Hereditary transthyretin amyloid cardiomyopathy caused by the rare TTR p.Ser43Asn variant in an Asian family: a case report

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Transthyretin amyloid cardiomyopathy (ATTR–CM) can be hereditary or wild-type, with over 150 TTR variants reported, including the rare c.128G > A (p.Ser43Asn).
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A 51-year-old Chinese man with the c.128G > A (p.Ser43Asn) variant presented with exertional chest tightness, dyspnea, and left ventricular hypertrophy on electrocardiography.
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Echocardiography revealed concentric left ventricular wall thickening, reduced systolic function, and relative apical sparing, indicating structural cardiac abnormalities.
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Technetium-99 m pyrophosphate scintigraphy showed grade 3 myocardial uptake, supporting a diagnosis of transthyretin cardiac amyloidosis without light-chain involvement.
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Family investigation revealed additional affected relatives and carriers of the same TTR variant, indicating a hereditary pattern of disease in this Chinese family.

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