Cases reported "Heart Defects, Congenital"

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1/255. child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.

    We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning difficulties, and right fifth finger anomaly manifestations, consistent with velocardiofacial syndrome (VCFS); however, cytogenetic analysis demonstrated a small terminal deletion of the segment 4q34.2 to 4qter. Fluorescent in situ hybridization did not identify a deletion of the critical region associated with VCFS. In previously reported 4q deletions with a breakpoint distal to 4q34.2, no cardiac defects or cleft of palate were reported. Our patient has a deletion of 4q34.2 to 4qter and has palate and cardiac involvement and minor learning difficulties, which implies that genes involved in heart and palate development lie distal to 4q34.2, and that the critical region for more severe mental retardation on 4q may reside proximal to 4q34.2. These results suggest that a distal 4q deletion can lead to a phenotype similar to VCFS and emphasizes the importance of searching for other karyotype abnormalities when a VCFS-like phenotype is present and a 22q deletion is not identified.
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keywords = stenosis
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2/255. Successful correction of double-outlet right ventricle with a ventricular D-l-malposition of the great arteries, bilateral conus, pulmonary stenosis and subaortic ventricular septal defect.

    The authors present the case of a fifteen-year old girl with double outlet right ventricle with ventricular d-loop and l-malposition of the great arteries, bilateral conus, pulmonary stenosis and subaortic ventricular septal defect, who was operated on successfully. This is the fourth case of double outlet right ventricle with l-position of the aorta that has been surgically corrected. The subaortic position of the interventricular defect favours the creation of the tunnel connecting the left ventricle with the aorta without obstructing the right ventricular outflow tract. The patient was doing well 11 months postoperatively.
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ranking = 5
keywords = stenosis
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3/255. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.

    A male patient with aphallia, anal stenosis, tetralogy of fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.
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ranking = 1
keywords = stenosis
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4/255. Damus-Kaye-Stansel connections in children with previously transected pulmonary arteries.

    BACKGROUND: In patients with a univentricular arteriovenous connection, transection of the main pulmonary artery may be performed as part of a bidirectional cavopulmonary shunt or fontan procedure. The proximal stump of the pulmonary artery may remain in the systemic circulation. In cases with a discordant ventriculoarterial connection, subsequent restriction of the bulboventricular foramen may lead to subaortic stenosis. The subaortic stenosis can be corrected in some patients by directing the systemic flow through a combined nonobstructed aortopulmonary outlet, as in the Damus-Kaye-Stansel connection. Previous closure of the pulmonary artery has been considered by some investigators to be a relative contraindication to the Damus-Kaye-Stansel procedure, unless an allograft root can be added to the circuit after excision of the closed pulmonary stump. methods: Three patients with previously transected pulmonary arteries underwent a modified Damus-Kaye-Stansel connection using the native pulmonary valve and the proximal pulmonary artery stump. RESULTS: The native pulmonary valves have functioned well despite thrombus formation in the proximal stump in 2 patients before Damus conversion. All 3 patients are alive and well after 108, 19, and 3 months, with competent nonobstructed ventriculoarterial connections. CONCLUSIONS: If transection and closure of the pulmonary artery as part of a previous palliation has spared the pulmonary valve, then the native pulmonary outlet might be used for a safe Damus-Kaye-Stansel connection.
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ranking = 2
keywords = stenosis
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5/255. Jagged1 mutations in patients ascertained with isolated congenital heart defects.

    Mutations in Jagged1 cause alagille syndrome (AGS), a pleiotropic disorder with involvement of the liver, heart, skeleton, eyes, and facial structures. Cardiac defects are seen in more than 95% of AGS patients. Most commonly these are right-sided defects ranging from mild peripheral pulmonic stenosis to severe forms of tetralogy of fallot. AGS demonstrates highly variable expressivity with respect to all of the involved systems. This leads us to hypothesize that defects in Jagged1 can be found in patients with presumably isolated heart defects, such as tetralogy of fallot or pulmonic stenosis. Two patients with heart defects of the type seen in AGS and their relatives were investigated for alterations in the Jagged1 gene. Jagged1 was screened by a combination of cytogenetic and molecular techniques. Patient 1 was studied because of a four-generation history of pulmonic stenosis. Molecular analysis showed a point mutation in Jagged1 in the patient and her mother. Patient 2 was investigated owing to the finding of tetralogy of fallot and a "butterfly" vertebra on chest radiograph first noted at age 5 years. She was found to have a deletion of chromosome region 20p12 that encompassed the entire Jagged1 gene. The identification of these two patients suggests that other patients with right-sided heart defects may have subtle findings of AGS and Jagged1 mutations.
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ranking = 3
keywords = stenosis
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6/255. Coarctation of the left pulmonary artery associated with congenitally corrected transposition.

    We describe an infant with congenitally corrected transposition, ventricular septal defect and severe pulmonary stenosis. The heart occupied a midline position. Extension of ductal tissue had resulted in occlusion of the left pulmonary artery. As far as we are aware, this is the first report of an association of coarctation of the left pulmonary artery with corrected transposition.
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ranking = 1
keywords = stenosis
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7/255. Percutaneous translumbar cardiac catheterization and central venous line insertion: an alternative approach in children with congenital heart disease.

    Children with congenital heart disease present major problems with venous access, eliminating conventional routes for cardiac catheterization. Although the transhepatic approach has recently gained popularity, we describe here an alternative approach using percutaneous translumbar approach for cardiac catheterization and/or in-dwelling central line insertion in three children with congenital heart disease. Diagnostic hemodynamic studies, transcatheter delivery of an intravascular stent for left pulmonary artery (LPA) stenosis, and chronic central venous line insertion were performed using this technique. Disadvantages include interventionalist's unfamiliarity with technique, awkward patient positioning, technically more difficult than transhepatic, and potential injury to kidney and bowel. Advantages include avoidance of vascular-rich hepatic parenchyma, thus reducing risk of hemorrhage; providing an alternative where transhepatic entry may be contraindicated; avoidance of bile duct, portal vein, and hepatic artery injury; and providing another alternative for not only transvenous, but also transarterial access that may be required for intravascular aortic stent delivery. The interventional radiologist should be utilized as a valuable resource to the cardiologist to help teach and supervise this technique in selected infants and children with limited vascular access.
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ranking = 1
keywords = stenosis
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8/255. Reconstruction of the mitral and aortic annuli for advanced management of the Shone complex.

    Shone's complex is a congenital cardiac abnormality which consists of surpravalvular mitral ring, parachute mitral valve, subaortic stenosis and aortic coarctation. Initial operative management has traditionally proven difficult, with multiple procedures often necessary to control symptoms. Advanced management had required a careful, individual approach based on both clinical and anatomic patient presentation. We present the first patient in whom mitral and aortic annular reconstruction with bovine pericardial gussets was successful in managing the late sequelae of Shone complex.
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ranking = 1
keywords = stenosis
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9/255. Stent implantation to create interatrial communications in patients with complex congenital heart disease.

    A restrictive interatrial communication can complicate the management of complex congenital heart disease. The purpose of this report is to present a new technique to achieve a patent and reliable interatrial communication by using an endovascular stent. A stent was successfully implanted across a fenestrated extracardiac conduit in two patients with low cardiac output after Fontan operations and across the interatrial septum in a patient with double inlet left ventricle and severe left atrioventricular stenosis. The procedures were uncomplicated and all patients showed immediate hemodynamic improvement. Cathet. Cardiovasc. Intervent. 47:310-313, 1999.
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ranking = 1
keywords = stenosis
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10/255. Fate of atrial flap used in repair of total anomalous pulmonary venous connection.

    Histological changes in the right atrial flap used in repair of total anomalous pulmonary venous connection were observed when the patient underwent repair of peripheral pulmonary venous stenosis after two months. The flap, 35 mm in length and 15 mm in width, was thin and soft. Microscopically, endocardium and myocardium were preserved well, with only moderate thickening of the epicardium. We can anticipate the viability of the right atrial flap, but care should be taken to keep blood supply to the flap intact.
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ranking = 1
keywords = stenosis
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