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BMC Cardiovascular Disorders Jan 2021Berry syndrome, a rare combination of cardiac anomalies, consists of aortopulmonary window (APW); aortic origin of the right pulmonary artery; interrupted aortic arch... (Review)
Review
BACKGROUND
Berry syndrome, a rare combination of cardiac anomalies, consists of aortopulmonary window (APW); aortic origin of the right pulmonary artery; interrupted aortic arch (IAA) or hypoplastic aortic arch or coarctation of the aorta; and an intact ventricular septum. There is lack of review articles that elucidate the clinical features, diagnosis, treatment, and outcomes of Berry syndrome. This publication systematically reviews the 89 cases published since 1982 on Berry syndrome.
CASE PRESENTATION
A 38-year-old woman presented with a loud murmur and cyanosis. Transthoracic echocardiography demonstrated a severely dilated aorta and main pulmonary artery with a large intervening defect. Distal to the APW, the ascending aorta gave rise to the right pulmonary artery. Additionally, a type A IAA, an intact ventricular septum, and a large patent ductus arteriosus were revealed. Computed tomography angiography with 3-dimensional reconstruction confirmed above findings. This is the first report of a patient of this age with Berry syndrome who did not undergo surgery.
CONCLUSIONS
Berry syndrome is a rare but well-identified and surgically correctable anomaly. Patients with Berry syndrome should be followed up for longer periods to better characterize long-term outcomes.
Topics: Abnormalities, Multiple; Adult; Computed Tomography Angiography; Coronary Angiography; Cyanosis; Echocardiography, Doppler, Color; Female; Heart Defects, Congenital; Humans; Multimodal Imaging; Predictive Value of Tests; Prognosis; Syndrome
PubMed: 33407161
DOI: 10.1186/s12872-020-01837-y -
Archivos de Cardiologia de Mexico Jul 2022
Topics: Heart Defects, Congenital; Heart Septal Defects, Ventricular; Humans; Truncus Arteriosus; Truncus Arteriosus, Persistent
PubMed: 34619748
DOI: 10.24875/ACM.21000080 -
Children (Basel, Switzerland) Apr 2022Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals is a complex congenital heart defect that includes a heterogeneous subgroup of... (Review)
Review
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals is a complex congenital heart defect that includes a heterogeneous subgroup of patients. Variation in the sources of pulmonary blood flow contributes to the complexity of the lesion and the diversity of approaches to its management. Unifocalization and rehabilitation focus on mobilization of collateral arteries and growth of native pulmonary arteries, respectively, with the ultimate surgical goal of achieving separated systemic and pulmonary circulations with the lowest possible right ventricular pressure. Regardless of the strategy, outcomes have altered the natural history of the disease, with a complete repair rate of approximately 80% and low early and late mortality rates. Given this heterogeneity of pulmonary vasculature, a tailored approach should be adopted for each patient, using all diagnostic methods currently offered by technical developments.
PubMed: 35455558
DOI: 10.3390/children9040515 -
Ultrasound in Obstetrics & Gynecology :... Aug 2022Outcome of common arterial trunk (CAT) depends mainly on truncal valve function, presence of coronary artery abnormalities and presence of interrupted aortic arch. The...
OBJECTIVES
Outcome of common arterial trunk (CAT) depends mainly on truncal valve function, presence of coronary artery abnormalities and presence of interrupted aortic arch. The main objective of this study was to evaluate the accuracy of prenatal diagnosis of CAT by analyzing prenatal vs postnatal assessment of: (1) anatomic subtypes and (2) truncal valve function. The secondary objective was to assess the potential impact of prenatal diagnosis of CAT on postnatal mortality and morbidity by comparing prenatally vs postnatally diagnosed patients.
METHODS
This was a retrospective analysis of all CAT patients diagnosed either prenatally, with postnatal or fetopsy confirmation, or postnatally, from 2011 to 2019 in a single tertiary center. Cohen's kappa statistic was used to evaluate agreement between pre- and postnatal assessment of anatomic subtypes according to Van Praagh and of truncal valve function. Mortality and morbidity variables were compared between prenatally vs postnatally diagnosed CAT patients.
RESULTS
A total of 84 patients (62 liveborn with prenatal diagnosis, 16 liveborn with postnatal diagnosis and six terminations of pregnancy with fetopsy) met the inclusion criteria. The accuracy of prenatal diagnosis of CAT anatomic subtype was 80.3%, and prenatal and postnatal concordance for subtype diagnosis was only moderate (κ = 0.43), with no patient with CAT Type A3 (0/4) and only half of patients with CAT Type A4 (8/17) being diagnosed prenatally. Fetal evaluation of truncal valve function underestimated the presence (no agreement; κ = 0.09) and severity (slight agreement; κ = 0.19) of insufficiency. However, four of five cases of postnatally confirmed significant truncal valve stenosis were diagnosed prenatally, with fair agreement for both presence and severity of stenosis (κ = 0.38 and 0.24, respectively). Mortality was comparable in patients with and those without prenatal diagnosis (log-rank P = 0.87). CAT patients with fetal diagnosis underwent earlier intervention (P < 0.001), had shorter intubation time (P = 0.047) and shorter global hospital stay (P = 0.01).
CONCLUSIONS
The accuracy of prenatal diagnosis of CAT is insufficient to tailor neonatal management and to predict outcome. Fetal assessment of truncal valve dysfunction appears unreliable due to perinatal transition. Improvement is necessary in the fetal diagnosis of anatomic subtypes of CAT requiring postnatal prostaglandin infusion. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Constriction, Pathologic; Female; Heart Defects, Congenital; Humans; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Truncus Arteriosus, Persistent; Ultrasonography, Prenatal
PubMed: 35118719
DOI: 10.1002/uog.24873 -
The Journal of Thoracic and... Oct 2021We compared the risk of mortality and reintervention after common arterial trunk (CAT) repair for different surgical techniques, in particular the reconstruction of the...
OBJECTIVES
We compared the risk of mortality and reintervention after common arterial trunk (CAT) repair for different surgical techniques, in particular the reconstruction of the right ventricle outflow tract with left atrial appendage (LAA) without a monocusp.
METHODS
The study population comprised 125 patients with repaired CAT who were followed-up at our institution between 2000 and 2018. Statistical analysis included Cox proportional hazard models.
RESULTS
Median follow-up was 10.6 years. The 10-year survival rate was 88.2% (95% confidence interval [CI], 80.6-92.4) with the poorest outcome for CAT type IV (64.3%; 95% CI, 36.8-82.3; P < .01). In multivariable analysis, coronary anomalies (hazard ratio [HR], 11.63 [3.84-35.29], P < .001) and CAT with interrupted aortic arch (HR, 6.50 [2.10-20.16], P = .001) were substantial and independent risk factors for mortality. Initial repair with LAA was not associated with an increased risk of mortality (HR, 0.37 [0.11-1.24], P = .11). The median age at reintervention was 3.6 years [7.3 days-13.1 years]. At 10 years, freedom from reintervention was greater in the group with LAA repair compared with the valved conduit group, 73.3% (95% CI, 41.3-89.4) versus 17.2% (95% CI, 9.2-27.4) (P < .001), respectively. Using a valved conduit for repair (HR, 4.79 [2.45-9.39], P < .001), truncal valve insufficiency (HR, 2.92 [1.62-5.26], P < .001) and DiGeorge syndrome (HR, 2.01 [1.15-3.51], P = .01) were independent and clinically important risk factors for reintervention.
CONCLUSIONS
For the repair of CAT, the LAA technique for right ventricle outflow tract reconstruction was associated with comparable survival and greater freedom from reintervention than the use of a valved conduit.
Topics: Atrial Appendage; Cardiovascular Surgical Procedures; Child; Coronary Vessel Anomalies; France; Heart Ventricles; Humans; Infant, Newborn; Male; Mortality; Outcome and Process Assessment, Health Care; Postoperative Complications; Reoperation; Risk Adjustment; Risk Factors; Truncus Arteriosus, Persistent
PubMed: 33342576
DOI: 10.1016/j.jtcvs.2020.10.147 -
Journal of Clinical Medicine Jun 2024An aortopulmonary septal defect or aortopulmonary window (APW) is a rare cardiovascular anomaly with direct communication between the ascending aorta and the main... (Review)
Review
An aortopulmonary septal defect or aortopulmonary window (APW) is a rare cardiovascular anomaly with direct communication between the ascending aorta and the main pulmonary artery leading to a left-to-right shunt. It is accompanied by other cardiovascular anomalies in approximately half of patients. In order to avoid irreversible sequelae, interventional or surgical treatment should be performed as soon as possible. Cardiovascular CT, as a fast, non-invasive technique with excellent spatial resolution, has an increasing role in the evaluation of patients with APW, enabling precise and detailed planning of surgical treatment of APW and associated anomalies if present. This article aims to review the anatomical and clinical features of aortopulmonary septal defect with special emphasis on its detection and characterization by a CT examination.
PubMed: 38930042
DOI: 10.3390/jcm13123513 -
Interdisciplinary Cardiovascular and... Jan 2023Berry syndrome is a rare congenital heart disease that requires complete corrective surgery. In certain extreme cases, such as ours, a two-stage as opposed to...
Berry syndrome is a rare congenital heart disease that requires complete corrective surgery. In certain extreme cases, such as ours, a two-stage as opposed to single-stage repair is a possibility. In doing so, we also used annotated and segmented three-dimensional models for the first time in Berry syndrome, adding to growing evidence that such models enhance the understanding of complex anatomy for surgical planning.
PubMed: 36802256
DOI: 10.1093/icvts/ivac284 -
The Egyptian Heart Journal : (EHJ) :... Apr 2020Tetralogy of Fallot (TOF) accounts for 10% of all CHD. It classically consists of ventricular septal defect (VSD), aortic overriding, right ventricular outflow tract... (Review)
Review
BACKGROUND
Tetralogy of Fallot (TOF) accounts for 10% of all CHD. It classically consists of ventricular septal defect (VSD), aortic overriding, right ventricular outflow tract (RVOT) obstruction, and RV hypertrophy. There are many anatomic variants, associated intracardiac and extracardiac anomalies that must be taken into consideration when imaging and planning the surgical procedure needed. Multi-detector computed tomography (MDCT), with its high spatial and temporal resolution, has a pivotal role in the evaluation of complex anatomical findings in both unrepaired and repaired TOF patients.
MAIN BODY
Though MDCT has a limited role in the initial diagnosis of TOF, it is particularly important when there is a question about anatomy of pulmonary arteries (PAs) (whether sizable, hypoplastic, or atretic), presence of major aorto-pulmonary collaterals (MAPCAs) and presence of additional VSDs. Additionally, MDCT is crucial in the diagnosis of different anatomical variants of TOF. TOF patients with absent pulmonary valve classically have hugely dilated PAs which raise an important question about the degree and severity of airways compression. This question can be accurately answered by MDCT. TOF with double-outlet RV (DORV) has variable degrees of aortic override which can be assessed by MDCT. An atrio-ventricular septal defect (AVSD) is seen in about 13% of TOF cases and typically occurs in patients with Down syndrome. MDCT can assess the size and extent of inlet VSD and size of both ventricles (balanced or unbalanced AVSD). Coronary artery anomalies are common and important association. MDCT can identify the presence of a major coronary artery crossing the RVOT, a left anterior descending (LAD) from RCA, or a dual LAD. The clinical importance of these anomalies is its susceptibility to injury during ventriculotomy incision required for TOF repair necessitating changing the usual approach of surgery. Patients with reduced pulmonary blood flow undergo a systemic to pulmonary shunt. MDCT can assess the patency of the shunt, stenotic, or occluded segments. In surgically repaired TOF patients, MDCT can identify the sequalae and long-term complications including residual RVOT obstruction, conduit stenosis, RVOT patch aneurysm, RVH, and aortic root dilatation.
CONCLUSION
MDCT is a safe and reliable imaging modality that provides accurate assessment of anatomical variants and associated anomalies of TOF.
PubMed: 32266511
DOI: 10.1186/s43044-020-00047-3 -
Indian Journal of Thoracic and... Jul 2022Late presentation of aortopulmonary window (APW) beyond infancy is uncommon and many of these cases are inoperable due to development of progressive pulmonary...
Late presentation of aortopulmonary window (APW) beyond infancy is uncommon and many of these cases are inoperable due to development of progressive pulmonary hypertension and Eisenmenger syndrome. Outcome data in this cohort is thus sparse and the aim of this study was to analyze the outcomes in patients with APW operable beyond 1 year of age. Between September 2016 and March 2020, in a single center, 12 consecutive patients older than 1 year, undergoing surgery for APW, were included in the study. The median age and weight at presentation were 7.5 years (interquartile range (IQR) 4-9.5) and 15 kg (IQR 11.7-19.5). Ten (83.3%) patients had type 1 APW (proximal type) and 2 (16.6%) had a type 2 APW (distal type). Eight (66.6%) patients had associated lesions. Transaortic patch closure of APW was done in all cases. Seven (58.3%) patients were extubated within 3.5 h of admission in intensive care. There were no early deaths or during follow-up. The median follow-up duration was 20.5 months (IQR 7.5-24), and all patients were in New York Heart Association (NYHA) class I at last follow-up. Follow-up echocardiography did not reveal any significant residual shunts necessitating any additional procedure and a consistent decrease in pulmonary artery pressures. Surgery in patients with APW beyond 1 year of age is possible in selected patients. The early and intermediate surgical outcomes in patients who remain operable are excellent.
PubMed: 35756557
DOI: 10.1007/s12055-021-01306-x