Background:Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country.Objective:To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-phenotype associations.Methods:Direct DNA sequencing of all encoding regions of three sarcomeric genes was conducted in 43 consecutive individuals of ten unrelated families.Results:Mutations for CMH have been found in 25 (58%) patients of seven (70%) of the ten study families. Fourteen (56%) individuals were phenotype-positive. All mutations were missense, four (66%) in MYH7 and two (33%) in MYBPC3. We have not found mutations in the TNNT2 gene. Mutations in MYH7 were identified in 20 (47%) patients of six (60%) families. Two of them had not been previously described. Mutations in MYBPC3 were found in seven (16%) members of two (20%) families. Two (5%) patients showed double heterozygosis for both genes. The mutations affected different domains of encoded proteins and led to variable phenotypic expression. A family history of HCM was identified in all genotype-positive individuals.Conclusions:In this first genetic-molecular analysis carried out in the south of Brazil, we found mutations in the sarcomeric genes MYH7 and MYBPC3 in 58% of individuals. MYH7-related disease was identified in the majority of cases with mutation.

In HCM, occurrence of ventricular arrhythmias by Holter was associated with the degree of LVH assessed by echocardiography through MWT and BMI.

OBJECTIVETo evaluate the behavior of LV diastolic displacement velocities of basal posterior septum near mitral ring segment obtained by tissue Doppler in relation to mitral fl ow velocities of hypertensive subjects, submitted to preload increase by left inferior limbs elevation for 5 minutes, and during 1 minute of handgrip (conditions 1 and 2, respectively). METHODSTwenty fi ve outpatients (15 men, 52±11 years), with arterial hypertension > 3 years, by the transmitral fl ow Doppler variables: E, A and E/A, and of tissue Doppler: E', A' and E'/A', in basal situation and in conditions 1 and 2. For comparison of results in basal situation with conditions 1 and 2 a paired t test was applied. RESULTSE(cm/s) varied from 68,88 ± 11,94 to 75,82 ± 15,71* and E'(cm/s) varied from 8,22 ± 2,30 to 8,31 ± 2,24 in condition 1 (p<0.05). In addition, a comparison of variation percent (%) of Doppler transmitral indices with corresponding tissue Doppler indices variation % showed a signifi cant difference between E and E', with preload increase (p=0.01). CONCLUSIONPatients with left ventricular adaptation to systemic arterial hypertension showed less modifi cation of the index E´ than E, after preload increase maneuver, an evidence that may suggest its more ample utilization in the context of echocardiographic left ventricular diastolic function evaluation. KEY WORDSLeft ventricular diastolic function; arterial hypertension; tissue Doppler.

The use of ABPM beyond the traditional cardiovascular risk stratification tools has limitations, but is still useful in high-risk patients. Longitudinal studies could better evaluate the role of the use of ABPM in this scenario. Cut-off points for normality of office and ABPM influence the prevalences of WCH and MUH.

Objective: Tissue Doppler imaging (TDI) has recently been proposed as a relatively preload-independent method to evaluate left ventricular diastolic function. We sought to investigate the higher-accuracy of TDI to assess diastolic function in end-stage renal disease (ESRD) patients on hemodialysis (HD) associated with a preload increase maneuver. Methods: Thirty-two consecutiveESRD patients (16 female, ages 48.8 ± 17.5 years, 14 ≤45 and 18 >45 years old) were evaluated. Measurements of E, A velocities and the E/A ratio from transmitral inflow pulsed wave Doppler, and E’, A’ velocities and the E’/A’ ratio from TDI were obtained 1 h before and 1 h after HD at baseline and with a preload increase maneuver. Results: The E/A ratio changed significantly in all patients aged >45 before and after HD with the preload increase maneuver. The E’/A’ ratio increased in all subjects with the preload increase maneuver before HD but did not change with the maneuver after HD in the euvolemic state in all patients. Conclusion: In ESRD patients on routine HD, TDI evaluation associated with a preload increase maneuver proved to be a more accurate method to identify diastolic dysfunction when the evaluation is performed in euvolemic patients after HD.