1/40. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.Previous studies have shown that patients with deletion of distal human chromosome arm 8p may have congenital heart disease and other physical anomalies. The gene encoding GATA-4, a zinc finger transcription factor implicated in cardiac gene expression and development, localizes to chromosome region 8p23.1. To examine whether GATA-4 deficiency is present in patients with monosomy of 8p23.1 with congenital heart disease, we performed fluorescence in situ hybridization (FISH) with a GATA4 probe on cells from a series of patients with interstitial deletion of 8p23.1. Four individuals with del(8)(p23.1) and congenital heart disease were found to be haploinsufficient at the GATA4 locus by FISH. The GATA4 gene was not deleted in a fifth patient with del(8)(p23.1) who lacked cardiac anomalies. FISH analysis on cells from 48 individuals with congenital heart disease and normal karyotypes failed to detect any submicroscopic deletions at the GATA4 locus. We conclude that haploinsufficiency at the GATA4 locus is often seen in patients with del(8)(p23.1) and congenital heart disease. Based on these findings and recent studies showing that haploinsufficiency for other cardiac transcription factor genes (e.g., TBX5, NKX2-5) causes congenital heart disease, we postulate that GATA-4 deficiency may contribute to the phenotype of patients with monosomy of 8p23.1.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/40. Striae and acne following cardiac surgery in a child.We report a 13-year-old girl with extensive striae and an acneiform eruption following surgery for complex congenital heart disease. These findings were associated with elevated serum and urinary cortisol levels with loss of diurnal rhythm. The resolution of the eruption and the fading of her striae coincided in time with normalization of her blood parameters on day 72 postoperatively. We conclude that the cause of steroid excess in our patient was stress induced by the cardiac surgery and a complicated and protracted postoperative course. To our knowledge, this is the first report in the English language literature of skin changes due to endogenous hypercortisolaemia caused by intense physical and emotional stress.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/40. trisomy 19 q.Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/40. Congenital absence of pericardium as unusual cause of T wave abnormalities in a young athlete.The congenital absence of pericardium is a rare condition which may determine electrocardiographic ST-T abnormalities. The case of a 16-year-old athlete who presented T-wave abnormalities at standard electrocardiogram performed during a physical checkup is reported. Ventricular repolarization tended to normalize during exercise and in right lateral decubitus. Chest x-ray and echocardiography showed typical signs of complete absence of the left pericardium. The definite diagnosis was made by computer tomography (CT) scan. The importance of a complete investigation of athletes with T-wave abnormalities is emphasized. Diagnostic and therapeutic features of the congenital absence of pericardium are discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/40. Acardiac anomaly spectrum.BACKGROUND: Acardiac anomaly spectrum is a rare congenital malformation found in monozygotic twin pregnancy. Besides the absence of heart, the condition is associated with variable grades of developmental disruption. Thus, no two cases are similar. methods: This case report is based on physical examination and autopsy findings. RESULTS: The twin had acardia and partial development of head and face. There was complete absence of upper extremities. CONCLUSIONS: The twin reversed arterial perfusion (TRAP) theory is the most accepted etiology of the disorder. Normally, the cephalic pole is the most severely affected, being most distal to the retrograde perfusion. In acardia, partial development of head, face, and brain is usually associated with the development of the upper extremities. However, in the present case, there was extensive cephalic development in the absence of upper extremity development.- - - - - - - - - - ranking = 5.1498559586069keywords = physical examination, physical (Clic here for more details about this article) |
6/40. Marfanoid habitus, dysmorphic features, and web neck.Bilateral pneumothoraces and aortic dilatation developed in a 25-year-old white man with marfanoid habitus, dysmorphic features, web neck, and intellectual impairment. He had physical features suggestive of Shprintzen-Goldberg syndrome. We review the common characteristics of Marfan and Shprintzen-Goldberg syndromes and compare them with our case. physicians should beware of potential cardiovascular abnormalities in patients with marfanoid habitus and dysmorphic features.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/40. Aortopulmonary window and double aortic arch. A rare association.We report the case of a 27-year-old male patient with dyspnea on physical exertion. Clinical assessment and various tests led to the diagnosis of aortopulmonary window and double aortic arch. According to a literature search, this may be the first report on such association.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/40. Hepatic vein-to-azygos vein connection in a patient with interrupted inferior vena cava.Massive systemic-to-hepatic venous collaterals developed in a 8-year-old boy with left isomerism and azygos connection of the inferior vena cava who had undergone total cavopulmonary shunt leaving the hepatic vein connected to the common atrium 5 years previously. A hepatic vein-to-azygos vein connection via an autologous pericardial roll successfully ameliorated cyanosis and physical activity. Hepatic vein-to-azygos vein connection is technically easy and is favorable in providing balanced distribution of hepatic venous blood to both lungs. We recommend this technique as an effective alternative to hepatic vein-to-pulmonary artery connection in patients developing collateral vessels after total cavopulmonary shunt.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/40. Serial stent implantation to relieve in-stent stenosis in obstructed total anomalous pulmonary venous return.A nine-year-old girl with complex cyanotic heart disease associated with supracardiac total anomalous venous return and obstruction at the drainage site of the vertical vein into the left innominate vein had stent placement at the age of seven, with immediate increase of oxygen saturation and improvement of physical activity. Significant in-stent stenosis occurred that was successfully treated by concentrical placement of a second stent. This case report demonstrates the transluminal approach to be effective in the treatment of stenoses in congenital heart defects that are not eligible for corrective surgery.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/40. Left ventricular outflow tract obstruction produced by redundant mitral valve tissue in a neonate. Clinical, angiographic, and operative findings.An unusual case of left ventricular outflow tract obstruction associated with severe left ventricular failure in a neonate is reported. The physical and laboratory data were consistent with the diagnosis of infantile valvular aortic stenosis. At operation, however, redundant gelatinous pedunculated tissue attached to the mitral valve annulus appeared to move through and obstruct the aortic valve during systole. The aortic valve showed only minimal thickening of the right and left coronary cusps. A distinct angiographic pattern was demonstrated during left ventricular cineangiography. In the frontal projection a large ovoid filling defect appeared to protrude through the aortic valve during systole and return to a subvalvular location during diastole. Recognition of this angiographic pattern should facilitate diagnosis and subsequent repair. Complete correction is possible by operative excision of the obstructing tissue without damaging the mitral valve. In contrast to isolated congenital infantile valvular aortic stenosis, a condition in which the valve leaflets are often primitive and deformed, aortic valvotomy and/or subsequent valve replacement are not necessary, resulting in a better long-term prognosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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