The patient was a 4-month-old infant, who underwent persistent ductus arteriosus interruption with titanium clips at the age of 13 days and, since the age of 2 months, had crises of hypoxia and hypertonicity. After clinical investigation, the presence of pulmonary hypertension was confirmed and left ventricular inflow tract obstruction was suspected. The patient underwent surgical treatment at the age of 4 months, during which right and left ventricular endocardial fibrosis was identified. The fibrosis was resected, but the infant had an unfavorable clinical evolution with significant diastolic restriction and died on the sixth postoperative day. Anatomicopathological and surgical findings suggested endomyocardial fibrosis, although that pathology is very rare at the patient's age.

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.

We report the case of an 8-month-old female infant with Uhl's anomaly, who underwent successful cardiac transplantation. The clinical findings, complementary laboratory tests, anatomic findings, and differential diagnosis of the anomaly are discussed.

OBJECTIVE: To assess intermediate-term outcome in children who have undergone orthotopic heart transplantation. METHODS: We carried out a longitudinal and prospective study between October '92 and June '99 comprising 20 patients with ages ranging from 12 days to 7 years (mean of 2.8 years). We employed a double immunosuppression protocol with cyclosporine and azathioprine and induction therapy with polyclonal antithymocyte serum. Survival and complications resulting from the immunosuppression protocol were analyzed. RESULTS:<FONT FACE=Symbol></FONT>The double immunosuppression protocol and the induction therapy with polyclonal antithymocyte serum resulted in an actuarial survival curve of 90% and 78.2% at 1 and 6 years, respectively, with a mean follow-up period of 3.6 years. One patient died due to acute rejection 40 days after transplantation; another patient died 2 years after transplantation due to lymphoproliferative disorder; a third patient died because of primary failure of the graft; and a fourth patient died due to bronchopneumonia. The major complications were as follows: acute rejection, infection, nephrotoxicity, and systemic hypertension. The means of rejection and infection episodes per patient were 2.9 and 3.4, respectively. After one year of transplantation, a slight reduction in the creatinine clearance and systemic hypertension were observed in 7 (38.9%) patients. CONCLUSION: Heart transplantation made life possible for those patients with complex congenital heart diseases and cardiomyopathies in refractory congestive heart failure constituting a therapeutical option for this group of patients in the terminal phase.

OBJECTIVE - To assess neonates with aortic stenosis with early decompensation operated upon. (LCO) (CHF). METHODS - A and retrospective study analyzing 6 neonates with LCO, group I (GI), and 12 neonates with CHF, group II (GII). Clinical radiographic, electrocardiographic and echocardiographic findings also provided comparative bases for the study, as did surgical and evolutional findings. RESULTS - The mean ages at hospitalization and surgery (p = 0.0031) were 14.3 and 14.8 days in GI and 35.4 and 42.8 days in GII, respectively. Cardiac murmurs were more intense in GII (p = 0.0220). The aortic ring was smaller in GI (8.0 ± 2.5mm) as compared to GII (11.4±1.4mm) (p = 0.2882). Ventricular function was reduced to 18±5.5% and 33.3±7.6% in GI and GII, respectively (p = 0.0162). Aortic atresia, however, was present only in 2 neonates in GI. Five of 6 patients in GI died but all patients in GII survived (p=0.0007). In the latter group, 84.6% of the patients were in functional class I (FC-I) in the long-term follow-up, with moderate residual lesions in 6 neonates, discrete residual lesions in 4, and reoperation in 2. CONCLUSION - Aortic stenosis is a severe anomaly of the neonate, whose immediate evolution depends on the pre-operative anatomic and functional findings, and the late evolution essentially depends on the anatomic features of the valve.

Ebstein's anomaly with coarctation of the aorta is an extremely unusual condition. In this report, the clinical and surgical features of 3 male patients, aged 7 months, 4 years and 14 years, are discussed. All patients were in situs solitus. The first 2 patients had atrioventricular and ventriculoarterial discordance and progressed to heart failure in the neonatal period. The third had atrioventricular and ventriculoarterial concordance, as well as Wolf-Parkinson-White syndrome, with frequent episodes of paroxysmal tachycardia. The 3 patients underwent surgery for correction of the coarctation of the aorta. The patient with atrioventricular and ventriculoarterial concordance underwent tricuspid valvuloplasty using a DeVega-like technique. In addition, ablation of 2 anomalous pathways (Kent bundle), which were detected by the electrophysiologic study, was also subsequently performed. The 3 patients showed a good postoperative outcome for 2 years, although, in those with discordance, the surgical procedure did not influence the dysplasia of the tricuspid valve, because this valve showed light to moderate dysfunction.

OBJECTIVE: Anomalous origin of the left coronary artery from the right pulmonary artery (AOLCARPA), is a rare entity that is usually associated with other defects. Of the 20 cases of AOLCARPA reported in the literature, 14 (70%) had associations. We describe four patients with AOLCARPA without associated defects, but with a peculiar intramural aortic trajectory. METHODS: Fifty-five patients with anomalous origin of the left coronary artery were operated upon at INCOR-FMUSP. Four of the patients had the anomalous origin from the right pulmonary artery (RPA) without associated defects but with intramural aortic trajectory. Clinical and laboratory examinations were analyzed, as well as surgical findings. RESULTS: All patients had congestive heart failure (CHF) and 3 also had angina pectoris. Two patients had a murmur of mitral regurgitation, signs of myocardial infarction on the ECG and cardiomegaly. The shortening fraction varied from 9% to 23%. The hemodynamic study confirmed the diagnosis of anomalous origin of the coronary artery, but the intramural trajectory and the origin from the RPA were established only at surgery. In 3 patients, the technique of side-to-side anastomosis was performed with a good outcome. One patient, who underwent end-to-side anastomosis, died 6 months after the surgery. CONCLUSION: Association with other defects usually occurs in the AOLCARPA, and the intramural aortic trajectory is difficult to clinically diagnose but easy to surgically correct.

OBJECTIVE: Aortopulmonary window (APW) is an uncommon congenital malformation. Its clinical presentation is dependent on the size of the defect and on the associated lesions. We evaluated our experience with this anomaly and compared it with 296 cases reported in the literature. METHODS: Retrospective study of 18 patients diagnosed as having APW (age range from 13 days to 31 years, 13 (72.2%) females), divided into two groups: Group A (GA): 10 patients with isolated APW, and Group B (GB): 8 patients with associated lesions. RESULTS: Heart failure occurred in 14 patients, and cyanosis in 3: 2 from GB (tetralogy of Fallot - TF, and double outlet right ventricle - DORV), and one from GA with pulmonary hypertension. In 5 patients from GA the diagnosis of mitral regurgitation was made based on a systolic murmur and LV hypertrophy on the EKG. In GB, clinical findings were determined by the associated defect. Diagnosis was established by echocardiography in 11 (61.2%) of the patients. In 3 patients, a wrong diagnosis of mitral regurgitation was made, in 1 a patent ductus arteriosus was diagnosed and in 3 others, the diagnosis of APW was masked by other important associated defects (2 cases of DORV and 1 case of TF). The diagnosis was made by catheterization in 3 (16.6%) patients, by surgery in 3 (16.6%) and by necropsy in 1 (5.5%). Corrective surgery was performed in 14 (77.7%) patients, with one immediate death and good long-term follow-up in the remaining patients. CONCLUSION: APW can be confused with other defects. Clinical findings, associated with an adequate echocardiogram can provide the information for the correct diagnosis.

Ausência de conexão atrioventricular à direita com o ventrículo dominante, morfologicamente direito, colocado à esquerda, em conexão com o átrio esquerdo, é uma rara situação. Os autores apresentam cinco casos com esta disposição morfológica, salientando os aspectos anatômicos e clínicos, bem como a importância da nomenclatura baseada na análise segmentar seqüencial.

Absent right atrioventricular connection, with the left atrium connected to a dominant left-sided morphologically right ventricle is a rare situation. We report five cases with these anatomical features, with emphasis on the morphological and clinical aspects. Although this combination of lesions is very uncommon, the sequential segmental analysis can easily provide an accurate description of the anomaly.

OBJETIVO: Estudar o perfil dos parâmetros hemodinâmicos e a evolução clínica de crianças candidatas a transplante cardíaco, portadoras de cardiomiopatia grave. MÉTODOS: Foram 24 crianças, com idade entre 4 meses e 10 anos e 8 meses (média de 3,7±2,5 anos), no período de fevereiro/92 a maio/96, submetidas a estudo hemodinâmico e medidos os seguintes parâmetros: débito cardíaco, pressão média de artéria pulmonar (PMAP) e pressão capilar pulmonar. Foram calculados o índice de resistência vascular pulmonar (IRVP) e gradiente de pressão transpulmonar (GPT). RESULTADOS: Do ponto de vista evolutivo, 10 (41,6%) crianças foram transplantadas (grupo A), 5 (20,8%) aguardam o transplante (grupo B) e 9 (37,6%) faleceram (grupo C). Observou-se que a média das idades dos pacientes do grupo B foi significativamente menor que do grupo C. Dos dados hemodinâmicos, a PMAP, GTP e IRVP apresentaram médias significativamente menores no grupo A em relação ao grupo C. CONCLUSÃO: O perfil hemodinâmico de crianças candidatas ao transplante cardíaco mostrou-se compatível ao quadro clínico de insuficiência cardíaca grave. A idade foi o único fator que diferenciou o grupo B e C (p= 0,036). O IRVP, PMAP e o GTP foram fatores que diferenciaram de modo significativo o grupo A e o grupo C (p=0,010; p=0,044 e p=0,023, respectivamente). Quanto maior a idade no momento da indicação do transplante na criança, pior foi seu prognóstico.

PURPOSE: To evaluate hemodynamic parameters and clinical outcome of children with severe cardiomyopathy who are candidates for heart transplantation. METHODS: Twenty four children aged from 4 months to 10 years and 8 months (mean 3.7±2.5 years) from February 1992 to May 1996, were submitted to hemodynamic study and the following parameters were measured: cardiac output, mean pulmonary artery pressure (MPAP) and capillary wedge pressure. The pulmonary vascular resistance index (PVRI) and transpulmonary pressure gradient (TGP) were calculated. RESULTS: Ten (41.6%) children were transplanted (group A), 5 (20.8%) are still waiting heart transplantation (group B) and 9 (37.6%) died (group C). The mean age of the B and C group were significantly different. The PVRI, MPAP and TPG were significant lower in group A than group C (p=0.01; p=0.044 and p=0.023 respectively). CONCLUSION: The profile of the hemodynamic parameters of children with severe dilated cardiomyopathy was compatible with the clinical findings. The age was the only difference comparing groups B and C. PVRI, MPAP and TPG were significant factors between group A and C. The older the patient, the worse was the prognosis.

Cinco pacientes com idades entre 3 meses e 11 meses, com diagnóstico clínico, ecocardiográfico e angiográfico de origem anômala da artéria coronária esquerda do tronco pulmonar foram operados no período de 1987 a 1997. Somente durante o ato operatório foi diagnosticado o trajeto intramural aórtico. Em 4 deles uma nova técnica cirúrgica foi utilizada e em 1 deles o reimplante da coronária esquerda foi empregado. Nesta técnica, após o diagnóstico intra-operatório do trajeto intramural, o tronco pulmonar é aberto e a coronária esquerda é explorada com um probe de modo a identificar seu trajeto. A seguir, a aorta é aberta e o segmento intramural da coronária é aberto longitudinalmente. A camada íntima da coronária é suturada à íntima e média da aorta, criando-se uma ampla janela aortocoronária. Por último, a origem da coronária anômala no tronco pulmonar é ligada. Os 4 pacientes operados com esta técnica evoluíram com melhora da classe funcional e da função contrátil ao ecocardiograma. Apresentam-se em classe funcional grau I (NYHA) após um período de seguimento de 7 meses a 10 anos. O único óbito ocorreu no paciente submetido a dissecção da coronária esquerda e reimplante na aorta, que apresentou complicações pós-operatórias, falecendo 6 meses após a alta hospitalar. Nestes casos, a tentativa de separar a coronária da parede aórtica e reimplantar a coronária deve ser evitada. A técnica descrita permite a correção cirúrgica desta anomalia de maneira simples e segura, com bons resultados a longo prazo.

Five patients with anomalous connection of the left coronary artery to the pulmonary artery by an intramural route, whose ages ranged from 3 months to 11 months, were operated from 1987 to 1997. The diagnosis of the intramural aortic route was only made during the operation. In 4 patients a new technique was used. After establishment of the intramural aortic route, the pulmonary trunk was opened and the left coronary artery explored with a probe in order to identify its traject. Then, the aortic wall was opened and the intramural portion of the left coronary artery was opened longitudinally. The intima of the coronary artery was sutured to the intima and media layer of the aortic wall, creating an aortocoronary window. Finally, the origin of the left coronary was ligated. These 4 patients were followed-up from a period of 7 months to 10 years. They present clinical and echocardiographic improvement. All are in functional class I (NYHA), without medication. The only death occured 6 months after the operation. In this patient the intramural portion of the left coronary artery was divided from the aortic wall and the coronary artery reimplanted. There was several postoperative complications and the patient died suddenly 6 months after the operation. In this anomaly, the attempt to separate the left coronary artery from the aortic wall must be avoided. The described technique permits a safe and simple surgical correction of this rare anomaly, with good long-term results.

OBJETIVO: Comparar o grau de repercussão, fatores responsáveis e época de aparecimento dos sintomas do defeito do septo atrioventricular (DSAV), em pacientes com e sem síndrome de Down. MÉTODOS: Foram estudados 80 pacientes com idade <2 anos, sendo 55 (69%) com síndrome de Down - grupo I (GI) e 25 (31%) sem síndrome de Down - grupo II (GII). Avaliaram-se a idade de manifestação dos sintomas, sua intensidade, classe funcional (CF), repercussão clínica, tipo anatômico e grau de malformação da valva atrioventricular (VAV). RESULTADOS: A idade média de manifestação dos sintomas foi de 50 (±75) dias nos dois grupos. A CF II (NYHA) predominou no GI (31 casos - 56,5%) e a CF III-IV no GII (19 - 76%) p<0,005. O quadro de insuficiência cardíaca esteve presente em 34 (62%) pacientes do GI e em 21 (84%) do GII e, o de hipertensão pulmonar em 21 (38%) do GI e em 4 (16%) do GII, p<0,04. Pressão média da artéria pulmonar >50mmHg ocorreu em 56% dos casos do GI em relação a 28% do GII p<0,019. A evolução até a cirurgia foi instável (agravamentos da insuficiência cardíaca) em 33 (60%) do GI e em 21 (84%) do GII p<0,03. O tipo A de Rastelli foi o mais encontrado nos dois grupos, 35 (67%) pacientes no GI e nos 25 (100%) do GII. A alteração anatômica da VAV foi importante em 8% no GI e em 38% no GII. CONCLUSÃO: Há sugestão de predominância de hiper-reatividade vascular pulmonar nas crianças com síndrome de Down e de manifestações de insuficiência cardíaca nas geneticamente normais.

PURPOSE: To compare clinical course, causes and symptoms beginning enset time in children with complete atrioventricular canal with and without Down's syndrome. METHODS: Records of 80 patients <2 years of age, were reviewed. There were 55 (69%) with Down's syndrome - group I (GI) and 25 (31%) without - group II (GII). Age at synpton enset intensity, functional class, clinical repercussion and anatomic variations in patients undergoing corrective surgery were evaluated. RESULTS: Mean age at symptoms onset was similar for the two groups (50 ±75 days). Class II (NYHA) was more frequent in GI (31 patients - 56.5%) and class III-IV (NYHA) in GII (19 patients - 76%) p<0.005. Clinical repercussion evaluation showed that congestive heart failure was present in 34 (62%) patients of GI and 21 (84%) of GII; and, pulmonary hypertension was in 21 (38%) patients of GI and 4 (16%) patients of GII p<0.04. Mean pulmonary arterial pressure of 50mmHg or more was present in 68% of children with Down's syndrome and in 35% of GII. Clinical course until surgical correction was down hill in 33 (60%) from GI and 21 (84%) from GII p<0.03. Seventy seven patients underwent surgical correction. CAVC type A of the Rastelli classification was predominant in both groups, GI 37 (67%) - GII 25 (100%). There or more severe valvar morphologic lesions in group II (38%) than in group I (8%). CONCLUSION: There seems to be a pulmonary vascular hyperreactivity predominance in Down's children and cardiac insufficiency signs in the normal genetic group.