PREMIO SERAFINO MANSUETO | Heart failure with preserved ejection fraction and transthyretin cardiac amyloidosis: an Internal Medicine–led heart failure clinic as a key hub for early diagnosis and multidisciplinary care

Introduction. Heart failure (HF) is a leading cause of hospitalization in Internal Medicine and HF with preserved ejection fraction (HFpEF) accounts for approximately 50% of cases. Transthyretin cardiac amyloidosis (ATTR-CM) is an underdiagnosed cause of HFpEF with adverse prognostic implications. Although multidisciplinary care for this systemic disease is recommended, the role of the internist is frequently underestimated.

Aim of the study. To evaluate the contribution of an Internal Medicine HF clinic to early diagnosis and coordination of multidisciplinary care for ATTR-CM.

Methods. Descriptive observational study of the first 6 months of activity of an Internal Medicine HF clinic. Suspicion of ATTR-CM was based on integration of red flags from medical history and physical examination with internist-performed echocardiography; a targeted amyloidosis workup was then initiated (monoclonal protein screen and bone-tracer cardiac scintigraphy).

Results. Twenty-five patients were evaluated (EF: 11 preserved, 9 mildly reduced, 5 reduced). Two ATTR-CM diagnoses were made (8%), both in HFpEF (2/11; 18%) with extracardiac red flags (bilateral carpal tunnel syndrome) and suggestive echocardiography (left ventricular wall thickening, diastolic dysfunction). Emblematic case: an 80-year-old woman discharged from the Emergency Department with an echocardiographic diagnosis of hypertensive heart disease.

Conclusions. ATTR-CM is not an exceptional diagnosis in HFpEF (prevalence up to 11% in selected populations) and an internist-led HF clinic can serve as a key hub for early detection and coordination of multidisciplinary care.