Case report regarding the evolution of electrocardiographic and echocardiographic features in cardiac amyloidosis

Abstract Background Cardiac amyloidosis is an important cause for heart failure with preserved ejection fraction. It is often under diagnosed due to the fact that clinicians do not always recognize the specific diagnostic findings associated with this disease, also leading to the wrong diagnosis. When left untreated further irreversible organ dysfunction occurs, with high morbidity and mortality rates. Case summary A 71-year-old patient presented with progressive exertional dyspnoea and angina pectoris at the outpatient clinic. Medical history noted a percutaneous coronary intervention of the right coronary artery due to stable angina pectoris. The electrocardiogram showed low voltage in the limb leads and pseudo-infarct pattern in the precordial leads. Echocardiographic findings included left and right ventricular hypertrophy, decreased left ventricular systolic function, restrictive diastolic function, and ‘relative’ apical sparing of the left ventricle. This led to the suspicion of cardiac amyloidosis, which was confirmed with a positive bone scintigraphy using 99mTechnecium-DPD and the absence of monoclonal proteins. Treatment with Tafamidis was initiated. Discussion Electrocardiographic findings suggestive of cardiac amyloidosis are low voltage in the limb leads and/or a pseudo-infarct pattern in the precordial leads. Important echocardiographic findings are left and right ventricular hypertrophy, restrictive diastolic function, ‘relative’ apical sparing of the left ventricle and impaired left atrial strain. The next step in confirming the diagnosis is 99mTechnecium PYP/DPD/HMDP bone scintigraphy and testing for monoclonal proteins. The diagnosis ATTR amyloidosis is confirmed by the combination of positive bone scintigraphy (Perugini Grade 2 or 3) and the absence of monoclonal proteins, without the necessity of performing an endomyocardial biopsy.