosis cardiomyopathy (ATTR-CM) is an under-recognized cause of heart failure. Mutations in the TTR gene are thought to destabilize and change the shape of the protein.

Although under-represented in major ATTR-CM studies, the A97S genotype is the most common in Taiwan. Due to under-representation in the current data, how well different genotypes respond to treatment and the effects of tafamidis on diseased myocardial substrate are not known.

A case of ATTR-CM with the A97S genotype was reported by researchers from National Taiwan University Hospital. A 66-year-old man with a history of hypertension, coronary artery disease, and paroxysmal atrial fibrillation was admitted due to progressive exertional dyspnea and orthopnea, which he had been experiencing for 30 days. His older sister had cardiac amyloidosis and had recently died of sudden cardiac death. Hereditary ATTR-CM was diagnosed after genetic testing revealed the A97S mutation.

After a year on tafamidis, the patientโ€™s Kansas City cardiomyopathy questionnaire (KCCQ-23) score, exercise capacity, follow-up echocardiography, and exertional dyspnea had all improved, while cardiorenal biomarker levels decreased. Cardiac magnetic resonance imaging showed improved global longitudinal strain and decreased extracellular volume. Technetium-99m pyrophosphate scintigraphy demonstrated decreased heart-to-contralateral ratio. During the one-year follow-up period, no further adjustments to heart failure medication were required.

This is the first time that tafamidis has been shown to improve A97S ATTR-CM in terms of clinical, structural, and functional capacity. It is yet to be discovered how new therapies may affect different ATTR-CM genotypes, and more research is needed to explore this topic.

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Source
Wu, Y. A., Tsai, C. H., Su, M. Y., Chao, C. C., Cheng, M. F., Shun, C. T., . . . Lin, Y. H. (2022). Reverse cardiac remodelling and dysfunction in A97S transthyretin cardiac amyloidosis after tafamidis treatment. ESC Heart Fail. doi:10.1002/ehf2.14165