Costello syndrome is an extremely rare genetic disorder with growth delay after birth and typically results in short stature during childhood. It is one of the RASopathy of Ras/MAPK pathway syndromes. It affects the t...Costello syndrome is an extremely rare genetic disorder with growth delay after birth and typically results in short stature during childhood. It is one of the RASopathy of Ras/MAPK pathway syndromes. It affects the transforming protein p<sup>21</sup>, an enzyme that in humans is encoded by the HRAS gene. H-Ras is a small G protein and once bound to Guanosine triphosphate, it will activate a Raf kinase like C-Raf, the next step in the MAPK/ERK pathway (mitogen-actvated protein kinase/extracellular signal-regulated kinase) i.e., MEK (mitogen-actvated ERK kinase), a protein that phosphorylate ERK which can directly and indirectly activate many transcription factors. This pathway is also known as Ras-Raf, MEK-ERK pathway, which is a chain of proteins on the cell that communicate a signal from a receptor on the surface of the cell to the DNA in the nucleus of the cell. Activation of ERK 1/2 is involved in signal transduction pathways associated with cardiac hypertrophy. The developmental syndromes caused by germline mutations in genes that alter the RAS components of the MAP/ERK signal transduction pathway are called “RASopathies”. Cardiovascular abnormalities are important features of Costello syndrome and other RASopathies such as Noonan syndrome. Background of this case report described the congenital valvular pulmonic stenosis and ventriculomegaly associated with Costello syndrome by transthoracic echocardiographic imaging in a 9-year-old male boy.展开更多
To investigate the mechanism and correlated factors of systolic anterior motion （SAM） phenomenon after aortic valve replacement, 48 patients with severe aortic valvular stenosis were studied. Tested by echo-Doppler ...To investigate the mechanism and correlated factors of systolic anterior motion （SAM） phenomenon after aortic valve replacement, 48 patients with severe aortic valvular stenosis were studied. Tested by echo-Doppler one week after aortic valve replacement, the patients were divided into two groups： SAM group and non-SAM group. The data of the left ventricular end-diastolic diameters, the left ventricular end-systolic diameters, the left ventricular outflow diameters, the thickness of the interventricular septum, the posterior wall of left ventricle, the blood velocities of left ventricular outflow and intra-cavitary gradients were recorded and compared. The results showed that no patients died during or after the operation. The blood velocities of left ventricular outflow was increased significantly in 9 patients （〉2.5 m/s）, and 6 of them developed SAM phenomenon. There was significant difference in all indexes （P〈0.05 or P〈0.01） except the posterior wall of left ventricle （P〉0.05） between two groups. These indicated that the present of SAM phenomenon after aortic valve replacement may be directly related to the increase of blood velocities of left ventricular outflow and intra-cavitary gradients. It is also suggested that smaller left ventricular diastolic diameters, left ventricular systolic diameters, left ventricular outflow diameters and hypertrophy of interventricular septum may be the anatomy basis of SAM phenomenon.展开更多
Objective To assess the effect of the balloon valvuloplasty for congenital valvular aortic stenosis (AS) in children.Methods A total of 27 (mean age 6.09 years) children with AS accepted the treatment of percutaneous ...Objective To assess the effect of the balloon valvuloplasty for congenital valvular aortic stenosis (AS) in children.Methods A total of 27 (mean age 6.09 years) children with AS accepted the treatment of percutaneous balloon aortic valvuloplasty (PBAV). The ratios of balloon/valve were 0.95 ± 0.08 for 19 cases of typical AS and 1.00 ± 0.11 for 8 cases of hypoplastic AS. The patients were evaluated by the gradients across aotic valves in pre- and post-PBAV and by echocardiogram during the follow-up period.Results Fifteen of 19 (78.9％)cases of typical AS had a batter outcome and the gradient of the remaining 4 cases (26.7％) had increased after follow-up (△P ＞ 50 mm Hg) . Four of 8 (50.0％) cases of hypoplastic AS had satisfactory responses and the gradient of the remaining 3 cases (75.0％) rose. There was no moderate to severe aortic insufficiency (Al).Conclusion The balloon aortic valvuloplasty provides safe and significant hemodynamic and clinical improvement in pediatric patients. The outcome of PBAV for typical AS is better than for hypoplastic AS.展开更多
文摘Costello syndrome is an extremely rare genetic disorder with growth delay after birth and typically results in short stature during childhood. It is one of the RASopathy of Ras/MAPK pathway syndromes. It affects the transforming protein p<sup>21</sup>, an enzyme that in humans is encoded by the HRAS gene. H-Ras is a small G protein and once bound to Guanosine triphosphate, it will activate a Raf kinase like C-Raf, the next step in the MAPK/ERK pathway (mitogen-actvated protein kinase/extracellular signal-regulated kinase) i.e., MEK (mitogen-actvated ERK kinase), a protein that phosphorylate ERK which can directly and indirectly activate many transcription factors. This pathway is also known as Ras-Raf, MEK-ERK pathway, which is a chain of proteins on the cell that communicate a signal from a receptor on the surface of the cell to the DNA in the nucleus of the cell. Activation of ERK 1/2 is involved in signal transduction pathways associated with cardiac hypertrophy. The developmental syndromes caused by germline mutations in genes that alter the RAS components of the MAP/ERK signal transduction pathway are called “RASopathies”. Cardiovascular abnormalities are important features of Costello syndrome and other RASopathies such as Noonan syndrome. Background of this case report described the congenital valvular pulmonic stenosis and ventriculomegaly associated with Costello syndrome by transthoracic echocardiographic imaging in a 9-year-old male boy.
文摘To investigate the mechanism and correlated factors of systolic anterior motion （SAM） phenomenon after aortic valve replacement, 48 patients with severe aortic valvular stenosis were studied. Tested by echo-Doppler one week after aortic valve replacement, the patients were divided into two groups： SAM group and non-SAM group. The data of the left ventricular end-diastolic diameters, the left ventricular end-systolic diameters, the left ventricular outflow diameters, the thickness of the interventricular septum, the posterior wall of left ventricle, the blood velocities of left ventricular outflow and intra-cavitary gradients were recorded and compared. The results showed that no patients died during or after the operation. The blood velocities of left ventricular outflow was increased significantly in 9 patients （〉2.5 m/s）, and 6 of them developed SAM phenomenon. There was significant difference in all indexes （P〈0.05 or P〈0.01） except the posterior wall of left ventricle （P〉0.05） between two groups. These indicated that the present of SAM phenomenon after aortic valve replacement may be directly related to the increase of blood velocities of left ventricular outflow and intra-cavitary gradients. It is also suggested that smaller left ventricular diastolic diameters, left ventricular systolic diameters, left ventricular outflow diameters and hypertrophy of interventricular septum may be the anatomy basis of SAM phenomenon.
文摘Objective To assess the effect of the balloon valvuloplasty for congenital valvular aortic stenosis (AS) in children.Methods A total of 27 (mean age 6.09 years) children with AS accepted the treatment of percutaneous balloon aortic valvuloplasty (PBAV). The ratios of balloon/valve were 0.95 ± 0.08 for 19 cases of typical AS and 1.00 ± 0.11 for 8 cases of hypoplastic AS. The patients were evaluated by the gradients across aotic valves in pre- and post-PBAV and by echocardiogram during the follow-up period.Results Fifteen of 19 (78.9％)cases of typical AS had a batter outcome and the gradient of the remaining 4 cases (26.7％) had increased after follow-up (△P ＞ 50 mm Hg) . Four of 8 (50.0％) cases of hypoplastic AS had satisfactory responses and the gradient of the remaining 3 cases (75.0％) rose. There was no moderate to severe aortic insufficiency (Al).Conclusion The balloon aortic valvuloplasty provides safe and significant hemodynamic and clinical improvement in pediatric patients. The outcome of PBAV for typical AS is better than for hypoplastic AS.
