Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.

Objective: Wild-type transthyretin (ATTRwt) amyloidosis is caused by the misfolding and deposition of the transthyretin protein (TTR) in the absence of mutations in the TTR gene. Studies regarding the variant form of ATTR amyloidosis (ATTRv) suggest that the presence of single-nucleotide polymorphisms (SNP) in genes other than the TTR, may influence the development of the disease. However, other genetic factors involved in the aetiopathogenesis of ATTRwt are currently unknown.

Coexistence of Positive Tc-DPD Scintigraphy and Monoclonal Gammopathy: A Frequent Challenge.

Background: Cardiac involvement is common in amyloidosis, and the vast majority of cases of amyloid cardiomyopathy are attributed to primary amyloidosis or transthyretin amyloidosis (ATTR). Although the coexistence of scintigraphy suggestive of ATTR with monoclonal gammopathy of undetermined significance is well documented, the correct diagnosis is still challenging in non-referral centers.

Methods: We performed a retrospective study reviewing all amyloid cardiomyopathy cases diagnosed at our center over the last 5 years, and described our experience and diagnostic approach.

Echocardiographic markers of cardiac amyloidosis in patients with heart failure and left ventricular hypertrophy.

Background: Cardiac amyloidosis (CA), following a non-invasive diagnosis, constitutes an increasingly prevalent heart failure (HF) etiology. This study aims to determine which echocardiography findings help to diagnose CA in patients with left ventricular hypertrophy (LVH) admitted for decompensated HF.

Methods: The present study is a retrospective observational study on a cohort of 85 LVH patients admitted for HF decompensation, in which 99mTc-DPD scanning was performed to rule out transthyretin CA.

Cardiac Transthyretin Amyloidosis: A Nuclear Medicine Leading Role. Situation in a Spanish Center and "State of the Art" in Nuclear Medicine.

Purpose: Amyloidosis is a heterogeneous group of diseases caused by abnormal extracellular deposition of insoluble proteins and can involve myocardium. One of the causes of myocardial involvement is TTR amyloidosis. Our objective has been to evaluate the situation of cardiac amyloidosis (CA) in our center and the role of nuclear medicine, and to review the state of the art of nuclear medicine in this entity.