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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Interventional cardiac procedures for patients with congenital heart disease, developed for the pediatric patient, have been adapted for the adult patient. In this review these unique procedures are reviewed with emphasis on the experience at The Toronto Congenital Cardiac Centre for Adults. Procedures directed to closing shunts include: occlusion of patent ductus arteriosus, coil embolization of aorto-systemic collaterals, coronary fistulas, and Blalock-Taussig shunts, and early attempts at nonsurgical occlusion of atrial septal defects. Balloon dilation procedures include management of pulmonary valve stenosis, peripheral pulmonary artery stenosis, and more recently the application of stents in dilation of coarctation of the aorta. Development of interventional techniques for adult congenital heart disease involves a diverse number of procedures which provide successful nonsurgical options for many patients with congenital heart disease.
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PMID:Interventional cardiology for the adult patient with congenital heart disease: the Toronto Hospital experience. 919 88

Carcinoid heart disease occurs in approximately half of patients who have carcinoid syndrome and is the leading cause of death among these patients. It is typically manifest as right-sided valvular lesions, usually tricuspid insufficiency and pulmonary valve stenosis. This case report describes the unusual presentation of a patient with carcinoid heart disease and a large right-to-left shunt through a patent foramen ovale.
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PMID:Carcinoid heart disease with severe hypoxia due to interatrial shunt through patent foramen ovale. 920 88

In this study, 116 neonates (58M, 58F), aged 12h to 14d, with heart murmurs were examined by echocardiography: 26 were preterm and 90 full-term neonates. The clinical diagnosis was classified into definite heart disease, possible heart disease and innocent murmur. The final diagnosis was based on echocardiography and, in some cases, cardiac catheterization or surgery. The results showed that 97 (84%) neonates had heart diseases; 19 (16%) had a normal heart, including 7 with tricuspid regurgitation and 9 with physiological peripheral pulmonic stenosis. Out of 88 neonates with clinically definite heart disease, the final diagnosis was changed to normal heart in 9 (10%) cases and the lesion-specific diagnosis was changed in 9 (10%) neonates. In four cases, the clinical diagnosis of ventricular septal defect or pulmonary stenosis was changed to double-outlet right ventricle, single ventricle, hypoplastic left heart syndrome or tetralogy of Fallot. The clinical diagnosis was correct in 77-85% for varying simple lesions. In 5 of 21 neonates with clinically possible heart disease, the diagnosis was changed to normal heart. In one of six neonates with clinically innocent murmurs, the diagnosis was changed to small muscular ventricular septal defect. We concluded that 84% of heart murmurs in neonates were due to heart diseases and only 16% were innocent murmurs. Although clinical evaluation could determine the presence or absence of heart disease in most neonates, the lesion-specific diagnosis was not quite satisfactory. Echocardiography is necessary for neonates with a clinically diagnosed heart disease or possible heart diseases, and may be unnecessary for those with innocent murmurs diagnosed by paediatricians.
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PMID:Clinical and echocardiographic evaluation of neonates with heart murmurs. 924 Aug 85

Pulmonary valve stenosis is the most frequent congenital heart disease associated with Leopard syndrome, an inheritable condition with a low incidence that we should be aware of and diagnose early. We describe the evolution of a patient with Leopard Syndrome and pulmonary subvalvular stenosis, from birth to the surgical treatment.
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PMID:[Leopard syndrome and pulmonary subvalvular stenosis]. 930 70

The efficacy of catheter intervention for adult congenital heart diseases was evaluated in 27 patients aged 20 to 52 years (mean age at catheterization 25 +/- 7 years) from 1986 to 1996. Four patients had pulmonary valve stenosis, four had aortic valve stenosis, three had coarctation of the aorta, 10 had pulmonary artery stenosis, four had cyanotic heart diseases and aorto-pulmonary collateral arteries, one had patent ductus arteriosus, and one had cyanotic heart disease and stenotic Blalock-Taussig shunt. Balloon dilation was successful in all patients with pulmonary valve stenosis, and follow-up evaluation (1-8 years) showed no restenosis in any patients. Balloon dilation was successful in all patients with aortic valve stenosis, and follow-up evaluation (0.5-5 years) showed transvalvular pressure gradient < 50 mmHg. Stenosis was relieved successfully in all patients with coarctation of the aorta, and follow-up evaluation showed no restenosis. Balloon dilation was successful in eight of 13 locations (62%) in patients with pulmonary artery stenosis. Coil embolization was successful in all patients with cyanotic heart diseases and aortopulmonary collateral arteries. In a patient with patent ductus arteriosus, two coils were placed in the ductus arteriosus but were retrieved because hemolysis was observed after the embolization. These data indicate that catheter intervention in young adults with congenital heart diseases is as effective as in children.
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PMID:[Catheter intervention for adult congenital heart diseases]. 966 90

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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PMID:Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. 1044 61

Echo and Doppler echocardiographic procedures have gained special importance in the diagnostics of congenital diseases in adults. These procedures permit detailed visualization of the pathomorphology of the heart as well as reliable evaluation of the hemodynamic changes. There are differentiated indications for the various procedures, such as transthoracic and transesophageal echocardiography, Doppler and color-Doppler echocardiography, contrast echocardiography and 3-dimensional echocardiography. This article discusses the opposition of the various echo and Doppler echocardiographic procedures with respect to the diagnostics of the most frequent non-operated congenital diseases in adults. The pathomorphology of the various congenital diseases will be summarized and then the important echocardiographic criteria presented which are decisive for the diagnostic procedure. In simple congenital malformation of cardiac valves, such as bicuspid aortic valve (Figure 1: aortic ring abscess), pulmonary valve stenosis (Figure 2), Ebstein's anomaly (Figure 3) or malformations of the mitral valve (Figure 4: cleft in the anterior mitral cusp), the diagnosis can often be made using transthoracic echo and Doppler echocardiography, and the severity of the defect determined. However, the sonographic conditions, especially in adults, are frequently too limited to permit recognition of detailed smaller changes, so that transesophageal examination is required to finally confirm the diagnosis in these patients. In the diagnostics of diseases of the left ventricular outflow tract and the thoracic aorta, such as subvalvular aortic valve stenosis (Figure 5), the sinus of Valsalva aneurysm or the coarctation of the aorta (Figure 6), the left ventricular outflow tract can be evaluated morphologically from a transthoracic procedure and the accelerations of flow can be recorded by continuous wave Doppler. If there is no sclerosis of the fibrous membrane, these can often not be depicted by transthoracic procedures, so that a supplementary transesophageal examination is meaningful. This is required in any case for diseases of the descending thoracic aorta. In the case of congenital lesions, such as atrial septal defects (Figure 7: anomalous pulmonary venous return, Figure 8: 3-dimensional visualization of an atrial septal defect, Figure 9: sinus venosus defect), ventricular septal defect or a patent ductus arteriosus Botalli (Figure 10), color-Doppler and contrast echocardiography have become especially important. Transesophageal examination is also indicated for these congenital diseases for direct depiction of the defect as well as for precise evaluation of the shunt. Moreover, in atrial septal defects, it has been shown that a 3-dimensional echocardiography provides additional advantage with respect to spatial relationship of the defect to the other cardiac structures, as well as presenting dynamic changes during a heart cycle. Extensive knowledge of complex congenital heart disease, such as tetralogy of Fallot (Figure 11), complete transposition of the great arteries, congenitally corrected transposition of the great arteries (Figure 12), the double-outlet right ventricle, truncus arteriosus communis, the cor triatriatum, tricuspid atresia (Figure 13) or the univentricular heart (Figure 14) usually requires performance of a transthoracic echo- and Doppler echocardiographic examination to assess the pathomorphological changes and to examine hemodynamics. In the majority of patients, supplementary transesophageal echocardiography and an echo contrast examination are important. Initial examinations using 3-dimensional echocardiography are very promising in this connection and with respect to the exact spatial presentation of pathoanatomical structures.
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PMID:[Echocardiographic evaluation in unoperated congenital heart disease in adults]. 1044 7

E-type prostaglandins (PGE1) can effectively maintain the patency of the ductus arteriosus in neonates. Its use, therefore can be life saving in infants born with ductus dependent congenital heart disease. Although PGE1 is available for over two decades in western world, it has been introduced in India only since April, 1995. Various cardiac defects where PGE1 is useful include (a) lesions with ductus dependent pulmonary blood flow e.g. pulmonary atresia with or without ventricular septal defect, critical valvular pulmonic stenosis etc, (b) lesions with ductus dependent systemic blood flow e.g. critical aortic stenosis, coarctation of aorta, interruption of aortic arch etc, and (c) admixture lesions like transposition of great arteries. The drug is given as a continuous intravenous infusion. The initial dose is 0.05 to 0.4 ug/kg/min, infusion rate must be decreased to 0.01 ug/kg/min as soon as the desired effect is achieved as incidence of side effects is more at higher doses. Serious side effects include apnoea, hypotension, hyperthermia, seizures etc. We have used this drug in 43 infants ranging in age from one to forty five days. Beneficial response was seen in 41 of 43 infants and the major side effect was apnoea (seen in 5 of 32 spontaneously breathing infants). Unfortunately the high cost of the drug prohibits its wide spread and long term use. PGE1 is a life saving drug for infants born with ductus dependent congenital cardiac malformations. It helps in stabilizing these patients prior to further surgical palliation or correction.
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PMID:Prostaglandin E1: first stage palliation in neonates with congenital cardiac defects. 1077 66

Tricuspid atresia (TA) is a common form of congenital heart disease, accounting for 1-3% of congenital cardiac disorders. TA is characterized by the congenital agenesis of the tricuspid valve connecting the right atrium to the right ventricle and both an atrial septal defect (ASD) and a ventricular septal defect (VSD). Some patients also have pulmonic stenosis, persistence of a left-sided superior vena cava or transposition of the great arteries. Most cases of TA are sporadic, but familial occurrences with disease in multiple siblings have been reported. Gata4 is a zinc-finger transcription factor with a role in early cardiac development. Gata4-deficient mice fail to form a ventral heart tube and die of circulatory failure at embryonic day (E) 8.5 (refs 6,7). Zfpm2 (also known as Fog-2) is a multi-zinc-finger protein that is co-expressed with Gata4 in the developing heart beginning at E8.5 (refs 8-10). Zfpm2 interacts specifically with the N-terminal zinc finger of Gata4 and represses Gata4-dependent transcription. Here we use targeted mutagenesis to explore the role of Zfpm2 in normal cardiac development. Zfpm2-deficient mice died of congestive heart failure at E13 with a syndrome of tricuspid atresia that includes an absent tricuspid valve, a large ASD, a VSD, an elongated left ventricular outflow tract, rightward displacement of the aortic valve and pulmonic stenosis. These mice also display hypoplasia of the compact zone of the left ventricle. Our findings indicate the importance of Zfpm2 in the normal looping and septation of the heart and suggest a genetic basis for the syndrome of tricuspid atresia.
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PMID:A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. 1088 89

A case of two: 21 years and 39 years old male patients with congenital heart disease: Single Ventricle with pulmonary valve stenosis and L-malposition of the great vessels. In the first case the diagnosis of congenital pulmonic stenosis & tricuspid regurgitation was established after birth and during the previous period. In the second case the diagnosis of VSD was established during the recruiting checkup, when he was 18 years old. Detailed non-invasive cardiologic examination was performed (transthoracic & transoesophageal echocardiography) and the diagnosis of Single Ventricle with pulmonary valve stenosis & L-malposition of the great vessels: Double-Inlet Left Ventricle with severe symptoms (21 years old & supraventricular paroxysmal tachycardia) with middle symptoms (39 years old) were established in both cases.
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PMID:[Congenital heart defects: single ventricle with pulmonary valve stenosis and malposition of the great blood vessels]. 1093 36


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