Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome

Down syndrome is the most common chromosomal abnormality encountered in clinical practice with 50%of them having associated congenital heart disease(CHD).Shunt lesions account for around 75%of all CHDs in Down syndrome.Down syndrome patients,especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension(PH)compared with shunt lesions in general population.This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality.However,despite clear recommendations,there is wide gap between actual practice and fear of underlying PH which often leads to surgical refusals in Down syndrome even when the shunt is reversible.Another peculiarity is that Down syndrome patients can develop PH even after successful correction of shunt.It is not uncommon to come across Down syndrome patients with uncorrected shunts in adulthood with irreversible PH at which stage intracardiac repair is contraindicated and the only option available is a combined heartlung transplant.However,despite the guidelines laid by authorities,the rates of cardiac transplant in adult Down syndrome remain dismal largely attributable to the high prevalence of intellectual disability in them.The index case presents a real-world scenario highlighting the impact of severe PH on treatment strategies and discrimination driven by the fear of worse outcomes in these patients.

Reliability of Echocardiographic Pulmonary Vascular Resistance to Screen for the New Definition of Precapillary Pulmonary Hypertension in Uncorrected Secundum Atrial Septal Defect

Background and Objective:The most feared complication of uncorrected secundum Atrial Septal Defect(ASD)is pulmonary arterial hypertension(PAH).Pulmonary vascular resistance(PVR)is crucial in detecting precapil-lary pulmonary hypertension(PH)to guide the need for PAH-specific therapy.There is a change in the cut-off value of PVR according to the recently updated PH guideline.How echocardiographic PVR(PVRecho)correlates to PVR by right heart catheterization(RHC)(PVRcath)according to the new guidelines has not been known.The aim of this study is to determine the reliability of PVRecho in detecting PAH in Uncorrected Ostium Secundum ASD based on the current updated guideline and to help screen the high PVR group.Methods:429 ostium secun-dum ASD in the COngenital HeARt Disease in Adult and Pulmonary Hypertension(COHARD-PH)registry was divided into three groups according to the PVR.PVRecho was calculated using Abbas’Formula and compared the its gold standard,the PVRcath.The correlation between the two methods was analyzed.The Bland-Altman plot was used to analyze the agreement between the two methods.Receiver operating characteristics(ROC)analysis was used to determine the PVRecho cut-off value for high PVR.Results:The majority of the population(63.5%)had high PVR.Female gender dominated the study population(84%).PVR_(echo) was significantly correlated with PVRcath(r=0.6225,p<0.0001).Bland-Altman plot among all groups and in subgroups analysis showed a wide range of agreement.PVRecho underestimated PVRcath 5.124 WU.In subgroup analysis,PVRecho overestimated PVRcath 0.35 WU in those with PVR<2 WU.In the second and third groups,PVR_(echo) underestimated PVRcath 0.52 and 10.77 WU,respectively.Conclusion:PVRecho is reliable in predicting high PVR in uncorrected secun-dum ASD.However,there is a wide range of agreement.PVR_(echo) cut-off value of>1.62 WU showed good dis-criminatory power in determining high PVR.

Efficacy of Bosentan in Patients after Fontan Procedures：a Double-blind, Randomized Controlled Trial

Fontan surgery is a widely used palliative procedure that significantly improves the survival period of patients with complex congenital heart disease（CHD）. However, it does not decrease postoperative complication rate. Previous studies suggested that elevated mean pulmonary artery pressure（m PAP） and vascular resistance lead to decreased exercise tolerance and myocardial dysfunction. Therapy with endothelial receptor antagonists（Bosentan） has been demonstrated to improve the patients＇ prognosis. A double-blind, randomized controlled trial was performed to explore the efficacy of Bosentan in treating patients who underwent the Fontan procedure. Eligible participants were randomly divided into Bosentan group and control group. Liver function was tested at a local hospital and the results were reported to the phone inspector every month. If the results suggested abnormal liver function, treatment would be adjusted or terminated. All the participants finished the follow-up study, with no patients lost to follow-up. Unblinding after 2-year follow-up, no mortality was observed in either group. However, secondary end-points were found to be significantly different in the comparable groups. The cardiac function and 6-min walking distance in the Bosentan group were significantly superior to those in the control group（P=0.018 and P=0.027）. Bosentan could improve New York Heart Association（NYHA） functional status and improve the results of the 6-min walking test（6MWT） in Fontan patients post-surgery, and no other benefits were observed. Furthermore, a primary meta-analysis study systematically reviewed all the similar clinical trails worldwide and concluded an overall NYHA class improvement in Fontan patients who received Bosentan treatments.

Echocardiogram in predicting correctable shunts in ventricular septal defect patients associated with severe pulmonary hypertension

Background Echocardiogram is a simple and useful tool in disease assessment.In ventricular septal defect(VSD)patients with severe pulmonary hypertension(PH),it is difficult to judge whether further intervention is needed.Therefore,this study aimed to investigate the application of echocardiogram in predicting the severity of pulmonary hypertension and guide subsequent management.Methods This study included VSD patients who underwent right heart catheterization(RHC)examination in Guangdong Provincial People's Hospital from January2011 to December 2022.An estimated pulmonary artery systolic pressure(e PASP)higher than 60 mm Hg was defined as severe PH in this study.Logistic regression analysis and receiver operating characteristic curve(ROC)analysis were used.Results A total of 186 VSD patients with severe PH(e PASP more than 60 mm Hg)were included in this study,with 158 cases in the non-correctable group and 28 cases in the collectable group.In univariable logistic regression,left atrium dimension(LA),left ventricular end-diastolic dimension(LVDd),left ventricular end-systolic dimension(LVDs),peak velocity of the pulmonary valve(PV),peak velocities from the early phase of the mitral inflow(MVE),bidirectional shunting and pericardial effusion were associated with a correctable shunt.When adjusted in multivariable model,only PV and bidirectional shunting remained statistically significant.The ROC curve found that PV exhibits good discriminative ability for correctable shunt(AUC[area under the curve]:0.779,95%CI:0.676-0.871)with a cut-off value of 1.465 m/s.The predictive performance of bidirectional shunting was not satisfactory,with a low AUC of 0.669(95%CI:0.571-0.766).Conclusions PV and bidirectional shunting are simple and clinically available parameters from echocardiogram in predicting PH severity,which not only avoids the repeated unnecessary cardiac catheterization,but also provides a reference basis for follow-up evaluation.