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

Over the last years, endovascular intervention have become an important part of treatment in patients with congenital heart disease particularly for residual defects after surgery done in infancy. These transcatheter procedures can be described as dilatation of stenotic sites (angioplasty, endovascular stenting and valvuloplasty) or as a closure of anomalous openings (device closure defects and vascular embolisation). Balloon valvuloplasty, without or with stent, is the procedure of choice in adults with pulmonary valve stenosis, pulmonary arteries stenosis, bicuspid aortic valve stenosis without calcification, aortic re-coarctation. Treatment of native aortic coarctation is still under debate. Devices for closing atrial and ventricular septal defects or patent ductus arteriosus have been developed and are now widely used. Transcatheter, plug or coil occlusion is nowadays the goal treatment in a wide range of arterial and venous vascular connections. This review describes the current role of each major catheter-directed therapy in the treatment of congenital heart disease in adults.
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PMID:Endovascular intervention in the treatment of congenital heart disease in adults. 1791 70

Bicuspid aortic valve (BAV) disease is the most common form of congenital heart disease, affecting 1-2% of the population. Only 20% of patients will maintain normal valve function throughout their life and more than 30% of patients will develop serious morbidity. It is a highly heritable condition, with transmission likely to be autosomal dominant. Patients with BAV have a 10-fold risk of aortic dissection when compared to the normal population. Management of BAV associated aortopathy represents a significant clinical challenge.
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PMID:Management of the ascending aorta in patients with bicuspid aortic valve disease. 1851 24

Congenital heart diseases are traditionally considered to be multifactorial in pathogenesis resulting from environmental and genetic interactions that determine penetrance and expressivity within a genetically predisposed family. Recent evidence suggests that genetic contributions have been significantly underestimated. However, single gene defects occur only in a minority of cases, and multigenetic causes of congenital heart diseases have not been fully demonstrated. Here, we show that interactions between alleles of 3 Pbx genes, which encode homeodomain transcription factors, are sufficient to determine the phenotypic presentation of congenital heart diseases in mice. A major role is served by Pbx1, whose inactivation results in persistent truncus arteriosus. Reduction or absence of Pbx2 or Pbx3 leads to Pbx1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves. Disruption of Meis1, which encodes a Pbx DNA-binding partner, results in cardiac anomalies that resemble those caused by Pbx mutations. Each of the observed cardiac defects represents developmental abnormalities affecting distinct stages of cardiac outflow tract development and corresponds to specific types of human congenital heart disease. Thus, varied deficiencies in the Pbx gene family produce a full spectrum of cardiac defects involving the outflow tract, providing a framework for determining multigenetic causes of congenital heart anomalies.
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PMID:Pbx/Meis deficiencies demonstrate multigenetic origins of congenital heart disease. 1872 45

Cardiovascular complications in Turner's syndrome are the most common cause of excess early mortality, with a life expectancy that may be reduced by more than 10 years. Congenital cardiac abnormalities are described in approximately one third of patients. These abnormalities are mostly left heart obstructions, the most common of which are bicuspid aortic valve (16%) and coarctation of the aorta (11%). Dilatations of the ascending aorta are often described and may occur in isolation from any heart disease, suggesting a vasculopathy specific to the syndrome, probably predisposed to by extracardiac risk factors such as oestrogen deficiency, diabetes, dysplidaemia and overweight. The most feared complication is aortic dissection with around a 100 cases, described at average age of approximately 35-years-old. This is believed to complicate 2% of induced pregnancies. Hypertension (HBP) usually essential, affects up to 50% of patients with Turner's syndrome. This is an important risk factor for cardiovascular complications and justifies aggressive treatment. On the other hand, retrospective studies have not demonstrated adverse cardiological effects due to growth hormone treatments. Patients with Turner's syndrome merit regular cardiology follow-up from childhood onwards, particularly if they have treated heart disease. The merits of preventative treatments for aortic dilatation have not been demonstrated in Turner's syndrome and justify prospective trials.
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PMID:Cardiovascular abnormalities in Turner's syndrome: what prevention? 1884 91

Bicuspid aortic valve (BAV) is a common congenital heart disease, and it is well known to be a risk factor for ascending aortic dilatation and dissection. We here report a case of 34-year-old woman who underwent Ross procedure with ascending aortic replacement under the diagnosis of subaortic stenosis and ascending aortic aneurysm. She was pointed out to have heart murmur soon after the birth diagnosed as patent ductus arteriosus. The ductus was ligated when she was 3-years-old, however, heart murmur remained. Further examinations revealed that she also had aortic stenosis with BAV. During her 20-year-follow-up, subaortic stenosis and ascending aorta ectasia were also progressed. Pathological examinations of resected ascending aortic wall showed mucoid degeneration and laceration of collagen fibers, suggesting the fragility of dilated aortic wall with BAV.
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PMID:[Ross procedure with aortic replacement for aortic stenosis with ascending aortic aneurysm: report of a case]. 1893 39

The 22q11.2 deletion syndrome is characterized by a highly variable phenotype including a range of cardiac malformations. The most common cardiovascular features include a subset of conotruncal defects, perimembranous ventricular septal defects and aortic arch anomalies. This report describes a series of patients with 22q11.2 deletion syndrome with the novel cardiac finding of mild aortic root dilation. A chart review was performed on 93 patients with documented 22q11.2 deletion without significant congenital heart disease to determine the number of patients with aortic root dilation. Patients ranged in age from 1 to 13 years of age. Of these 93 patients, 10 patients were found to have aortic root dilation on a screening echocardiogram. Seven of these patients did not have any additional risk factors while three patients had a bicuspid aortic valve (BAV). Four of 10 patients had additional minor cardiac anomalies including repaired ventricular septal defect (1), patent ductus arteriosus(1), arch anomalies (1), and left pulmonary artery stenosis (1). Three patients had isolated cases of aortic root dilation. Interestingly, several of these patients did not have aortic root dilation on their initial echocardiograms. The purpose of this study is to draw attention to a novel cardiac finding in patients with 22q11.2 deletion that may be of clinical importance. Further long-term study is warranted to assess the need for echocardiographic screening in the 22q11.2 deleted population for aortic root dilation into adolescence and adulthood.
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PMID:Aortic root dilation in patients with 22q11.2 deletion syndrome. 1935 35

Persistent truncus arteriosus (PTA) was diagnosed in an 8-year-old neutered male Poodle referred for echocardiographic examination prior to anesthesia for surgical correction of bilateral cataract. A single large artery limited by a bicuspid valve and overriding both ventricles was observed with 2 distinct pulmonary arteries arising from the common arterial trunk. A large size interventricular septal defect was associated with a low velocity bidirectional shunt. The lesion was identified as a Type 3 PTA according to Collett and Edwards' classification. Although no clinical signs were reported, the dog presented polycythemia (packed cell volume=68%) at the time of diagnosis. To our knowledge, this is the first report of an echocardiographic diagnosis of PTA in the dog. Until now, the ante-mortem diagnosis of this congenital heart disease has only been described in the cat. This case is also of interest because of the age of the animal and the total absence of cardio-respiratory signs at the time of diagnosis.
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PMID:Ante-mortem diagnosis of persistent truncus arteriosus in an 8-year-old asymptomatic dog. 1944 15

Calcific aortic stenosis is the third leading cause of adult heart disease and the most common form of acquired valvular disease in developed countries. However, the molecular pathways leading to calcification are poorly understood. We reported two families in which heterozygous mutations in NOTCH1 caused bicuspid aortic valve and severe aortic valve calcification. NOTCH1 is part of a highly conserved signaling pathway involved in cell fate decisions, cell differentiation, and cardiac valve formation. In this study, we examined the mechanism by which NOTCH1 represses aortic valve calcification. Heterozygous Notch1-null (Notch1(+/)(-)) mice had greater than fivefold more aortic valve calcification than age- and sex-matched wildtype littermates. Inhibition of Notch signaling in cultured sheep aortic valve interstitial cells (AVICs) also increased calcification more than fivefold and resulted in gene expression typical of osteoblasts. We found that Notch1 normally represses the gene encoding bone morphogenic protein 2 (Bmp2) in murine aortic valves in vivo and in aortic valve cells in vitro. siRNA-mediated knockdown of Bmp2 blocked the calcification induced by Notch inhibition in AVICs. These findings suggest that Notch1 signaling in aortic valve cells represses osteoblast-like calcification pathways mediated by Bmp2.
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PMID:Notch1 represses osteogenic pathways in aortic valve cells. 1969 58

Adolescent and adults with congenital heart disease (CHD) represent a special group of individuals. They often require regular assessment of their cardiac anatomy and functional hemodynamics. Most children with repaired CHD surviving to adulthood are either corrected or fully repaired and may not require long term follow-up. However, there are is a significant number of grown up children with residual abnormality or palliated defects, in whom full correction was not possible. Some of them are likely to present with complications and need repeated evaluation. Others may require improvement or stabilisation of their hemodynamics during stressful period like pregnancy or non-cardiac surgery. These conditions include single ventricle repair, repaired tetralogy, Mustard or Sennings operation for transposition of great arteries, aortic arch abnormalities, postatrioventricular septal defect (AVSD) repair, bicuspid aortic valve, Ebstein anomaly and unoperated congenital heart disease leading to Eisenmenger syndrome. The focus of this discussion will be mainly on this subset.
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PMID:Role of echocardiography in the assessment of adolescents and adults with congenital heart disease. 1976 65

Congenital coronary artery fistulas (CAFs) are uncommon abnormalities. A connection between the left main stem and main pulmonary artery is extremely rare. Congenital CAFs are frequently associated with another congenital heart disease. Associated anomalies include atrial septal defect, tetralogy of Fallot, patent ductus arteriosus, ventricular septal defect, and pulmonary atresia. Association of bicuspid aortic valve with CAF has not been reported in literature to date. We report on a 68-year-old man with congenital left main to pulmonary artery fistula associated with bicuspid aortic valve and moderate aortic stenoses, who underwent successful aortic valve replacement with ligation of CAF and also review the natural history, pathophysiology, and management of CAF.
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PMID:Congenital left main coronary artery to main pulmonary artery fistula with bicuspid aortic valve: a case report and review of literature. 2023 70


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