Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins. Variants in plakophilin-2 gene (PKP2) are the most common cause of the disease, associated with conventional ARVC phenotype. The study aims to evaluate the prevalence of PKP2 variants and examine genotype-phenotype correlation in Polish ARVC cohort.

Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families.

Congenital long QT syndrome (LQTS) is a primary cardiac channelopathy. Genetic testing has not only diagnostic but also prognostic and therapeutic implications. At present, 15 genes have been associated with the disease, with most mutations located in 3 major LQTS-susceptibility genes.

Mediastinal paragangliomas related to gene mutations.

Introduction: Paragangliomas (PGLs) related to hereditary syndromes are rare mediastinal tumors. Paragangliomas are caused by mutations in genes encoding subunits of succinate dehydrogenase enzyme (SDH).

Aim: To evaluate clinical, anatomical and functional characteristics of mediastinal paragangliomas related to gene mutations.

Associations of the eNOS G894T gene polymorphism with target organ damage in children with newly diagnosed primary hypertension.

Background: The endothelial nitric oxide synthase (eNOS) G894T gene polymorphism is associated with the risk of primary hypertension (PH) and vascular complications in adults with PH.

Methods: We explored the associations of the G894T polymorphism with 24-h ambulatory blood pressure, left ventricular mass (LVM), carotid intima media thickness (cIMT), urinary albumin excretion, oxidative stress and inflammatory parameters in 126 children with newly diagnosed PH and in 83 healthy children.

Results: Among the 126 children with PH 92 (73%) had ambulatory hypertension and 34 (27%) had severe ambulatory hypertension.

A novel life-threatening mutation in long QT2 syndrome.

Background And Aim: The aim of the report was to present a novel mutation in KCNH2 in a family with life-threatening long QT syndrome.

Methods: A genetic study using the method of next generation sequencing was performed in a 47-year-old woman after several episodes of syncope and torsade de pointes after sudden stress, with familial history of sudden death in first-degree female relatives. The study was performed also in her three asymptomatic children.

Is evaluation of complex polymorphism helpful in the assessment of prognosis after percutaneous coronary intervention. A prospective study.

Background: Coronary artery disease (CAD) is a complex disorder accounting for the majority of cardiovascular deaths and morbidity. It is believed that genetic factors explain part of the excessive risk of major adverse cardiac events (MACE) after percutaneous coronary intervention (PCI).

Aim: To evaluate the influence on long-term prognosis of some genetic polymorphisms affecting renin-angiotensin system, inflammatory response, beta-2 adrenergic receptor, nitric oxide and platelets activity in patients with stable CAD undergoing routine PCI.

Combined renin-angiotensin system gene polymorphisms and outcomes in coronary artery disease - a preliminary report.

Background: Common variants of the renin-angiotensin system (RAS) genes have been linked to a higher risk of coronary artery disease (CAD) and its complications.

Aim: To determine the prognostic significance of a combination of three common polymorphisms of RAS genes (angiotensin converting enzyme - ACE Ins/Del, angiotensin receptor type 1 - AGT1R A1166C and angiotensinogen - ATG M235T) in patients with CAD.

Methods: The study included 216 patients (mean age 58 ± 9 years, 74% male) prospectively followed for a mean 41 ± 17 months.

Influence of renin-angiotensin system gene polymorphisms on the risk of ST-segment-elevation myocardial infarction and association with coronary artery disease risk factors.

Background: Recent advances in molecular biology have made it possible to identify numerous polymorphisms of the renin-angiotensin system, which play an important role in the etiology of cardiovascular disease.

Objective: The aims of the study were (i) to assess the distribution of the angiotensin II type 1 receptor (AGTR1) gene 1166A/C polymorphism and two polymorphisms of the angiotensinogen (AGT) gene (Met235Thr and Thr174Met) in patients with ST-segment-elevation myocardial infarction (STEMI) who underwent coronary angiography, compared with healthy volunteers; (ii) to determine if there was any correlation between these polymorphisms and risk of STEMI; and (iii) to assess the association of the examined polymorphisms with such classic cardiovascular risk factors as hypertension, diabetes mellitus, obesity (based on a body mass index ≥25 kg/m2), smoking, dyslipidemia, and family history of cardiovascular disease.

Methods: A total of 100 patients (mean age 57 ± 10 years [range 31-76 years]; 21% women) with diagnosed STEMI and a control group consisting of 95 healthy volunteers (mean age 38 ± 11 years [range 17-60 years]; 20% women) were investigated for the AGTR1 1166A/C polymorphism and two variants of AGT (Met235Thr and Thr174Met).

Polymorphisms of the beta-1 and beta-2 adrenergic receptors in Polish patients with idiopathic dilated cardiomyopathy.

Background: Dilated cardiomyopathy (DCM) is a disorder characterised by dilation and impaired contractility of the left or both ventricles. This multifactorial disease has a strong genetic component with familial occurrence. A number of genes have been associated with idiopathic DCM (IDCM) including beta-1 (b1-AR) and beta-2 (b2-AR) adrenergic receptors.

Genetic variants in hypertensive patients with coronary artery disease and coexisting atheromatous renal artery stenosis.

Background: Atheromatous renal artery stenosis (ARAS) often coexists with coronary artery disease (CAD). This study evaluated the prevalence of three polymorphisms: angiotensin-converting enzyme (ACE) insertion/deletion (Ins/Del), endothelial nitric oxide synthase (eNOS) Glu298Asp, and methylenetetrahydrofolate reductase (MTHFR) C677T, in hypertensive patients referred for coronary and renal angiography.

Material/methods: The study included 223 hypertensive patients divided into three groups: 72 patients without significant CAD or evidence of ARAS, 111 patients with significant CAD but no ARAS, and 40 patients with coexisting significant CAD and evidence of ARAS.