Introduction: Between myocardial diseases, restricti-ve cardiomyopathy (RCM) occupies a special role both through the diagnostic and therapeutic difficulties it determines. Among the many causes of RCM, cardi-ac amyloidosis has gained more and more attention in recent years. Although a rare pathology, recent advan-ces in early diagnosis and new therapies have brought it back into the medical world’s focus. The main forms are AL amyloidosis and ATTR amyloidosis, respectively, responsible for over 95% of cases of cardiac amy-loidosis. Of these, the ATTR form enjoys new promi-sing therapies in stopping and even improving it.
Methods: We present the case of a 52-year-old male ad-mitted to our service for peripheral edema and decrea-sed tolerance during exertion. The patient has a known history of high blood pressure, with permanent atrial flutter, associating major cardiovascular risk factors: diabetes and chronic kidney disease. At presentation, the patient was conscious, hemodynamically stable. Electrocardiographically, the presence of a 3/1 atrial flutter and slow R-wave progression in V1-V4 derivati-ves were observed. At echocardiography an important concentric hypertrophy with biatrial dilatation and in-creased interventricular septal echogenicity (IVS) was observed in the context of a relatively normal left ven-tricle systolic function.
Results: Considering the echocardiographic and ECG aspect, in the context of symptoms and preserved systo-lic function, the suspicion of a restrictive cardiomyo-pathy was raised. Moreover, the increased echogenicity of IVS, as well as the slow progression of the R wave in the precordial leads, but also the associated co-morbi-dities – especially renal impairment – have posed the problem of a differential diagnosis, the main hypothe-sis being cardiac amyloidosis and a possible Fabry di-sease. Genetic determinations were negative for Fabry disease, the patient being directed for genetic testing for cardiac amyloidosis and myocardial scintigraphy with Tc99.
Conclusions: ATTR Amyloidosis has benefited in re-cent years from new discoveries with recent prospects of improvement. The diagnostic gold standard is the endomyocardial biopsy. However, it has been obser-ved that nuclear imaging can play a determining role in non-invasive screening of these patients. Given the latest findings in this field, we can conclude that cardiac amyloidosis will capture the attention of the medical world in the years to come, by increasing the sensitivity of diagnostic and constantly improving the therapeutic possibilities.