👤 Elisabetta Zachara

The role of genetic testing over the clinical and functional variables, including data from the cardiopulmonary exercise test (CPET), in the hypertrophic cardiomyopathy (HCM) risk stratification remains unclear. A retrospective genotype-phenotype correlation was performed to analyze possible differences between patients with and without likely pathogenic/pathogenic (LP/P) variants. A total of 371 HCM patients were screened at least for the main sarcomeric genes Show less

Mutations causing hypertrophic cardiomyopathy (HCM) have been described in nine different genes of the sarcomere. Three genes account for most known mutations: beta-myosin heavy chain (MYH7), cardiac myosin binding protein C (MYBPC3) and cardiac troponin T (TNNT2). Their prevalence in Italian HCM patients is unknown. Thus, we prospectively assessed a molecular screening strategy of these three genes in a consecutive population with HCM from two Italian centres. Comprehensive screening of MYBPC3, MYH7 and TNNT2 was performed in 88 unrelated HCM patients by denaturing high-performance liquid chromatography and automatic sequencing. We identified 32 mutations in 50 patients (57%); 16 were novel. The prevalence rates for MYBPC3, MYH7 and TNNT2 were 32%, 17% and 2%, respectively. MYBPC3 mutations were 18, including two frameshift, five splice-site and two nonsense. All were 'private' except insC1065 and R502Q, present in three and two patients, respectively. Moreover, E258K was found in 14% of patients, suggesting a founder effect. MYH7 mutations were 12, all missense; seven were novel. In TNNT2, only two mutations were found. In addition, five patients had a complex genotype [i.e. carried a double MYBPC3 mutation (n = 2), or were double heterozygous for mutations in MYBPC3 and MYH7 (n = 3)]. The first comprehensive evaluation of MYBPC3, MYH7 and TNNT2 in an Italian HCM population allowed a genetic diagnosis in 57% of the patients. These data support a combined analysis of the three major sarcomeric genes as a rational and cost-effective initial approach to the molecular screening of HCM. Show less

According to the current data over 12 million Polish citizens smoke tobacco, 40% of them are women. Maternal smoking in pregnancy significantly increases the rate of having a low-birthweight baby, the rate of perinatal mortality and several other adverse pregnancy outcomes. The aim of the study was to estimate the rate of smoking women during pregnancy and those who are exposed to secondhand smoke. 219 women hospitalized at Gynecology and Obstetrics Department of Wroclaw Medical University and Gynecology and Obstetrics Department in Opole have undergone the examination. The pregnant women have been interviewed and the results of questionnaire have been checked by the exhaled carbon monoxide (ExhCO) measurement. CO expresses the percentage of carboxyhemoglobin (HbCO) and is used for objective monitoring tobacco smoking. The results of the study suggest that regular exposure to secondhand smoke becomes a serious problem. 25.5% patients from Wrocław and 16.4% patients from Opole have declared passive smoking. The mean value of ExhCO in this group of women obtained the level of 3.3 ppm vs 1.95 ppm in the group of patients who have denied both active and passive exposure. Show less