Prevalence of transthyretin cardiac amyloidosis in patients with heart failure with preserved ejection fraction: the PRACTICA study.

Introduction And Objectives: Transthyretin cardiac amyloidosis (ATTR-CA) is a frequent cause of heart failure with preserved ejection fraction (HFpEF). This study sought to determine the prevalence of ATTR-CA among HFpEF patients in a multicenter nationwide study.

Methods: Consecutive ambulatory or hospitalized patients aged ≥ 50 years with HFpEF and left ventricle hypertrophy ≥ 12mm were studied at 20 Spanish hospitals.

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.

Characterization of hereditary transthyretin cardiac amyloidosis in Spain.

Introduction And Objectives: Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort.

Methods: Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers.

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.

Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.

Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. ATTR amyloidosis can be sub-classified as wild-type ATTR (ATTR-wt) or as hereditary amyloidosis (ATTR-m); the prevalence of both types are likely underestimated. There are tools that can help us to study ATTR-m, as gnomAD database.

[Pleural empyema due to Gemella spp: report of 12 cases].

Background: Gemella genus bacteria can produce localized or generalized severe infections, but very rarely they have been described as causing pulmonary infections or pleural empyemas.

Aim: To characterize patients with empyema caused by Gemella genus bacteria.

Material And Methods: The database of a Microbiology laboratory of a Spanish hospital was reviewed, searching for Gemella positive cultures of pleural effusions in a period of five years.

[Nephritic colic management in an emergency room of a referral hospital].

Background: To evaluate the diagnostic and therapeutic management of patients with nephritic colic in a referral hospital, their monitoring and the incidence of alternative diagnoses.

Methods: This is a retrospective review of 182 randomly selected patients who presented a clinical diagnosis compatible with nephritic colic in a referral hospital. In these cases initial treatment, monitoring and alternative diagnoses have been evaluated.