Case Study: Classic Symptoms and Signs of Cardiac Amyloidosis

Case study of a 79-year-old African American female, who presented with an exacerbation of congestive heart failure, highlights the importance of diagnosis, treatment, and genetic testing.

Transthyretin cardiac amyloidosis (ATTR-CA) is a recognized cause of heart failure that typically affects the peripheral nervous system as well.

Diagnostic delays are common, and it often takes years for transthyretin amyloidosis (ATTR) to be identified by clinicians. It is increasingly recognized that to effectively manage the condition, early diagnosis and prompt initiation of treatment is critical.

James Qiao, a third-year medical student at Loyola University Medical Center, presented a serendipitous case study of a 79-year-old African American female who presented with an exacerbation of congestive heart failure. She had a history of nonischemic cardiomyopathy with borderline reduced left-ventricular ejection fraction (LVEF; 45%-50%), sick sinus syndrome, and atrial fibrillation status post permanent pacemaker (5 months prior to this admission), and was admitted for management of fluid overload related to congestive heart failure.

Imaging was undertaken. Echocardiographic imaging revealed that LVEF was borderline preserved at approximately 50% with reduced medial and lateral velocities; however, diastolic grade could not be determined due to atrial fibrillation. However, hypertrophy and specking appearance of the left ventricle suggested cardiac amyloidosis. Clinical investigation revealed that the patient had a history of bilateral carpal tunnel syndrome and spinal stenosis, each a potential signal of ATTR. A cardiac MRI was therefore conducted, and this revealed diffuse subendocardial late gadolinium enhancement and elevated extracellular volume at 54%. Subsequent pyrophosphate (PYP) SPECT scan revealed grade III cardiac uptake, which confirmed the diagnosis of ATTR.

With further investigation and interviewing of the patient, the investigators found that the patient had a medical history of peripheral nervous disease, and nervous system diseases in the form of carpal tunnel syndrome. The echocardiogram had shown evidence of diastolic dysfunction, and a high degree of clinical suspicion that played a key role in further evaluating the patient for ATTR-CA after originally presenting with heart failure symptoms more than 2 years previously. The PYP scan and cardiac MRI scan combined with negative serum/urine immunofixation, and negative free light chains confirmed the ATTR diagnosis. Further genetic testing of the patient and family members revealed that they carried the p.V142I variant of ATTR. Treatment with tafamidis and inotersen was initiated.

All classic symptoms and signs of ATTR-CA were revealed in this case study, which highlights the importance of keeping a detailed medical history and increased clinical vigilance. In terms of proactive management, this case underscores the importance of genetic testing and potential treatment of patients and their family members when appropriate.

Source: Qiao J, Kinno M. A serendipitous case of classic ATTR cardiac amyloidosis (Out of Sight, Out of Mind). Presented at: American College of Cardiology 70th Annual Scientific Session, May 15-17, 2021.

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