103例完全性大动脉转位的冠状动脉解剖类型分析

目的:总结103例大动脉转位手术病例及自然死亡病例,就TGA的冠状动脉解剖类型、变异冠状动脉发生率与合并心内畸型的关系等作一分析。方法:103例病例分成两组:A组,室间隔完整(TGA IVS)共54例,B组,伴有室间隔缺损(TGA VSD)共48例。其中86例作了大动脉转换解剖纠治术,术中直视下观察冠状动脉走向,其余17例为未及手术的自然死亡病例,均作尸体解剖。结果:103例中共发现了7种不同的冠状动脉解剖类型,变异冠状动脉的发生率为21.3%(A组为16.7%,B组为26.5%);各种变异冠状动脉中以右冠状窦双支冠状动脉(6.8%)和右冠状窦单支冠状动脉(5.8%)最为多见。结论:本组103例TGA中变异冠状动脉的发生率21.3%,TGA/VSD变异冠状动脉的发生率高于TGA/IVS者。     

自制可调节肺动脉环缩装置对右心室作用实验研究

目的通过对动物右心室作用实验的研究,验证自制可调节肺动脉环缩装置的有效性。方法 12只健康雄性小尾寒羊,5～6个月龄,体质量26～37kg。随机分为实验组和对照组,每组各6只,体质量分别为（29.00±2.78）kg和（28.36±4.24）kg,差异无统计学意义（P=0.722）,从左侧第二肋间进胸,游离肺动脉主干,置入自制可调节肺动脉环缩装置,向球囊内注入0.9%NaCl溶液,逐渐增加右心室压力,进行心室训练,达到训练标准所需时间为9～18d。观察超声下右心室形态、血流动力学及心肌组织病理学变化。结果超声下右心室形态、室间隔位置、游离壁厚度均较训练前发生明显改变;血流动力学结果表明右心室/左心室收缩压力比值大于0.6,达到临床上心室训练的标准;右心室的收缩功能（P〈0.05）和舒张功能（P〈0.001）均得到了增强;病理检查结果右心室游离壁厚度及质量、右心室肥大指数、心肌细胞横径与对照组比较差异存在显著统计学意义（P〈0.001）。结论该装置能够达到肺动脉环缩、训练心室的目的 ,并且可双向调节,使用方便,效果可靠。     

Occurrence of cardiac malformations in relatives of children with transposition of the great arteries

Transposition of the great arteries (TGA) is the most common cyanotic cardiac malformation, representing 5–7% of all cardiac malformations. Previous estimates of the frequency of cardiac malformations in sibs of probands range from 0–1.7%. This study ascertained the frequency of congenital cardiac malformations in relatives of 271 probands with TGA, who were grouped according to the type of TGA present. These include dextro (d-TGA), levo (l-TGA), complex TGA, and asplenia with TGA. In the d-TGA cases there were 369 sibs, one of whom had a cardiac malformation (0.27%). There were 50 sibs in the l-TGA group, with one sib having a cardiac malformation (2.00%). Cardiac malformations were found in 2 of 143 (1.40%) sibs of the complex TGA index cases, and 1 of 50 (2.00%) sibs in the asplenia with TGA group. The overall recurrence risk of cardiac malformations in sibs of TGA probands was 0.82%. Cardiac malformations in parents of probands were found in 0.29% of d-TGA, 0% of l-TGA, 1.54% of complex TGA, and 0% of asplenia with TGA, giving an overall parental occurrence of 0.55%. This is the first study to provide information on the different types of TGA in evaluating sib occurrence. It provides necessary genetic counseling information for families of probands with TGA. © 1996 Wiley-Liss, Inc.     

鋅指转录因子ZIC3在内脏异位中的研究现状及进展

内脏异位是由于左右非对称性发育异常所致,常与胸腹腔器官的异常偏侧化有关。心脏经常受累,且心脏受累的严重程度通常决定其预后效果。内脏异位患者有特征性的心血管畸形、内脏器官的异常排列以及中线结构发育畸形。在内脏异位患者中第一个被发现有突变的基因是编码锌指转录因子的ZIC3。很多研究证实,ZIC3突变可导致X连锁内脏异位,而且在孤立性先心病中也发现了ZIC3的突变。至今,在内脏异位患者中发现有13个ZIC3突变,其中包括无义突变、错义突变、沉默突变、移码突变以及易位突变等。然而,ZIC3基因在内脏异位,特别是伴复杂先心病中的致病机理仍不是很清楚。本文就ZIC3结构、作用、突变以及其在内脏异位伴先心病中的研究现状及存在的问题做一综述。     

Report of a new patient with transposition of the great arteries with deletion of 22q11.2

We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild. Am. J. Med. Genet. 78:317–318, 1998. © 1998 Wiley-Liss, Inc.     

完全性大动脉错位动脉转位术后新主肺动脉发育的随访

目的报道应用动脉转位术（ASO）治疗完全性大动脉错位（TGA）术后超声心动图的随访结果,评价TGA术后主、肺动脉的发育情况。方法以2001年3月至2007年3月于复旦大学附属儿科医院心血管中心实施ASO治疗TGA术后存活患儿作为研究对象,于2008年8～9月进行随访,行超声心动图检查,测定新主动脉根部内径、新主动脉瓣环内径、新肺动脉内径和新肺动脉瓣环内径,获取的数据与正常参考值做比较。结果研究期间ASO治疗TGA患儿共72例,术中死亡6／72例（8．3％）,存活率为91．7％。失访10／66例,有效数据56例,其中室间隔完整的完全性TGA（TGA／IVS）32例,完全性TGA合并室间隔缺损（TGA／VSD）24例。随访距手术18—168（86．46±23．51）个月。新主动脉根部内径为（16．97±2．71）mm（t=6．936,P〈0．001）,12／56例（21．4％）〉正常参考值90％CI的上限,44／56例（78．6％）在正常参考值90％CI内,平均Z值为1．10±0．70。新主动脉瓣环内径为（16．27±2．38）mm（t=4．52,P〈0．001）,56例均在正常参考值90％CI内,平均Z值为0．66±0．65。新肺动脉内径为（14．29±1．92）mm（t=-3．2,P=0．005）,40／56例（71．4％）在正常参考值90％CI内,16／56例（28．6％）〈正常参考值90％CI的下限,平均Z值为-0．95±1．33。新肺动脉瓣环内径为（14．00±1．92）mm（t=0．132,P=0．897）,42／56例（75．0％）在正常参考值90％CI内,14／56例（25．O％）〈正常参考值90％CI的下限,平均Z值为0．05±1．85。16／56例（28．6％）存有主动脉瓣轻度反流,均为TGA／VSD病例,平均随访（46．0±22．2）个月;40／56例（71．4％）未见主动脉瓣反流,平均随访（46．8±25．3）个月,两组随访时间差异无统计学意义（P=0．899）。随访中未见主动脉狭窄病例。肺动脉瓣上狭窄7／56例（12．5％）,2／56例（3．6％）为轻度狭窄,5／56例（8．9％）为极轻度狭窄。结论目前在复旦大学附属儿科医院心血管中心开展ASO治疗TGA术后新主动脉根部和瓣环内径均有所扩张,新肺动脉根部内径有所缩减,但其瓣环发育良好。主动脉瓣反流常见于TGA／VSD病例,但其反流程度较轻。肺动脉瓣上狭窄是TGA术后常见的并发症,但大多数病例狭窄程度极轻。     

Changes in mass of the right ventricle and its RNA content during regression of hypertrophy

Noninbred male rats weighing 250–300 g were used. Adaptation to high-altitude hypoxia was produced by keeping the animals once a week for 5 h in a pressure chamber at an altitude of 6000 m. The degree of hypertrophy of the right ventricle and its RNA content were studied after 20 days of adaptation and also 2, 10, 20, and 40 days after the end of exposure to hypoxia. The mass of the right ventricle and its RNA concentration and content were significantly increased 20 days after the beginning of adaptation. After the end of exposure to hypoxia half of the increase in mass of the right ventricle was lost during the next 10 days and half of the increase in RNA during the next 2 days. Forty days after the end of exposure to hypoxia the mass of the right ventricle and its RNA content in the adapted animals were indistinguishable from those in the controls.Laboratory of Pathophysiology of the Heart, Institute of General Pathology and Pathological Physiology, Academy of Medical Sciences of the USSR, Moscow. (Presented by Academician of the Academy of Medical Sciences of the USSR A. M. Chernukh.) Translated from Byulleten' Éksperimental'noi Biologii i Meditsiny, Vol. 82, No. 12, pp. 1421–1422, December, 1976.     

3D morphometric analysis of the arterial switch operation using in vivo MRI data

The arterial switch operation (ASO) is widely used nowadays as the surgical strategy of choice to repair transposition of the great arteries (TGA). Residual morphological and geometrical abnormalities of the aorta, pulmonary arteries and coronary arteries, however, have not been fully studied in a three‐dimensional (3D) domain. These morphometric complications might have implications on long‐term outcomes of ASO patients, hence the need to explore them in detail and study them with reference to healthy controls of comparable age and body surface area. These anatomical characteristics were examined using 3D patient‐specific anatomical models reconstructed from cardiovascular magnetic resonance (CMR) images of 20 ASO patients (mean age 14.4 ± 2.4 years, 16 males and 4 females) compared with healthy controls (mean age 15.2 ± 2.0 years, 17 males and 3 females). It was found that the aorta, pulmonary arteries and re‐implanted coronary arteries of ASO patients were significantly different morphologically and geometrically to those of healthy controls. In particular, the aortic root was dilated, with abnormal 3D angulation and additional acute angulation of the curvature of the aortic arch in the ASO group compared with controls. This could theoretically impinge on aortic flow profiles and physiological stresses, which can act as a primer for the development of early atherosclerotic disease in the ASO population. Clin. Anat. 27:1212–1222, 2014. © 2014 Wiley Periodicals, Inc.     

Acute effects of pulmonary artery banding in sheep on right ventricle pressure–volume relations: relevance to the arterial switch operation

The first stage of the two‐stage arterial switch operation (ASO) for transposition of the great arteries (TGA) is associated with depressed ventricular function and an unstable immediate post‐operative course. It is unclear if this is because of the acute increase in afterload of the thin‐walled, low‐pressure ventricle by pulmonary artery banding (PAB). To determine the acute effects of afterload increase on the contractile function of thin‐walled ventricles, we studied the right ventricular pressure–volume relations of seven sheep before and 30 min after PAB using combined pressure–conductance catheters during inflow reduction. Load independent indices of systolic and diastolic performance were derived from these relations. Pulmonary artery banding increased the mean ratio between right and left ventricular systolic pressure from 0.34 ± 0.05 to 0.64 ± 0.10, P < 0.05 (mean ± SD). There were no significant changes in heart rate and end‐systolic volume after banding although there was an incremental trend in the end‐diastolic volume and stroke volume. Right ventricular output (530 ± 163–713 ± 295 mL min^–1, P < 0.05), slope of the end‐systolic pressure–volume relation (ESPVR) (3.7 ± 2.8–10.0 ± 4.8 mmHg mL^–1, P < 0.05) and slope of the pre‐load recruitable stroke work (PRSW) relation (9.6 ± 1.8–15.0 ± 3.1 mmHg, P < 0.05) were significantly increased indicating improved contractile state after banding. The diastolic function curve was unchanged after banding although the right ventricle (RV) was operating at a larger end‐diastolic volume. Hence, the RV of sheep responded to acute pressure overload by demonstrating enhanced contractility and evidence of the Frank–Starling mechanism without associated change in right ventricular diastolic performance.     

Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review

Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase (mHS) deficiency is a very rare autosomal recessive inborn error of ketone body synthesis and presents with hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, and hepatomegaly with fatty liver precipitated by catabolic stress. We report acute presentation of two patients from unrelated two families with novel homozygous c.862C>T and c.725‐2A>C mutations, respectively, in HMGCS2 gene. Affected patients had severe hypoketotic hypoglycemia, lethargy, encephalopathy, severe metabolic and lactic acidosis and hepatomegaly after infections. Surprisingly, molecular screening of the second family showed more affected patients without clinical findings. These cases expand the clinic spectrum of this extremely rare disease.     

Submandibular gland morphogenesis: Stage‐specific expression of TGF‐α/EGF,IGF, TGF‐β, TNF,and IL‐6 signal transduction in normal embryonic mice and the phenotypic effects of TGF‐β2, TGF‐β3, and EGF‐r null mutations

Branching morphogenesis of the mouse submandibular gland (SMG) is dependent on cell‐cell conversations between and within epithelium and mesenchyme. Such conversations are typically mediated in other branching organs (lung, mammary glands, etc.) by hormones, growth factors, cytokines, and the like in such a way as to translate endocrine, autocrine, and paracrine signals into specific gene responses regulating cell division, apoptosis, and histodifferentiation. We report here the protein expression in embryonic SMGs of four signal transduction pathways: TGF‐α/EGF/EGF‐R; IGF‐II/IGF‐IR/IGF‐IIR; TGF‐βs and cognate receptors; TNF, IL‐6, and cognate receptors. Their in vivo spatiotemporal expression is correlated with specific stages of progressive SMG development and particular patterns of cell proliferation, apoptosis, and mucin expression. Functional necessity regarding several of these pathways was assessed in mice with relevant null mutations (TGF‐β2, TGF‐β₃, EGF‐R). Among many observations, the following seem of particular importance: (1) TGF‐α and EGF‐R, but not EGF, are found in the Initial and Pseudoglandular Stages of SMG development; (2) ductal and presumptive acini lumena formation was associated with apoptosis and TNF/TNF‐R1 signalling; (3) TGF‐β2 and TGF‐β3 null mice have normal SMG phenotypes, suggesting the presence of other pathways of mitostasis; (4) EGF‐R null mice displayed an abnormal SMG phenotype consisting of decreased branching. These and other findings provide insight into the design of future functional studies. Anat Rec 256:252–268, 1999. © 1999 Wiley‐Liss, Inc.