[A case of hereditary transthyretin amyloidosis cardiomyopathy complicated with monoclonal gammopathy of undetermined significance].

Hereditary transthyretin amyloidosis cardiomyopathy (ATTRv-CM) is an infiltrative cardiomyopathy and an important cause of heart failure that is frequently missed or overlooked in clinical practice.

• The condition is described as a type of infiltrative cardiomyopathy (浸润性心肌病变)
• The paper emphasizes that ATTRv-CM is commonly underdiagnosed or overlooked in clinical settings
• The case illustrates the diagnostic challenges associated with this condition

A 69-year-old male patient presenting with heart failure was diagnosed with hereditary transthyretin amyloidosis cardiomyopathy complicated by monoclonal gammopathy of undetermined significance (MGUS).

• Patient was a 69-year-old male with heart failure
• Diagnosis required multiple investigations: immunofixation electrophoresis, 99Tcm-pyrophosphate (焦磷酸盐) myocardial scintigraphy, myocardial biopsy, and genetic testing
• The concurrent finding of MGUS (意义未明的单克隆丙种球蛋白病) complicated the diagnostic workup
• The combination of ATTRv-CM and MGUS represents a diagnostically challenging comorbidity

The diagnostic workup for ATTRv-CM in this case required a multimodal approach including nuclear imaging, tissue biopsy, and genetic testing.

• 99Tcm-pyrophosphate myocardial scintigraphy (99Tcm-焦磷酸盐心肌核素显像) was used as a non-invasive imaging modality
• Immunofixation electrophoresis (免疫固定电泳) was performed to evaluate for concurrent plasma cell dyscrasia
• Myocardial biopsy (心肌活检) was performed for tissue confirmation
• Genetic testing (基因检测) confirmed the hereditary nature of the transthyretin amyloidosis