Peripheral microRNA panels to guide the diagnosis of familial cardiomyopathy.

Etiology-based diagnosis of dilated cardiomyopathy (DCM) is challenging. We evaluated whether peripheral microRNAs (miRNAs) could be used to characterize the DCM etiology. We investigated the miRNA plasma profiles of 254 subjects that comprised 5 groups: Healthy subjects (n = 70), idiopathic DCM patients (n = 55), ischemic DCM patients (n = 60) and 2 groups of patients with pathogenic variants responsible for familial DCM in the LMNA (LMNA, n = 37) and BAG3 (BAG3, n = 32) genes.

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.

Thanks to a better knowledge of the genetic causes of many diseases and an improvement in genetic testing techniques, genetics has gained an important role in the multidisciplinary approach to diagnosis and management of congenital heart disease and aortic pathology. With the introduction of strategies for precision medicine, it is expected that this will only increase further in the future. Because basic knowledge of the indications, the opportunities as well as the limitations of genetic testing is essential for correct application in clinical practice, this consensus document aims to give guidance to care-providers involved in the follow-up of adults with congenital heart defects and/or with hereditary aortic disease.

Large-scale assessment of aortic stenosis: facing the next cardiac epidemic?

Aims: Aortic stenosis (AS) is the most frequent valvular disease in developed countries. As society grows older, the prevalence of AS increases. However, the real burden, current aetiology, severity distribution, and echocardiographic patterns of AS are not fully clear.

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

Background: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death.

Patient-reported outcomes in type 2 diabetes mellitus: patients' and primary care physicians' perspectives in the Spanish health care system.

Objective: Understanding patients' and physicians' perceptions of type 2 diabetes mellitus (T2DM) management and treatment has important implications for diabetes care, allowing the identification of clinical practice issues that could be improved, leading to patients' better understanding of the illness and, consequently, healthier self-management behaviors. The objective of this study was to identify differences between physicians' and T2DM patients' perceptions related to health status, patient-reported outcomes assessments, and T2DM management and treatment, in routine clinical practice in Spain.

Methods: This was an observational, cross-sectional study including 1,012 T2DM patients and 974 physicians from 47 and 52 Spanish provinces, respectively.

Impact of asymptomatic acute cellular rejection on left ventricle myocardial function evaluated by means of two-dimensional speckle tracking echocardiography in heart transplant recipients.

Background: Our objective was to evaluate the impact of asymptomatic acute cellular rejection (ACR) in left ventricular myocardial strain in heart transplant (HT) recipients by means of two-dimensional speckle tracking echocardiography (2DSTE).

Methods: From September 1, 2009 to December 15, 2010 a conventional echocardiography and 2DSTE exam was performed on all consecutive HT recipients in their first year posttransplantation within 3 hours of the surveillance endomyocardial biopsies, as well as on 14 healthy controls. The association of strain echocardiographic variables with different grades of ACR was investigated.

[Merkel cell carcinoma. Study of five cases].

Merkel cell carcinoma (MCC) is a rare malignant skin tumor of neuroendocrine origin with a poor prognosis and rapid progression. It is usually an erythematous nodule on the face, and is associated with other skin neoplasms. Its histology shows a large mass of small cells containing oval nuclei with powdery chromatin in the dermis.