Clinical Report: Familial Transthyretin Amyloid Cardiomyopathy Associated with the Uncommon TTR p.Ser43Asn Variant in a Chinese Family
Overview
This report details a Chinese family with the rare TTR c.128G > A (p.Ser43Asn) variant, highlighting the clinical presentation and diagnostic findings of the proband.
Background
Transthyretin amyloid cardiomyopathy (ATTR–CM) is a significant cause of heart failure, particularly in older adults. The condition is characterized by the deposition of misfolded transthyretin protein in the heart, leading to progressive myocardial impairment.
Data Highlights
No numerical data or trial data presented in the article.
Key Findings
The proband presented with exertional chest tightness and dyspnea, along with left ventricular hypertrophy on ECG.
Echocardiography revealed concentric left ventricular wall thickening and reduced systolic function.
Technetium-99 m pyrophosphate scintigraphy indicated grade 3 myocardial uptake.
Genetic testing confirmed a heterozygous c.128G > A (p.Ser43Asn) variant in the TTR gene.
Family investigation revealed additional affected relatives and carriers of the same variant.
Tafamidis treatment was initiated, with the proband remaining in New York Heart Association functional class II upon follow-up.
Clinical Implications
The identification of the TTR c.128G > A (p.Ser43Asn) variant in this family underscores the importance of genetic testing in patients with unexplained cardiomyopathy. Clinicians should consider hereditary ATTR–CM in differential diagnoses, especially in families with a history of similar symptoms.
Conclusion
This case study expands the clinical spectrum of the rare TTR c.128G > A (p.Ser43Asn) variant and contributes valuable data to the understanding of ATTR–CM in Asian populations.
