Absence of the aortic valve associated with hypoplastic left-sided heart syndrome

In this report we describe the twelveth case in the literature of absence of the aortic valve cusps, associated with hypoplastic left-sided heart syndrome in a neonate. Clinical and hemodynamic conditions in our patient resemble the classical features of this syndrome except for a greater development of the ascending aorta and the left ventricular cavity, due to aortic insufficiency. A patch was unsuccessfully inserted at the aortic annulus to exclude the left ventricle from the circulation. In addition the Norwood operation was performed.

Hantavirus Pulmonary Syndrome: Report of the first three cases in São Paulo, Brazil

The hantavirus pulmonary syndrome was first recognized in cases that occurred in the U.S. in 1993, which served as an alert not only for American physicians but also for physicians in other countries for the identification of the disease. In the city of São Paulo, Brazil, 3 cases of the syndrome were recorded in 1993. The patients were young brothers residing in the Mata Atlântica (Atlantic Forest) region submitted to recent deforestation. Two of the patients died of acute respiratory insufficiency and the third recovered without sequelae. In the surviving patient the diagnosis was established by a laboratory criterion based on the detection of specific IgM and IgG class antibodies by indirect immunofluorescence. In the two patients who died, the diagnosis was confirmed by laboratory tests using immunoperoxidase technique for hantavirus in tissue, in histological lung and heart sections in one case, and by clinical and epidemiological data in the other

The hemorrhagic syndrome of leptospirosis: an experimental study in guinea pigs

The hemorrhagic syndrome of leptospirosis was studied in guinea pigs. The study correlates hematological, histopathological and immunohistochemical alterations in sixty animals inoculated by the intraperitoneal route with lml of the culture of virulent strain of Leptospira interrogans serovar copenhageni. Leptospirae antigens were detected by immunoperoxidase, chiefly in liver, kidney and heart muscle capillaries. Possible pathogenic mechanisms responsible for hemorrhagic syndrome are discussed with emphasis on toxic and anoxic attacks causing damage to endothelia, platelet depletion and alterations to hemostasia rates: prothrombin time [FT], partial thromboplastin time [PIT] and fibrinogen concentrations. Tide clinical-laboratoiy picture is compatible with the histopathological observation of disseminated intravascular coagulation [D1C] in most of the guinea pigs from day 4 of infection.

Differing phagocytic function of monocytes and neutrophils in Chagas' cardiopathy according to the presence or absence of congestive heart failure

We evaluated the in vitro phagocytic function and the production of microbicidal oxygen radicals by monocytes and neutrophils of 9 Chagas' heart disease subjects with heart failure and 9 without the syndrome in comparison with 11 healthy subjects, by assessing phagocytosis of Saccharomyces cerevisiae and NBT reduction by peripheral blood phagocytes. Phagocytic index of monocytes of chagasics without heart failure was significantly 6.7 and 10.6 times lower than those of controls and chagasics with the congestive syndrome, respectively, due to a lesser engagement in phagocytosis and to an inability of these cells to ingest particles. Neutrophils also show in chagasics without heart failure PI 11.2 and 19.8 times lower than that of controls and chagasics with heart failure, respectively. The percent of NBT reduction was normal and similar for the three groups. Balanced opposite effects of cardiovascular and immune disturbances may be acting in Chagas' disease subjects with heart failure paradoxically recovering the altered phagocytic function.

Clinical and laboratory findings related to a favorable evolution of hantavirus pulmonary syndrome

The medical records of 27 patients with hantavirus pulmonary syndrome were analyzed according to the need for invasive mechanical ventilation in relation to the following data up on hospital admission: age, gender, fever, cough, dyspnea, systolic arterial blood pressure, heart rate, levels of hemoglobin, hematocrit, leukocytes, lymphocytes, platelets, creatinine and arterial blood gases. The volume infused during the first 24 hours after admission, the use of inotropic agents, the use of corticosteroids and the patient outcomes were also evaluated. A favorable outcome was related to systolic blood pressure³ 100mmHg, heart rate lower than 100 beats per minute, creatinine below 1.6mg/dl, arterial blood pH³ 7.35, bicarbonate higher than 15mEq/dl, oxygen saturation higher than 84.1%, lower rehydration volume in the first 24 hours of hospitalization and no use of inotropic agents. Absence of clinical and laboratory signs of circulatory shock up on admission was associated with a favorable outcome of the patients.

Frequency of metabolic syndrome and the food intake patterns in adults living in a rural area of Brazil

INTRODUCTION: Metabolic syndrome (MetS), a risk factor for atherosclerosis and coronary heart disease, is related to an inadequate food intake pattern. Its incidence is increasing among Brazilian adults, including those living in rural areas. Our aim was not only to describe the frequency of MetS in adults with or without MetS but also to compare their food intake pattern as assessed by the healthy eating index (HEI) and serum albumin and C reactive protein (CRP) levels. METHODS: Men and women (n = 246) living in a small village in Brazil were included. MetS was characterized according to the adult treatment panel (ATP III) criteria. Groups were compared by chi-square, student t or Mann-Whitney tests. RESULTS: MetS was diagnosed in 15.4% of the cases. The MetS group showed higher CRP (1.8±1.2 vs. 1.0±0.9 mg/dl) and lower albumin (4.3±0.3 vs. 4.4±0.3 g/dl) serum levels compared to the control group. Additionally, the MetS group showed lower scores (median[range]) in the HEI compared to the control group (53.5[31.2-78.1] vs 58[29.7-89.5], respectively). The MetS group also had decreased scores for total fat and daily variety of food intake. CONCLUSIONS: The results suggest that adults with MetS displayed chronic mild inflammation and a poorer food intake pattern than the control group.

Blue rubber bleb nevus syndrome

The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race. We present a case of this syndrome diagnosed in a 11-year-old patient. He had severe anemia and a venous swelling on the trunk. Similar lesions were found in the stomach, bowel, and on his foot. We emphasize the main clinical aspects: intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions, systemic complications that may occur to these patients which are thrombosis and calcification, as well as consumptive coagulopathy and thrombocytopenia that may occur within the nevi.

Widespread hematogenous metastases and Trousseau's syndrome in gastric adenocarcinoma

A case of widespread hematogenous metastases and Trousseau's syndrome is reported in a 40 year-old white housewife with gastric cancer, presenting subdural hematoma, ecchymoses, epistaxis, stomach and uterine bleeding. After undergoing hematoma drainage, she was unsuccessfully treated with platelets, red blood cells, plasma cryoprecipitate transfusions, and antibiotics. Necropsy disclosed gastric ring-signet adenocarcinoma invading the serous layer, with massive disseminated intravascular coagulation and systemic neoplastic embolism. Multiple old and recent hyaline (rich in fibrin and platelets) microthrombi, and tumor emboli were observed in the bone marrow, meninges, liver, lungs, kidneys, lymph nodes, adrenals, thyroid, heart, pancreas, and ovaries (Krukenberg tumor).

Cardiac abnormalities in the acquired immunodeficiency syndrome. A prospective study with a clinical-pathological correlation in twenty-one adult patients

OBJECTIVE - To evaluate the cardiac abnormalities and their evolution during the course of the acquired immunodeficiency syndrome, as well as to correlate clinical and pathological data. METHODS - Twenty-one patients, admitted to the hospital with the diagnosis of acquired immunodeficiency syndrome, were prospectively studied and followed until their death. Age ranged from 19 to 42 years (17 males). ECG and echocardiogram were also obtained every six months. After death, macro- and microscopic examinations were also performed. RESULTS - The most frequent causes of referral to the hospital were: diarrhea or repeated pneumonias, tuberculosis, toxoplasmosis or Kaposi sarcoma. The most frequent findings were acute or chronic pericarditis (42%) and dilated cardiomyopathy (19%). Four patients died of cardiac problems: infective endocarditis, pericarditis with pericardial effusion, bacterial myocarditis and infection by Toxoplasma gondii. CONCLUSION - Severe cardiac abnormalities were the cause of death in some patients. In the majority of the patients, a good correlation existed between clinical and anatomical-pathological data. Cardiac evaluation was important to detect early manifestations and treat them accordingly, even in asymptomatic patients.

Holt-Oram syndrome revisited. Two patients in the same family

Holt-Oram syndrome was first described in 1960 as an association of familial heart disease and musculoskeletal abnormalities. The most important findings include atrial septal defects, atrioventricular conduction abnormalities, vascular hypoplasia, and upper limb musculoskeletal deformities. We report two patients with this syndrome in the same family and discuss the variability of the musculoskeletal abnormalities and their association with the cardiac morphologic defects. Both patients in this study had associated eosinophilia, which has not been reported in the literature.

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.

ProBNP for stratifying patients with heart failure

OBJECTIVE: To verify whether the serum levels of N-Terminal ProBNP fraction (ProBNP) allow us to identify with accuracy the clinical functional status of patients with heart failure (HF), because the clinical diagnosis of this syndrome is based basically on clinical data when the complementary tests have lower specificity. METHODS: Sixty-nine patients with a history of HF were studied. Their mean age of was 53.5 years and 78.3% were males. All underwent clinical and echocardiographic evaluations and a test to determine the serum dosage of ProBNP. According to clinical manifestation, patients were in the following functional classes (FC), 14% FC I, 40.6% FC II, 28.1% FC III, and 23.4% FC IV. The mean ejection fraction (EF) was 0.28. RESULTS: ProBNP did not differ according to age, sex, and cause of cardiopathy. No correlation existed between EF and the ProBNP serum level. ProBNP levels were significantly lower in patients in FC I than those in FC II (42 vs 326.7 pmol/L; P=0.0001), and in FC II than those in FC III (P=0.01). ProBNP levels did not differ statically between FC III and IV patients (888.1 vs 1082.8 pmol/L; P=0.25). ProBNP values greater than 100 pmol/L identify patients with decompensated HF with a sensitivity of 98%. CONCLUSION: ProBNP values over 100 pmol/L were indicative of HF, and patients with advanced HF had values over 270 pmol/L. A ProBNP dosage test was an excellent auxiliary in the clinical characterization of patients with HF.

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.

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.