Argueta‐Sosa, Erwin

Abstract Restrictive cardiomyopathy secondary to cardiac amyloidosis is an underdiagnosed, but treatable, cause of heart failure involving an extracellular deposition of misfolded protein. Hereby, we report a case of a female patient with history of nephrotic syndrome for 1 year who subsequently presented with symptoms of heart failure. The findings on cardiac imaging supported the suspicion of cardiac amyloidosis. Further laboratory workup for amyloidosis was pursued along with endomyocardial biopsy which confirmed amyloidosis‐AL type. Patient was started on chemotherapy. The case underscores the importance of a timely diagnosis with the help of symptomatology and imaging along with a multidisciplinary approach for patient care.

Restrictive cardiomyopathy secondary to cardiac amyloidosis is an underdiagnosed, but treatable, cause of heart failure involving an extracellular deposition of misfolded protein. Hereby, we report a case of female patient with heart failure and nephrotic syndrome. The case underscores the importance of a timely diagnosis.

Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is one of the most common types of cardiac amyloidosis. Amyloid cardiomyopathy more commonly affects men, elderly, and 3% to 4% of the African-American population. ATTR-CM suspicion and diagnosis is challenging; however, awareness of the disease is increasing, and best practices to identify it are being proposed. The approach to suspected cases of ATTR-CM relies on the presence of heart failure, red flag signs and symptoms, and age >65 or >70 for men and women respectively. Little is known about cases when it presents in early ages. Case: We report a 62-year-old African American male with past medical history of hyperlipidemia, prostate cancer, hypertension, bilateral carpal tunnel surgery that had debuted with a cardiac arrhythmia at age 55 and was diagnosed with heart failure several years later. Restrictive cardiomyopathy was suspected, and genetic screening was sent for ATTRm which confirmed a pathogenic trasnthyretin gene mutation. Endomyocardial biopsy was performed which confirmed cardiac amyloid deposition. Discussion: ATTR-CM is a rare disease with an increasing prevalence. Cases with out of proportion signs and symptoms of heart failure with preserved ejection fractions should raise the suspicion of ATTR-CM despite age.