Congenital Cardiovascular Defects Research Articles

Patients with a Bicuspid Aortic Valve (BAV) Diagnosed with ECG-Gated Cardiac Multislice Computed Tomography-Analysis of the Reasons for Referral, Classification of Morphological Phenotypes, Co-Occurring Cardiovascular Abnormalities, and Coronary Artery Stenosis.

Background/Objectives: The aim of this study was to analyze a group of patients with a bicuspid aortic valve (BAV) examined with ECG-gated cardiac CT (ECG-CT), focusing on the assessment of the clinical reasons for cardiac CT, cardiovascular abnormalities coexisting with their BAV, and coronary artery stenosis. Methods: A detailed statistical analysis was conducted on 700 patients with a BAV from a group of 15,670 patients examined with ECG-CT. Results: The incidence of a BAV in ECG-CT was 4.6%. The most common reason for examination was suspicion of coronary heart disease-31.1%. Cardiovascular defects most frequently associated with a BAV were a VSD (4.3%) and coarctation of the aorta (3.6%), while among coronary anomalies, they were high-take-off coronary arteries (6.4%) and paracommissural orifice of coronary arteries (4.4%). The analysis of the coronary artery calcium index showed significantly lower values for type 2 BAV compared to other valve types (p < 0.001), with the lowest average age in this group of patients. Moreover, the presence of a raphe between the coronary and non-coronary cusps was associated with a higher rate of significant coronary stenosis compared to other types of BAVs (p < 0.001). Conclusions: The most common reason for referral for cardiac ECG-CT in the group ≤ 40-year-olds with a BAV was the suspicion of congenital cardiovascular defects, while in the group of over 40-year-olds, it was the suspicion of coronary artery disease. The incidence of cardiovascular abnormalities co-occurring with BAV and diagnosed with ECG-CT differs among specific patient subgroups. The presence of a raphe between the coronary and non-coronary cusps appears to be a potential risk factor for significant coronary stenosis in patients with BAVs.

Single-cell RNA sequencing and ATAC sequencing identify novel biomarkers for bicuspid aortic valve-associated thoracic aortic aneurysm.

Bicuspid aortic valve (BAV) is the most prevalent congenital cardiovascular defect and known to cause thoracic aortic aneurysms (TAAs). To improve our understanding of BAV pathogenesis, we characterized the cellular composition of BAV tissues and identified molecular changes in each cell population. Tissue samples from two patients with BAV and two heart transplant donors were analyzed using single-cell RNA sequencing, assay for transposase-accessible chromatin using sequencing, and weighted gene coexpression network analysis for differential gene analysis. TAA-related changes were evaluated by comparing the proportion of each cell type and gene expression profiles between TAA and control tissues. Further, by combining our single-cell RNA sequencing data with publicly available data from genome-wide association studies, we determined critical genes for BAV. We found 20 cell subpopulations in TAA tissues, including multiple subtypes of smooth muscle cells, fibroblasts, macrophages, and T lymphocytes. This result suggested that these cells play multiple functional roles in BAV development. Several differentially expressed genes, including CD9, FHL1y, HSP90AA1, GAS6, PALLD, and ACTA2, were identified. We believe that this comprehensive assessment of the cellular composition of TAA tissues and the insights into altered gene expression patterns can facilitate identification of novel diagnostic biomarkers and therapeutic targets for BAV-associated TAA.

Treatment of long-segment congenital tracheal stenosis with congenital cardiovascular defects in infancy.

This study aims to evaluate the outcomes of simultaneous repair for infants with long-segment congenital tracheal stenosis (LSCTS) with congenital cardiovascular defects (CCD). We retrospectively reviewed the clinical data of infants aged less than 1 year with LSCTS and CCD who underwent simultaneous repair at Children's Hospital of Chongqing Medical University from January 2020 to March 2023. A systematic search of PubMed, Embase, and Cochrane Library for the relevant published studies that reported the simultaneous repair of CTS and CCD in infancy was conducted in March 2023. The inverse variance method of DerSimonian-Laird (D+L) was used for estimate synthesis. A total of thirteen infants with a mean age of 5.6±3.1 months and a mean weight of 6.4±0.9Kg underwent slide tracheoplasty with modified procedures and cardiovascular operations. LSCTS was diagnosed in all thirteen patients. Nine infants were ventilator dependent, and four patients were operated on due to persistent wheezing and recurrent respiratory infections. Seven patients underwent pulmonary artery sling repair, and six underwent atrial septal defect repair. All infants were repaired utilizing cardiopulmonary bypass (CPB) support. Significant complications were recorded in three patients. In-hospital deaths were seen in one case. The median tracheal minimum diameter of hospital survivors was significantly larger than the preoperative minimum diameter (p<0.001). The mean follow-up duration was 17.1±7.1 months. There was no late mortality during the follow-up. Twelve studies were included based on our search strategy. The pooled estimate of mortality in the literature was 10.9% (95%CI, 5.3%-17.7%, I2=0). The pooled estimate of airway re-interventions was 28.8% (95%CI, 14.5%-43.2%, I2=74%). Simultaneous repair of LSCTS and CCD in infancy is safe and effective. Slide tracheoplasty with appropriate technical modifications may be valid for LSCTS repair without significant restenosis and reinterventions.

Aortic Remodeling Kinetics in Response to Coarctation-Induced Mechanical Perturbations.

Background: Coarctation of the aorta (CoA; constriction of the proximal descending thoracic aorta) is among the most common congenital cardiovascular defects. Coarctation-induced mechanical perturbations trigger a cycle of mechano-transduction events leading to irreversible precursors of hypertension including arterial thickening, stiffening, and vasoactive dysfunction in proximal conduit arteries. This study sought to identify kinetics of the stress-mediated compensatory response leading to these alterations using a preclinical rabbit model of CoA. Methods: A prior growth and remodeling (G&R) framework was reformulated and fit to empirical measurements from CoA rabbits classified into one control and nine CoA groups of various severities and durations (n = 63, 5-11/group). Empirical measurements included Doppler ultrasound imaging, uniaxial extension testing, catheter-based blood pressure, and wire myography, yielding the time evolution of arterial thickening, stiffening, and vasoactive dysfunction required to fit G&R constitutive parameters. Results: Excellent agreement was observed between model predictions and observed patterns of arterial thickening, stiffening, and dysfunction among all CoA groups. For example, predicted vascular impairment was not significantly different from empirical observations via wire myography (p-value > 0.13). Specifically, 48% and 45% impairment was observed in smooth muscle contraction and endothelial-dependent relaxation, respectively, which were accurately predicted using the G&R model. Conclusions: The resulting G&R model, for the first time, allows for prediction of hypertension precursors at neonatal ages that is currently challenging to examine in preclinical models. These findings provide a validated computational tool for prediction of persistent arterial dysfunction and identification of revised severity-duration thresholds that may ultimately avoid hypertension from CoA.

A Study to Assess the Knowledge Regarding Lifestyle Modifications Among the Cardiac Patients in NMCH, Jamuhar, Sasaram, Rohtas (Bihar)

Introduction: Essentially a pump, the heart is a muscle made up of four chambers separated by valves and divided into two valves. Each half contains one chamber and first half is called an atrium and the other half is called a ventricle. The atria collect blood, and the ventricles contract to push blood out of the heart. There are many Disease coming under the cardiovascular disorder Hypertension, myocardial infarction, coronary artery disease, rheumatic heart disease, arrhythmias, stroke and congenital cardiovascular defects. IN recent year, Non- Communicable Disease (NCDs) are also one of the biggest threats to humanity by causing significant mortality and morbidity worldwide including Low and Middle income countries (LMICs). Aim Of The Study: To assess the level of knowledge regarding lifestyle modifications . Methodology: The Cross sectional research is conducted using group of Cardiac patient in NMCH Jamuhar, Sasaram, Rohtas , Bihar from 6/02/2023 to 11/02/2023. A self structured questionnaire tool was used to assess the knowledge regarding lifestyle modification among 60 Cardiac Patients adopting Convenient sampling technique. Results: There are 60 cardiac patients sample, (23.33%) patient have good knowledge, (53.34%) patient have average knowledge, and ( 23.33%) patient have poor knowledge. This shows that these variables had influenced knowledge in this study. No association was found. Conclusion: The present study was aimed at assessing the knowledge regarding lifestyle modifications among the cardiac patients in NMCH, Jamuhar, Sasaram, Rohtas (Bihar)’’.The relevant data was collected statistically based on objectives of the study. There are 60 cardiac patients sample, (23.33%) patient have good knowledge, (53.34%) patient have average knowledge, and ( 23.33%) patient have poor knowledge. This shows that these variables had influenced knowledge in this study.

New computational approach to shunt design in congenital heart palliation

Shunts are commonly used to redirect blood to pulmonary arteries in procedures that palliate congenital cardiovascular defects. Previous clinical studies and hemodynamic simulations reveal a critical role of shunt diameter in balancing flow to pulmonary versus systemic vessels, but the biomechanical process of creating the requisite anastomosis between the shunt and host vessel has received little attention. Here, we report a new Lagrange multiplier-based finite element approach that represents the shunt and host vessels as individual structures and predicts the anastomosis geometry and attachment force that result when the shunt is sutured at an incision in the host, followed by pressurization. Simulations suggest that anastomosis orifice opening increases markedly with increasing length of the host incision and moderately with increasing blood pressure. The host artery is further predicted to conform to common stiff synthetic shunts, whereas more compliant umbilical vessel shunts should conform to the host, with orifice area transitioning between these two extremes via a Hill-type function of shunt stiffness. Moreover, a direct relationship is expected between attachment forces and shunt stiffness. This new computational approach promises to aid in surgical planning for diverse vascular shunts by predicting in vivo pressurized geometries.

Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review.

To share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, and intrauterine monitoring of the fetuses of this disease. The study retrospectively evaluated 14 cases of WBS diagnosed prenatally by single nucleotide polymorphism array (SNP-array). Clinical data from these cases were systematically reviewed, including maternal demographics, indications for invasive prenatal diagnosis, ultrasound findings, SNP-array results, trio-medical exome sequencing (Trio-MES) results, QF-PCR results, pregnancy outcomes and follow-ups. A total of 14 fetuses were diagnosed with WBS and their prenatal phenotypes were assessed retrospectively. In our case series, the most common ultrasound features were intrauterine growth retardation (IUGR), congenital cardiovascular defects, abnormal fetal placental doppler indices, thickened nuchal translucency(NT) and polyhydramnios. Other less common ultrasound features include fetal hydrops, hydroderma, bilateral pleural effusion, subependymal cysts, etc. Parental chromosome analysis was performed in seven pairs of parents, and all the deletions on chromosome 7q11.23 were de novo. Prenatal ultrasound features of WBS cases are highly variable, with IUGR, cardiovascular abnormalities and abnormal fetal placental doppler indices, being the most common intrauterine phenotypes. Our case series expand the intrauterine phenotypes of WBS, including cardiovascular abnormalities right aortic arch(RAA) combined with persistent right umbilical vein(PRUV) and elevated the ratio of end-systolic peak flow velocity to end-diastonic peak flow velocity(S/D). In the meantime, with the decrease in the cost of the next-generation sequencing, the method may become widely used in prenatal diagnosis in the near future.

Wolf-Hirschhorn syndrome with intrauterine growth restriction in a fetus: A case report

Introduction: Wolf-Hirschhorn syndrome (WHS), a genetic syndrome caused by deletion of the short arm of chromosome 4 (4p), is clinically characterized by “Greek warrior helmet” facial appearance, growth retardation, intellectual disability, seizures, skeletal anomalies, congenital cardiovascular defects, and other systemic defects. The severity of the WHS phenotype is related to the size of the missing 4p terminal fragment. In this article, we report and analyze a case of atypical WHS manifestations that revealed a 21-Mb deletion of the 4p terminal fragment in prenatal amniotic fluid examination by copy number variation sequencing (CNV-seq). Patient concerns: In our case, the fetal ultrasound results presented with intrauterine growth restriction and ocular hypertelorism and were characterized by atypical manifestations such as persistent left superior vena cava, nuchal fold thickness, and extrahepatic portosystemic shunt at 21 + 6 weeks of gestational age. Diagnosis: A fetus with WHS was detected by noninvasive prenatal screening and further diagnosed by chromosome karyotype analysis and CNV-seq. Interventions: After genetic counseling, the couple opted to terminate her pregnancy. Outcomes: Cytogenetic examination of the fetus revealed karyotype 46,XX,del(4)(p15.3). The CNV results showed a 21-MB deletion at the 4p16.3-p15.31 locus. Lessons: The WHS phenotype is atypical in fetuses. Prenatal molecular genetic testing combined with ultrasound screening is an effective method for diagnosing fetal WHS and can help clinicians offer subsequent clinical genetic counseling, manage fetal WHS, and guide the next pregnancy.

Abstract P3095: Correlating Spatial Wall Shear Stress With Transcriptomics In Pre-calcific Stages Of Bicuspid Aortic Valve Disease

Bicuspid aortic valve (BAV) is the most common congenital cardiovascular defect and characterized by formation of two, rather than three cusps. Approximately 50% of young adults with BAV prematurely develop calcification and significant stenosis, which is typically more severe in right/non-coronary (R/NC) fusion. Mechanisms underlying this process are unknown. However, based on BAV-induced narrowing of the valve orifice and obstruction of blood flow, it has been speculated that abnormal biomechanical stimuli play a major role. Despite this, validation studies correlating these stimuli to molecular changes that promote calcification in BAV are lacking. Our objective is to define biomechanical stimuli in young patients and mice with R/NC BAV prior to calcification onset, and further use the murine model to correlate biomechanical indices with transcriptomic changes indicative of mechanosensitive regulators of calcification.Fluid-structure interaction (FSI) models and quantified biomechanical indices (wall shear stress (WSS), von Mises stress) are being generated from echocardiography and MRI from young adults and NfatC1 cre(+) ;Exoc5 fl/+ mice with R/NC BAV, and age-matched tricuspid aortic valve controls. In parallel, tissue sections collected from diseased mice are being subject to spatial transcriptomics (10x Visium) to determine the localization of differentially expressed genes relative to abnormal biomechanical stimuli. FSI results from a 23 y/o BAV patient indicate that cusp fusion leads to higher WSS on the fibrosa surface compared to the control, and high von Mises stress at the fusion site, both of which are regions prone to calcification in humans. To date, we have identified aortic valve stenosis in 25% NfatC1 cre(+) ;Exoc5 fl/+ mice, and spatial transcriptomics in these mice is currently underway. To our knowledge these are the first FSI models to characterize biomechanical stimuli for a young adult with R/NC BAV prior to calcification. Our FSI studies in mice will validate the use of a mouse model to study human disease by comparison of biomechanical indices. Furthermore, parallel transcriptomic studies in BAV mice will allow us to correlate biomechanical stimuli with transcriptomic changes underlying premature calcification.

Abstract EC102: RBPMS, An RNA-binding Protein That Mediates Cardiomyocyte Binucleation And Cardiovascular Development

Noncompaction cardiomyopathy is a common congenital cardiac disorder associated with abnormal ventricular cardiomyocyte trabeculation and impaired pump function. The genetic basis and underlying mechanisms of this disorder remain elusive. We show that genetic deletion of RNA binding protein with multiple splicing (Rbpms), an uncharacterized RNA binding and splicing factor, causes perinatal lethality in mice due to congenital cardiovascular defects, including noncompaction cardiomyopathy, ventricular septal defects, and patent ductus arteriosus. Loss of Rbpms causes premature onset of cardiomyocyte binucleation and cell cycle arrest during development, thus disturbing embryonic heart growth. Human iPSC-derived cardiomyocytes with RBPMS gene deletion have a similar blockade to cytokinesis, and Rbpms expression is decreased in human patients with congenital cardiomyopathy, implicating an essential role of Rbpms in human heart development. Paired-end RNA sequencing analysis revealed that RBPMS plays a role in RNA splicing and influences RNAs involved in cytoskeletal signaling pathways. We found that RBPMS mediates isoform switching of the heart-specific LIM domain protein Pdlim5. Loss of Rbpms leads to abnormal accumulation of Pdlim5-short isoforms, disrupting cardiomyocyte cytokinesis. Our findings connect premature cardiomyocyte binucleation to noncompaction cardiomyopathy and highlight the role of Rbpms in this process.

RBPMS is an RNA-binding protein that mediates cardiomyocyte binucleation and cardiovascular development.

Noncompaction cardiomyopathy is a common congenital cardiac disorder associated with abnormal ventricular cardiomyocyte trabeculation and impaired pump function. The genetic basis and underlying mechanisms of this disorder remain elusive. We show that the genetic deletion of RNA-binding protein with multiple splicing (Rbpms), an uncharacterized RNA-binding factor, causes perinatal lethality in mice due to congenital cardiovascular defects. The loss of Rbpms causes premature onset of cardiomyocyte binucleation and cell cycle arrest during development. Human iPSC-derived cardiomyocytes with RBPMS gene deletion have a similar blockade to cytokinesis. Sequencing analysis revealed that RBPMS plays a role in RNA splicing and influences RNAs involved in cytoskeletal signaling pathways. We found that RBPMS mediates the isoform switching of the heart-enriched LIM domain protein Pdlim5. The loss of Rbpms leads to an abnormal accumulation of Pdlim5-short isoforms, disrupting cardiomyocyte cytokinesis. Our findings connect premature cardiomyocyte binucleation to noncompaction cardiomyopathy and highlight the role of RBPMS in this process.

Quadricuspid Aortic Valve: An Introduction for Clinicians.

Quadricuspid aortic valve (QAV) is a congenital heart anomaly in which the aortic valve has four cusps of various size possibilities, as opposed to the three symmetrical cusps generally observed. This cardiac valvular abnormality is rarely identified, with an estimated incidence rate of 0.013% to 0.043%, although recent technological advancements in diagnostics have contributed to an increase in detection. Historically, it had been typically encountered during open heart surgery or postmortem; however, it is presently diagnosed primarily via ultrasound echocardiography, and could go undetected unless specifically considered. It was first reported by Babington in 1847, and since then approximately 300 cases have been published. This condition is sporadically associated with additional congenital cardiovascular defects, with coronary artery irregularities being the most common. In more than half of published QAV incidences it has led to the progressive development of aortic regurgitation (AR) usually sans aortic stenosis, particularly amongst elderly patients, often requiring surgical intervention after 50 years of age. A fifth of total instances, but two-thirds of instances with AR, warrant surgery seldom amidst complications, with reconstructive tricuspidization preferred over valve replacement.

22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation

BackgroundChromosomal 22q11.2 dosage changes in the recurrent region can lead to a series of clinically variable pediatric syndromes. This study conducted a retrospective analysis of microarray tested cases with 22q11.2 recurrent copy number variations (CNVs) at our laboratory from September 2018 to August 2021, and provides a systematical clinical overview of ClinGen curation.MethodsThe data of 34 microarray tested cases with 22q11.2 recurrent CNVs at our laboratory from September 2018 to August 2021 were retrospectively analyzed, and the variant types, abnormal chromosome regions, clinical phenotypes, and follow-up information were evaluated and summarized. A ClinGen Dosage Sensitivity Map was retrieved for “22q11.2”. The information of each 22q11.2 recurrent region was collected and systematically classified.ResultsWe reported 34 cases (including 18 22q11.2 microdeletion cases and 16 microduplication cases) from 8,465 microarrays. Of the 22q11.2 recurrent CNV-carried samples, 74% (25/34) comprised prenatal amniotic fluid or villus, and up to 50% (17/34) of the cases contained the proximal A–D interval. Across these 22q11.2 microdeletion samples, the congenital cardiovascular defect, which mainly included the tetralogy of fallot, ventricular septal defect, and patent foramen ovale, was identified as the most common feature (13/18, 72%). However, 22q11.2 microduplication cases exhibited a broad range of highly variable phenotypes, spanning from severe abnormality to mild characteristics and even the completely normal phenotype. This study also systematically reviewed the ClinGen dosage sensitivity curation on 22q11.2 recurrent regions, and found that A–D/A–B haploinsufficiency score reached “3”, responsible for DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS). Also, A–D/A–B triplosensitivity score “3” could further account for multiple variable phenotypes.ConclusionsTaken together, this study provides clinical overview of the ClinGen curation and data support for the American College of Medical Genetics and Genomics (ACMG) evaluation in the pathogenicity of each interval involved in 22q11.2 recurrent deletion and duplication. Certainly, more evidences on the genotype-phenotype contributions of different 22q11.2 recurrent CNVs need to be gathered.

Congenital Tracheal Stenosis as a Complication of a Congenital Cardiovascular Defect

Congenital Tracheal Stenosis as a Complication of a Congenital Cardiovascular Defect

RBPMS, an RNA-Binding Protein That Mediates Cardiomyocyte Binucleation and Cardiovascular Development

SummaryNoncompaction cardiomyopathy is a common congenital cardiac disorder associated with abnormal ventricular cardiomyocyte trabeculation and impaired pump function. The genetic basis and underlying mechanisms of this disorder remain elusive. We show that genetic deletion of R NA b inding p rotein with m ultiple s plicing ( Rbpms ), an uncharacterized RNA binding and splicing factor, causes perinatal lethality in mice due to congenital cardiovascular defects. Loss of Rbpms causes premature onset of cardiomyocyte binucleation and cell cycle arrest during development. Human iPSC-derived cardiomyocytes with RBPMS gene deletion have a similar blockade to cytokinesis. Sequencing analysis revealed that RBPMS plays a role in RNA splicing and influences RNAs involved in cytoskeletal signaling pathways. We found that RBPMS mediates isoform switching of the heart-specific LIM domain protein Pdlim5 . Loss of Rbpms leads to abnormal accumulation of Pdlim5 -short isoforms, disrupting cardiomyocyte cytokinesis. Our findings connect premature cardiomyocyte binucleation to noncompaction cardiomyopathy and highlight the role of Rbpms in this process.

Inhibition of the ­ miR‐200 family results in cardiac developmental defects

Cardiac development is a multifaceted process involving a plethora of genes and pathways.Errors in cardiac development are classified under the umbrella of Congenital Cardiovascular Defects (CCDs), which occur in 6.9 of 1000 live births, making CCDs the most common birth defect.microRNAs (miRs) have been shown to contribute to proper cardiac development by regulating cardiomyocyte differentiation and mature cardiomyocyte function. Furthermore, ectopic expression of miRs have been found in patients with CCDs. In recent years the miR-200 family, has been proposed to play a critical role in cardiac development and CCDs. Though miRs have a proposed role in cardiac development, current methods of miR inhibition cannot be studied ­in vivo. Our lab has been able to overcome this obstacle by utilizing the Plasmid-based MicroRNA Inhibitor System (PMIS) where we are able to inhibit the miR-200 family in vivo. Analysis of hearts from PMIS miR-200 inhibitor mice, show a range of defects including ventricle wall development and abnormal cardiomyocyte maturation.PMIS inhibitor mice present with imperfections in trabecular and compact myocardium development.Moreover, ultrasound analysis of PMIS inhibitor mice displayed a slower heart rate and hemorrhaging in the pericardial cavity.Immunofluorescent analysis of cardiac troponin showed PMIS cardiomyocytes have expression of sarcomere bands at earlier stages in development.Additionally, these mice have defects in the both non-muscle layers of the heart, the epicardium and endocardium, which appear to have lack of EMT into the myocardium.Our model offers a unique and novel approach to studying the precise role of the ­miR-200 family in cardiac development and CCDs progression.

Scimitar syndrome in an elderly female without any cardiac anomaly: A case report

Scimitar syndrome or congenital pulmonary venolobar syndrome, is a rare congenital cardiovascular defect charactarized by anomalous venous return from the right lung (to the systemic venous drainage, rather than directly to the left atrium). This anomalous pulmonary venous return can be either partial (PAPVR) or total (TAPVR). The syndrome associated with PAPVR is more commonly known as Scimitar syndrome after the curvilinear pattern created on a chest radiograph by the pulmonary veins that drain to the inferior vena cava. Considering its rareness we are reporting scimitar syndrome in middle aged female patient with long standing dyspnea and recurrent chest infections without any cardiac anomaly.

Noninvasive imaging of congenital cardiovascular defects.

Advances in the treatment have drastically increased the survival rate of congenital heart disease (CHD) patients. Therefore, the prevalence of these patients is growing. Imaging plays a crucial role in the diagnosis and management of this population as a key component of patient care at all stages, especially in those patients who survived into adulthood. Over the last decades, noninvasive imaging techniques, such as cardiac magnetic resonance (CMR) and cardiac computed tomography (CCT), progressively increased their clinical relevance, reaching stronger levels of accuracy and indications in the clinical surveillance of CHD. The current review highlights the main technical aspects and clinical applications of CMR and CCT in the setting of congenital cardiovascular abnormalities, aiming to address a state-of-the-art guidance to every physician and cardiac imager not routinely involved in the field.

Partial Anomalous Left Pulmonary Artery: A Case Report and Literature Review

: Hereby, the case of an 8-month-old girl diagnosed with partial anomalous left pulmonary artery (PLPA) is presented. Echocardiography and computed tomography (CT) examination demonstrated that the anomalous artery originated from the right pulmonary artery supplying the left upper lobe. PLPA is sometimes associated with tracheobronchial anomaly and congenital cardiovascular defects. A relationship between PLPA and Kabuki syndrome has also been suggested. Echocardiography and CT angiography can be used as accurate tools for identifying an anomalous left pulmonary artery and adjacent abnormal anatomic structures.

Cardiovascular Complications in Patients with Turner's Syndrome.

Turner's or Turner syndrome (TS) is the most prevalent chromosomal abnormality in live female births. Patients with TS are predisposed to an increased risk of cardiovascular diseases (CVD), mainly due to the frequently observed congenital structural cardiovascular defects, such as valvular and aortic abnormalities (coarctation, dilatation, and dissection). The increased prevalence of cardiometabolic risk factors, such as arterial hypertension, insulin resistance, diabetes mellitus, dyslipidaemia, central obesity, and increased carotid intima-media thickness, also contribute to increased morbidity and mortality in TS patients. Menopausal hormone therapy (MHT) is the treatment of choice, combined with growth hormone (GH). Although MHT may, in general, ameliorate CVD risk factors, its effect on CVD mortality in TS has not yet been established. The exact effect of GH on these parameters has not been clarified. Specific considerations should be provided in TS cases during pregnancy, due to the higher risk of CVD complications, such as aortic dissection. Optimal cardiovascular monitoring, including physical examination, electrocardiogram, CVD risk factor assessment, and transthoracic echocardiography, is recommended. Moreover, the cardiac magnetic resonance from the age of 12 years is recommended due to the high risk of aortic aneurysm and other anatomical vascular complications.