Diagnostic Approach in Primary Healthcare for Cardiac Amyloidosis: Case Report

Objective: Cardiac amyloidosis occurs through the accumulation of amyloid in cardiac tissue, This is the most common form of restrictive cardiomyopathy in the Western world. In recent years, significant advances in the knowledge of cardiac amyloidosis have been consolidated, bringing a profound reformulation of its clinical meaning. The purpose of this case report is to demonstrate the importance of primary health care in the suspicion and diagnosis of patients with cardiac amyloidosis. Design and method: Interview with patient, bibliographical review and revision of medical records. Results: We describe here, the case of a 70-year-old caucasian man with no known personal or family history. He was consulted by his family doctor for unmedicated essential arterial hypertension associated with progressive worsening of fatigue during light exertion over 4 months of evolution. On physical examination, he was normotensive, tachycardic and had symmetrical bimalleolar edema. The electrocardiogram demonstrated atrial fibrillation with a heart rate of 100 - 120 bpm without other changes. Transthoracic echocardiogram showed dilation of the left ventricle, markedly thickened walls and hyperechogenic appearance, diffuse hypokinesia with compromised ejection fraction (±21%); binaural dilation and dilated right ventricle (RV) with compromised longitudinal function; without significant valvular changes. He started oral hypocoagulation and beta-blockers and was referred to a Cardiology consultation. Cardiac magnetic resonance demonstrated changes phenotypic characteristics and pattern of late gadolinium enhancement compatible with cardiac amyloidosis. Scintigraphy with technesium 99 diphosphonic-1,2-propane carboxylic acid (Tc99m-DPD) positive for ATTR amyloidosis. The diagnosis of heart failure with reduced EF due to ATTR amyloid cardiomyopathy was assumed. Exfoliating therapy with diuretic was performed, prognosis-modifying therapy and Tafamidis were initiated with excellent clinical response. Conclusions: Cardiac amyloidosis is a rare pathology, its diagnosis requires a high index of suspicion based on the clinic and the findings of complementary non-invasive tests, particularly transthoracic echocardiography and cardiac resonance. The family doctor plays a fundamental role not only in early diagnosis, but also in the first therapeutic approach, whenever possible, also referring all situations that require more specialized healthcare at hospital level.