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
Quadricuspid pulmonic valve(QPV) is almost always a benign anomaly and is therefore usually discovered incidentally on radiographic studies or post-mortem at autopsy. Because of its rarity, the true extent of the phys...Quadricuspid pulmonic valve(QPV) is almost always a benign anomaly and is therefore usually discovered incidentally on radiographic studies or post-mortem at autopsy. Because of its rarity, the true extent of the physiology of QPV is not fully understood, and the few reported cases of it may underestimate its physiological consequences. In this case, we report on a young active-duty solider who presented for a well check-up and was discovered on imaging to have a QPV. We also review the most recent literature and provide recommendations regarding the most effective diagnostic modalities.展开更多
Background:The surgical outcomes of tetralogy of Fallot(TOF)have evolved dramatically and have resulted in lower mortality rate.Currently,the many cardiac centers have a trend to early single-stage complete repair mor...Background:The surgical outcomes of tetralogy of Fallot(TOF)have evolved dramatically and have resulted in lower mortality rate.Currently,the many cardiac centers have a trend to early single-stage complete repair more than a staged repair.However,the patients who have an early primary repair were required transannular patch augmentation of a pulmonary valve frequently.This effect has been developed a chronic pulmonary insufficiency may lead to right ventricular dilation,dysfunction.In this era,the aim of treatment of TOF is attempted to preserve pulmonary valve annulus for prevent right ventricular dysfunction in the future.The systemic to pulmonary artery shunt is a palliative procedure or known as staged repair for symptomatic patients with TOF.The modified Blalock-Taussig shunt(mBTS)is the most useful systemic to pulmonary shunt and perform as an initial procedure before complete repair.The mBTS can provide increase pulmonary blood flow as well as improve oxygenation and also promote pulmonary artery(PA)growth.However,the effect of this procedure to promote growth of a pulmonary valve annulus is still debate.Objectives:To compare a growth of pulmonary valve annulus between after staged repair and primary repair in patients with TOF(without pulmonary atresia).Methods:A retrospective case-control study,review of patients with TOF underwent total repair at our hospitals from January 2005 and December 2017 was performed,a total number of 112 patients underwent TOF repair.Twenty-nine patients(26%)underwent a staged repair(mBTS group)and 83(74%)underwent total repair only or primary repair(PR group).We evaluated diameter of pulmonary valve annulus by using echocardiography at the time of first diagnosis and before complete repair on both groups.Results:The age of diagnosis of mBTS group were younger than PR group(p=0.011).Therefore,pulmonary valve annuls were smaller in mBTS group.(Z-score,−2.93±1.42 vs.−1.89±0.97;p=0.001).However,the growth potential of pulmonary valve annulus was increase more than PR group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Quadricuspid pulmonic valve(QPV) is almost always a benign anomaly and is therefore usually discovered incidentally on radiographic studies or post-mortem at autopsy. Because of its rarity, the true extent of the physiology of QPV is not fully understood, and the few reported cases of it may underestimate its physiological consequences. In this case, we report on a young active-duty solider who presented for a well check-up and was discovered on imaging to have a QPV. We also review the most recent literature and provide recommendations regarding the most effective diagnostic modalities.
基金This research project is supported by Naresuan University fund.
文摘Background:The surgical outcomes of tetralogy of Fallot(TOF)have evolved dramatically and have resulted in lower mortality rate.Currently,the many cardiac centers have a trend to early single-stage complete repair more than a staged repair.However,the patients who have an early primary repair were required transannular patch augmentation of a pulmonary valve frequently.This effect has been developed a chronic pulmonary insufficiency may lead to right ventricular dilation,dysfunction.In this era,the aim of treatment of TOF is attempted to preserve pulmonary valve annulus for prevent right ventricular dysfunction in the future.The systemic to pulmonary artery shunt is a palliative procedure or known as staged repair for symptomatic patients with TOF.The modified Blalock-Taussig shunt(mBTS)is the most useful systemic to pulmonary shunt and perform as an initial procedure before complete repair.The mBTS can provide increase pulmonary blood flow as well as improve oxygenation and also promote pulmonary artery(PA)growth.However,the effect of this procedure to promote growth of a pulmonary valve annulus is still debate.Objectives:To compare a growth of pulmonary valve annulus between after staged repair and primary repair in patients with TOF(without pulmonary atresia).Methods:A retrospective case-control study,review of patients with TOF underwent total repair at our hospitals from January 2005 and December 2017 was performed,a total number of 112 patients underwent TOF repair.Twenty-nine patients(26%)underwent a staged repair(mBTS group)and 83(74%)underwent total repair only or primary repair(PR group).We evaluated diameter of pulmonary valve annulus by using echocardiography at the time of first diagnosis and before complete repair on both groups.Results:The age of diagnosis of mBTS group were younger than PR group(p=0.011).Therefore,pulmonary valve annuls were smaller in mBTS group.(Z-score,−2.93±1.42 vs.−1.89±0.97;p=0.001).However,the growth potential of pulmonary valve annulus was increase more than PR group
