Décio Pereira

Is Mitral Valve Prolapse a Congenital or Acquired Disease

The prevalence of mitral valve prolapse (MVP) at birth was studied in 1,734 consecutive newborns without congenital structural heart disease. We have not identified any case of an unequivocal pattern of MVP using auscultatory and echocardiographic diagnostic criteria. Our data argue for the concept that MVP is an acquired disease.

Comparison of left ventricular ejection fraction in congenital heart disease by visual versus algorithmic determination.

Two-dimensional (2D) echocardiographic visual estimation of left ventricular (LV) ejection fraction (EF) in patients with acquired heart disease yields results that are comparable to those obtained by recommended algorithms. However, there is no information concerning its accuracy in congenital heart disease. This study compares applicability, accuracy, and reproducibility of LVEF by visual estimation with that by currently used algorithms (cylinder hemiellipsoid, ellipsoid biplane, and biplane method of disks) in 92 consecutive patients with congenital heart disease but unrepaired complete atrioventricular septal defect, univentricular heart, and hypoplastic left ventricle, using 3D echocardiography as the reference method. Visual estimation of LVEF could be applied in all cases. Because of technically inadequate 2D echocardiographic images for volume measurement, analysis for comparison could be performed in 71 patients (77%), aged 1 day to 47 years. The correlation between 3D echocardiographic and visual estimation was 0.91 (SEE 3.3%), cylinder hemiellipsoid, 0.86 (SEE 3.9%), ellipsoid biplane 0.87 (SEE 3.9%), and biplane method of disks 0.93 (SEE 3.2%). Intraobserver variability was similar for all 2D echo methods. Interobserver variability was greater for visual estimation. In conclusion, visual estimation of LVEF is applicable to most patients with congenital heart disease, yielding results that are comparable to those obtained by currently used 2D echocardiographic algorithms.

Association of ADAMTS7 gene polymorphism with cardiovascular survival in coronary artery disease.

Recent genetic studies have revealed an association between polymorphisms at the ADAMTS7 gene locus and coronary artery disease (CAD) risk. Functional studies have shown that a CAD-associated polymorphism (rs3825807) affects ADAMTS7 maturation and vascular smooth muscular cell (VSMC) migration. Here, we tested whether ADAMTS7 (A/G) SNP is associated with cardiovascular (CV) survival in patients with established CAD. A cohort of 1,128 patients with angiographic proven CAD, who were followed up prospectively for a mean follow-up period of 63 (range 6-182) mo, were genotyped for rs3825807 A/G. Survival statistics (Cox regression) compared heterozygous (AG) and wild-type (AA) with the reference homozygous GG. Kaplan-Meier (K-M) survival curves were performed according to ADAMTS7 genotypes for CV mortality. Results showed that 47.3% of patients were heterozygous (AG), 36.5% were homozygous for the wild-type allele (AA) and only 16.2% were homozygous for the GG genotype. During the follow-up period, 109 (9.7%) patients died, 77 (6.8%) of CV causes. Survival analysis showed that AA genotype was an independent risk factor for CV mortality compared with reference genotype GG (HR = 2.7, P = 0.025). At the end of follow-up, the estimated survival probability (K-M) was 89.8% for GG genotype, 82.2% for AG and 72.3% for AA genotype (P = 0.039). Carriage of the mutant G allele of the ADAMTS7 gene was associated with improved CV survival in patients with documented CAD. The native overfunctional ADAMTS7 allele (A) may accelerate VSMC migration and lead to neointimal thickening, atherosclerosis progression and acute plaque events. ADAMTS7 gene should be further explored in CAD for risk prediction, mechanistic and therapeutic goals.

Relationship between ADD1 Gly460Trp gene polymorphism and essential hypertension in Madeira Island

Abstract Essential hypertension (EH) is a complex disease in which physiological, environmental, and genetic factors are involved in its genesis. The genetic variant of the alpha-adducin gene (ADD1) has been described as a risk factor for EH, but with controversial results. The objective of this study was to evaluate the association of ADD1 (Gly460Trp) gene polymorphism with the EH risk in a population from Madeira Island. A case-control study with 1614 individuals of Caucasian origin was performed, including 817 individuals with EH and 797 controls. Cases and controls were matched for sex and age, by frequency-matching method. All participants collected blood for biochemical and genotypic analysis for the Gly460Trp polymorphism. We further investigated which variables were independently associated to EH, and, consequently, analyzed their interactions. In our study, we found a significant association between the ADD1 gene polymorphism and EH (odds ratio 2.484, P = .01). This association remained statistically significant after the multivariate analysis (odds ratio 2.548, P = .02). The ADD1 Gly460Trp gene polymorphism is significantly and independently associated with EH risk in our population. The knowledge of genetic polymorphisms associated with EH is of paramount importance because it leads to a better understanding of the etiology and pathophysiology of this pathology.

A variante genética c825t da subunidade β3 da proteína G associa‐se com a hipertensão arterial numa população portuguesa

INTRODUCTION Hypertension is an important public health problem, affecting about 25% of the adult population worldwide.1 Genetic and environmental factors contribute to its pathogenesis. The T allele of the C825T polymorphism of the beta 3 subunit of G protein (rs5443) leads to the production of a truncated variant that enhances intracellular signaling and may interfere with the regulation of blood pressure. This genetic variant has been described as a risk factor for hypertension, although study results are controversial. OBJECTIVE The objective of this study was to analyze the association of the C825T polymorphism of the GNB3 gene with the occurrence of hypertension in a Portuguese population from the Madeira archipelago. METHODS A case-control study was performed with 1641 Caucasian individuals (mean age 50.6±8.1 years), 848 with hypertension and 793 controls. Blood was collected from all participants for biochemical and genetic analysis, including genotyping of the C825T polymorphism. Logistic regression analysis was performed to determine which variables were significantly associated with the onset of hypertension. Statistical analyses were performed using IBM SPSS version 19.0 and p-values <0.05 were considered statistically significant. RESULTS In our study, there was a significant association between the C825T polymorphism of the GNB3 gene and the occurrence of hypertension (odds ratio 1.275; 95% confidence interval 1.042-1.559; p=0.018) in the dominant model, after multivariate analysis. CONCLUSION We conclude that the C825T polymorphism of the beta 3 subunit of G protein is significantly and independently associated with the occurrence of hypertension in the study population.

Genetic risk score and cardiovascular mortality in a southern european population with coronary artery disease

Several genetic risk scores (GRS) have been associated with cardiovascular disease; their role, however, in survival from proven coronary artery disease (CAD) have yielded conflicting results.

Aortic Dissection Mimicking ST Elevation Myocardial Infarction

the false lumen and no ostia originating from it. Thoracic and abdominal angio-CT scan confirmed type A aortic dissection extending to abdominal aorta and right iliac artery (Fig.s 1C, 1D). Acute type A aortic dissection can be difficult to diagnose and can mimic STEMI.1 Although right coronary artery is more often involved when myocardial infarction is present, this diagnose has to be considered when difficulty is present in selective catheterization of either ostia.2 Aortic Dissection Mimicking ST Elevation Myocardial Infarction

Interrupted aortic arch in a 58-year-old patient

Received 22 December 2015; revision accepted for publication 8 February 2016. A 58-year-old male patient was evaluated in the cardiology outpatient setting after an episode of hypertension and atrial fibrillation. He was also an ex-smoker. Echocardiogram revealed slight left ventricular dilation with diastolic dysfunction and a systolic function in the lower normality level, as well as a rheumatic valvar disease with moderate mitral stenosis and slight aortic valve involvement, atrial enlargement and pulmonary hypertension. After an episode of acute pulmonary oedema the patient was referred for coronary catheterization. A right femoral approach was attempted and progression of the guidewire was not possible due to an interrupted aortic arch (IAA) (figure 1A), that was confirmed by right radial approach (figure 1B). The coronary arteries had no significant stenosis but the circumflex artery had an anomalous origin. A CT-scan confirmed an interrupted aortic arch (IAA) in the descending aorta, 27 mm below the left subclavian artery, and a short, 15-mm occluded segment Interrupted aortic arch in a 58-year-old patient

Unroofed coronary sinus: multi-modality evaluation

Received 22 December 2015; revision accepted for publication 29 April 2016. A 61-year-old man was referred for mild exercise intolerance. He had a previous history of chronic obstructive pulmonary disease, arterial hypertension and was an ex-smoker. Physical examination revealed a systolic murmur and his electrocardiogram showed sinus rhythm and an incomplete right bundle-branch block. A transthoracic echocardiogram was performed and showed mild left ventricular hypertrophy, mild rheumatic mitro-aortic disease, left atrial (LA) enlargement and dilated right ventricle (figure 1 A-D), dilated coronary sinus (CS) (panel A, small arrow) and a prominent CS flux into right atria (RA) (panel C, D, large arrow). Transoesophageal echocardiography revealed a communication between the LA and the RA through a dilated coronary sinus (panel E, large arrow). A cardiac computed tomography confirmed the diagnosis of an unroofed coronary sinus showing the shunt between LA and RA through a dilated CS (panel F, large arrow). Unroofed coronary sinus: multi-modality evaluation

Incomplete Shone’s complex: adult age diagnosis

Received 22 December 2015; revision accepted for publication 13 January 2016. A 25-year-old male with previous history of heart surgery was referred for a control echocardiogram. He had been operated when he was 5 years old for reparation of aortic coarctation and the excision of a subaortic membrane, and was then lost to follow-up. No other changes were detected previously or during surgery. The patient was clinically stable without medication and the physical exam was unremarkable. The echocardiogram showed normal left ventricular function, but bicuspid aortic valve (figure 1 A), conditioning mild aortic stenosis, and a parachute mitral valve (figure 1 B, C) with single papillary muscle (figure 1 D, E – arrow) were present, with slight increase in transmitral velocity and mild regurgitation. No residual coarctation was present. Shone’s complex is a rare congenital heart disease consisting of several levels of left-sided obstructive lesions including supravalvar mitral ring, parachute mitral valve, Incomplete Shone’s complex: adult age diagnosis