[ evaluation of late outcome of balloon pulmonary valvuloplasty in children]

Isolated pulmonary valve stenosis represents 8-10% of congenital cardiac anomalies. This study was performed to evaluate the late outcomes of Balloon Pulmonary Valvuloplasty [BPV] in children with residual infundibular stenosis. Seventy-eight patients underwent BPV in Rajaee Heart Center in Tehran Iran, from 2008-2010. The patients were divided into two groups: with and without infundibular stenosis. The group with infundibular stenosis was subdivided into two groups: with and without propranolol administration. Gradient measurement follow-ups by Doppler echocardiography were done on the first day and 1, 3, 6 and 12 months afterwards. Thirty five [44.9%] patients were male and 43 [55.1%] were female. The mean age of participants was 4.29 +/- 3.5 years and the mean weight 16.18 +/- 8.8 kg 33 patients [43%] did not show residual infundibular stenosis but 45 [57%] did so in the evaluations. There were no significant differences between the two groups regarding age, weight, sex, kind of balloon valvuplasty, balloon to body surface area ratio and pulmonary regurgitation [PR]. Propranolol was administered to 27 [60%] patients with residual stenosis for six months but 18 [40%] did not receive the medication. In both groups, the gradient significantly decreased immediately after BPV [P<0.0001]. In the propranolol group a constant decrease in residual gradient was seen. There was a significant relationship between balloon to body surface area ratio [387 +/- 94mm2/m[2]] with moderate to severe PR [P<0.015]. BPV is a safe and effective procedure to treat PS. Residual infundibular gradient after BPV decreases over time and propranolol helps decrease the gradient

Microdeletion study in children with selective congenital heart disease; an Iranian multicenter study

Determining the frequency of chromosome 22q11.2 microdeletion in children with congenital cardiac conotruncal abnormalities using Fluorescence in-situ Hybridization [FISH] technique and estimating relation between DiGeorge Syndrome and cardiac conotruncal abnormalities. One-hundred and eighty cases [106 Males, 74 Females] with selective congenital heart disease [conotruncal abnormalities] referred to the hospitals affiliated to Tehran University during 2004-2007 were evaluated by pediatric cardiologists. All patients were assessed for chromosome 22q11.2 microdeletion using FISH technique. Consequently, patients with 22q microdeletion were studied for T cell abnormalities. Median age of the patients at the time of study was 18 months [3d-16y]. The microdeletion of chromosome 22q11.2 was detected in 17 [9.5%] patients with conotruncal abnormalities, including 5 [29.4%] Tetralogy of Fallot plus Supravalvular Pulmonary Stenosis, 4 [23%] Truncus Arteriosus, 5 [29.4%] Pulmonary Artesia with Ventricular Septal Defect, 2 [11.8%] CO AO+Intrrupted Aortic Arch and one case of Valvular Pulmonary Stenosis. Five of uncorrelated cases had crananiofacial dysmorphism. Chromosome 22q11.2 microdeletion FISH study should be considered in patients with cardiac lesions particularly conotruncal abnormality with or without syndromic problems [craniofacial dysmorphism and developmental delay] to provide an appropriate genetic counseling with more accurate estimation of recurrence risk and ultimately prenatal diagnosis in affected families

Holt-Oram syndrome with double outlet right ventricle with valvular and subvalvular pulmonary stenosis

The Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal abnormalities that are frequently accompanied by congenital cardiac defects, most commonly an atrial septal defect. We report a rare case of sporadic Holt-Oram syndrome with double outlet right ventricle [DORV], valvular and subvalvular pulmonary stenosis, persistent left superior vena cava draining to the left atrium, and an ectopic right kidney

[Double chamber right ventricle: about 3 cases]

The double chambered right ventricle is a rare congenital abnormality. It creates an obstacle for the right ventricular ejection. The cardiac ultrasonography examination allows the diagnosis in most majority of cases. The angiography is performed in difficult cases. We report 3 cases of infundibular stenosis with normal interventricular septum. The diagnosis was suspected for the 3 cases by the constellation of clinical findings pointing to systolic murmur over the precordium. and the electrocardiography showing right ventricular hypertrophy. It is confirmed by the echocardiogram and the hemodynamic exploration with a trans stenotic gradient evaluated at 72,80 and 80 mmHg. The 3 patients underwent surgery and had all good post operative follow up. These 3 observations allow us to recall the epidemiological. embryological. clinical and echocardiographic particularities of pure infundibular stenosis and to determin the adequate treatment and the prognosis

Giant pulmonary artery aneurysm with right ventricular outflow tract obstruction.

Aneurysm of the main pulmonary artery is rare. Its natural history is not well understood and there are no clear guidelines regarding its optimal treatment. We present a case of a huge saccular aneurysm of the main pulmonary artery which was associated with infundibular and valvular pulmonary stenosis. It was repaired using a pericardial patch with concomitant pulmonary valvotomy and infundibular resection. Postoperative recovery was uneventful and the patient is doing well. Follow-up echocardiogram revealed good repair.

Corrective Surgery of Congenital Cardiac Anomalies in the Noonan syndrome: Report of two cases / 대한흉부외과학회지

Noonan syndrome is characterized by a Turner-like phenotype and a normal karyotype associated with congenital abnormalities, such as short stature, variable mental retardation, hypertelorism, webbed neck, low posterior hair line, skeletal malformation and congenital cardiovascular defect. Two third of Noonan syndrome have cardiac anormalies, half with pulmonary stenosis. We have experienced two cases of pulmonary stenosis associated with other cardiac anomalies in Noonan syndrome. The first 31-year-old male patient had characteristic appearance of Noonan syndrome with severe infundibular pulmonic stenosis and patent foramen ovale. The second 28-year-old male patient had valvular and subvalvular pulmonary stenosis with typical Noonan's face and stature. Pulmonary valvotomy and hypertrophied muscle bundles in the right ventricular cavity were resected in both cases. Patent foramen ovale was closed directly in the first case. Postoperative follow-up examinations revealed no symptoms and successful outcome.

O acometimento isquêmico obstrutivo na cardiomiopatia hipertrófica do tipo septal assimétrico com envolvimento da artéria descendente anterior / Obstrutive ischemic involvement of the left anterior descending coronary artery in asymmetrical septal form of hypertrophic cardiomyopathy

OBJETIVO - Avaliar o papel da doença coronária (DAC) com comprometimento da artéria descendente anterior (ADA) na cardiomiopatia hipertrófica (CMH) e sua repercussão na evolução, visto ser controverso o significado da necrose e fibrose do septo interventricular (SIV) nesta cardiomiopatia. MÉTODOS - Entre 158 pacientes com CMH, selecionados 6 (3,79 'por cento') com CMH e DAC com lesão obrigatória de ADA, sendo 4 homens, entre 52 e 70 (x=65,16) anos, 4 com a forma obstrutiva da CMH. O tempo de diagnóstico da CMH foi de 78 a 182 (x=141) meses e da DAC de 1 dia a 106 (x=42) meses. Os pacientes foram acompanhados com avaliaçöes clínicas e exames complementares periódicos. RESULTADOS - A forma de apresentação da DAC foi em 5 com angina instável e um com infarto do miocárdio. A ADA estava comprometida entre 60 a 100 'por cento', sendo em um lesão única e nos 5 restaurantes com lesão em 2 ou mais vasos. Na evolução, 3 foram submetidos a revascularização miocárdica (RM), um associada a miomectomia septal, um a angioplastia e 2 somente a tratamento clínico. No período de observação de 76 a 124 meses após o diagnóstico da DAC, ocorreu um óbito. No fim do estudo observamos redução nos valores médios do SIV de 1,53 para 1,40cm, gradiente de pressão entre o corpo e a via de saída do ventrículo esquerdo (VE) de 56 para 15,75mmHg, com discreto aumento no diâmetro diastólico do VE de 4,55 para 4,85cm e do diâmetro sistólico de 2,83 para 3,13cm, sem alterar a dimensão do átrio esquerdo (4,13cm). CONCLUSÄO - A DAC da ADA é bem tolerada na CMH septal assimétrica, participando do processo fibrótico septal e melhorando o desempenho cardíaco, não representando problema adverso na evolução da CMH

Sindrome de Williams / Williams's syndrome

Os autores apresentam a Sindrome de Williams comentando os aspectos geneticos, os criterios diagnosticos, os achados clinicos, o prognostico e o diagnostico diferencial.

Bourneville's tuberous sclerosis associated with double outlet right ventricle and infundibular pulmonary stenosis.

The cardiac manifestation usually associated with tuberous sclerosis is rhabdomyoma of the heart. We report a rare association with cyanotic congenital heart disease in the form of double outlet right ventricle with infundibular pulmonary stenosis.

Sites of right ventricular outflow tract obstruction in tetralogy of Fallot--a retrospective study.

Fifty one angiographically proved cases of tetralogy of Fallot (TOF) in the age group of 5-50 years were analysed retrospectively for the level(s) of right ventricular outflow tract (RVOT) obstruction. Mean age was 18.1 +/- 11 yrs. Subvalvular stenosis was found to be the commonest site of RVOT obstruction in 49 (96.1%) patients. Evidence of valvular pulmonary stenosis was seen quite commonly (42/51, 83.9% cases), mostly in association with obstruction at other sites. Supravalvular stenosis was also seen in 17 (33.3%) cases. Higher incidence of pulmonary valvular involvement in patients with TOF, in higher average age of patient population may represent valvular involvement to be an acquired phenomenon.

Correlation of Doppler and cardiac catheterization gradients in children with ventricular outflow obstruction

Los gradientes de presión calculados por el método de Eco Doppler en 23 pacientes pediátricos con obstrucción a la salida del ventrículo derecho (13) o del ventrículo izquierdo (10) fueron comparados con los gradientes de presión obtenidos por cateterismo cardíaco. Los gradientes obtenidos por método de Doppler variaron desde 15 a 148mm Hg y de 15 a 143mm Hg por cateterismo. El coeficiente de correlación linear fue excelente,. 94 en las obstrucciones del ventrículo derecho y .95 en las obstruciones del ventrículo izquierdo, tanto en pacientes con lesiones aisladas com en aquellos con defectos congénitos asociados