Practice and Safety of Static Balloon Atrial Septostomy Based on a Nationwide Registry Data.

BACKGROUND: Balloon atrial septostomy (BAS) is an essential catheterization procedure for congenital heart lesions. Recently, a balloon catheter for static BAS was approved for the first time in Japan as an alternative to the conventional pull-through BAS. Despite the expected increase in the use of static BAS, reports on its safety are scarce worldwide.Methods and Results: Data on static and pull-through BAS registered in a national registry between 2016 and 2018 were collected. During the study period, 247 sessions of static BAS and 588 sessions of pull-through BAS were performed on a total of 674 patients. Patients who underwent static BAS were older (P<0.001). The incidence of serious adverse events (4.3% vs. 0.9%, P=0.03) and the overall incidence of adverse events (8.1% vs. 3.2%, P=0.03) were higher in static BAS than in pull-through BAS. Among patients who underwent static BAS, the risk factor for adverse events was a body weight <3 kg at the time of the procedure (odds ratio: 4.3 [confidence interval: 1.7-11], P=0.003). CONCLUSIONS: This nationwide study revealed differences in patient background between static and pull-through BAS, as well as a higher incidence of adverse events related to static BAS. Patients weighing <3 kg are at high risk for adverse events after static BAS and may require surgical and circulatory support backup.

Juxtaposition of the Atrial Appendages: A Large Echocardiographic Series.

Juxtaposition of the atrial appendages is known to occur in specific congenital heart lesions. Recognition of these variants is critical in balloon atrial septostomy and atrial switch operations. There remains little clinical data on the prevalence and associations of these lesions. This is the largest echocardiographic study of juxtaposition of the atrial appendages. This is a retrospective study using the Mt. Sinai echocardiogram database (EchoLAN), which contains echocardiogram reports performed or reviewed at Mt. Sinai Hospital (New York, NY) between 1992 and 2019. Each report was reviewed for associated intracardiac and extracardiac anomalies and the prevalence of juxtaposed atrial appendage among specific diagnosis, including tricuspid atresia, transposition of the great arteries, and double outlet right ventricle, was calculated. Descriptive and analytical statistics were performed as applicable, including Fisher's exact test, with p value < 0.05 considered statistically significant. Forty-nine patients had juxtaposed atrial appendages (1.2/1000 patients): Thirty-eight had LJRAA (0.9 per 1000 patients) and eleven had RJLAA (0.3 per 1000 patients). LJRAA was seen in 22% of tricuspid atresia, 6% of d-TGA, 1% of l-TGA, and 5% of DORV. RJLAA was seen in 2% of DORV, and none of the other lesions. Of associated lesions, dextrocardia, mesocardia, transposition, tricuspid atresia, double inlet left ventricle, and pulmonary valve stenosis were more likely to be present in LJRAA, while bicuspid aortic valve and left ventricular hypoplasia were more likely to be present in RJLAA. This study reaffirms our understanding of juxtaposition of the atrial appendages, its prevalence, and clinical importance.

Long-term outcomes of the arterial switch operation.

OBJECTIVES: The arterial switch operation (ASO) has excellent early outcomes in the modern era. We sought to determine the long-term outcomes in patients who underwent an ASO at a single institution. METHODS: Patients who underwent an ASO between 1983 and 2015 were identified from the hospital database and retrospectively reviewed using hospital records. RESULTS: From 1983 to 2015, 844 patients with a biventricular circulation underwent an ASO. There were 28 (3.3%, 28/844) early deaths. Follow-up was available for 94% (729/774) of local patients after hospital discharge. Median follow-up was 15 years (interquartile range, 8-20 years). There were 187 (26%, 187/729) patients with more than 20 years of follow-up and 95 (13%, 95/729) patients with more than 25 years of follow-up. Overall survival was 95% (95% confidence interval [CI], 94%-97%) at 10 and 25 years after the ASO. At 25 years after ASO, freedom from overall reintervention was 77% (95% CI, 73%-81%), freedom from reoperation on the neoaortic root or neoaortic valve was 92% (95% CI, 88%-95%), and freedom from coronary reoperation was 99% (95% CI, 98%-99.7%). Left ventricular (LV) systolic function was normal in 595 of 609 (98%) of patients who had LV function quantified at latest follow-up. Of the 95 patients with more than 25 years of follow-up after ASO, 6 (6.3%) had at least moderate neoaortic valve regurgitation (AR) and 8 (8.4%) had undergone replacement of the neoaortic valve. CONCLUSIONS: Overall, survivors of ASO have excellent late survival and normal LV systolic function into adult life. However, AR and reoperation on the neoaortic valve remains an issue for older patients.

Geographic Distribution of Congenital Heart Disease: A Single Surgical Center Experience.

OBJECTIVE: To determine presence of spatial clustering or dispersion of pre and postnatally detected hypoplastic left heart syndrome (HLHS) and d-transposition of the great arteries (TGA) cases. STUDY DESIGN: This retrospective study examined all patients with a prenatal or postnatal diagnosis of HLHS or TGA who had an initial visit or hospitalization at our tertiary care center over a 5-year period from 2012 to 2016 (n = 105). Using geographic information systems software, the nearest neighbor ratio (NNR) tool was used to determine whether statistically significant clustering or dispersion occurred. RESULTS: Geographic clustering was observed among prenatally diagnosed pooled cases of HLHS and TGA and all total cases (NNR = 0.73 and 0.66, respectively), but not postnatally detected cases (NNR = 1.08). Notably, there was significant dispersion of postnatally detected TGA cases (NNR = 1.22) There was no pattern for prenatally detected TGA or HLHS when analyzed individually. CONCLUSIONS: The spatial distribution of HLHS and TGA is not random; these conditions occur in geographic clusters. Clustering of all patients in the study population and dispersion of postnatal diagnosis of TGA represent opportunities for improved delivery of fetal cardiac care.

Long-Term Survival and Freedom From Coronary Artery Reintervention After Arterial Switch Operation for Transposition of the Great Arteries: A Population-Based Nationwide Study.

Background The aim of this study was to evaluate long-term survival and freedom from coronary artery reintervention after the arterial switch operation (ASO). Methods and Results This single-center nationwide retrospective study included consecutive children who underwent ASO between 1990 and 2016 (n=605). Long-term outcomes were obtained by cross-mapping individual data with the National Death Registry and the National Registry of Cardiovascular Interventions for adults. A control group was randomly retrieved at a 1:10 ratio from the National Birth and Death Registries. Early mortality was 3.3% and late mortality was 1.7% during a median follow-up of 10 (interquartile range, 5-16) years. The probability of overall survival at 20 years after ASO was 94.9% compared with 99.5% in the background population (hazard ratio [HR] 15.6; 95% CI, 8.9-27.5, P<0.001). Independent multivariable predictors of worse survival were an intramural coronary artery (HR, 5.2; 95% CI, 1.8-15.2, P=0.002) and period of ASO 1990 to 1999 (HR, 4.6; 95% CI, 1.5-13.6, P<0.001). Fourteen patients (2.3%) required 16 coronary artery reoperations. Freedom from coronary artery reintervention at 20 years after ASO was 96%. The only independent multivariable predictor associated with a higher hazard for coronary artery reintervention was an intramural coronary artery (HR, 33.9; 95% CI, 11.8-97.5, P<0.001). Conclusions Long-term survival after ASO is excellent. Coronary artery reinterventions are rare. An intramural coronary artery was an independent predictor associated with a higher risk for coronary artery reintervention and death, regardless of the surgical period.

Impact of Socioeconomic Status, Race and Ethnicity, and Geography on Prenatal Detection of Hypoplastic Left Heart Syndrome and Transposition of the Great Arteries.

BACKGROUND: Prenatal detection (PND) has benefits for infants with hypoplastic left heart syndrome (HLHS) and transposition of the great arteries (TGA), but associations between sociodemographic and geographic factors with PND have not been sufficiently explored. This study evaluated whether socioeconomic quartile (SEQ), public insurance, race and ethnicity, rural residence, and distance of residence (distance and driving time from a cardiac surgical center) are associated with the PND or timing of PND, with a secondary aim to analyze differences between the United States and Canada. METHODS: In this retrospective cohort study, fetuses and infants <2 months of age with HLHS or TGA admitted between 2012 and 2016 to participating Fetal Heart Society Research Collaborative institutions in the United States and Canada were included. SEQ, rural residence, and distance of residence were derived using maternal census tract from the maternal address at first visit. Subjects were assigned a SEQ z score using the neighborhood summary score or Canadian Chan index and separated into quartiles. Insurance type and self-reported race and ethnicity were obtained from medical charts. We evaluated associations among SEQ, insurance type, race and ethnicity, rural residence, and distance of residence with PND of HLHS and TGA (aggregate and individually) using bivariate analysis with adjusted associations for confounding variables and cluster analysis for centers. RESULTS: Data on 1862 subjects (HLHS: n=1171, 92% PND; TGA: n=691, 58% PND) were submitted by 21 centers (19 in the United States). In the United States, lower SEQ was associated with lower PND in HLHS and TGA, with the strongest association in the lower SEQ of pregnancies with fetal TGA (quartile 1, 0.78 [95% CI, 0.64-0.85], quartile 2, 0.77 [95% CI, 0.64-0.93], quartile 3, 0.83 [95% CI, 0.69-1.00], quartile 4, reference). Hispanic ethnicity (relative risk, 0.85 [95% CI, 0.72-0.99]) and rural residence (relative risk, 0.78 [95% CI, 0.64-0.95]) were also associated with lower PND in TGA. Lower SEQ was associated with later PND overall; in the United States, rural residence and public insurance were also associated with later PND. CONCLUSIONS: We demonstrate that lower SEQ, Hispanic ethnicity, and rural residence are associated with decreased PND for TGA, with lower SEQ also being associated with decreased PND for HLHS. Future work to increase PND should be considered in these specific populations.

Pregnancy Outcomes in Women After Arterial Switch Operation for Transposition of the Great Arteries: Results From ROPAC (Registry of Pregnancy and Cardiac Disease) of the European Society of Cardiology EURObservational Research Programme.

Background In the past 3 decades, the arterial switch procedure has replaced the atrial switch procedure as treatment of choice for transposition of the great arteries. Although survival is superior after the arterial switch procedure, data on pregnancy outcomes are scarce and transposition of the great arteries after arterial switch is not yet included in the modified World Health Organization classification of maternal cardiovascular risk. Methods and Results The ROPAC (Registry of Pregnancy and Cardiac disease) is an international prospective registry of pregnant women with cardiac disease, part of the European Society of Cardiology EURObservational Research Programme. Pregnancy outcomes in all women after an arterial switch procedure for transposition of the great arteries are described. The primary end point was a major adverse cardiovascular event, defined as combined end point of maternal death, supraventricular or ventricular arrhythmias requiring treatment, heart failure, aortic dissection, endocarditis, ischemic coronary events, and thromboembolic events. Altogether, 41 pregnant women (mean age, 26.7±3.9 years) were included, and there was no maternal mortality. A major adverse cardiovascular event occurred in 2 women (4.9%): heart failure in one (2.4%) and ventricular tachycardia in another (2.4%). One woman experienced fetal loss, whereas no neonatal mortality was observed. Conclusions Women after an arterial switch procedure for transposition of the great arteries tolerate pregnancy well, with a favorable maternal and fetal outcome. During counseling, most women should be reassured that the risk of pregnancy is low. Classification as modified World Health Organization risk class II seems appropriate.

Risk factors for transposition of the great arteries in Saudi population.

OBJECTIVES: To assess potential risk factors and their effect on the development of transposition of the great arteries (TGA). Methods: A retrospective case-control study of all patients diagnosed with TGA between 1999 to 2016 at King Abdulaziz Medical City, Riyadh, Saudi Arabia. Age and gender-matched controls were selected. Risk factors, including consanguinity, gestational diabetes, family history of congenital heart disease, parental age, and maternal parity, were collected. Regression modeling was used to analyze the effects of risk factors on the development of TGA. Results: A total of 206 patients with transposition of the great arteries were enrolled in the study. Transposition of the great arteries  cases were divided into simple and complex TGA. Selected healthy controls were 446. In the studied cases, consanguinity was found in 95 (46%) of cases, gestational diabetes was diagnosed in 36 (17.5%) mothers, and 35 (17%) had a confirmed family history of congenital heart disease. When risk factors of the cases were compared to the controls, consanguinity, gestational diabetes, maternal age, and parity were found to significantly increase the incidence of TGA. Conclusion: Our study revealed significant risk factors for the development of transposition of great arteries including first degree consanguineous marriages, gestational diabetes, family history of congenital cardiac anomalies, and increasing maternal age and parity. These factors increased the risk by at least 2 folds.

Longitudinal functional health status in young adults with repaired dextro-transposition of the great arteries: A Congenital Heart Surgeons' Society study.

OBJECTIVES: Improved survival has led to interest in functional health status (FHS) as patients with dextro-transposition of the great arteries (d-TGA) transition to adulthood. Our primary objectives were (1) evaluation of The Medical Outcomes Study Short Form-36 Health Survey (SF-36) results; (2) comparison with results of patients who completed the Child Health Questionnaire-Child Form 87 (CHQ-CF87) previously, or the PedsQL Generic Core Scales (PedsQL) survey subsequently; and (3) determination of factors associated with SF-36 domains. METHODS: Survivors from the d-TGA Congenital Heart Surgeons' Society cohort (1985-1989) completed the SF-36 (2010) as a measure of FHS (n = 210; age 21-26 years). Patient characteristics, medical history, psychosocial factors, and previous adolescent CHQ-CF87 FHS assessment (2000) were explored for association with SF-36 domains, along with comparison with recent PedsQL data (2017). RESULTS: Patients scored themselves the same/higher than published normative data in 10 of 10 SF-36 summary scores/domains and similar in 5 of 6 PedsQL summary scores/domains. Factors commonly associated with lower summary scores/domains of the SF-36 were presence of cardiac symptoms, heart condition impacting physical activity/overall health/quality of life, unemployment, and lack of postsecondary education. Less commonly associated factors were lower birth weight, greater total medication number, female sex, shorter procedure-free interval, poor health knowledge, lower family income, younger age at SF-36, living with parents, and being married. These factors accounted for 17% to 47% of the variation in FHS summary scores/domains. FHS was minimally related to d-TGA morphology and repair type. CONCLUSIONS: Patients with d-TGA surviving into adulthood, regardless of morphology or repair type, can primarily expect normal FHS. Addressing the challenges of patients with d-TGA entering adulthood requires consideration of psychosocial factors and clinical management.

Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.

OBJECTIVE: To examine the association between fetal major heart defects and increased nuchal translucency thickness (NT), tricuspid regurgitation and abnormal flow in the ductus venosus in a large population of singleton pregnancies undergoing routine ultrasound examination at 11-13 weeks' gestation. METHODS: This was a retrospective study of prospectively collected data from singleton pregnancies attending for a routine ultrasound scan at 11-13 weeks' gestation, which included examination of fetal anatomy, measurement of NT and assessment of blood flow across the tricuspid valve and in the ductus venosus, according to a standardized protocol. The incidence of fetal NT ≥ 95th and ≥ 99th percentiles, tricuspid regurgitation and reversed a-wave in the ductus venosus in fetuses with and those without a major heart defect was determined and the performance of each marker and their combination in the detection of major heart defects was calculated. RESULTS: The study population of 93 209 pregnancies with no apparent chromosomal abnormality included 211 (0.23%) with a fetal major heart defect and 92 998 morphologically normal neonates. In 113 (53.6%) cases with a major heart defect, the diagnosis was made at the 11-13-week scan, in 82 (38.9%) at the 18-24-week scan, in 10 (4.7%) at the third-trimester scan and in six (2.8%) postnatally. At the 11-13-week scan, we diagnosed all cases of tricuspid or pulmonary atresia and polyvalvular dysplasia, > 90% of cases of hypoplastic left heart syndrome or atrioventricular septal defect, about 60% of complex heart defects and cases of left atrial isomerism (interrupted inferior vena cava with normal intracardiac anatomy), 30-40% of cases of tetralogy of Fallot and arch abnormalities, 25% of tricuspid valve abnormalities and about 15% of cases of transposition of the great arteries, but none of aortic or pulmonary stenosis or common arterial trunk. Fetal NT ≥ 95th or ≥ 99th percentile, tricuspid regurgitation or abnormal ductus venosus flow was observed in 77 (36.5%), 45 (21.3%), 61 (28.9%) and 58 (27.5%) fetuses with a major heart defect, respectively, and in 5678 (6.1%), 857 (0.9%), 1136 (1.2%) and 1644 (1.8%) of those without a heart defect. Any one of NT ≥ 95th percentile, tricuspid regurgitation or abnormal flow in the ductus venosus was found in 117 (55.5%; 95% CI, 48.5-62.3%) fetuses with a heart defect and in 8166 (8.8%; 95% CI, 8.6-9.0%) of those without a heart defect. Any one of NT ≥ 99th percentile or the other two markers was found in 99 (46.9%; 95% CI, 40.0-53.9%) fetuses with a heart defect and in 3517 (3.8%; 95% CI, 3.7-3.9%) of those without a heart defect. CONCLUSION: At 11-13 weeks' gestation, measurement of fetal NT and assessment of flow across the tricuspid valve and in the ductus venosus can lead to early diagnosis of major heart defect. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Necrotizing Enterocolitis and Associated Mortality in Neonates With Congenital Heart Disease: A Multi-Institutional Study.

OBJECTIVE: There are scarce data about the prevalence and mortality of necrotizing enterocolitis in neonates with congenital heart disease. The purpose of this study is to provide a multi-institutional description and comparison of the overall prevalence and mortality of necrotizing enterocolitis in neonates with congenital heart disease. DESIGN: Retrospective multi-institutional study. SETTING: The Pediatric Health Information System database. PATIENTS: Neonates with congenital heart disease between 2004 and 2014. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: The primary study measure is the prevalence of necrotizing enterocolitis. Secondary measures include in-hospital mortality, hospital charges, ICU length of stay, hospital length of stay, and 30-day readmission. The prevalence of necrotizing enterocolitis was 3.7% (1,448/38,770) and varied significantly among different congenital heart disease diagnoses. The lowest prevalence of necrotizing enterocolitis was in transposition of the great arteries (n = 104, 2.1%). Compared with transposition of the great arteries, necrotizing enterocolitis occurred more frequently in neonates with hypoplastic left heart syndrome (odds ratio, 2.7; 95% CI, 2.1-3.3), truncus arteriosus (odds ratio, 2.6; 95% CI, 1.9-3.5), common ventricle (odds ratio, 2.1; 95% CI, 1.5-2.8), and aortic arch obstruction (odds ratio, 1.4; 95% CI, 1.1-1.7). Prematurity is a significant risk factor for necrotizing enterocolitis and for mortality in neonates with necrotizing enterocolitis, conferring varying risk by cardiac diagnosis. Unadjusted mortality associated with necrotizing enterocolitis was 24.4% (vs 11.8% in neonates without necrotizing enterocolitis; p < 0.001), and necrotizing enterocolitis increased the adjusted mortality in neonates with transposition of the great arteries (odds ratio, 2.5; 95% CI, 1.5-4.4), aortic arch obstruction (odds ratio, 1.8; 95% CI, 1.3-2.6), and tetralogy of Fallot (odds ratio, 1.6; 95% CI, 1.1-2.4). Necrotizing enterocolitis was associated with increased hospital charges (p < 0.0001), ICU length of stay (p = 0.001), and length of stay (p = 0.001). CONCLUSIONS: The prevalence of necrotizing enterocolitis among neonates with congenital heart disease is 3.7% and is associated with increased in-hospital mortality, length of stay, and hospital charges. The prevalence and associated mortality of necrotizing enterocolitis in congenital heart disease vary among different heart defects.

Incidence and Risk Factors for Right Ventricular Outflow Tract Obstruction after the Arterial Switch Operation.

BACKGROUND: The aim of this study was to evaluate the incidence and risk factors for the development of right ventricular outflow tract obstruction (RVOTO) after the arterial switch operation (ASO). METHODS: Between 1983 and 2014, a total of 688 patients underwent ASO. RVOTO was defined as any obstruction of the right ventricular outflow tract (RVOT) requiring reintervention. RESULTS: RVOTO developed in 79 patients (11%) at a median time of 3.8 years (range, 1 day-23.6 years) after ASO. Freedom from RVOT reintervention was 96 ± 1, 89 ± 1, and 83 ± 2% at 1, 10, and 25 years, respectively. Independent risk factors for the development of RVOTO in a Cox's regression model were side-by-side great arteries (p < 0.001), aortic arch anomalies (p < 0.001), use of a pericardial patch for augmentation of the coronary buttons (p < 0.001), and a peak gradient more than 20 mm Hg over the RVOT at discharge (p < 0.001). CONCLUSION: The incidence of RVOTO after ASO is not negligible. Complex morphology, such as side-by-side great arteries and aortic arch anomalies influences the development of RVOTO.

The implementation of a nationwide anomaly screening programme improves prenatal detection of major cardiac defects: an 11-year national population-based cohort study.

OBJECTIVE: To evaluate whether a nationwide prenatal anomaly screening programme improves detection rates of univentricular heart (UVH) and transposition of great arteries (TGA), and whether maternal risk factors for severe fetal heart disease affect prenatal detection. DESIGN: Population-based cohort study. SETTING: Nationwide data from Finnish registries 2004-14. POPULATION: A total of 642 456 parturients and 3449 terminated pregnancies due to severe fetal anomaly. METHODS: Prenatal detection rates were calculated in three time periods (prescreening, transition and screening phase). The effect of maternal risk factors (obesity, in vitro fertilisation, pregestational diabetes and smoking) was evaluated. MAIN OUTCOME MEASURES: Change in detection rates and impact of maternal risk factors on screening programme efficacy. RESULTS: In total, 483 cases of UVH and 184 of TGA were detected. The prenatal detection rate of UVH increased from 50.4% to 82.8% and of TGA from 12.3% to 41.0% (P < 0.0001). Maternal risk factors did not affect prenatal detection rate, but detection rate differed substantially by region. CONCLUSIONS: A nationwide screening programme improved overall UVH and TGA detection rates, but regional differences were observed. Obesity or other maternal risk factors did not affect the screening programme efficacy. The establishment of structured guidelines and recommendations is essential when implementing the screening programme. In addition, a prospective screening register is highly recommended to ensure high quality of screening. TWEETABLE ABSTRACT: Implementation of a nationwide prenatal anomaly screening improved detection rates of UVH and TGA.

Outcomes of the anatomical repair in patients with congenitally corrected transposition of the great arteries: lessons learned in a high-volume centre.

OBJECTIVES: The physiological repair of the congenitally corrected transposition of the great arteries (ccTGA) has been associated with a long-term risk of the right ventricular dysfunction and tricuspid valve regurgitation. On the other side, the anatomical repair with the restoration of the left ventricle in a systemic position has been hypothesized to improve long-term outcomes. The aim of this study was to determine the results of the anatomical repair. METHODS: Between 1990 and 2015, 39 patients underwent an anatomical repair of a ccTGA. The median age was 7 years (range from 8 days to 42.8 years). Eighteen (46%) patients had a double switch. Of these, 21 (54%) patients had an atrial switch with a Rastelli technique (n = 16, 41%), with a réparation à l'étage ventriculaire (REV) procedure (n = 4, 10%) or a truncal rotation (n = 1, 3%). The follow-up was 100% complete at 2 years with a median follow-up of 3.17 years (range 0-26 years). RESULTS: The early mortality was 10% (n = 4) and the late mortality was 20% (n = 8). The long-term survival was 77 ± 10% at 10 years for the double switch group and 62 ± 11% at 10 years for the Rastelli group (P = 0.25). Eight (20%) patients required reintervention. Freedom from reoperation at 10 years was 82 ± 11% in the double switch group and 88 ± 11% in the Rastelli group. At the last follow-up, 23 (82%) patients were in New York Heart Association (NYHA) functional class I and 2 (7%) patients in NYHA class II. CONCLUSIONS: The anatomical repair of the ccTGA is associated with significant early mortality and morbidity. However, the long-term functional status is satisfactory. The anatomical repair of the ccTGA should be reserved for a carefully selected group of patients.

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

OBJECTIVE: We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking Dicer1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries. DESIGN: We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 3' untranslated region of DICER1 in patient DNA. CASES: Germline DNA was collected from 129 patients with either sporadic or familial forms of transposition of the great arteries from two sites in Australia and Italy. RESULTS: Most cases (85%) did not have any germline DICER1 variants. In the remaining 15% of cases, we identified 16 previously reported variants (5 synonymous, 6 intronic, and 5 missense) and 2 novel variants (1 intronic and 1 missense). None of the identified variants were predicted to be pathogenic. CONCLUSIONS: Here, we report that neither likely pathogenic nor pathogenic variants in DICER1 appear to play a major role in transposition of the great arteries.

Heart failure in grown-up congenital heart disease.

The increasing survival to adulthood of patients with congenital heart disease (CHD) has changed the epidemiology of adult CHD (ACHD) patients and has led to an increment in hospitalization rates due to heart failure (HF). ACHD patients hospitalized for HF have a five-fold higher risk of death than those compensated. HF occurs predominantly in patients with tetralogy of Fallot, single ventricles, and after the Mustard operation for transposition of the great arteries. Diagnostic strategies applied in acquired HF patients are usually used to evaluate ACHD patients, but sometimes this can postpone the identification of HF that can become manifest with unusual and peculiar signs or symptoms. In the same way, therapeutic management resembles the acquired HF one, even if no large randomized clinical trials have been conducted in ACHD patients. Therefore, a close monitoring in dedicated units is mandatory in order to identify in time HF manifestations and manage them adequately.

Population trends in prenatal detection of transposition of great arteries: impact of obstetric screening ultrasound guidelines.

OBJECTIVES: Dextro-transposition of the great arteries (d-TGA) is one of the most common critical neonatal heart defects, with a low detection rate antenatally. We sought to evaluate trends in the prenatal detection of d-TGA with or without ventricular septal defect (VSD) in Alberta over the past 13 years, examining the potential impact of ultrasound guidelines incorporating screening of cardiac outflow tracts, updated in 2009-2010 and in 2013, and factors affecting detection of the condition. METHODS: All fetuses and neonates with d-TGA, with or without VSD, encountered between 2003 and 2015 in the province of Alberta, were identified retrospectively. Clinical records including obstetric ultrasound reports were reviewed. Pregnancy outcome, common referral indications and associated maternal and fetal pathology in affected pregnancies were assessed. RESULTS: From 2003 to 2015, 127 cases with d-TGA were encountered in Alberta, of which 47 (37%) were detected prenatally. Prenatal detection improved over the study period, from 14% in 2003-2010, to 50% in 2011-2013, and to 77% in 2014-2015. Of the 47 fetuses with a prenatal diagnosis of d-TGA, an indication for fetal echocardiography included abnormal or poorly visualized cardiac outflows with normal four-chamber view in 46 (98%). Comorbidities were identified in 12 mothers, only five of which represented an additional reason for fetal echocardiography referral, and four fetuses had extracardiac pathology. CONCLUSION: Substantial improvement in the prenatal detection of d-TGA has been observed in Alberta over the past few years, owing to improved screening of cardiac outflow tracts on routine obstetric ultrasound examination in otherwise healthy pregnancies, and has been temporally associated with updated obstetric ultrasound guidelines suggesting that these contributed to optimized screening of affected pregnancies. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.