Early and aggressive presentation of wild-type transthyretin amyloid cardiomyopathy: A case report

BACKGROUND: Wild-type transthyretin amyloidosis (ATTRwt) is the most common form of transthyretin amyloid cardiomyopathy, occurring mostly over age of 60 years (mean age of 80 years). Mean survival without treatment is 3.6 years, making early detection imperative. We report an unusual case of a 58-year-old patient with ATTRwt cardiomyopathy requiring heart transplantation. CASE SUMMARY: A 58-year-old male presented with progressive fatigue, shortness of breath, weight gain, leg swelling, orthopnoea, and paroxysmal nocturnal dyspnoea for several months. Approximately ten months before this clinical presentation, the patient had first received a diagnosis of heart failure with reduced ejection fraction (EF) of 15% to 20%. The patient was started on appropriate guideline-directed medical therapy with only mild improvement in his EF. Upon further investigation, echocardiogram, technetium pyrophosphate scan (Tc PYP), and cardiac magnetic resonance imaging (cMRI) suggested a diagnosis of amyloidosis, and ATTRwt was subsequently confirmed with native heart tissue biopsy, congo red staining, liquid chromatography-tandem mass spectrometry, and genetic testing. The patient was successfully treated with heart transplantation and is doing well post-transplant. CONCLUSION: Wild-type ATTR amyloidosis should be kept on differentials in all patients (even less than 60 years old) with non-ischemic cardiomyopathy, especially in the setting of increased ventricular wall thickness and other classic echocardiogram, cMRI, and Tc PYP findings. Early diagnosis and management can be consequential in improving patient outcomes.