Publications by authors named "Evmorfia Petropoulou"

Article Synopsis
  • Brugada syndrome (BrS) is an inherited heart condition caused by mutations in the sodium channel gene, and a specific family was found to have a rare G145R variant in a different gene, TBX5, associated with BrS.* -
  • Researchers created induced pluripotent stem cells (iPSCs) from family members with the G145R variant and studied the resulting heart cells (iPSC-CMs) to analyze their electrical properties and gene expression differences, comparing them with edited versions using CRISPR technology.* -
  • The study found that the G145R variant leads to reduced gene activity and abnormal heart cell behavior, specifically affecting sodium currents, while correcting the mutation restored normal function; disruptions in
View Article and Find Full Text PDF

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown. Here, we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM.

View Article and Find Full Text PDF

Familial dilated cardiomyopathy (DCM) is characterized by ventricular dilation and depressed myocardial performance. It is a genetically heterogeneous disorder associated with mutations in over 60 genes. We carried out whole exome sequencing in combination with cardiomyopathy-related gene-filtering on two affected family members to identify the possible causative mutation in a consanguineous Iranian family with DCM.

View Article and Find Full Text PDF

Objectives: Coagulopathy and mesenteric thrombosis are common in premature neonates with necrotizing enterocolitis (NEC). This pilot study aimed to investigate the hypothesis that there are changes in the gene expression related to the coagulation and anticoagulation systems in NEC.

Methods: Consecutive neonates (n = 11) with NEC (Bell stages 2-3) were recruited.

View Article and Find Full Text PDF

Aims: Brugada syndrome (BrS) remains genetically heterogeneous and is associated with slowed cardiac conduction. We aimed to identify genetic variation in BrS cases at loci associated with QRS duration.

Methods And Results: A multi-centre study sequenced seven candidate genes (SCN10A, HAND1, PLN, CASQ2, TKT, TBX3, and TBX5) in 156 Caucasian SCN5A mutation-negative BrS patients (80% male; mean age 48) with symptoms (64%) and/or a family history of sudden death (47%) or BrS (18%).

View Article and Find Full Text PDF

Ventricular arrhythmia induced by drugs (pro-arrythmia) is an uncommon event, whose occurrence is unpredictable but potentially fatal. The ability of a variety of medications to induce these arrhythmias is a significant problem facing the pharmaceutical industry. Genetic variants have been shown to play a role in adverse events and are also known to influence an individual's optimal drug dose.

View Article and Find Full Text PDF