Showing papers by "Andrzej Rynkiewicz published in 2010"

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

Abstract: Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the genes coding for the low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9). In this study, a molecular analysis ofLDLR andAPOB was performed in a group of 378 unrelated ADH patients, to explore the mutation spectrum that causes hypercholesterolemia in Poland. All patients were clinically diagnosed with ADH according to a uniform protocol and internationally accepted WHO criteria. Mutational analysis included all exons, exon-intron boundaries and the promoter sequence of theLDLR, and a fragment of exon 26 ofAPOB. Additionally, the MLPA technique was applied to detect rearrangements withinLDLR. In total, 100 sequence variations were identified in 234 (62%) patients. WithinLDLR, 40 novel and 59 previously described sequence variations were detected. Of the 99LDLR sequence variations, 71 may be pathogenic mutations. The most frequentLDLR alteration was a point mutation p.G592E detected in 38 (10%) patients, followed by duplication of exons 4–8 found in 16 individuals (4.2%). Twenty-five cases (6.6%) demonstrated the p.R3527Q mutation ofAPOB. Our findings imply that major rearrangements of theLDLR gene as well as 2 point mutations (p.G592E inLDLR and p.R3527Q inAPOB) are frequent causes of ADH in Poland. However, the heterogeneity ofLDLR mutations detected in the studied group confirms the requirement for complex molecular studies of Polish ADH patients.

Sudden death in hypertrophic cardiomyopathy: old risk factors re-assessed in a new model of maximalized follow-up.

Abstract: Aims In hypertrophic cardiomyopathy (HCM), the following five risk factors have a major role in the primary prevention of sudden death (SD): family history of SD (FHSD), syncope, massive wall thickness (MWTh) >30 mm, non-sustained ventricular tachycardia (nsVT) in Holter monitoring of electrocardiography, and abnormal blood pressure response to exercise (aBPRE). In HCM, as a genetic cardiac disease, the risk for SD may also exist from birth. The aim of the study was to compare the survival curves constructed for each of the five risk factors in a traditional follow-up model (started at the first presentation of a patient at the institution) and in a novel follow-up model (started at the date of birth). In an additional analysis, we compared the survival rate in three subgroups (without FHSD, with one SD, and with two or more SDs in a family). Methods and results A total of 1306 consecutive HCM patients (705 males, 601 females, mean age of 47 years, and 193 patients were 0.0001), whereas in a traditional method, only four factors predicted SD (except aBPRE). In a novel model of follow-up, FHSD in a single episode starts to influence the prognosis with a delay to the fifth decade of life ( P = 0.0007). Multiple FHSD appears to be a very powerful risk factor ( P < 0.0001), predicting frequent SDs in childhood and adolescence. Conclusion The proposed concept of a lifelong calculated follow-up is a useful strategy in the risk stratification of SD. Multiple FHSD is a very ominous risk factor with strong impact, predicting frequent SD episodes in the early period of life.

Improvement of Ultrasonic Myocardial Properties after Aortic Valve Replacement for Pure Severe Aortic Stenosis: The Predictive Value of Ultrasonic Tissue Characterization for Left Ventricle Reverse Remodeling

Abstract: Background Aortic stenosis leads to left ventricular hypertrophy and accumulation of fibrillar collagens. The analysis of integrated backscatter (IBS) parameters provides information on ultrasonic myocardial properties. Methods The study population consisted of 58 patients with aortic stenosis. They were followed up for an average 18 ± 5 months after aortic valve replacement (AVR). Traditional transthoracic echocardiography and analysis of IBS reflectivity were performed before AVR and during the control visit after AVR. Results A significant reduction in left ventricular mass index, a significant increase in the mean cyclic variation of IBS, and a decrease in absolute end-diastolic IBS intensity were observed after AVR. Conclusions These data suggest improvements in ultrasonic myocardial properties after AVR. Preoperative analysis of IBS parameters might provide additional information for predicting left ventricular reverse remodeling in patients a mean of 1.5 years after AVR for aortic stenosis.

Epidemiology and prevention Polish Forum for Prevention Guidelines on Metabolic Syndrome

Abstract: 1 Coordinator of the PFP Guidelines on Metabolic Syndrome 2 Chairman of the PFP Task Force on Guidelines 3 Secretary of the PFP Task Force on Guidelines 4 Member of the PFP Task Force on Guidelines (Polish Society of Hypertension) 5 Expert of the PFP Task Force on Guidelines (Polish Cardiac Society) 6 Member of the PFP Task Force on Guidelines (Polish Pediatric Society) 7 Member of the PFP Task Force on Guidelines (Polish Society of Internal Medicine) 8 Member of the PFP Task Force on Guidelines (The College of Family Physicians in Poland) 9 Member of the PFP Task Force on Guidelines (Polish Diabetes Society) 10 Member of the PFP Task Force on Guidelines (Polish Cardiac Society) 11 Member of the PFP Task Force on Guidelines (Polish Society for Atherosclerosis Research) 12 Member of the PFP Task Force on Guidelines (Polish Society of Neurology) 13 Expert of the PFP on Metabolic Syndrome (Polish Diabetes Society) 14 PFP Coordinator 2009 (The College of Family Physicians in Poland)

Polish Forum for Prevention Guidelines on cardiovascular diseases prevention in children and adolescents

Abstract: Address for corespondence: prof. Piotr Podolec, MD, PhD, Department of Cardiac and Vascular Diseases, Institute of Cardiology, Collegium Medicum, Jagiellonian University, John Paul II Hospital, ul. Prądnicka 80, 31–202 Krakow, Poland, tel: +48 12 614 33 99, fax: +48 12 614 34 23, e-mail: ppodolec@interia.pl Polish Forum for Prevention Guidelines on cardiovascular diseases prevention in children and adolescents

Polish Forum for Prevention: a response to the European Society of Cardiology 'call for action' in Poland.

Abstract: In the recent issue of the European Journal of Cardiovascular Prevention and Rehabilitation Squarta [1] clearly summarized the main messages from the ‘call for action’ outcome document of the European Summit on cardiovascular disease (CVD) prevention. In this and other manuscripts [2,3] it was underscored that all European countries are expected to develop their own national strategies to combat heart diseases. Now it seems to be of great importance to exchange experiences in this field between countries and in the future to identify the most efficient patterns of ‘action’. Herein we would like to briefly present the current Polish strategy.