Transthyretin amyloid cardiomyopathy in severe aortic stenosis submitted to valve replacement: a multicenter study.

To evaluate the prevalence of TTR amyloid cardiomyopathy (ATTR-CM) in severe aortic stenosis (SAS) patients, and to determine the independent predictors of major adverse events (MAE). 91 SAS patients >65 years with an interventricular septum thickness ≥12.5 mm were referred for aortic valve replacement (AVR).

Challenges in Fabry disease: the combination of two individually amenable variants may be nonamenable to migalastat.

Fabry disease is a rare lysosomal storage disorder caused by mutations in the gene, resulting in reduced or absent α-Gal A activity. Migalastat is an oral chaperone therapy for Fabry patients with amenable variants. We previously reported a case of a 60-year-old male patient with a classic phenotype of Fabry disease, presenting with two variants: p.

Premature acute coronary syndrome: understanding the early onset.

Introduction: Acute coronary syndrome (ACS) is less frequent in young adults, but it has become a significant health problem, associated with the increasing prevalence of modifiable risk factors.

Objectives: To characterize patients admitted with premature ACS, comparing with those with nonpremature ACS.

Methods: We performed a retrospective study encompassing patients of the Portuguese Registry (ProACS), comparing two groups: one composed of men less than 55 and women less than 65 years old; and other with men ≥55 and women ≥65 years old at the ACS admission.

Giant Left Ventricular (Pseudo?) Aneurysm Complicating Anterior Myocardial Infarction.

The differential diagnosis of true aneurysms and pseudoaneurysms is challenging, and multimodality cardiac imaging is often necessary. We report a case in which the limitations of these techniques are exposed, showing that post-operative evaluation of tissue layers remains the gold standard in establishing this diagnosis. ().

Generation and cardiac differentiation of a human induced pluripotent stem cell line UALGi002-A from a female patient with Left-Ventricular Noncompaction Cardiomyopathy.

Left Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by abnormal number and prominence of trabeculations of the left ventricle of the heart. Although LVNC has been associated with mutations in several genes encoding for transcriptional regulators, ion channels, sarcomeric and mitochondrial proteins, approximately 60% of LVNC patients do not present these genetic alterations. Here, we describe an induced pluripotent stem cell (hiPSC) line (UALGi002-A) originated from a LVNC female patient (LVNC-hiPSC) who does not present any previously known mutations associated to LVNC.

Generation of a human induced pluripotent stem cell line (UALGi001-A) from a patient with Left-Ventricular Noncompaction Cardiomyopathy.

Left Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by excessive trabeculation of the left ventricle. To date, mutations in more than 40 genes have been associated with LVNC, however the exact mechanisms underlying the disease remain unknown. Here, we describe an induced pluripotent stem cell (iPSC) line (UALGi001-A) from a LVNC patient (LVNC-iPSC) that does not present mutations in the genes most commonly associated with the disease (van Waning et al.

Specific Therapy for Transthyretin Cardiac Amyloidosis: A Systematic Literature Review and Evidence-Based Recommendations.

Background The emergence of specific therapies for transthyretin cardiac amyloidosis (CA) warrants the need for a systematic review of the literature. Methods and Results A systematic review of the literature was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A systematic search was performed on MEDLINE, PubMed, and Embase databases on November 29, 2019.

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

Background: PRKAG2 gene variants cause a syndrome characterized by cardiomyopathy, conduction disease, and ventricular pre-excitation. Only a small number of cases have been reported to date, and the natural history of the disease is poorly understood.

Objectives: The aim of this study was to describe phenotype and natural history of PRKAG2 variants in a large multicenter European cohort.

p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease.

The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e.

Short- and medium-term prognosis of Takotsubo syndrome in a Portuguese population.

Introduction: Takotsubo syndrome (TTS) is characterized by transient left ventricular (LV) systolic dysfunction.

Aim: To characterize a Portuguese population with TTS and to determine their short- and medium-term prognosis.

Methods: We conducted a multicenter study in Portuguese hospitals that included all patients diagnosed with TTS, initially retrospectively and subsequently prospectively.

Surgical aortic valve replacement improves the quality of life of octogenarians with severe aortic stenosis.

Introduction: Aortic stenosis (AS) is the most common valvular disease in the elderly, affecting around 8.1% by the age of 85, with a negative impact on quality of life.

Objective: To determine the impact of surgical aortic valve replacement (SAVR) on quality of life in octogenarians.

CRUSADE: Is it still a good score to predict bleeding in acute coronary syndrome?

Introduction: Major bleeding is a serious complication of acute coronary syndrome (ACS) and is associated with a worse prognosis. The CRUSADE bleeding score is used to stratify the risk of major bleeding in ACS.

Objective: To assess the predictive ability of the CRUSADE score in a contemporary ACS population.

Changes in referral protocols for cardiac surgery: do financial considerations come at a cost?

Introduction And Objectives: The aim of this study was to determine whether changes to referral protocols for cardiac surgery have had an impact on waiting times, hospitalizations and mortality during the waiting period and during the first year of follow-up after surgery.

Methods: In this retrospective study of patients referred for cardiac surgery between January 1, 2008 and September 30, 2014, the study population was divided into two groups: those referred before (group A, January 1, 2008 to August 31, 2011) and after (group B, September 1, 2011 to September 30, 2014) the change in referral protocols. A telephone follow-up was conducted.

Holt-Oram syndrome: a case report.

Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported.