PubMed Health⌕ Search

Biomedical subjects

Beatriz Bouzas

Publications and source records attributed to Beatriz Bouzas.

10 recordsLinked to original sources
PubMed2006

Interpretation of electrocardiographic abnormalities in hypertrophic cardiomyopathy with cardiac magnetic resonance.

AIMS: To clarify the mechanisms of electrocardiographic abnormalities in hypertrophic cardiomyopathy, 102 patients were examined with cardiac magnetic resonance. Distribution and magnitude of hypertrophy and late-enhancement were correlated with electrocardiographic abnormalities. METHODS AND RESULTS: Abnormal Q waves were associated with greater upper anterior septal thickness (22+/-7 mm vs. 18+/-5 mm, P=0.001) and increased ratios of upper anterior septum to mean inferolateral (P=0.01), anterolateral (P=0.002), apical (P=0.001), and right ventricular (P=0.001) wall thickness. There was no relation between abnormal Q waves and late-enhancement, except for Q waves >/=40 ms (P=0.02). Conduction disturbances and absent septal Q waves were associated with late-enhancement (89 vs. 45%, P=0.01 and 75 vs. 39%, P=0.002, respectively). The depth of negative T waves was related to an increased ratio of the mean thickness between apical and basal level (P=0.01), and to the presence of apical late-enhancement (P=0.03). CONCLUSION: Abnormal Q waves reflect the interrelation between upper anterior septal thickness and other regions of the left and right ventricles, and wider Q waves are associated with late-enhancement. Conduction disturbances and absent septal Q waves are associated with late-enhancement. The depth of negative T waves is related to craniocaudal asymmetry and apical late-enhancement.

Adolescent↗
PubMed2006

Risk stratification by treadmill exercise echocardiography.

BACKGROUND: Although exercise echocardiography (EE) has value for the diagnosis of coronary artery disease (CAD), it's not clear whether it may be useful for risk assessment in all categories of patients. To determine whether: 1) there is an incremental value of EE over clinical, exercise and resting echocardiographic variables for the prediction of events according to the pre-test probability of CAD; and 2) the number, location of the diseased territories, and nature of the disease affect the risk stratification, we studied 2436 patients referred for EE that were followed for 2.1 +/- 1.5 years. METHODS: Based on a pre-test score, previous myocardial infarction (MI) or revascularizations, 1242 patients were considered as having high, 1038 moderate, and 156 low pre-test probability. RESULTS: There were 89 hard events (myocardial infarction or cardiovascular death) in the 1203 patients with abnormal EE vs. 31 events in the 1233 with normal EE (p < 0.0001). Gender, Mets, heart rate x blood pressure, resting wall motion score index and number of involved territories at exercise were independently associated to hard events (final Chi-square = 170, incremental p value of exercise echo <0.0001). The incremental value of exercise echo over other variables was found in patients with the different pre-test probabilities. CONCLUSIONS: Exercise echocardiography has incremental value over clinical, exercise and resting echocardiographic variables in patients with different pre-test probabilities of CAD.

Coronary Artery Disease↗
PubMed2006

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].

INTRODUCTION AND OBJECTIVES: To determine the frequency of mutations in the beta-myosin heavy-chain gene (MYH7) in a cohort of patients with hypertrophic cardiomyopathy (HCM) and their families, and to investigate correlations between genotype and phenotype. METHODS: Single-strand conformation polymorphism analysis and sequencing of fragments with abnormal MYH7 gene mobility were carried out in 128 consecutive index patients with HCM. The phenotypes of patients with and without mutations were compared and the phenotypes of identified families were recorded. RESULTS: A total of 11 mutations were found in 13 families (10%); 7/11 had been previously described. The I736T mutation was found in three families and the A797T in two. One patient had two mutations (i.e., I736T and R787H). Mutations were more frequent in patients with a family history of sudden death (31%) and in those with severe hypertrophy (39% had a thickness > or = 30 mm). Mutations were found in 29 of 42 members of the 13 families, including six family members (20%) who were healthy carriers and aged < or = 36 years. Sudden death had occurred in eight members of four families: four in two families with the I736T mutation, one in a family with A797T, one in a family with R870H, and two in a family with A901P. CONCLUSIONS: MYH7 mutations were present in 10% of our families. Mutations were more frequent in patients with a family history of sudden death and in those with severe hypertrophy. Most mutations had been described previously. Some appeared in several families. For some mutations, the correlation between genotype and phenotype was stable, while for others, there were marked differences between the phenotypes of the index patients and their relatives, suggesting the presence of additional genetic factors that have yet to be identified.

Adolescent↗
PubMed2005

Exercise intolerance in adult congenital heart disease: comparative severity, correlates, and prognostic implication.

BACKGROUND: Although some patients with adult congenital heart disease (ACHD) report limitations in exercise capacity, we hypothesized that depressed exercise capacity may be more widespread than superficially evident during clinical consultation and could be a means of assessing risk. METHODS AND RESULTS: Cardiopulmonary exercise testing was performed in 335 consecutive ACHD patients (age, 33+/-13 years), 40 non-congenital heart failure patients (age, 58+/-15 years), and 11 young (age, 29+/-5 years) and 12 older (age, 59+/-9 years) healthy subjects. Peak oxygen consumption (peak VO2) was reduced in ACHD patients compared with healthy subjects of similar age (21.7+/-8.5 versus 45.1+/-8.6; P<0.001). No significant difference in peak VO2 was found between ACHD and heart failure patients of corresponding NYHA class (P=NS for each NYHA class). Within ACHD subgroups, peak VO2 gradually declined from aortic coarctation (28.7+/-10.4) to Eisenmenger (11.5+/-3.6) patients (P<0.001). Multivariable correlates of peak VO2 were peak heart rate (r=0.33), forced expiratory volume (r=0.33), pulmonary hypertension (r=-0.26), gender (r=-0.23), and body mass index (r=-0.19). After a median follow-up of 10 months, 62 patients (18.5%) were hospitalized or had died. On multivariable Cox analysis, peak VO2 predicted hospitalization or death (hazard ratio, 0.937; P=0.01) and was related to the frequency and duration of hospitalization (P=0.01 for each). CONCLUSIONS: Exercise capacity is depressed in ACHD patients (even in allegedly asymptomatic patients) on a par with chronic heart failure subjects. Lack of heart rate response to exercise, pulmonary arterial hypertension, and impaired pulmonary function are important correlates of exercise capacity, as is underlying cardiac anatomy. Poor exercise capacity identifies ACHD patients at risk for hospitalization or death.

Adolescent↗
PubMed2005

Pulmonary regurgitation: not a benign lesion.

Pulmonary regurgitation (PR) is a common complication after surgical or percutaneous relief of pulmonary stenosis and following repair of tetralogy of Fallot. Significant PR is usually well tolerated in childhood. However, in the long term, chronic PR has a detrimental effect on right ventricular (RV) function and exercise capacity and leads to an increased risk of arrhythmia and sudden cardiac death (SCD). Recent advances in non-invasive imaging and, in particular, wider availability of cardiovascular magnetic resonance (CMR), have improved the assessment of PR and RV function in these patients. This in turn has facilitated decision making on the optimal timing for elective pulmonary valve replacement (PVR), which should be performed before irreversible RV dysfunction ensues.

Arrhythmias, Cardiac↗
PubMed2005

[Pulmonary arterial hypertension in adults with congenital heart disease].

Pulmonary arterial hypertension is a chronic, persistent elevation in pulmonary artery pressure without evidence of left heart failure. Pulmonary hypertension is common in patients with adult congenital heart disease and is usually the result of an increase of pulmonary blood flow through a large left to right shunt. This condition is progressive and patients are symptomatic and usually die between the third and fifth decades of life. To date, there is no standardized treatment for this condition and a general policy of non-intervention to avoid destabilization of the balanced physiology is recommended. Intravenous prostanoids have been shown to have an effect but they are invasive and associated with major side effects. Lung and combined heart and lung transplantation might be a therapeutic option for selected patients. However, donor shortage is a major issue. Oral advanced therapies have been recently shown to improve haemodynamics and survival in idiopathic pulmonary hypertension or in pulmonary hypertension related to scleroderma and may have a role in patients with pulmonary hypertension secondary to congenital heart disease.

Eisenmenger Complex↗
PubMed2004

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC, and 32 sporadic DC). From genomic DNA, coding regions of the LMNA gene were amplified by polymerase chain reaction, studied by single-strand conformation polymorphism, and cycle sequenced. Mutations were confirmed by restriction fragment length polymorphism. Two disease-causing mutations were found in families A and B. In family A, a novel R349L mutation was present in the mother and her identical twin daughters. They required cardiac transplantation at 36, 18, and 20 years of age. In family B, the R190W mutation was present in 2 cousins with DC and without conduction system disease (1 had cardiac transplantation at 45 years of age and 1 died suddenly at 46 years of age) and in 2 of their sons. The mothers of the 2 affected patients died due to cardiac causes in their 40s (1 died suddenly). One of the carriers fulfilled diagnostic criteria for isolated left ventricular noncompaction. Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompaction may be part of the phenotypic spectrum of the laminopathies.

Adolescent↗
PubMed2002

[Familial dilated cardiomyopathy in patients transplanted for idiopathic dilated cardiomyopathy].

OBJECTIVE: To evaluate the prevalence, clinical features, and pattern of inheritance of familial dilated cardiomyopathy (DCM) in heart transplant patients. PATIENTS AND METHOD: Patients with idiopathic DCM who had undergone heart transplantation were invited to participate. Patients with alcohol abuse were excluded. A clinical evaluation, 12-lead ECG, echocardiogram, blood tests, and DNA extraction were performed in patients and relatives. Familial DCM was defined as the presence of at least one relative with idiopathic DCM. Possible familial DCM was considered when at least one relative had left ventricular enlargement (LVE) (> 112% predicted LVEDD). RESULTS: One hundred and ninety-nine relatives of 43 families were studied. DCM was familial in 11 probands (25.6%) and possibly familial in 11 (25.6%). Fifteen relatives had DCM (7.5%), 26 (13.1%) LVE, and 5 (2.5%) hypertrophic cardiomyopathy. The pattern of inheritance was autosomal dominant in most families. Five probands (3 with familial DCM) had antecedents of consanguinity and possible recessive inheritance. Six probands (14%, 1 with familial DCM) had relatives with conduction system defects. Creatine kinase was moderately increased in 9 relatives (4.5%), 3 of them with LVE. Fifteen patients had at least moderate alcohol intake. Three of them had familial DCM (relatives without alcohol abuse) and 6 had possible familial DCM. CONCLUSIONS: The prevalence of familial DCM is high in patients who undergo heart transplant. Left ventricular enlargement, conduction system abnormalities, and elevated creatine kinase may be early markers of familial disease. Hypertrophic cardiomyopathy is present in some relatives of patients with idiopathic DCM. Familial DCM is present in patients with a previous diagnosis of alcoholic DCM.

Biomarkers↗
PubMed2002

Effect of left ventricular global systolic function, mitral regurgitation, and left ventricular inflow pattern on exercise echocardiography results.

Diagnosis of coronary artery disease (CAD) by exercise echocardiography is usually based on rest or exercise-induced regional wall-motion abnormalities. Mitral regurgitation (MR), left ventricular (LV) global systolic function, and LV inflow measurements can be assessed during exercise echocardiography; however, their diagnostic value has not been analyzed consistently. Treadmill exercise echocardiography and coronary angiography were performed in 120 patients (94 male, 26 female; mean age 61 +/- 10 years [+/- 1 SD]) to evaluate known or suspected CAD. Positive exercise echocardiography was defined either as a rest- or exercise-induced regional wall-motion abnormalities. An abnormal response of LV ejection fraction (EF), LV volumes, MR (as assessed by color Doppler), and LV inflow pattern was defined as a fall in LVEF, a LV end-diastolic volume increase, a LV end-systolic volume increase, a new or increased MR, or a change from an impaired relaxation pattern (E < A) to a "pseudonormalized" pattern (E > A) from rest to exercise, respectively. CAD (> or = 50% luminal narrowing in at least one vessel) was found in 89 (74%) patients. EE-based regional wall-motion abnormality analysis was positive in 95 (79%) patients and negative in 25 (21%) patients. Feasible images for regional wall-motion abnormalities, LVEF and volumes, LV inflow, and MR measurements were acquired in 90% of patients. Regional wall-motion abnormality analysis and LVEF decrease provided the greatest sensitivities for CAD (94% and 75%, respectively), while the highest specificity was given by a new or increased MR (90%), the development of a pseudonormalized pattern (88%), and the appearance of angina (87%). A positive electrocardiogram (ECG) finding in patients with interpretable ECGs provided good sensitivity and specificity (67% and 85%, respectively). In conclusion, a complete rest and exercise Doppler echocardiography approach is feasible in most patients. Regional wall-motion abnormalities are the most accurate exercise echocardiography variable for diagnosing CAD, whereas exercise ECG remains a good test in patients with interpretable ECGs. Exercise echocardiography, exercise ECG, newly developed or increased MR, and change to a pseudonormalized LV inflow pattern are highly specific.

Aged↗