Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiac disease characterized by progressive myocardial fibro-fatty replacement, arrhythmias and risk of sudden death. Its diagnosis is challenging and often it is achieved after disease onset or postmortem. In this study, we sought to identify circulating microRNAs (miRNAs) differentially expressed in ARVC patients compared to healthy controls.

[Parenteral nutrition with preconceived bag in a preterm newborn ELBW.].

Introduction: The administration of adequate nutritional intake, from the first days of life, is of fundamental importance in the management of the newborn extremely low birth weight (ELBW): parenteral nutrition (PN), as a support for early enteral feeding, plays a central role in the attempt to guarantee a quantitative and qualitative growth similar to that of the fetus in utero, allowing an adequate caloric, macro and micronutrient intake. The standardized PN, carried out through pre-established bags, allows in the case in which is not possible a personalized preparation, balanced nutritional contributions, reducing the risk of microbiological contamination and errors in preparation.

Clinical Case: We describe the case of an extremely preterm infant with various co-morbid conditions (severe respiratory syndrome, cerebral hemorrhage, anemia, sepsis and patency of the arterial duct) in which PN was used in a pre-established bag, as a support to enteral feeding in the first weeks of life, characterized by extreme clinical instability.

The giant titin: how to evaluate its role in cardiomyopathies.

Titin, the largest protein known, has attracted a lot of interest in the cardiovascular field in recent years, since the discovery that truncating variants in titin are commonly found in patients with dilated cardiomyopathy. This review will discuss the contribution of variants in titin to inherited cardiac conditions (cardiomyopathies) and how model systems, such as animals and cellular systems, can help to provide insights into underlying disease mechanisms. It will also give an outlook onto exciting technological developments, such as in the field of CRISPR, which may facilitate future research on titin variants and their contributions to cardiomyopathies.

A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy.

Background: Arrhythmogenic cardiomyopathy (ACM) is associated with arrhythmias and risk of sudden death. Mutations in genes encoding proteins of cardiac intercalated discs account for ∼60% of ACM cases, but the remaining 40% is still genetically elusive.

Objective: The purpose of this study was to identify the underlying genetic cause in probands with ACM.

Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy.

Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by progressive fibro-fatty myocardial replacement, ventricular arrhythmia, heart failure, and sudden death. Causative mutations can be identified in 60% of patients, and most of them are found in genes encoding mechanical junction proteins of the intercalated disk.

Methods: Whole-exome sequencing was performed on the proband of an ACM family.