Inherited transthyretin cardiac amyloidosis presenting with diastolic heart failure and gastrointestinal symptoms: a case report and literature review

The prevalence of Inherited transthyretin cardiac amyloidosis (hATTR-CA) is rising with an aging population and more mutation carriers. Its symptoms often resemble other heart diseases, leading to delayed diagnosis and affecting prognosis. With the advancement of noninvasive diagnostic methods, early detection and targeted treatment of hATTR-CA are becoming possible. However, better clinical awareness and diagnostic capabilities are still needed. This article reports a typical case of a 70-year-old man diagnosed with hATTR-CA. The patient presented with cardiac symptoms, including chronic chest tightness, breathlessness, and hypotension, as well as extracardiac symptoms such as chronic diarrhea. He also experienced two episodes of syncope, with symptoms progressively worsening. The diagnosis of hATTR-CA was confirmed following a comprehensive diagnostic work-up, including ECG, ambulatory blood pressure monitoring, echocardiography, cardiac magnetic resonance (CMR), bone scintigraphy, and genetic testing, in accordance with current guidelines. The patient has been treated with tafamidis, a transthyretin (TTR) tetramer stabilizer, for 3 months. While there was no significant improvement in ECG and echocardiography, the patient reported a marked reduction in chest tightness, breathlessness, hypotension, and gastrointestinal symptoms compared to before treatment. This case, along with a literature review, explores the clinical features, diagnostic methods, and treatment strategies of the disease, highlighting the importance of early diagnosis for prognosis, particularly the role of imaging in diagnosis.