Costello Syndrome with Congenital Pulmonary Valve Stenosis and Ventriculomegaly—A Case Report

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 p21, 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.

Quadricuspid pulmonic valve found on well exam

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.

Growth of the Pulmonary Valve Annulus after the Modified Blalock-Taussig Shunt in Patients with Tetralogy of Fallot

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 significantly(Z-score,−1.46±1.02 vs.−2.11±1.19;p=0.009)Even though a patent ductus arteriosus was found commonly in PR group(p=0.018).Conclusions:Our results suggest the systemic to pulmonary shunt or mBTS can promote growth of pulmonary valve annulus in patients with TOF.

High abundance and reproductive output of an intertidal limpet(Siphonaria japonica)in environments with high thermal predictability

The predictability of high temperatures is important for intertidal species for coping with thermal stress.To investigate the roles of high temperature and its predictability on the population abundance and reproductive output of an intertidal rocky shore limpet,Siphonaria japonica,we monitored the operative temperature,recorded the population abundance of egg ribbons and adults,and quantified the expression of heat shock protein 70(hsp70)mRNA on two warm-temperate rocky shores with different thermal environments.Abundances of limpets and egg ribbons in the hotter but more predictable(HP)habitats were higher than those in the relatively benign and unpredictable(BU)habitats.In the HP habitats,there was a strong positive correlation between habitat temperature and population abundance.For limpets living in the HP habitats,the expression of hsp70 exhibited a smaller increase with rising body temperature than for BU limpets,indicating the existence in HP limpets of a preparatory strategy in cellular stress response against thermal stress.Our results dem on strate that the predictability of operative temperature can affect physiological responses and population dynamics.The importance of predictability should be considered in analyses of the ecological consequences of climate warming.