[Massive aortic regurgitation with giant aorta aneurysm in Marfan syndrome] / Insuficiencia aórtica masiva con aneurisma de aorta gigante en síndrome de Marfan.

Marfan syndrome is an autosomal dominant hereditary disease that compromises various systems that usually require a multidisciplinary approach. The cause of Marfan syndrome is unknown, but recent genetic studies have related this disease to an extracellular microfibrillar defect located on chromosome 15q15-q21.3. Due to the severity of the signs and symptoms the diagnosis is usually at a very young age. We report a patient with extreme Marfan syndrome with all the particulars that this syndrome offers.

El síndrome de Marfan es una enfermedad hereditaria autosómica dominante que compromete diversos sistemas que habitualmente requieren un enfoque multidisciplinario. La causa del síndrome de Marfan es desconocida, pero recientes estudios genéticos han relacionado esta enfermedad a un defecto microfibrilar extracelular localizado en el cromosoma 15q15-q21,3. Debido a la severidad de los signos y síntomas el diagnóstico suele ser a edad muy temprana. Reportamos un paciente con síndrome de Marfan extremo con todas las particulares que éste síndrome ofrece.

Functional and structural alterations of cardiac and skeletal muscle mitochondria in heart failure patients.

BACKGROUND AND AIMS: The fundamental mechanisms involved in the genesis and progression of heart failure are not clearly understood. The present study was conducted to analyze the cardiac mitochondrial involvement in heart failure, the possible parallelism between cardiac and skeletal muscle and if there is a link between clinical symptoms and mitochondrial damage. METHODS: Left ventricle and pectoral biopsies were obtained from patients with heart failure (n: 21) and patients with inter-auricular communication as the unique diagnosis for surgery (n: 6). Mitochondria were isolated from these tissues and studied through electron microscopy, spectrophotometry to measure the activity of respiratory complex III and immunohistochemistry to determine the presence of reactive oxygen species. RESULTS: More than 90% of cardiac and skeletal muscle mitochondria presented structural and functional alterations in relation to an increment in the reactive oxygen species production, even in patients without the presence of any clinical Framingham criteria. CONCLUSIONS: We demonstrated some parallelism between cardiac and skeletal muscle mitochondrial alterations in patients with heart failure and that these alterations begin before the major clinical Framingham criteria are installed, pointing to mitochondria as one of the possibly responsible factors for the evolution of cardiac disease.

[Role of mitochondria and reactive oxygen species in the progression of heart failure]. / Rol de las mitocondrias y de las especie reactivas de oxigeno en la pro-gresion de la insuficiencia cardiaca.

Congestive heart failure (CHF) would be associated with mitochondrial abnormalities and increased of reactive species of oxygen (ROS). To clarify these issues we studied the structure, function of the mitochondrial enzyme nitro oxide synthase inducible (iNOS) and lipoperoxidation of membranes, one of their products through the peroxide nitrite ion (ONOO-), in the heart muscle of patients with heart failure congestive (ICC) grade III and IV (according to New York Heart Association). We included 25 patients who underwent cardiovascular surgery to biopsies of the heart muscle. They were stratified into a group with CHF (n = 18) and control group (n = 7). In di-chas biopsies analyzed the enzymatic activity of mitochondrial complex III spectrophotometrically, which was measured in mM.ubiquinona-1.mg prot, while the mitochondrial morphology was analyzed by the Zeiss electron microscope, the areas were quantified with program Axionvision 4.6. Lipoperoxidation of membranes was measured by the presence of ONOO-by immunohistochemistry against primary antibody against 3-nitrotyrosine was used lab kit system biogenic steptobidin biotin peroxidase (SBA) and coloring triamiobencidina (TAB), it is made with semicuantificacion intensity SCORE test. The statistical test used was ANOVA. The heart muscle of patients with CHF showed that the mitochondrial area was reduced by 78% compared with the control (160.37 µm2 ± 9.87) (936.81 µm2 ± 78.48) p 0.0001. There was also a 70% reduction in complex III activity compared to control (1.9 10-2 mM ubiq.mim-prot 1.mg ± 12.6) (5.79 10-2mM ubiq.mim prot-1.mg ± 36.6) p . The presence of ONOO-was significantly increased in patients with CHF. Alterations ultraestructutural and functional mitochondria found in patients with CHF and increased ROS are involved in the measures of physiopathology CCI and whites should be taken into account for future therapies of this condition.

Using polymerase chain reaction in early diagnosis of re-activated Trypanosoma cruzi infection after heart transplantation.

BACKGROUND: Heart transplantation is an effective treatment for patients with end-stage Chagas' heart disease. Re-activation of Chagas' disease in transplant recipients is frequent, triggered by immunosuppression level. Therefore, highly sensitive methods for early diagnosis of Chagas' disease relapse are necessary to initiate appropriate therapy. We analyzed the use of polymerase chain reaction (PCR) in the clinical follow-up of heart transplant recipients. METHODS: We prospectively evaluated 4 heart transplant recipients at the Hospital Privado, Cordoba, Argentina, who had terminal Chagas' disease. The parameters analyzed were presence of parasites in the blood (blood culture, Strout) and in endomyocardial biopsy (EMB) samples, and PCR was performed with oligonucleotides directed to a nuclear repetitive sequence of Trypanosoma cruzi. We evaluated these parameters weekly from the day of transplantation until results were negative and then during regular follow-up visits. RESULTS: In 2 patients, we detected T cruzi using PCR in peripheral blood 30 days before clinical evidence of re-activation. In the 3rd case, PCR results in peripheral blood were positive from the day before transplantation, followed by positive results in EMB and sub-cutaneous chagomas biopsy specimens. Only 1 patient had positive Strout results for parasites in skin lesions, and none showed amastigotes in the biopsy specimens. After clinical diagnosis, all patients received 5 mg/kg/day benzimidazole for 6 months, with acceptable tolerance and good clinical outcome. All patients had negative peripheral blood PRC results after 30 days of treatment. One patient had intermittent positive PCR results during follow-up, with no evidence of clinical re-activation. CONCLUSION: Polymerase chain reaction detection of T Cruzi in heart transplant recipients is a more sensitive and specific procedure in diagnosing Chagas' disease re-activation.

Cardiovascular findings, and clinical course, in patients with Williams syndrome.

AIMS: We investigated the incidence and outcome of cardiac malformations in 53 patients with Williams syndrome. METHODS AND RESULTS: The mean age, and period of follow-up, were 3.6 and 5.3 years, with standard deviations of 4.0 and 5.6 years, respectively. Of the patients, 45 (85%) had cardiovascular anomalies, often combined. Males presented earlier than females, at the ages of 2.1 years, with standard deviation of 2.8 years, as opposed to 4.5 years, with standard deviation of 4.2 years (p < 0.01). Supravalvar aortic stenosis occurred in 32 patients (71%), pulmonary arterial stenosis in 17 (38%), and mitral valvar prolapse in 12 (27%), 9 of these having regurgitant valves. Pulmonary valvar stenosis, ventricular septal defect, coarctation of the aorta, persistent patency of the arterial duct, hypertrophic cardiomyopathy, and subaortic stenosis all occurred less frequently. In 21 patients (47%), 24 surgical or catheter interventions had been made, most often for repair of supravalvar aortic stenosis, undertaken on 16 occasions with just one recurrence, and in 4 along with surgery to the mitral valve. Other lesions requiring intervention were pulmonary valvar stenosis, pulmonary arterial stenosis, coarctation of the aorta, and subaortic stenosis. We lost 3 patients (7%), with severe supravalvar aortic stenosis and moderate or severe mitral regurgitation, 2 early and one late after surgery. CONCLUSION: The most frequent cardiovascular anomalies in Williams syndrome were supravalvar aortic stenosis, pulmonary arterial stenosis, and mitral valvar prolapse, which occurred more frequently in our patients than previously observed. Patients with left ventricular pressure and volume overload were at greater risk.

Protocolo de asistencia circulatoria mecánica: balon de contrapulsión aórtico / Protocol of circulatory mechanics assistance: aortic ballon contrapulsation

RESUMEN: El tratamiento del síndrome de bajo gasto cardíaco, mantiene elevados porcentajes de mortalidad a pesar de los importantes avances en el tratamiento farmacológico. Por ello, se han realizado grandes esfuerzos para mejorar la función ventricular izquierda y el aporte miócardico de oxígeno. Durante años se han ideado y experimentado diversos sistemas de asistencia circulatoria, como dispositivos capaces de sustituir o mejorar la función cardíaca. Estos son; la bomba de circulación extracorpórea, ventriculos artificiales y otros que modifican la dinámica cardíaca como el balón de contrapulsión intra-aórtico. Se revisa la fisiología, hemodinamia, usos manejos y complicaciones en el contexto clínico, así como guía básica para la correcta utilización del balón de contrapulsación.

Protocolo de asistencia circulatoria mecánica: balon de contrapulsión aórtico / Protocol of circulatory mechanics assistance: aortic ballon contrapulsation

RESUMEN: El tratamiento del síndrome de bajo gasto cardíaco, mantiene elevados porcentajes de mortalidad a pesar de los importantes avances en el tratamiento farmacológico. Por ello, se han realizado grandes esfuerzos para mejorar la función ventricular izquierda y el aporte miócardico de oxígeno. Durante años se han ideado y experimentado diversos sistemas de asistencia circulatoria, como dispositivos capaces de sustituir o mejorar la función cardíaca. Estos son; la bomba de circulación extracorpórea, ventriculos artificiales y otros que modifican la dinámica cardíaca como el balón de contrapulsión intra-aórtico. Se revisa la fisiología, hemodinamia, usos manejos y complicaciones en el contexto clínico, así como guía básica para la correcta utilización del balón de contrapulsación.(AU)

Transplante pulmonar experimental / Unilateral lung transplant experimental

Se realizaron 21 transplantes pulmonares unilaterales en perros, divididos en tres grupos: 1) autotransplante sin sobrevida, 2) autotransplante y 3) homotransplante. Se anastomosaron la arteria pulmonar, una porción de pared de aurícula izquierda con las venas pulmonares y el bronquio, cuya sutura fue cubierta con epiplón en 4 animales, con grasa pericárdica en 2 y no fue cubierta en 3. Los hallasgos post-operatorios se corresponden en general con los mencionados en la literatura. No se observó relación entre la cicatrización de la sutura bronquial y el uso o tipo de cobertura utilizada para la misma

Transplante pulmonar experimental / Unilateral lung transplant experimental

Se realizaron 21 transplantes pulmonares unilaterales en perros, divididos en tres grupos: 1) autotransplante sin sobrevida, 2) autotransplante y 3) homotransplante. Se anastomosaron la arteria pulmonar, una porción de pared de aurícula izquierda con las venas pulmonares y el bronquio, cuya sutura fue cubierta con epiplón en 4 animales, con grasa pericárdica en 2 y no fue cubierta en 3. Los hallasgos post-operatorios se corresponden en general con los mencionados en la literatura. No se observó relación entre la cicatrización de la sutura bronquial y el uso o tipo de cobertura utilizada para la misma