Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.

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.

Blood pressure variability and its association with echocardiographic parameters in hypertensive diabetic patients.

Background: Blood pressure (BP) variability is associated with target organ damage in hypertension and diabetes. The 24 h ambulatory blood pressure monitoring (24 h-ABPM) has been proposed as an evaluation for BP variability using several indexes [standard deviation (SD) of mean BP, coefficient of variation (CV), BP variation over time (time-rate index)].

Methods: We evaluated the association between BP variability measured by 24 h-ABPM indexes and echocardiographic variables in a cross-sectional study in 305 diabetic-hypertensive patients.

White coat effect and masked uncontrolled hypertension in treated hypertensive-diabetic patients: Prevalence and target organ damage.

Background: The association between hypertensive phenotypes of controlled hypertension (CH), white-coat effect (WCE), masked uncontrolled hypertension (MUH) and sustained hypertension (SH) with target organ damage have not been clearly established in diabetic hypertensive treated patients. The present study aims to evaluate the prevalence of the four phenotypes considering the current cut-off points for office and 24 h-ambulatory blood pressure monitoring (ABPM) and the association with left ventricle hypertrophy (LVH), diastolic function and nephropathy.

Methods: Cross-sectional study with 304 patients on anti-hypertensive treatment aged 57.

Ventricular arrhythmias and left ventricular hypertrophy in hypertrophic cardiomyopathy.

Background: In hypertrophic cardiomyopathy (HCM), the degree of left ventricular hypertrophy (LVH) could influence the development of ventricular arrhythmias.

Objective: In HCM, analyze the association between the occurrence of ventricular arrhythmias determined by Holter electrocardiogram (ECG-Holter) and the degree of LVH determined by maximum wall thickness (MWT) in echocardiography and body mass index (BMI).

Methods: Fifty-four consecutive patients with HCM underwent 24-hour ECG-Holter and echocardiography for assessment of level of LVH through MWT and BMI.

Diagnostic evaluation of hypertrophic cardiomyopathy in its clinical and preclinical phases.

Hypertrophic cardiomyopathy is a familial, genetic disease caused by mutations in genes encoding sarcomeric proteins. It is characterized by various deGrees of left ventricular hypertrophy, usually diffuse, predominantly involving the interventricular septum. The asymptomatic forms with mild or no segmental hypertrophy makes it difficult to establish the diagnosis and screening for familial forms.

Left ventricular diastolic function in hemodialysis patients: role of preload increase maneuver on tissue Doppler imaging evaluation.

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.

[Assessment of left ventricular diastolic function in hypertensive patients under different hemodynamic conditions: comparative study between transmitral and tissue Doppler echocardiography].

Objective: To evaluate the behavior of LV diastolic displacement velocities of basal posterior septum near mitral ring segment obtained by tissue Doppler in relation to mitral flow 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).

Methods: Twenty five outpatients (15 men, 52+/-11 years), with arterial hypertension > 3 years, by the transmitral flow 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.