1/9. Aortic root dilation in apparent Lujan-Fryns syndrome.We present a patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation. They both have physical anomalies, characteristic behaviors, and cognitive disabilities that are consistent with the diagnosis of Lujan-Fryns syndrome (LFS). Although there have been 4 cases reported in the literature with heart findings, ventricular septal defect and aortic root dilation have not been previously reported in LFS. Differentiation between LFS and marfan syndrome (MS) is discussed. The pathophysiology of LFS as a connective tissue disorder is also considered.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/9. Percutaneous replacement of pulmonary valve in a right-ventricle to pulmonary-artery prosthetic conduit with valve dysfunction.BACKGROUND: Valved conduits from the right ventricle to the pulmonary artery are frequently used in paediatric cardiac surgery. However, stenosis and insufficiency of the conduit usually occur in the follow-up and lead to reoperations. Conduit stenting can delay surgical replacement, but it aggravates pulmonary insufficiency. We developed an innovative system for percutaneous stent implantation combined with valve replacement. methods: A 12-year-old boy with stenosis and insufficiency of a prosthetic conduit from the right ventricle to the pulmonary artery underwent percutaneous implantation of a bovine jugular valve in the conduit. FINDINGS: Angiography, haemodynamic assessment, and echocardiography after the procedure showed no insufficiency of the implanted valve, and partial relief of the conduit stenosis. There were no complications after 1 month of follow-up, and the patient is presently in good physical condition. INTERPRETATION: We have shown that percutaneous valve replacement in the pulmonary position is possible. With further technical improvements, this new technique might also be used for valve replacement in other cardiac and non-cardiac positions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/9. Physical parameters affecting the visibility of small ventricular septal defects using two-dimensional echocardiography.We report a study showing that two-dimensional echocardiography is capable of visualizing a ventricular septal defect as small as 3 mm. The physical parameters which determine the visibility of an aperture in the myocardium include the presence of anterior refractile tissue, the amount of ultrasound beam focusing and range over which this occurs, the angle of incidence of the ultrasound beam on the septum, and the number of lines of information per degree of sector sweep. These factors are illustrated by in vitro tests. The influence of operator controllable variables in two-dimensional sector scanning echocardiography is discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/9. Delineation of tunnel-like-ventricular septal defects in young children by axial cineangiography.Four children with systolic thrills and harsh pansystolic murmurs in the second left and right intercostal spaces, radiating to the base of the neck, and suspected of having a subaortic ventricular septal defect and possible aortic prolapse underwent angiocardiography using axial projections. All demonstrated an unusual "tunnel-like" track into the right ventricle and no subaortic ventricular septal defect or prolapse. In our opinion, these physical findings suggest this abnormality and that axial angiography clearly delineates the lesion.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/9. Successful pregnancy in a woman with cyanotic congenital heart disease after a palliative pulmonary-systemic shunt. A case report.A 20-year-old woman with cyanotic congenital heart disease composed of corrected transposition of the great vessels, severe pulmonic stenosis, atresia of the left pulmonary artery and a large ventricular septal defect, had a successful pregnancy following a pulmonary-systemic shunt (Blalock-Taussig). The hemoglobin decreased from 21 to 16 g/dL following the operation. The antepartum course was complicated by intrauterine growth retardation and pregnancy-induced hypertension. A normal fetal nonstress test and biophysical profile permitted continuation of the pregnancy until 38 weeks' gestation, with delivery of a healthy infant.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/9. Severe calcific pulmonic valve stenosis and restrictive ventricular septal defect in a 64-year-old man. Results of percutaneous double balloon valvuloplasty.The clinical and hemodynamic features of a 64-year-old symptomatic man with severe calcific pulmonic valve stenosis and restrictive ventricular septal defect are reported. Successful double balloon percutaneous pulmonic valvuloplasty immediately produced excellent symptomatic benefit and introduced expected and well tolerated hemodynamic changes. The transpulmonic valve peak systolic pressure gradient was reduced from 130 to 30 mmHg and pulmonary artery pressure increased to top normal levels acquiring normal pulse wave configuration. A left-to-right shunt, negligible prior to valvuloplasty, increased appreciably producing a pulmonary to systemic flow ratio of 1.7. Reevaluation at 5 months revealed sustained hemodynamic profile. Symptomatic benefit and tolerance to ordinary physical activities have remained excellent at 1 year follow-up.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/9. Severe pulmonary hypertension in pregnancy following successful repair of ventricular septal defect in childhood.BACKGROUND: Because of advances in surgical repair, an increasing number of women born with structural cardiac disease now live to reproductive age. patients treated successfully in childhood are followed for varying periods of time, then may be lost to follow-up or told that no follow-up is necessary because their condition is stable. However, the hemodynamic changes that accompany pregnancy may result in cardiovascular decompensation, even after years of apparently good health. CASES: We have recently cared for two women who had undergone repair of congenital heart disease in childhood. Although they thought that their repair was complete and they had been asymptomatic until the pregnancy, both presented with symptoms and signs of severe pulmonary hypertension, subsequently confirmed on cardiac catheterization. One patient elected to terminate her pregnancy, and the other died in the immediate puerperium. CONCLUSION: Despite normal physical function and an absence of abnormal physical findings, a thorough cardiac evaluation including echocardiography should be considered for pregnant patients with a history of repaired congenital heart disease, especially if the original defect is known to lead to pulmonary hypertension.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
8/9. Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome.Two cases of partial trisomy 8q are presented. Common clinical features included severe mental and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis of the back, coxa valga, and short fingers with brachymesophalangy and clinodactyly of the little fingers. Moreover, Case 1 had a frontal meningocele and bilateral talipes equinovarus, and Case 2 had a ventricular septal defect. The chromosome aberration in the two girls arose from a maternal balanced translocation, t(8;18) (q2309;p113). Since the major clinical features of mosaic trisomy 8 are absent in the two girls and in other cases of partial trisomy, both for the distal segment of the long arm and for the short arm of chromosome 8, it is concluded that trisomy of the proximal part of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/9. Supravalvular mitral stenosis associated with ventricular septal defect.We describe three patients with supravalvular mitral stenosis caused by a diaphragm located just above the mitral valve and associated with a ventricular septal defect. Two of our three patients also had an associated coarctation of the aorta. The physical signs, ECGs, chest roentgenograms, and cardiac catheterization data are described. Points helpful in the differential diagnosis of this malformation are emphasized. All three patients were treated successfully by surgery.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |