Myocardial ischemia secondary to congenital hypoplastic left coronary cusp in adult

Coronary arterial obstruction associated with congenital aortic valve disease is rare in childhood, and has not been reported in adult. Here we reported a 49-year-old healthy woman with hypoplastic left coronary cusp resulting in myocardial ischemia in the territory of left main coronary artery.     

Three-stage Palliation of Hypoplastic Left Heart Syndrome in the University HealthSystem Consortium

Objective. The objective of this study was to describe current management and short-term outcomes for patients with hypoplastic left heart syndrome representative of nationwide experience. Additionally, this study identifies risk factors associated with mortality in patients undergoing staged surgical palliation. Design. The University HealthSystem Consortium database was queried to identify all hospital admissions between 1998 and 2007 with a diagnosis of hypoplastic left heart syndrome. Procedure codes were used to determine surgical management, and outcomes were ascertained by discharge status (discharged, transferred, or expired). Results. Discharge data were present from 118 hospitals in the United States. First-stage surgical palliation was performed in 1949 neonates with 30% mortality. Mortality decreased from 43% in 1998 to 18% in 2007. Large institutional case volume and later era of surgery were associated with improved operative mortality in first-stage palliation. Primary cardiac transplantation was performed in 28 neonates, and rescue transplantation in 11, with 36% mortality. Second-stage palliation was performed in 1244 patients with 5.2% mortality, and third-stage palliation was performed in 1084 patients with 4.1% mortality. An additional 62 patients over 1 month of age at time of admission received cardiac transplantation with 15% mortality. Conclusions. First-stage palliative mortality for hypoplastic left heart syndrome fell dramatically over the past decade, while that for second- and third-stage procedures remained stable. The cumulative operative mortality for three-staged repair of hypoplastic left heart syndrome was 39% over the decade, but fell to 24% for procedures in 2007.     

胎儿超声心动图诊断左心发育不良综合征13例报道

目的:探讨应用胎儿超声心动图对左心发育不良综合征(HLHS),诊断方法及诊断价值。方法:对胎儿超声心动图检出的13例HLHS胎儿的超声资料与病理解剖结果对照,分析胎儿超声心动图诊断要点。结果:经病理证实为HLHS 13例,均与超声诊断结果一致,超声诊断正确率100%。13例HLHS患儿中,Ⅰ型2例(15.4%),Ⅱ型5例(38.4%),Ⅲ型2例(15.4%),Ⅳ型4例(30.8%)。超声提示13例均显示左、右心系统比例极端不对称,左心室小、发育不良,右心系统比例增大,主肺动脉内径比例失调,主肺动脉血流方向呈反向。结论:产前胎儿超声心动图作为一种安全、便捷、经济及有效的检查方法,对胎儿左心发育不良综合征的检出具有重要的价值。     

拇指发育不良的特点及相关因素对于疾病分型的影响

目的探讨拇指发育不良的特点及相关因素对于疾病分型的影响。方法回顾性分析2014年1月至2019年9月在北京积水潭医院手外科就诊的63例拇指发育不良患者的病历资料。统计并分析其疾病特点,分别比较不同侧别患者父母年龄的均值、不同侧别及不同分型中合并其他发育缺陷发生率以及不同分型中各影响因素所占的比例。结果男女比例为1.9∶1。Blauth分型:Ⅱ型占7.6%,ⅢA型占8.9%,ⅢB型占36.7%,Ⅳ型占38.0%,Ⅴ型占8.9%。累及双手的患者较右手单侧的患者,其孕时父母的年龄比较,差异有统计学意义(P<0.05)。合并其他畸形者占58.7%,其中心脏畸形占54.1%,同侧肢体其他畸形占32.4%。有阳性家族史占11.1%,母亲孕早期接触放射线占4.8%,孕早期家庭或工作单位装修占19.0%,孕期患有糖尿病占15.9%,既往有流产史占46.0%,保胎史占63.5%,孕早期感冒占20.6%。不同分型中合并其他发育缺陷的发生率比较,差异无统计学意义(P>0.05)。结论拇指发育不良多见于男性,以BlauthⅢ、Ⅳ型为主,可单独发病,也可与其他系统疾病共同出现。遗传、环境、不良孕产经历等因素均可能导致该疾病的发生。     

Risk factors for failed staged palliation after bidirectional Glenn in infants who have undergone stage one palliation

Objective: The bidirectional Glenn procedure (BDG) is a routine intermediary step in single-ventricle palliation. In this study, we examined risk factors for death or transplant and failure to reach Fontan completion after BDG in patients, who had previously undergone stage one palliation (S1P). Methods: All patients at our institution, who underwent BDG following S1P between 2002 and 2009 (n = 194), were included in the analysis. Results: Transplant-free survival through 18 months post BDG was 91%. Univariable competing risk analyses showed atrioventricular valve regurgitation (AVVR) >mild, age ≤3 months at BDG, ventricular dysfunction >mild, and prolonged hospital stay after S1P to be associated with increased risk of death or orthotopic heart transplant. Multivariable competing risk analysis through 5 years of follow-up showed >mild AVVR (hazard ratio (HR) 7.5, 95% confidence interval (CI) 3.0–18.8), prolonged hospitalization after S1P (HR 4.5, 95% CI 1.8–11.5), and age ≤3 months at BDG (HR 6.8, 95% CI 2.3–20.0) to be independent risk factors for death or transplant. Concomitantly, >mild AVVR and age ≤3 months were independently associated with an overall decreased rate of Fontan completion. Conclusions: Pre-BDG AVVR, age ≤3 months at time of BDG, and prolonged hospitalization after S1P are independently associated with decreased successful progression of staged palliation in midterm follow-up after BDG.     

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism

We describe a partial duplication of the chromosome 16 short arm [46,XY,dup(16)(p11.2p13.1)] in an Iranian girl with autism, neurodevelopmental delay, mental retardation, very poor memory, and dysmorphism including sparse hair, upslanting palpebral fissures, long philtrum, micrognathia, hypotonia, small feet and hands, syndactyly of the fingers, and hypoplastic thumbs. The patient now four years old, has a normal twin sister, and the parents are unrelated. The abnormal 16p was originally detected by banding cytogenetic techniques, and was characterized by multicolour banding fluorescence in situ hybridization (MCB). The MCB pattern on the derivative chromosome 16 indicated a direct duplication of the region 16p11.2 to 16p13.1.     

Balloon Atrial Septostomy by a Right Internal Jugular Venous Approach in a Newborn with Hypoplastic Left Heart Syndrome with a Restrictive Atrial Septum

Hypoplastic left heart syndrome with an intact or highly restrictive atrial septum requires urgent decompression of the left atrium. Catheter‐based interventions from the femoral or umbilical veins represent the standard method of atrial decompression. Restrictive atrial septal defects located at the superior portion of the fossa ovalis can be difficult to cross from these access sites. Here, we describe a successful Rashkind balloon atrial septostomy performed from an internal jugular approach.