Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)

Total generalized lipodystrophy (Berardinelli--Seip Syndrome) is a rare hereditary disease characterized by insulin-resistant diabetes mellitus and a small quantity of adipose tissue and is of unknown origin. Common cardiovascular alterations related to this syndrome are cardiac hypertrophy and arterial hypertension. This article reports a case of Berardinelli--Seip syndrome and reviews the literature with special emphasis on the cardiovascular manifestations of this syndrome.

Cantrell Syndrome. Case report of an adult

Cantrell syndrome is characterized by defects that involve the diaphragm, abdominal wall, pericardium, heart, and lower region of the sternum. It is a rare entity, usually diagnosed at birth and accompanied by high mortality due to the complexity and gravity of the anomalies. In this report, we present a 32-year-old male patient, who was diagnosed in infancy but who reached adult age asymptomatic.

Cardiac findings in 31 patients with Noonan's syndrome

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.

Cardiovascular assessment of patients with Ullrich-Turner's Syndrome on Doppler echocardiography and magnetic resonance imaging

OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients. The diagnostic concordance between the 2 methods was also assessed. METHODS: Fifteen patients with the syndrome were assessed by echocardiography and magnetic resonance imaging (cardiac chambers, valves, and aorta). Their ages ranged from 10 to 28 (mean of 16.7) years. The karyotype was analyzed in 11 or 25 metaphases of peripheral blood lymphocytes, or both. RESULTS: The most common phenotypic changes were short stature and spontaneous absence of puberal development (100%); 1 patient had a cardiac murmur. The karyotypes detected were as follows: 45,X (n=7), mosaics (n=5), and deletions (n=3). No echocardiographic changes were observed. In regard to magnetic resonance imaging, coarctation and dilation of the aorta were found in 1 patient, and isolated dilation of the aorta was found in 4 patients. CONCLUSION: The frequencies of coarctation and dilation of the aorta detected on magnetic resonance imaging were similar to those reported in the literature (5.5% to 20%, and 6.3% to 29%, respectively). This confirmed the adjuvant role of magnetic resonance imaging to Doppler echocardiography for diagnosing cardiovascular alterations in patients with Ullrich-Turner's syndrome.

Arterial Hypertension in a Child with Williams-Beuren Syndrome (7q11.23 Chromosomal Deletion)

We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.

Marfan's syndrome: early and severe form in siblings

Marfan's syndrome is an inherited disorder of the connective tissue. Cardiologic manifestations, especially aortic dilation, are important causes of morbidity and mortality in the clinical course of the disease in adults and teenagers. In children, the presence of aortic aneurysm and its dissection or rupture is rare, occurring in patients with genetic mutation of the fibrillin gene but not in those who have the familial form of the disease. We describe here 2 patients, from the same family (siblings), diagnosed with gigantic aortic aneurysm early in infancy, one of them successfully undergoing surgery.

Behavior of inflammatory markers of myocardial injury in cardiac surgery: laboratory correlation with the clinical picture of postpericardiotomy syndrome

OBJECTIVE: To verify the association of serum markers of myocardial injury, such as troponin I, creatinine kinase, and creatinine kinase isoenzyme MB, and inflammatory markers, such as tumor necrosis factor alpha (TNF-alpha), C-reactive protein, and the erythrocyte sedimentation rate in the perioperative period of cardiac surgery, with the occurrence of possible postpericardiotomy syndrome. METHODS: This was a cohort study with 96 patients undergoing cardiac surgery assessed at the following 4 different time periods: the day before surgery (D0); the 3rd postoperative day (D3); between the 7th and 10th postoperative days (D7-10); and the 30th postoperative day (D30). During each period, we evaluated demographic variables (sex and age), surgical variables (type and duration , extracorporeal circulation), and serum dosages of the markers of myocardial injury and inflammatory response. RESULTS: Of all patients, 12 (12.5%) met the clinical criteria for a diagnosis of postpericardiotomy syndrome, and their mean age was 10.3 years lower than the age of the others (P=0.02). The results of the serum markers for tissue injury and inflammatory response were not significantly different between the 2 assessed groups. No significant difference existed regarding either surgery duration or extracorporeal circulation. CONCLUSION: The patients who met the clinical criteria for postpericardiotomy syndrome were significantly younger than the others were. Serum markers for tissue injury and inflammatory response were not different in the clinically affected group, and did not correlate with the different types and duration of surgery or with extracorporeal circulation.

Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization

OBJECTIVE: To evaluate the cardiovascular findings and clinical follow-up of patients with Williams-Beuren syndrome. METHODS: We studied 20 patients (11 males, mean age at diagnosis: 5.9 years old), assessed for cardiovascular abnormalities with electrocardiography and Doppler echocardiography. Fluorescence in situ hybridization (FISH) was used to confirm the diagnosis of the syndrome. RESULTS: Elastin gene locus microdeletion was detected in 17 patients (85%) (positive FISH), and in 3 patients deletion was not detected (negative FISH). Sixteen patients with a positive FISH (94%) had congenital cardiovascular disease (mean age at diagnosis: 2,3 years old). We observed isolated (2/16) supravalvular aortic stenosis and supravalvular aortic stenosis associated (11/16) with pulmonary artery stenosis (4/11); mitral valve prolapse (3/11); bicuspid aortic valve (3/11); aortic coarctation (2/11), thickened pulmonary valve (2/11); pulmonary valvular stenosis (1/11); supravalvular pulmonary stenosis (1/11); valvular aortic stenosis (1/11); fixed subaortic stenosis (1/11); pulmonary artery stenosis (2/16) associated with pulmonary valvar stenosis (1/2) and with mitral valve prolapse (1/2); and isolated mitral valve prolapse (1/16). Four patients with severe supravalvular aortic stenosis underwent surgery (mean age: 5.7 years old), and 2 patients had normal pressure gradients (mean follow-up: 8.4 years). CONCLUSION: A detailed cardiac evaluation must be performed in all patients with Williams-Beuren syndrome due to the high frequency of cardiovascular abnormalities.

Left Atrial Volume Index and Prediction of Events in Acute Coronary Syndrome: Solar Registry

Background: According to some international studies, patients with acute coronary syndrome (ACS) and increased left atrial volume index (LAVI) have worse long-term prognosis. However, national Brazilian studies confirming this prediction are still lacking. Objective: To evaluate LAVI as a predictor of major cardiovascular events (MCE) in patients with ACS during a 365-day follow-up. Methods: Prospective cohort of 171 patients diagnosed with ACS whose LAVI was calculated within 48 hours after hospital admission. According to LAVI, two groups were categorized: normal LAVI (≤ 32 mL/m2) and increased LAVI (> 32 mL/m2). Both groups were compared regarding clinical and echocardiographic characteristics, in- and out-of-hospital outcomes, and occurrence of ECM in up to 365 days. Results: Increased LAVI was observed in 78 patients (45%), and was associated with older age, higher body mass index, hypertension, history of myocardial infarction and previous angioplasty, and lower creatinine clearance and ejection fraction. During hospitalization, acute pulmonary edema was more frequent in patients with increased LAVI (14.1% vs. 4.3%, p = 0.024). After discharge, the occurrence of combined outcome for MCE was higher (p = 0.001) in the group with increased LAVI (26%) as compared to the normal LAVI group (7%) [RR (95% CI) = 3.46 (1.54-7.73) vs. 0.80 (0.69-0.92)]. After Cox regression, increased LAVI increased the probability of MCE (HR = 3.08, 95% CI = 1.28-7.40, p = 0.012). Conclusion: Increased LAVI is an important predictor of MCE in a one-year follow-up.

Association between Angiotensin-Converting Enzyme Inhibitors and Troponin in Acute Coronary Syndrome

Background:Cardiovascular disease is the leading cause of mortality in the western world and its treatment should be optimized to decrease severe adverse events.Objective:To determine the effect of previous use of angiotensin-converting enzyme inhibitors on cardiac troponin I measurement in patients with acute coronary syndrome without ST-segment elevation and evaluate clinical outcomes at 180 days.Methods:Prospective, observational study, carried out in a tertiary center, in patients with acute coronary syndrome without ST-segment elevation. Clinical, electrocardiographic and laboratory variables were analyzed, with emphasis on previous use of angiotensin-converting enzyme inhibitors and cardiac troponin I. The Pearson chi-square tests (Pereira) or Fisher's exact test (Armitage) were used, as well as the non-parametric Mann-Whitney's test. Variables with significance levels of <10% were submitted to multiple logistic regression model.Results:A total of 457 patients with a mean age of 62.1 years, of whom 63.7% were males, were included. Risk factors such as hypertension (85.3%) and dyslipidemia (75.9%) were the most prevalent, with 35% of diabetics. In the evaluation of events at 180 days, there were 28 deaths (6.2%). The statistical analysis showed that the variables that interfered with troponin elevation (> 0.5 ng / mL) were high blood glucose at admission (p = 0.0034) and ST-segment depression ≥ 0.5 mm in one or more leads (p = 0.0016). The use of angiotensin-converting inhibitors prior to hospitalization was associated with troponin ≤ 0.5 ng / mL (p = 0.0482). The C-statistics for this model was 0.77.Conclusion:This study showed a correlation between prior use of angiotensin-converting enzyme inhibitors and reduction in the myocardial necrosis marker troponin I in patients admitted for acute coronary syndrome without ST-segment elevation. However, there are no data available yet to state that this reduction could lead to fewer severe clinical events such as death and re-infarction at 180 days.

Prevalence of Burnout Syndrome in Patients Admitted with Acute Coronary Syndrome

Background: Burnout Syndrome is the extreme emotional response to chronic occupational stress, manifesting as physical and mental exhaustion. Although associated with higher prevalence of cardiovascular risk factors, no study so far has evaluated whether the Burnout Syndrome could be a prevalent factor in non-elderly individuals active in the labor market, admitted for acute coronary syndrome (ACS). Objective: To evaluate the prevalence of the Burnout Syndrome in non-elderly, economically active patients, hospitalized with ACS. Methods: Cross-sectional study conducted in a tertiary and private cardiology center, with economically active patients aged <65 years, hospitalized with diagnosis of ACS. The Burnout Syndrome was evaluated with the Burnout Syndrome Inventory (BSI), which assesses workplace conditions and four dimensions that characterize the syndrome: emotional exhaustion (EE), emotional distancing (EmD), dehumanization (De) and professional fulfillment (PF). The Lipp’s Stress Symptoms Inventory for Adults (LSSI) was applied to evaluate global stress. Results: Of 830 patients evaluated with suspected ACS, 170 met the study criteria, 90% of which were men, overall average age was 52 years, and 40.5% had an average income above 11 minimum wages. The prevalence of the Burnout Syndrome was 4.1%. When we evaluated each dimension individually, we found high EE in 34.7%, high De in 52.4%, high EDi in 30.6%, and low PF in 5.9%. The overall prevalence of stress was 87.5%. Conclusion: We found a low prevalence of Burnout Syndrome in an economically active, non-elderly population among patients admitted for ACS in a tertiary and private hospital.