BackgroundBAG3 gene mutations have been recently implicated as a novel cause of dilated cardiomyopathy (DCM). Our aim was to evaluate the prevalence of BAG3 mutations in Polish patients with DCM and to search for genotype-phenotype correlations.MethodsWe studied 90 unrelated probands by direct sequencing of BAG3 exons and splice sites. Large deletions/insertions were screened for by quantitative real time polymerase chain reaction (qPCR).ResultsWe found 5 different mutations in 6 probands and a total of 21 mutations among their relatives: the known p.Glu455Lys mutation (2 families), 4 novel mutations: p.Gln353ArgfsX10 (c.1055delC), p.Gly379AlafsX45 (c.1135delG), p.Tyr451X (c.1353C>A) and a large deletion of 17,990 bp removing BAG3 exons 3–4. Analysis of mutation positive relatives of the probands from this study pooled with those previously reported showed higher DCM prevalence among those with missense vs. truncating mutations (OR = 8.33, P = 0.0058) as well as a difference in age at disease onset between the former and the latter in Kaplan-Meier survival analysis (P = 0.006). Clinical data from our study suggested that in BAG3 mutation carriers acute onset DCM with hemodynamic compromise may be triggered by infection.ConclusionsBAG3 point mutations and large deletions are relatively frequent cause of DCM. Delayed DCM onset associated with truncating vs. non-truncating mutations may be important for genetic counseling.

Our results indicate which specific calcium characteristics impact accuracy of coronary CTA in lumen assessment within calcified lesions. This may provide practical assistance in predicting coronary lumen underestimation or overestimation by coronary CTA, therefore mitigating risk of diagnostic errors in clinical practice.

The aim was to assess the control of negative emotions in treated patients with hypertension in comparison with normotensive individuals and to evaluate the association between suppression of negative emotions, control of blood pressure (BP) on ambulatory blood pressure monitoring (ABPM) and blood pressure variability (BPV). We studied 195 patients (women/men: 89/106); mean age 45.4 ± 15.9 years. All patients had ABPM and completed the Courtauld Emotional Control Scale (CECS). The total CECS score and scores for subscales for anger, depression and anxiety were analyzed together with mean BP values from ABPM, and their SD and coefficient of variation as BPV measures. The mean CECS score was 54 ± 12 in all subjects; highest in uncontrolled hypertension 56 ± 11, intermediate 53 ± 12 in controlled hypertension and lowest 48 ± 12 in normotensive subjects. The reference value for the Polish population is 50 ± 11. Significant differences of mean CECS scores among groups were observed (p = 0.0165) also in multivariate analysis. The difference between uncontrolled hypertension and normotension was significant (p = 0.0262). Few significant, weak correlations were observed between CECS score or its subscales and ABPM derivates in all subjects. Conclusion. Suppression of negative emotions may adversely affect BP control in treated hypertensive patients and it should be considered a cause of uncontrolled hypertension.

BackgroundIn humans mutations in the PLN gene, encoding phospholamban - a regulator of sarcoplasmic reticulum calcium ATPase (SERCA), cause cardiomyopathy with prevalence depending on the population. Our purpose was to identify PLN mutations in Polish cardiomyopathy patients.MethodsWe studied 161 unrelated subjects referred for genetic testing for cardiomyopathies: 135 with dilated cardiomyopathy, 22 with hypertrophic cardiomyopathy and 4 with other cardiomyopathies. In 23 subjects multiple genes were sequenced by next generation sequencing and in all subjects PLN exons were analyzed by Sanger sequencing. Control group included 200 healthy subjects matched with patients for ethnicity, sex and age. Large deletions/insertions were screened by real time polymerase chain reaction.ResultsWe detected three different heterozygous mutations in the PLN gene: a novel null c.9_10insA:(p.Val4Serfs*15) variant and two missense variants: c.25C > T:(p.Arg9Cys) and c.26G > T:(p.Arg9Leu). The (p.Val4Serfs*15) variant occurred in the patient with Wolff-Parkinson-White syndrome in whom the diagnosis of cardiomyopathy was not confirmed and his mother who had concentric left ventricular remodeling but normal left ventricular mass and function. We did not detect large deletions/insertions in PLN in cohort studied.ConclusionsIn Poland, similar to most populations, PLN mutations rarely cause cardiomyopathy. The 9thPLN residue is apparently a mutation hot spot whereas a single dose of c.9_10insA, and likely other null PLN mutations, cause the disease only with low penetrance or are not pathogenic.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-015-0167-0) contains supplementary material, which is available to authorized users.