BACKGROUND The SEMA3A gene,which is located at 7q21.11,is involved in hypothalamic neuron migration,heart development,kidney development,and skeleton metabolism.Mutation of the SEMA3A gene is associated with Kallmann ...BACKGROUND The SEMA3A gene,which is located at 7q21.11,is involved in hypothalamic neuron migration,heart development,kidney development,and skeleton metabolism.Mutation of the SEMA3A gene is associated with Kallmann syndrome 16 with or without a normal sense of smell.In addition,two case reports showed that mutation of the SEMA3A gene could cause short stature,low gonadotropin,hypogonadism,thoracic deformity,a high scapula,rib and lower limb deformity,facial deformity(long face,epicanthic folds,backwards ears),and arterial malformation.CASE SUMMARY We reported the case of a 26-year-old Chinese man who was admitted because of short stature.Physical examination showed that he had many abnormal symptoms,including a short neck,facial moles,knee valgus,transverse palm,continuous grade 5/6 murmurs in the pulmonary auscultation area,no whiskers,or pubic hair,no Adam’s apple,short penis and cryptorchidism.Radiological examination showed pituitary,gonad,heart,kidney and skeletal dysplasia.The laboratory tests revealed low growth hormone,luteinizing hormone,folliclestimulating hormone,testosterone and estrogen.Clinical whole-exome detection showed that our patient,unlike previously reported patients,has a new SEMA3A gene mutation(c.950A>G).Now,his height has increased by 3 cm.In addition,he has a good appetite and reduced subcutaneous fat over 3 mo of recombinant human growth hormone injections therapy.Unfortunately,he refuses further treatment about gonad.CONCLUSION Patients who come to a hospital because of their short stature must undergo gene detection if they have other simultaneous abnormal phenotypes.展开更多
Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological ...Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological cardiac modeling in athletes is associated with normal or enhanced cardiac function, but recent studies have documented decrements in left ventricular function during intense exercise and the release of cardiac markers of necrosis in athlete's blood of uncertain significance. Furthermore, cardiac remodeling may predispose athletes to heart disease and result in electrical remodeling, responsible for arrhythmias. Athlete's heart is a physiological condition and does not require a specific treatment. In some conditions, it is important to differentiate the physiological adaptations from pathological conditions, such as hypertrophic cardiomyopathy, arrhythmogenic dysplasia of the right ventricle, and non-compaction myocardium, for the greater risk of sudden cardiac death of these conditions. Moreover, some drugs and performance-enhancing drugs can cause structural alterations and arrhythmias, therefore, their use should be excluded.展开更多
Pulmonary hypertension is a rare and potentially fatal disease in children if left untreated. Emerging therapies, including Bosentan, a dual endothelin receptor antagonist, have shown significant benefits in the adult...Pulmonary hypertension is a rare and potentially fatal disease in children if left untreated. Emerging therapies, including Bosentan, a dual endothelin receptor antagonist, have shown significant benefits in the adult pulmonary hypertension population;however, few studies have assessed the efficacy and safety of endothelin receptor antagonists in infants and young children. Our study was a single-center retrospective analysis of patients less than two years of age with a confirmed diagnosis of pulmonary hypertension and initiated on Bosentan therapy between 2017 and 2020. Twelve cases met eligibility criteria. Demographic data, laboratory data, echocardiographic, and cardiac catheterization data were analyzed. With treatment, there was a statistically significant decrease in mean right ventricular systolic pressure estimated by the tricuspid regurgitation jet (79 ± 23 mmHg reduced to 52 ± 25 mmHg;p < 0.001) N-terminal pro-hormone B-type natriuretic peptide levels (21,071 reduced to 2,037;p < 0.001). Additionally, improvement and eventual normalization of right ventricular function and septal geometry was seen within the first four months of therapy. Patients who underwent cardiac catheterization after therapy initiation (n = 4) demonstrated hemodynamic improvements;however, only the decrease in diastolic pulmonary artery pressure was statistically significant (p = 0.018). No significant differences in hemoglobin, platelet count, or liver function tests were observed between groups. In conclusion, these data suggest that Bosentan may be an effective and relatively safe treatment option for children less than two years of age with pulmonary hypertension. Further long-term randomized control studies are necessary to validate the potential clinical benefit of utilizing this drug therapy in young children.展开更多
目的探讨应用产前超声心动图诊断左心发育不良综合征(hypoplastic left heart syndrome,HLHS)合并主动脉或圆锥动脉干发育异常的临床研究。方法回顾性分析2017年1月至2019年6月于四川省妇幼保健院超声医学科行产前胎儿超声心动图检查诊...目的探讨应用产前超声心动图诊断左心发育不良综合征(hypoplastic left heart syndrome,HLHS)合并主动脉或圆锥动脉干发育异常的临床研究。方法回顾性分析2017年1月至2019年6月于四川省妇幼保健院超声医学科行产前胎儿超声心动图检查诊断为HLHS 52例胎儿的临床情况。结果52例产前超声心动图诊断HLHS的胎儿均为I型(二尖瓣狭窄+主动脉瓣狭窄),其中16例(30%)为单纯型HLHS,36例(70%)为非单纯型(合并除HLHS外的畸形)。36例非单纯型HLHS中合并主动脉缩窄11例(21%),圆锥动脉干发育异常6例(11%),其中包括右室双出口3例(6%)、永存动脉干2例(3%)、完全型大动脉转位1例(2%),另19例非单纯型HLHS合并有室间隔缺损、永存左上腔静脉、单心房及下腔静脉离断等。结论胎儿诊断为HLHS的同时常合并有主动脉或圆锥动脉干发育异常的可能性,对诊断HLHS的胎儿产前超声心动图检查应重点观察主动脉和圆锥动脉干,以防漏诊。展开更多
Background：The incidence of Ebstein＇s anomaly is extremely low,and except for the Mayo Clinic,no cardiac center has reported on a sufficient number of patients.The aim of our study was to report the outcomes of Ebst...Background：The incidence of Ebstein＇s anomaly is extremely low,and except for the Mayo Clinic,no cardiac center has reported on a sufficient number of patients.The aim of our study was to report the outcomes of Ebstein＇s anomaly patients treated with tricuspid valvuloplasty （TVP） or tricuspid valve replacement （TVR）.Methods：TVP or TV R was performed in 245 patients from July 2006 to April 2016.We reviewed patients＇ records and contacted patients via outpatient service and over the telephone.Results：The mean follow-up time was 43.6 ± 32.6 months,and 224 （91.4％） patients underwent follow-up.The mean operative age was 31.2 ± 15.7 years.TVR was performed in 23 patients,and TVP was performed in 201 patients.The 30-day mortality rate was 1.3％,and the overall survival rate was 97.9％ at 5 and l0 years.The early mortality rate of the TVP group was lower than that of the TVR group （0.5％ vs.8.7％,P =0.028）,and the overall mortality rate of the TVP group was lower than that of the TVR group,without statistical significance （1.0％ vs.8.7％）.After propensity score matching,the rates of mortality and New York Heart Association class ≥Ⅲ were lower in the TVP group than those in the TVR group without statistical significance.Seven patients with Type B Wolff-Parkinson-White （WPW） syndrome underwent one-stage surgery,and arrhythmias disappeared.Six patients suffered from episodes of left ventricular outflow tract obstruction （LVOTO） during surgery.Severe LVOTO could be treated with reoperation of the atrialized right ventricle.Conclusions：Ebstein＇s anomaly patients treated with TVP or TVR can experience optimal outcomes with midterm follow-up.However,TVP should be the first-choice treatment.Optimal outcomes can be obtained from one-stage operation in patients with Type B WPW syndrome.Severe LVOTO during surgery might be related to improper operation of the atrialized right ventricle.展开更多
文摘BACKGROUND The SEMA3A gene,which is located at 7q21.11,is involved in hypothalamic neuron migration,heart development,kidney development,and skeleton metabolism.Mutation of the SEMA3A gene is associated with Kallmann syndrome 16 with or without a normal sense of smell.In addition,two case reports showed that mutation of the SEMA3A gene could cause short stature,low gonadotropin,hypogonadism,thoracic deformity,a high scapula,rib and lower limb deformity,facial deformity(long face,epicanthic folds,backwards ears),and arterial malformation.CASE SUMMARY We reported the case of a 26-year-old Chinese man who was admitted because of short stature.Physical examination showed that he had many abnormal symptoms,including a short neck,facial moles,knee valgus,transverse palm,continuous grade 5/6 murmurs in the pulmonary auscultation area,no whiskers,or pubic hair,no Adam’s apple,short penis and cryptorchidism.Radiological examination showed pituitary,gonad,heart,kidney and skeletal dysplasia.The laboratory tests revealed low growth hormone,luteinizing hormone,folliclestimulating hormone,testosterone and estrogen.Clinical whole-exome detection showed that our patient,unlike previously reported patients,has a new SEMA3A gene mutation(c.950A>G).Now,his height has increased by 3 cm.In addition,he has a good appetite and reduced subcutaneous fat over 3 mo of recombinant human growth hormone injections therapy.Unfortunately,he refuses further treatment about gonad.CONCLUSION Patients who come to a hospital because of their short stature must undergo gene detection if they have other simultaneous abnormal phenotypes.
文摘Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological cardiac modeling in athletes is associated with normal or enhanced cardiac function, but recent studies have documented decrements in left ventricular function during intense exercise and the release of cardiac markers of necrosis in athlete's blood of uncertain significance. Furthermore, cardiac remodeling may predispose athletes to heart disease and result in electrical remodeling, responsible for arrhythmias. Athlete's heart is a physiological condition and does not require a specific treatment. In some conditions, it is important to differentiate the physiological adaptations from pathological conditions, such as hypertrophic cardiomyopathy, arrhythmogenic dysplasia of the right ventricle, and non-compaction myocardium, for the greater risk of sudden cardiac death of these conditions. Moreover, some drugs and performance-enhancing drugs can cause structural alterations and arrhythmias, therefore, their use should be excluded.
文摘Pulmonary hypertension is a rare and potentially fatal disease in children if left untreated. Emerging therapies, including Bosentan, a dual endothelin receptor antagonist, have shown significant benefits in the adult pulmonary hypertension population;however, few studies have assessed the efficacy and safety of endothelin receptor antagonists in infants and young children. Our study was a single-center retrospective analysis of patients less than two years of age with a confirmed diagnosis of pulmonary hypertension and initiated on Bosentan therapy between 2017 and 2020. Twelve cases met eligibility criteria. Demographic data, laboratory data, echocardiographic, and cardiac catheterization data were analyzed. With treatment, there was a statistically significant decrease in mean right ventricular systolic pressure estimated by the tricuspid regurgitation jet (79 ± 23 mmHg reduced to 52 ± 25 mmHg;p < 0.001) N-terminal pro-hormone B-type natriuretic peptide levels (21,071 reduced to 2,037;p < 0.001). Additionally, improvement and eventual normalization of right ventricular function and septal geometry was seen within the first four months of therapy. Patients who underwent cardiac catheterization after therapy initiation (n = 4) demonstrated hemodynamic improvements;however, only the decrease in diastolic pulmonary artery pressure was statistically significant (p = 0.018). No significant differences in hemoglobin, platelet count, or liver function tests were observed between groups. In conclusion, these data suggest that Bosentan may be an effective and relatively safe treatment option for children less than two years of age with pulmonary hypertension. Further long-term randomized control studies are necessary to validate the potential clinical benefit of utilizing this drug therapy in young children.
文摘目的探讨应用产前超声心动图诊断左心发育不良综合征(hypoplastic left heart syndrome,HLHS)合并主动脉或圆锥动脉干发育异常的临床研究。方法回顾性分析2017年1月至2019年6月于四川省妇幼保健院超声医学科行产前胎儿超声心动图检查诊断为HLHS 52例胎儿的临床情况。结果52例产前超声心动图诊断HLHS的胎儿均为I型(二尖瓣狭窄+主动脉瓣狭窄),其中16例(30%)为单纯型HLHS,36例(70%)为非单纯型(合并除HLHS外的畸形)。36例非单纯型HLHS中合并主动脉缩窄11例(21%),圆锥动脉干发育异常6例(11%),其中包括右室双出口3例(6%)、永存动脉干2例(3%)、完全型大动脉转位1例(2%),另19例非单纯型HLHS合并有室间隔缺损、永存左上腔静脉、单心房及下腔静脉离断等。结论胎儿诊断为HLHS的同时常合并有主动脉或圆锥动脉干发育异常的可能性,对诊断HLHS的胎儿产前超声心动图检查应重点观察主动脉和圆锥动脉干,以防漏诊。
文摘Background：The incidence of Ebstein＇s anomaly is extremely low,and except for the Mayo Clinic,no cardiac center has reported on a sufficient number of patients.The aim of our study was to report the outcomes of Ebstein＇s anomaly patients treated with tricuspid valvuloplasty （TVP） or tricuspid valve replacement （TVR）.Methods：TVP or TV R was performed in 245 patients from July 2006 to April 2016.We reviewed patients＇ records and contacted patients via outpatient service and over the telephone.Results：The mean follow-up time was 43.6 ± 32.6 months,and 224 （91.4％） patients underwent follow-up.The mean operative age was 31.2 ± 15.7 years.TVR was performed in 23 patients,and TVP was performed in 201 patients.The 30-day mortality rate was 1.3％,and the overall survival rate was 97.9％ at 5 and l0 years.The early mortality rate of the TVP group was lower than that of the TVR group （0.5％ vs.8.7％,P =0.028）,and the overall mortality rate of the TVP group was lower than that of the TVR group,without statistical significance （1.0％ vs.8.7％）.After propensity score matching,the rates of mortality and New York Heart Association class ≥Ⅲ were lower in the TVP group than those in the TVR group without statistical significance.Seven patients with Type B Wolff-Parkinson-White （WPW） syndrome underwent one-stage surgery,and arrhythmias disappeared.Six patients suffered from episodes of left ventricular outflow tract obstruction （LVOTO） during surgery.Severe LVOTO could be treated with reoperation of the atrialized right ventricle.Conclusions：Ebstein＇s anomaly patients treated with TVP or TVR can experience optimal outcomes with midterm follow-up.However,TVP should be the first-choice treatment.Optimal outcomes can be obtained from one-stage operation in patients with Type B WPW syndrome.Severe LVOTO during surgery might be related to improper operation of the atrialized right ventricle.
