The prognosis of common arterial trunk from a fetal perspective: a prenatal cohort study and systematic literature review

Objective The limited number of large fetal cohort studies on common arterial trunk (CAT) impedes prenatal counseling at midgestation. This study evaluates the prognosis of CAT from a fetal perspective.Method Fetuses with a prenatally diagnosed CAT were extracted from the PRECOR registry (2002-2016). We evaluated fetal and postnatal survival and the presence of additional morbidity at last follow-up. Literature databases were searches systematically for additional cases.Results Thirty-eight cases with a prenatal diagnosis of CAT were identified in our registry, of which 18/38 (47%) opted for pregnancy termination (TOP). Two cases resulted in spontaneous intrauterine demise (10%, 2/20), six cases demised postnatally (33%, 6/18), leaving 60% (12/20) alive, after exclusion of TOP, at a mean age of six (range: 2-10 years).Additional morbidity was found in 42% (5/12) of survivors, including 22q11.2 deletion syndrome, Adams-Oliver syndrome and intestinal atresia, whereas 8% (1/12) had developmental delay. The remaining 30% (6/12) of survivors appeared isolated with normal development. All of whom six required replacement of the initial right ventricle to pulmonary artery conduit. Additionally, we reviewed 197 literature cases on short-term outcome.Conclusion The risk of fetal and neonatal demise, as well as significant morbidity amongst survivors, should be included in prenatal counseling for CAT.Research into fetal development and medicin

Early detection of isolated severe congenital heart defects is associated with a lower threshold to terminate the pregnancy

Introduction: Early detection of isolated severe congenital heart defects (CHDs) allows extra time for chromosomal analysis and informed decision making, resulting in improved perinatal management and patient satisfaction. Therefore, the aim of this study was to assess the value of an additional first-trimester screening scan compared to only a second-trimester scan in fetuses diagnosed with isolated severe CHDs. Prenatal detection rate, time of prenatal diagnosis, and pregnancy outcome were evaluated in the Netherlands after implementation of a national screening program.Materials and methods: We performed a retrospective geographical cohort study and included 264 pre- and postnatally diagnosed isolated severe CHD cases between January 1, 2007, and December 31, 2015, in the Amsterdam region. Severe CHD was defined as potentially life threatening if intervention within the first year of life was required. Two groups were defined: those with a first- and second-trimester anomaly scan (group 1) and those with a second-trimester anomaly scan only (group 2). A first-trimester scan was defined as a scan between 11 + 0 and 13 + 6 weeks of gestation.Results: Overall, the prenatal detection rate for isolated severe CHDs was 65%; 63% were detected before 24 weeks of gestation (97% of all prenatally detected CHDs). Prenatal detection rate was 70.2% in the group with a first- and second-trimester scan (group 1) and 58% in the group with a second-trimester scan only (group 2) (p Conclusion: Prenatal detection rate of isolated severe CHDs and termination of pregnancy rate was higher in the group with both a first- and second-trimester scan. We found no differences between timing of terminations. The additional time after diagnosis allows for additional genetic testing and optimal counseling of expectant parents regarding prognosis and perinatal management, so that well-informed decisions can be made.</p

Heart Rate Recovery After Exercise Is Associated With Arrhythmic Events in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

BACKGROUND: Risk stratification in catecholaminergic polymorphic ventricular tachycardia remains ill defined. Heart rate recovery (HRR) immediately after exercise is regulated by autonomic reflexes, particularly vagal tone, and may be associated with symptoms and ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. Our objective was to evaluate whether HRR after maximal exercise on the exercise stress test (EST) is associated with symptoms and ventricular arrhythmias. METHODS: In this retrospective observational study, we included patients ≤65 years of age with an EST without antiarrhythmic drugs who attained at least 80% of their age- and sex-predicted maximal HR. HRR in the recovery phase was calculated as the difference in heart rate (HR) at maximal exercise and at 1 minute in the recovery phase (ΔHRR1'). RESULTS: We included 187 patients (median age, 36 years; 68 [36%] symptomatic before diagnosis). Pre-EST HR and maximal HR were equal among symptomatic and asymptomatic patients. Patients who were symptomatic before diagnosis had a greater ΔHRR1' after maximal exercise (43 [interquartile range, 25-58] versus 25 [interquartile range, 19-34] beats/min; P<0.001). Corrected for age, sex, and relatedness, patients in the upper tertile for ΔHRR1' had an odds ratio of 3.4 (95% CI, 1.6-7.4) of being symptomatic before diagnosis (P<0.001). In addition, ΔHRR1' was higher in patients with complex ventricular arrhythmias at EST off antiarrhythmic drugs (33 [interquartile range, 22-48] versus 27 [interquartile range, 20-36] beats/min; P=0.01). After diagnosis, patients with a ΔHRR1' in the upper tertile of its distribution had significantly more arrhythmic events as compared with patients in the other tertiles (P=0.045). CONCLUSIONS: Catecholaminergic polymorphic ventricular tachycardia patients with a larger HRR following exercise are more likely to be symptomatic and have complex ventricular arrhythmias during the first EST off antiarrhythmic drug

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients from 21 unrelated families of different ancestries with biallelic phospholipase D1 (PLD1) variants who presented predominantly with congenital cardiac valve defects. We also associated recessive PLD1 variants with isolated neonatal cardiomyopathy. Furthermore, we established that p.1668F is a founder variant among Ashkenazi Jews (allele frequency of -.2%) and describe the phenotypic spectrum of PLD1-associated congenital heart defects. PLD1 missense variants were overrepresented in regions of the protein critical for catalytic activity, and, correspondingly, we observed a strong reduction in enzymatic activity for most of the mutant proteins in an enzymatic assay. Finally, we demonstrate that PLD1 inhibition decreased endothelial-mesenchymal transition, an established pivotal early step in valvulogenesis. In conclusion, our study provides a more detailed understanding of disease mechanisms and phenotypic expression associated with PLD1 loss of function.Genetics of disease, diagnosis and treatmen

Echocardiographic Evaluation of Fetal Cardiac Function: Clinical and Anatomical Correlations in Two Cases of Endocardial Fibroelastosis

Background: Two fetuses with endocardial fibroelastosis, one with critical aortic stenosis and one with high-output cardiac failure due to chorioangiomatosis, are presented to evaluate the correlation between Doppler echocardiographic findings, the fetal clinical condition and the anatomical substrate found at postmortem. Methods: Doppler measurements of cardiac function (systolic, diastolic and global) and a cardiovascular score incorporating five parameters of fetal well-being were recorded. Results: In the fetus with critical aortic stenosis, the cardiovascular score was diminished, there was no hydrops, the systolic and global cardiac function indices were within normal limits but the diastolic function indices were abnormal. The fetus with high-output cardiac failure was hydropic, the cardiovascular score was diminished and abnormal Doppler indices of systolic, diastolic and global cardiac function were found. In both fetuses, abnormalities in the measured Doppler parameters were found consistent with clinical cardiac dysfunction and the postmortem findings. Conclusion: Recognition of abnormal diastolic function Doppler indices may assist in earlier identification of fetal cardiac compromise. Copyright (C) 2010 S. Karger AG, BaselDevelopmen

Prenatal diagnosis of cardiac defects: accuracy and benefit

Objective The prenatal diagnosis of cardiac defects can potentially reduce postnatal morbidity and mortality. We wanted to evaluate prenatal cardiac diagnosis accuracy in a population referred for echocardiography. Methods Single centre retrospective study of echocardiography referrals between April 1999 and December 2008. We compared the prenatal and postnatal cardiac diagnoses, the modified Aristotle and Wald scores. The final diagnosis Wald score was used to evaluate benefit. Results Six hundred fetuses were included. Diagnoses included: normal heart (312, 52%); congenital heart defect (CHD) (231, 38.5%); primary arrhythmia (39, 6.5%); or cardiomyopathy, myocarditis or cardiac tumor (18, 3%). The prenatal and postnatal Aristotle and Wald scores correlated in 81% and 86%, respectively, each with significant differences in 22 cases. Four significant CHDs were misdiagnosed, the surgical prediction was incorrect in 7 and 13 false positive diagnoses of aortic coarctation were made. In 76% (455/600) fetuses prenatal diagnosis was considered beneficial. The average CHD Aristotle score was 9.5?+/-?5.0. In babies with CHDs and normal karyotype the score was either 6.5?+/-?5.0, 12.9?+/-?3.1 or 13.2?+/-?2.9, in survivors, cases of postnatal demise and cases of pregnancy termination, respectively. Conclusion Prenatal diagnosis was accurate and the counselling appropriate in most cases; however, a few errors were made. The diagnosis of aortic coarctation remains challenging. (c) 2012 John Wiley & Sons, Ltd

Percutaneous implantation of a pulmonary valve: an illustrative case

Surgical reconstruction of the right ventricular outflow tract (RVOT) with valved conduits in infants and children with congenital heart disease leads to re-intervention in later life as the ensuing pulmonary regurgitation and stenosis of the degenerating conduit impacts negatively on right ventricular function. Percutaneous pulmonary valve implantation (PPVI) provides a safe alternative to early surgical re-intervention in these patients. We describe this procedure as performed on an 11- year-old boy. Difficulty may be experienced crossing the RVOT prior to PPVI. We describe several techniques that may be used to encourage the distal movement of the delivery system through the RVOT. (Neth Heart J 2007;15:27-30.

Left atrial isomerism: biventricular repair

Objective: Biventricular repair of hearts with left atrial isomerism often necessitates complex atrial and ventricular baffle procedures. We analysed our experience with an accent on baffle techniques. Methods: From 1997 until 2008, 12 patients (four male) with left atrial isomerism received biventricular repair. Their median age at surgery was 9 (range: 1-24) months. Four patients had dextrocardia. Nine patients presented with left superior vena cava, three with absent right superior vena cava, five with unroofed coronary sinus and nine others with inferior vena cava interruption with (hemi)azygos continuation. Anomalous pulmonary venous drainage was present in three patients. Eight had a monoatrium. Atrioventricular septal defect (AVSD) occurred in six (complete AVSD in two), One patient with complete AVSD had right pulmonary agenesia with tong segment tracheal stenosis. Multiple VSDs presented in one whereas three patients had double-outlet right ventricle (DORV) (one with borderline LV hypoplasia). Two had previous pulmonary artery banding. Complex intra-atrial baffle constructions were performed in seven patients. Complete AVSDs were corrected using two patches and all other AVSDs had one patch repair. Multiple VSDs were closed directly. DORV patients had intraventricular tunnel repair. Results: No early mortality occurred. Median follow-up was 54 (range: 2-134) months. One patient with complete AVSD and pulmonary agenesia died late after tracheal repair. Four patients needed five re-operations (closure of residual ASD (one), relief of left (two) or right (two) ventricular outflow obstruction, pulmonary artery branch plasty (one)). There was no atrial baffle stenosis. Four received a pacemaker. All survivors are in NYHA class I. Conclusions: Survival and functional status of left isomerism patients after biventricular repair is good. Complex repairs with atrial or ventricular baffles are frequent. Arrhythmias were common and pose a concern late after repair. (C) 2010 European Association for Cardio-Thoracic Surgery. Published by Elsevier B.V. All rights reserved.Cardiolog