Complex Heart Defects Research Articles

Suspected ovarian cancer in a young patient with a congenital heart defect and a history of cardiac surgery and pacemaker implantation – difficult therapeutic decisions

After uterine cancer, ovarian cancer is the second most common female reproductive tract malignancy. In Poland, in 2015, there were 3735 new cases and 2738 deaths from ovarian cancer. Over 80% of all cases are diagnosed in women aged over 50, whereas only 6% – before 35 years of age. Most cases are diagnosed, when clinical symptoms have already appeared, and the disease is at least locally advanced. The case presented below describes a very young 28-year-old woman with a tumour in the pelvis, ascites and very high Ca 125 and HE 4 levels. The clinical symptoms as well as laboratory and imaging tests were suggestive of epithelial ovarian cancer that required urgent surgery due to progression of the disease. The surgery posed a significant risk of complications, but owing to the deterioration of the patient’s condition it was considered necessary. The patient was born with a severe, complex heart defect, had undergone two cardiac surgeries, and had a pacemaker (first VVIR, then DDD). She was also intensively treated for iatrogenic HCV infection and hypothyroidism. A multidisciplinary team (a gynecologist, cardiologist and anesthetist) were behind the decision to carry out a major gynecological operation which ended with success. For the past 6 years, the patient has been under constant oncological follow-up and enjoys a good health.

Primary detection of congenital heart diseases in the Kyrgyz Republic

Objective: The aim of this paper is to understand the structure of congenital heart diseases (CHD) and the age of the first diagnosis in a population referred to specialized cardiac surgery center from different regions of Kyrgyz Republic. Methods: In 2017, 7213 people of different ages, from Kyrgyz Republic were examined by using transthoracic echocardiogram at cardiac surgery center aimed to detection of congenital heart disease Results: In total, 478 new patients with primary diagnosis of CHD were identified; 413 (86%) patients had a delayed diagnosis. The total detectability was 6.75%. The structure of congenital heart disease has a large difference depending on the age group. The proportion of complex heart defects predominates in newborn children and significantly decreases with age. Conclusion: A study of the prevalence and structure of heart defects in the country will help to find the right decision in planned care for patients with CHD, in cases of limited resources. Keywords: newborn, congenital heart defects, diagnostics, prevalence, echocardiography

Congenital heart disease in adults: Assessmentof functional capacity using cardiopulmonary exercise testing

AimThe aim of the study was to compare functional capacity in different types of congenital heart disease (CHD), as assessed by cardiopulmonary exercise testing (CPET). MethodsA retrospective analysis was performed of adult patients with CHD who had undergone CPET in a single tertiary center. Diagnoses were divided into repaired tetralogy of Fallot, transposition of the great arteries (TGA) after Senning or Mustard procedures or congenitally corrected TGA, complex defects, shunts, left heart valve disease and right ventricular outflow tract obstruction. ResultsWe analyzed 154 CPET cases. There were significant differences between groups, with the lowest peak oxygen consumption (VO2) values seen in patients with cardiac shunts (39% with Eisenmenger physiology) (17.2±7.1ml/kg/min, compared to 26.2±7.0ml/kg/min in tetralogy of Fallot patients; p<0.001), the lowest percentage of predicted peak VO2 in complex heart defects (50.1±13.0%) and the highest minute ventilation/carbon dioxide production slope in cardiac shunts (38.4±13.4). Chronotropism was impaired in patients with complex defects. Eisenmenger syndrome (n=17) was associated with the lowest peak VO2 (16.9±4.8 vs. 23.6±7.8ml/kg/min; p=0.001) and the highest minute ventilation/carbon dioxide production slope (44.8±14.7 vs. 31.0± 8.5; p=0.002). Age, cyanosis, CPET duration, peak systolic blood pressure, time to anaerobic threshold and heart rate at anaerobic threshold were predictors of the combined outcome of all-cause mortality and hospitalization for cardiac cause. ConclusionAcross the spectrum of CHD, cardiac shunts (particularly in those with Eisenmenger syndrome) and complex defects were associated with lower functional capacity and attenuated chronotropic response to exercise.

Recent innovations in perfusion and cardiopulmonary bypass for neonatal and infant cardiac surgery.

The development and refinement of cardiopulmonary bypass (CPB) has made the repair of complex congenital heart defects possible in neonates and infants. In the past, the primary goal for these procedures was patient survival. Now that substantial survival rates have been achieved for even the most complex of repairs in these patients, focus has been given to the reduction of morbidity. Although a necessity for these complex neonatal and infant heart defect repairs, CPB can also be an important source of perioperative complications. Recent innovations have been developed to mitigate these risks and is the topic of this review. Specifically, we will discuss improvements in minimizing blood transfusions, CPB circuit design, monitoring, perfusion techniques, temperature management, and myocardial protection, and then conclude with a brief discussion of how further systematic improvements can be made in these areas.

Launching a New Strategy for Multidisciplinary Management of Single-Ventricle Heart Defects

Children born with single-ventricle heart defects, particularly hypoplastic left heart syndrome, have a lifetime high risk of mortality and comorbidities. They have complex medical challenges in addition to their cardiac needs, including growth and feeding complications and neurodevelopmental issues. These concerns require a coordinated effort among specialties to help patients maximize their potential. Additionally, because many complex heart defects are diagnosed prenatally, coordination of care between the pre- and postnatal care teams is imperative. Nursing leadership improves program coordination and efficiency. The purpose of this article is to describe the development and implementation of our hospital's synchronized, multidisciplinary team to support children with single-ventricle heart defects and their families. (Critical Care Nurse. 2018;38[1]:60-71).

Classifying Heterotaxy Syndrome

Heterotaxy syndrome is a complex set of abnormalities related to abnormal left–right axis patterning. Although rare (occurring in just over 1 in 10 000 live births1), congenital heart defects associated with heterotaxy syndrome carry a disproportionate burden of morbidity and mortality.2,3 Despite numerous investigations on the genetic underpinning, epidemiology, anatomic pathology, diagnostic imaging, and management, agreement regarding the best method to classify patients with heterotaxy continues to elude our field.4 Specifically, a growing body of experience has noted that the 2 most common methods of classifying patients with heterotaxy—based on the status of the spleen or on the morphology of the atrial appendages—is frequently incongruent with the expected pattern of cardiac and noncardiac anomalies,5 is difficult to ascertain clinically, and may not be helpful in guiding clinical management.2–4 See Article by Yim et al In this issue of Circulation: Cardiovascular Imaging , Yim et al6 provide further evidence that the prevailing classification schemes used in heterotaxy syndrome are flawed. In a retrospective analysis of noninvasive imaging data from 114 patients with heterotaxy, they noted that the classic pattern of isomerism was breached in 1 of every 5 patients. Furthermore, they documented the limited clinical utility of relying on atrial appendage morphology or the status of the spleen and …

Autopsy findings of a child with left atrial isomerism associated with pulmonary agenesis

ABSTRACT Isomerism is a rare laterality defect. Our aim was to describe the autopsy findings of a child with left atrial isomerism (LAI) and pulmonary agenesis (PA), an association still not described in the literature. Fetal ultrasound revealed right renal agenesis, single umbilical artery and polyhydramnios. Echocardiography revealed a complex heart defect with LAI. The child died minutes after birth. Autopsy confirmed the prenatal findings and revealed the presence of unilateral PA, complex vascular abnormalities and polysplenia. Despite its rarity, health professionals should be aware for the possibility of such an association.

Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia

Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate. Imperforate anus was detected after birth. Compound heterozygous RAD51C variants c. [571+5G > A]; [c.935G > A] were detected by prenatal whole exome sequencing and cellular hypersensitivity to DNA interstrand crosslinking agents (DEB, MMC) was confirmed after birth. With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers.

EP04.32: Left atrial isomerism (LAi) without serious heart defect: first trimester diagnosis and delayed postnatal development of the heart block at the age of 11 months

Left atrial isomerism (LAi) represents a wide spectrum of fetal situs and cardiac anomalies. Whereas severe forms of LAi are easily detectable even at early stages of pregnancy, diagnosis of mild forms of LAi is challenging. We present a case of first-trimester diagnosis of LAi without complex heart defect, which ended in persistent bradycardia at the age of 11 months postnatally. The 24-year-old mother presented for routine ultrasound examination at 13 weeks (CRL 73 mm) in her first pregnancy. On the scan middle-positioned stomach and interruption of the inferior vena cava with azygos continuation were detected. The views of the heart were normal and the fetus had normal sinus rhythm. NT thickness was 1.8 mm and the mother had low risk chromosomal screening. The findings were suspicious for LAi. After appropriate counselling, the parents opted to continue the pregnancy. At 19 weeks the previous findings were confirmed and persistent right umbilical vein and small VSD were detected. The pregnancy was followed by regular scans and fetal heart rate remained normal sinus. After the birth the diagnosis of LAi was confirmed. At the time of writing the child is 16 months of age. The child has persistent bradycardia of 70 beats per minute, which manifested at 11 months of infancy and is waiting for pacemaker implantation. Small VSD has tendency for spontaneous closure. Examination of gastrointestinal tract has confirmed middle position of the stomach and has not revealed significant intestinal malrotation. Polysplenia was seen on abdominal scan. This case provides an evidence that typical for LAi heart block resulting in persistent bradycardia can develop postnatally. This case illustrated feasibility of identification of minor LAi features in the first trimester. Early detection is critical for proper counselling and planning of antenatal and postnatal cardiac follow-up in order to exclude associated heart anomalies and development of the heart block.

Double aortic arch anomalies in Children: A Systematic 20‐Year Single Center Study

Aortic arch anomalies underlie numerous congenital disorders. Effectively diagnosing and treating them requires close understanding of cardiovascular embryology. As our Center serves the entire pediatric population of our country, we performed a comprehensive retrospective analysis of all aortic arch anomalies diagnosed at our Center over the past 20 years. We analyzed 40 children with aortic arch anomalies, distinguishing two defect types: Group 1 displayed ring-forming anomalies, and Group 2 other types of aortic arch anomalies that did not form a vascular ring. We performed detailed morphological analyses using echocardiography, angiography, computed tomography, or magnetic resonance imaging and generated a catalog of all aortic arch anomalies present. Group 1 was represented by 25 patients; 40% with persistent both aortic arches, and 60% with various forms of right aortic arch and an incomplete left aortic arch. Group 2 was represented by 15 patients with complex heart defects. On the basis of our dataset, the incidence of all aortic arch anomalies was 0.033%, and of ring-forming pathologies 0.021%. Although aortic arch anomalies are rare, it is important to diagnose them correctly. It is critical to distinguish ring-forming types. Although in complex defects the aortic arch anomaly represents only an additive diagnosis, its correct definition could be crucial for further management. Cumulatively, this unique, long-term study provides a systematic patient registry and offers critical epidemiological data to aid the study of rare congenital cardiovascular defects. Clin. Anat. 30:929-939, 2017. © 2017 Wiley Periodicals, Inc.

Computational fluid dynamics characterization of pulsatile flow in central and Sano shunts connected to the pulmonary arteries: importance of graft angulation on shear stress-induced, platelet-mediated thrombosis

Central (aorta) and Sano (right ventricle)-to-pulmonary artery (PA) shunts, palliative operations for infants with complex heart defects, can develop life-threatening thrombosis. We employed computational fluid dynamics (CFD) to study pulsatile flow in these shunts, with the goal to identify haemodynamic characteristics conducive to thrombus formation. CFD, using the finite volume method with cardiac catheterization data, and computer simulations, based on angiography, were employed to determine flow-velocity field, wall shear stress (WSS) profile and oscillatory shear index (OSI). At prominent angulation, in central shunts (4 and 3.5 mm), WSS reached 245 and 123 (Pascal-Pa), peak systole and 137 and 46 Pa, end diastole; and, in Sano shunts (5 and 6 mm), WSS attained 203 and 133 Pa, peak systole and 1.6 and 1.5 Pa, end diastole. Counter-rotating flow vortices augmented WSS. These high WSSs can promote platelet aggregation, leading to thrombus formation. The OSIs averaged 0.39, indicative of multidirectional shearing forces. Shunt burden was assessed by averaging WSS, over its luminal area and the cardiac cycle. For the central shunts, these WSSs were 73.0 and 67.2 Pa; whereas, for the Sano shunts, 34.9 and 19.6 Pa. For modified Blalock-Taussig shunts (4 and 3.5 mm), the averaged WSSs were significantly lower at 26.0 and 27.5 Pa, respectively. CFD modelling is an important tool to determine blood flow behaviour in shunts. Graft angulation presents a risk for shear stress-induced, platelet- mediated thrombosis, which is more likely to occur in elongated central than in Sano shunts.

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction

ObjectiveClarification of the molecular basis of a ciliopathy associated with molar-incisor malformation in a consanguineous Turkish family. DesignFull dental and clinical examinations, histologic analysis, comprehensive genetic analyses including exome sequencing, ciliary function tests and transmission electron microscopy of ciliary biopsies in the surviving patient. ResultsTwo siblings had situs inversus and complex heart defects suggestive of ciliary dysfunction. The affected girl who died in utero showed severe chest abnormalities compatible with Jeune syndrome which were not present in the affected boy. Dental investigations in the boy showed typical signs of molar-incisor-malformation. Exome sequencing identified a homozygous intragenic deletion in TCTEX1D2 which is predicted to completely remove protein function. Ciliary function tests and electron microscopy showed mild irregularities of motile cilia such as compound cilia and loss of membranes. ConclusionsOur findings support the suggestion that TCTEX1D2 mutations have variable expressivity and may be associated with disturbances of embryonic development caused by both, ciliary signaling and motile dysfunction. The presence of molar-incisor-malformation in the living patient raises the possibility of a pathogenetic link of this rare dental anomaly to ciliary dysfunction during tooth development at least in some individuals.

Evaluation of Congenital Heart Defects Treatment Options-Establishment of Pediatric Cardiology/Cardiosurgery in Bosnia and Herzegovina.

Introduction:Modern pediatric cardiology mainly deals with congenital heart defects (CHD), as the most common congenital anomalies. In most cases CHD requires surgical or interventional treatment.Goal:The goal of the research was to evaluate CHD treatment at Pediatric Clinic, University Clinical Center (UCC) Sarajevo, Bosnia and Herzegovina (B&H). UCC Sarajevo is the only institution in B&H where cardiac treatment of CHD in pediatric population is performed. Pediatric cardiosurgery has started to develop in Bosnia and Herzegovina in April 1997.Patients and methods:Study included 745 patients (period from April 1997 to January 2017).Results:Cardiac treatment was performed on 745 patients with CHD, 541 (72.6%) of them were acyanotic patients and 204 (27.4%) were cyanotic patients. Reoperation was performed in 49 (6.5%) of patients. Out of total number of patients, 59 (7.9%) died. In 660 children (88.5%) a complete correction and in 85 (11.5%) a palliative operation/correction was performed. Defects with left to right shunt were present in 397 (53.2%) patients, complex heart defects with Tetralogy of Fallot in 173 (23.2%), obstructive heart defects in 106 (14.2%), obstructive heart defects with shunt in 53 (7.1%), and others in 16 (2.1%) of patients. During surgery, extracorporeal circulation was regulated in 554 (74.3%) patients. Peri and early postoperative complications occurred in 180 (24.1%) of patients. During this period 24 pacemakers were implanted and 24 radiofrequency ablations were performed.Conclusion:Results of CHD cardiac treatment in childhood, which took place simultaneously, followed by the contractual joint programs and individual work of the Bosnian and Herzegovinian team has reached the highest level in the last two years, not only by the number, type and complexity of corrected CHD, but also by the age and body weight of the patients who underwent surgery, and development of invasive procedures, arrhytmology, pacemaker placement, intensive peri and postoperative treatment. That led pediatric cardiac surgery of UCC Sarajevo, to a position of leading center in the region.

A clinical case of corrected transposition of the great vessels

Corrected transposition of the great arteries is a congenital heart defect that is rarely encountered in medical practice. The problem of diagnosing this abnormality of the cardiovascular system is due to the absence of hemodynamic disorders and clinical manifestations for a long time. The paper describes a clinical case of a complex heart defect occurring virtually asymptomatically. Echocardiography that allows timely diagnosis and adequate treatment plays a crucial role.

Abstract 11277: Computational Fluid Dynamics Characterization of Pulsatile Flow in Patient Specific Central and Sano Shunts: Relevance to Shear-Stress Induced, Platelet-Mediated Thrombosis

Introduction: Central shunts (aorta) and Sano shunts (right ventricle) connected to the pulmonary arteries (PAs) are vital operations for infants with complex heart defects. However, they can become thrombosed. Hypothesis: At sites of prominent angulation, flow augments wall shear stress (WSS), a determinate of platelet-mediated thrombosis. Methods: We employed a patient-based computational model (Fluent) of pulsatile flow (viscosity 5 cPa-s), using a finite volume method and cardiac catheterization data, and geometric simulations (Autodesk Inventor), using angiography, to study flow behavior and WSS. Two central (4.0 and 3.5 mm) and Sano (5 and 6 mm) shunts were assessed. At the inlet to the central and Sano shunts, ascending aorta (AAo, 87/40 and 93/35 mmHg) and right ventricle (RV, 99/10 and 84/10 mmHg) pressures were used, respectively. At the outlets, measured PA pressures were used. Results: For central shunts, Fig 1, WSS reached 245 Pa and 123 Pa, peak systole. For Sano shunts, Fig 2, WSS attained 203 Pa and 133 Pa, peak systole. At sites of angulation, we identified flow vortices augmenting WSS (&gt;100 Pa), and downstream regions of flow stagnation and recirculation, which are conducive to platelet aggregation and thrombus formation. Shunt burden, assessed by averaging WSS over the luminal surface of the shunts and the cardiac cycle, was 73.0 Pa and 67.2 Pa for central shunts, and 34.9 Pa and 19.6 Pa for Sano shunts. Conclusions: Our results indicate central shunts present a higher risk for thrombosis than Sano shunts. Importantly, WSS induced, platelet-mediated thrombosis is insensitive to aspirin, as the process does not involve the cyclooxygenase pathway.

EP07.09: The influence of the method of parsing complex heart defects to the success of prenatal diagnostic evaluation

EP07.09: The influence of the method of parsing complex heart defects to the success of prenatal diagnostic evaluation

Prenatal diagnosis of 1p36.3 microdeletion in a fetus with complex heart defect

To analyze a fetus presenting with complex heart defect and assess the recurrence risk. Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and his parents. SNP-array has detected a 6.9 Mb microdeletion at 1p36.33-p36.23 in the fetus. Chromosomal and FISH analyses indicated that the father of the fetus had a karyotype of 46,XY,t(1;14)(p36.3;p12), and that the fetus has inherited an abnormal chromosome 1 derived from the paternal translocation. SNP-array combined with GTG banding and FISH can help to detect cryptic translocation, microdeletion or microduplication of chromosomes and is valuable to assess the recurrence risk for the affected family.

Senning operation as a palliative therapy for a girl with complex heart defect and Eisenmenger syndrome (RCD code: II-1A.4d)

Development of irreversible pulmonary hypertension in D-transposition of the great arteries (D-TGA) with ventricular septal defect (VSD) is a well-known phenomenon. Coexistence of left ventricular outflow tract obstruction (LVOTO) should theoretically protect the patient against pulmonary arterial hypertension (PAH). Application of the Blalock-Taussig shunt (B-TS) temporarily improves condition of the patient, but may contribute to irreversible PAH requiring palliative complex therapy. We present a case of a 18 year-old female with congenital complex heart defect: D-TGA with inflow VSD and subpulmonary stenosis, Eisenmenger syndrome, who was treated with several subsequent palliative cardiosurgical operations, including B-TS and Senning procedure and eventually, combined PAH-specific therapy, what resulted in stabilization of clinical status. JRCD 2016; 3 (1): 14–16

Patient-Reported Health in Young People With Congenital Heart Disease Transitioning to Adulthood

PurposeBecause life expectancy of patients with congenital heart disease (CHD) has increased substantially, assessment of patient-reported health is seen as an important component in the follow-up. Therefore, we (1) examined patient-reported health status of young people with CHD from a longitudinal perspective; (2) compared patient-reported health of patients with that of controls from the general population; and (3) investigated longitudinal interrelationships among various domains of patient-reported health. MethodsWe included 429 patients with CHD (aged 14–18 years) in a longitudinal study with four measurement points. Patient-reported health status was measured using a linear analog scale for self-rated health and the Pediatric Quality of Life Inventory (PedsQL). ResultsSelf-rated health was good, with mean scores that slightly decreased from 81.78 to 78.90 from Time 1 to Time 4. PedsQL scores were also good, with the highest scores obtained for physical functioning. Patients with mild heart defects consistently reported higher scores on self-rated health and PedsQL than the general population. The scores of patients with complex heart defects were generally lower than those of the general population. Cross-lagged path analyses demonstrated that symptoms, cognitive functioning, and communication problems constituted the most consistent predictors of perceived health domains over time. ConclusionsPatient-reported health was considerably good. Domains of patient-reported health that deserve specific attention are symptoms, cognitive functioning, and communication problems. Intervening in these three domains may yield indirect benefits on other health status domains and may improve the overall perceived health status of young people with CHD.

Problems in the diagnosis of discordant atrioventricular with concordant ventriculo-arterial connections: anatomical considerations, surgical management, and long-term outcome.

Discordant atrioventricular with concordant ventriculo-arterial connections is a rare cardiac defect. When isolated, the haemodynamics resemble transposition of the great arteries. In complex heart defects such as heterotaxy, haemodynamics guide the surgical approach. To report a series of eight patients with discordant atrioventricular and concordant ventriculo-arterial connections focussing on anatomical and diagnostic difficulties, surgical management, and follow-up. A retrospective review was carried out from 1983 to 2013. Anatomical description was based on segmental analysis. Emphasis was placed on the venoatrial connections. Segmental arrangement was {I, D, S} in six patients, all with spiralling great vessels. There were two patients with parallel great vessels of whom one had {S, L, D} and the other had {S, L, A} arrangement. Of eight patients, five had heterotaxy syndrome. Median age at repair surgery was 1.4 years (with a range from 1.1 months to 8.1 years). The repair surgery finally performed was the atrial switch procedure in seven out of eight patients. The main post-operative complications were two cases of baffle obstruction and one sick sinus syndrome needing pacemaker implantation. There were two early post-operative deaths and six late survivors. Median follow-up was 4.2 years (with a range from 3.9 to 26.7 years) with good functional status in all survivors. Discussion Diagnosing discordant atrioventricular with concordant ventriculo-arterial connections remains challenging. There are ongoing controversies about the definition of atrial morphology and heterotaxy syndrome animating the anatomic discussion of these complex heart defects. Haemodynamically, the atrial switch procedure is the surgical method of choice with an encouraging long-term follow-up despite rhythm disturbances and baffle obstruction.