Fetal echocardiography. VIII. Aortic root dilatation--a marker for tetralogy of Fallot

Tetralogy of Fallot has increased in incidence during the past decade. Although abnormalities of the four-chamber screening examination of the fetal heart identifies structural anomalies associated with semilunar and atrioventricular valve hypoplasias, the anomalies associated with tetralogy of Fallot are not as readily identifiable from the four-chamber view alone. This study was designed to determine whether aortic root dilatation, commonly observed in the newborn with tetralogy of Fallot, is a marker for tetralogy of Fallot diagnosed in utero. In 45 normal (control) fetuses the biparietal diameter, head circumference, abdominal circumference, and femur length were measured and M-mode measurements were made of the biventricular outer dimension and aortic root dimension. The aortic root dimension from seven fetuses (18, 19, 20, 23, 32, 33, and 34 weeks' gestation) with tetralogy of Fallot was increased in dimension when compared with cardiac (biventricular outer dimension) and noncardiac biparietal diameter, head and abdomen circumferences, and femur length parameters. In conclusion, incorporation of aortic root imaging with the four-chamber view of the fetal heart during a routine screening examination allows for identification of fetuses with tetralogy of Fallot.     

Prenatal diagnosis of tetralogy of Fallot with pulmonary atresia using: Fetal Intelligent Navigation Echocardiography (FINE)

Tetralogy of Fallot with pulmonary atresia, a severe form of tetralogy of Fallot, is characterized by the absence of flow from the right ventricle to the pulmonary arteries. This cardiac abnormality is challenging and complex due to its many different anatomic variants. The main source of variability is the pulmonary artery anatomy, ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries replaced by major aorto-pulmonary collateral arteries (MAPCAs) that provide all of the pulmonary blood flow. Since the four-chamber view is usually normal on prenatal sonography, the diagnosis may be missed unless additional cardiac views are studied. Fetal Intelligent Navigation Echocardiography (FINE) is a novel method developed recently that allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying "intelligent navigation" technology to spatiotemporal image correlation volume datasets. We report herein for the first time, two different cases of tetralogy of Fallot with pulmonary atresia having variable sources of pulmonary blood flow in which the prenatal diagnosis was made successfully using the FINE method. Virtual Intelligent Sonographer Assistance (VIS-Assistance^®) and automatic labeling (both features of FINE) were very helpful in making such diagnosis.     

Down syndrome, achondroplasia and tetralogy of Fallot

This paper describes a female infant with achondroplasia, Down syndrome and tetralogy of Fallot. Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively. The clinical course was complicated by pulmonary hypoplasia and subsequent intractable respiratory failure secondary to the combination of congenital conditions, which resulted in the patient's death at 5 months.     

Pregnancy and delivery following operation for tetralogy of Fallot

While no conclusions can be drawn from a series of three case reports, it is nevertheless worthy of note that pregnancy may not be entirely contraindicated in certain types of congenital cardiac anomalies amenable to surgery, despite a moderate calculated maternal and fetal risk.     

Hypertrichosis, Fallot tetralogy, growth and developmental delay

We report a female patient with a unique pattern of pre- and postnatal growth deficiency, tetralogy of Fallot, very long eyelashes (trichomegaly), progressive and generalized hypertrichosis lanuginosa, brain atrophy with epilepsy, and puffy hands and feet. This appears to be a "new" entity within the group of syndromal hypertrichoses, possibly pathogenetically related to, but clinically distinct from Ambras or Oliver-McFarlane syndromes.     

Prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve

Multiple indications for fetal echocardiography have been proposed that includes polyhydramnios. In this report, the prenatal diagnosis of tetralogy of Fallot with absent pulmonary valve and absent ductus arteriosus was made in a patient presenting with polyhydramnios. Tracheobronchial and esophageal compression secondary to gross dilation of the pulmonary artery is considered the etiology of the polyhydramnios, and in the case of this structural defect is an indicator of poor prognosis.     

Ludwig's angina following herpetic gingivostomatitis in a toddler with tetralogy of Fallot.

Ludwig's angina is a rare but potentially lethal cellulitis of the submandibular space that occurs most often in young adults with predisposing odontogenic infection. In contrast to adult cases, most children with Ludwig's angina have no initiating factor. We report a case of Ludwig's angina in a 15-month-old boy which developed after an episode of herpetic gingivostomatitis. Under close monitoring of respiratory status, the condition was successfully managed with antibiotic treatment. This case illustrates that Ludwig's angina can develop in association with herpetic gingivostomatitis, which is a common and usually self-limited disease in pediatric patients. Prompt recognition and aggressive management of this rare and severe secondary bacterial infection are the keys to avoiding unnecessary morbidity and mortality.     

Transatrial-transpulmonary repair of tetralogy of Fallot: extensive infundibular septum resection.

Twenty-seven patients with tetralogy of Fallot underwent total correction during the period from February 1988 through October 1989. Their ages ranged from 11 months to 12 years (mean 3.3 +/- 4.9 years). For 11 patients, the repair was made via the conventional transventricular approach and a partial resection of the infundibular septum. On the other 16 patients, a transatrial-transpulmonary approach was used with total resection of the anterior deviated infundibular septum, with or without a miniventriculotomy incision (1-10 mm). The exposure of the ventricular septal defect (VSD) through the right atrium, and the right ventricular outflow tract (RVOT) through the pulmonary artery in patients with tetralogy of Fallot was excellent. There were no significant differences between transatrial-transpulmonary repair and transventricular repair of the tetralogy of Fallot with respect to pulmonary artery (PA) index (273.2 +/- 36.6 versus 249.9 +/- 63.2 mm2/BSA) or the postoperative ratio of right ventricle/left ventricle (RV/LV) systolic pressure (0.55 +/- 0.16 versus 0.61 +/- 0.17). Postoperative intensive care was simple and uncomplicated, with a significantly lower catecholamine demand, less bleeding, fewer blood transfusions, and shorter stays in the cardiac Intensive Care Unit (ICU). There was no mortality in this series. This method of repair can be successfully accomplished in most patients with tetralogy of Fallot, with resultant preservation of right ventricular function (intact right ventricle).     

The corse of pregnancy and delivery in patients with surgicaly corrected tetralogy of Fallot

Twenty-eight pregnancies in 16 patients with surgically corrected tetralogy of Fallot between 1997 and 2002 at the SBALAG "Maichin dom", Sofia, were reviewed. Most of the patients were well and asymptomatic after surgery, excluding one patient who was functional class III. The patients had a total of twenty-one successful pregnancies and deliveries. There were seven abortions (33%) and two small-for-date babies (12%). None of the infants had any cardiac anomalies. The pregnancies were relatively well tolerated and there were no life-threatening cardiac complications. For a patient with some residual abnormalities after surgical correction of tetralogy of Fallot, it is important to reassess the cardiac state before pregnancy and, if once pregnant, to anticipate the possible occurrence of complications during labor. Compared to the general obstetric population, more women in the study group underwent instrumental vaginal delivery and probably best option was elective ventouse or forceps. In conclusion despite potential difficulties and complications associated with corrected tetralogy of Fallot, careful cardiac and obstetric management resulted in good maternal and fetal outcomes.     

Left and right ventricular function in fetal tetralogy of Fallot with absent pulmonary valve

Tetralogy of Fallot with absent pulmonary valve (TOF/APV) is a rare form of congenital heart disease with a high risk of perinatal mortality, particularly when diagnosed before birth. We aimed to assess whether global left and right ventricular function in fetal TOF/APV, using the Tei index, correlate with outcome. We reviewed the fetal echocardiogram and clinical outcome of eight fetuses diagnosed with TOF/APV. Of the eight cases, four developed cardiovascular compromise, leading to intrauterine death in two fetuses and neonatal demise in two fetuses, and four fetuses survived the neonatal period. The right ventricular (RV) Tei index was significantly greater and the left ventricular (LV) Tei index tended to be greater in nonsurvivors compared with survivors with TOF/APV (RV Tei, 0.90 +/- 0.17 versus 0.30 +/- 0.28, p < 0.05; LV Tei, 0.97 +/- 0.42 versus 0.54 +/- 0.21). The global LV and RV function can be affected in TOF/APV. Furthermore, more severe pulmonary insufficiency and worse biventricular function as assessed by Tei index likely contribute to the high perinatal mortality associated with this disease.     

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricular canal defect tetralogy of Fallot. All children underwent complete cardiovascular, clinical phenotypic and genetic evaluation. A genetic syndrome or extracardiac anomalies were found in 56 patients (87.5%). Down syndrome (43 patients, 67.2%) was the most frequent genetic diagnosis. Other syndromes were 8p deletion, trisomy 13, duplication 5p, cranio-cerebello-cardiac syndrome, Cantrell syndrome, CHARGE association, VACTERL association, and DiGeorge syndrome related to maternal diabetes. No patients in our series had 22q11 deletion. Tetralogy of Fallot with extreme dextroposition of the aorta was found in seven patients (only one with Down syndrome). Additional cardiac malformations were present in 23 patients (only 11 with Down syndrome). The association between atrioventricular canal defect and tetralogy of Fallot represents a cardiac phenotype with strong genetic characteristics. For this reason, a careful genetic examination is required. Our study confirms the high prevalence of Down syndrome, but also reveals a significant genetic heterogeneity. Additional cardiac defects are prevalent in patients without Down syndrome.     

Prenatal demonstration of major aortopulmonary collateral arteries with tetralogy of Fallot and pulmonary atresia

Major aortopulmonary collateral arteries were prenatally demonstrated in a case of tetralogy of Fallot and pulmonary atresia (TOF-PA). Color Doppler and pulsed Doppler ultrasonography revealed abnormal arteries arising directly from the descending aorta. An aortogram after birth confirmed two collateral arteries arising from the descending aorta and one from the left subclavian artery. Fetal echocardiography was essential for the diagnosis of TOF-PA, but further examination was needed to find collateral arteries, which provided useful information for management after birth.     

法洛四联症根治术后急性肺损伤的治疗

目的 分析法洛四联症(TOF)根治术后急性肺损伤(ALI)的原因，总结治疗体会。 方法 2003年7月至2004年6月，上海第二医科大学附属新华医院上海儿童医学中心心胸外科共行TOF根治术161例，发生ALI 5例。记录5例ALI患儿术前经皮氧饱和度(SpO2)、红细胞压积比(HCT)、McGoon比值、肺动脉指数(PAI)和手术、体外循环(CPB)资料，以及ALI发生时间、ALI发生后各项治疗措施、各治疗阶段肺功能指标、计算其肺损伤分数。 结果 5例ALI患儿，年龄7~24(13.8±3.1)个月，体重7.0~9.5(8.2±0.5)kg，均在静吸复合麻醉CPB下进行，术毕给予改良超滤，平均CPB时间(67.2±5.9)min，主动脉阻断时间(43.6±2.4)min，ALI发生率为3.1%，发生时间为术后8~60h，死亡2例。5例均施行腹膜透析术(PD)，2例给予一氧化氮吸入，1例给予肺表面活性物质替代治疗。各治疗阶段肺功能指标逐步改善，至治疗后期，肺功能指标在统计学上有显著性差异(P<0.05)。 结论 TOF术后ALI治疗困难，合理机械通气、尽早维持体液平衡、改善肺通气和氧合功能有利于及时阻断低氧酸中毒导致的恶性循环。 Abstract Objective To analyse the reasons of acute lung injury (ALI) after the surgical correction of tetralogy of Fallot (TOF) and summarize the postoperative treatment skill.Methods There were 161 cases of patients with TOF who underwent corrective repair operation in the Department of Cardiovascular Surgery of Xinhua Hospital/ Shanghai Children’s Medical Center from Jul.2003 to Jun.2004,in which there were 5 patients who developed ALI after the surgical correction of TOF.The mean age was 13.8±3.06 months (7~24 months) and the mean body weight was (8.20±0.46)kg (7~9.5kg).Before operation,their mean SpO2 was (72.8±2.2)% (67%~80%),mean HCT was (49.0±5.5)%,mean McGoon ratio was (1.27±0.05) and mean PAI was (136.0±16.8)mm2/m2.The total cardiopulmonary bypass (CPB) time and aortic clamp time were (67.2±3.9) min and (43.6±2.4) min,respectively.The modified ultrafiltration was used throughout the CPB.The treatment and the blood analysis were recorded when the ALI developed.The parameters of pulmonary function and lung injury score were calculated.Results ALI developed (30.0±9.7) hrs after the operation and the incidence of ALI after the surgical correction of TOF was 3.1%.Two cases died within 48 hrs.Peritoneal dialysis (PD) was performed on all the cases.Meanwhile,2 cases were given inhaled nitric oxide (NO) and 1 case was given pulmonary surfactant (PS).The parameters of pulmonary function were improved step by step and the differences were statistically significant at the latest stage of treatment (P<0.05).Conclusion The treatment of ALI after surgical correction of TOF includes reasonable mechanical ventilation and maintaining the balance of fluid.Inhaling NO and using PS will be benefitial to improve the pulmonary function and to stop the vicious circle which results in the hypoxemia and refractory acidosis. Key wordsTetralogy of Fallot;Acute lung injury;Cardiopulmonary bypass     

Fetal cardiovascular physiology and therapy.

The ability to diagnose fetal cardiovascular malformations prenatally has been established during the past 14 years. This has naturally led to an increased interest in the possibility of providing timely therapy in the neonatal period and has raised the prospects for prenatal intervention. Before medical, catheter, and/or surgical interventions are performed, however, it is important to understand the normal and abnormal physiology of the fetal cardiovascular system. Significant insights have been gained into human fetal cardiovascular physiology utilizing data previously gleaned from fetal lamb models and correlating anatomic, pulsed Doppler, and color flow Doppler observations that have been made echocardiographically during the second and third trimesters of human fetal cardiac development. Regional blood flow distribution studies in the human have demonstrated a relative right-ventricular volume dominance in the human fetus of a somewhat lesser magnitude than previously described in the lamb. Observations of ventricular filling characteristics suggest a relative paucity of diastolic 'reserve' in the human fetal heart implying a relative sensitivity to acute volume overloading. The human fetal heart, like that of the fetal lamb, also appears to have a relatively modest amount of 'systolic reserve', making the heart particularly susceptible to acute ventricular afterload. Further studies have demonstrated the ability to recognize altered intrauterine shunt flow across the fetal ductus arteriosus and foramen ovale. As predicted in fetal lamb models, alterations in shunt flow accompany major malformation complexes including ventricular hypoplasia. Studies to date suggest that attempts at surgical intervention should be made very cautiously due to the inability to ascertain whether altered shunt flow patterns precede (cause?) or follow the development of structural abnormalities.     

Fetal cardiovascular response to large placental chorioangiomas

A large placental chorioangioma is a relatively rare condition, which in 50% of all cases will lead to maternal and fetal complications. Since chorioangiomas are often associated with significant arterio-venous shunting within the placenta, several fetal hemodynamic compensatory mechanisms are initiated. Ultrasound and color Doppler flow mapping are important for the prenatal diagnosis of chorioangiomas, as an early prenatal diagnosis is crucial to minimize the risks for fetal well-being. Close surveillance of pregnancy and pregnancy termination by cesarean section at the earliest signs of fetal cardiac decompensation are indicated to reduce fetal and neonatal complications. Novel intrauterine treatment options include intravascular transfusion, fetoscopic devascularization, microcoil embolization, and intravascular injection of absolute alcohol.     

Isolation of the left subclavian artery in a child with tetralogy of Fallot and right aortic arch.

Isolation of the subclavian artery is a very rare vascular anomaly in which the subclavian artery does not communicate with the aortic arch but instead is connected to the pulmonary artery by the ductus arteriosus. The subclavian steal phenomenon from the vertebrobasilar system into the pulmonary and subclavian arteries is usually persistent. We report an 18-month-old boy with an isolated left subclavian artery associated with tetralogy of Fallot and right aortic arch. Subclavian steal phenomenon in this patient resulted in symptoms of diminished pulse and blood pressure of the left arm. He underwent total correction of tetralogy of Fallot and ligation of the ductus arteriosus without reimplantation of the left subclavian artery. There was no substantial blood pressure difference between the upper limbs after the operation. In a patient with right aortic arch and diminished blood pressure or pulse in the left arm, isolation of the left subclavian artery should be included in the differential diagnosis.