Abstract A 90-year-old male patient presented with complaints and physical examination compatible with decompensated heart failure. Electrocardiogram showed atrial fibrillation and low voltage in limb leads, and echocardiogram identified biatrial dilatation, in addition to mild increases in ventricular wall thickness and diameter. Magnetic resonance imaging confirmed suspicion of cardiac amyloidosis. With negative serum and urinary protein electrophoresis and positive pyrophosphate cardiac scintigraphy, diagnosis of transthyretin cardiac amyloidosis was confirmed. Transthyretin gene mutations were not identified on sequencing, characterizing wild-type transthyretin […]

Introduction Cardiac amyloidosis is characterized by the presence of deposits of amyloid material between myocardial fibers, leading to impaired function. In 95% of cases, it can be secondary to excessive production of abnormal light chain immunoglobulins or changes in transthyretin (TTR), either due to mutation or wild type. TTR is a protein produced mainly by the liver, and it is responsible for transporting retinol and thyroid hormone. Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant genetic disease due to mutation […]

Introduction Anomalous pulmonary vein dreinage (APVD) is a rare disease, accounting for nearly 1 to 3% of congenital heart diseases. It may be total, when all PVs are involved, or partial, when only some PVs drain anomalously into one or more systemic veins or directly into the right atrium (RA)., This condition occurs alone or in association with an interatrial septal defect, more often sinus venosus interatrial communication (IAC) (which accounts for nearly 5% of all IAC cases). Patients with […]