Lifetime Management of Adolescents and Young Adults with Congenital Aortic Valve Disease.

In this invited expert review, we focus on evolving lifetime management strategies for adolescents and young adults with congenital aortic valve disease, acknowledging that these patients often require multiple interventions during their lifetime. Our goal is to preserve the native aortic valve when feasible. Leveraging advanced multimodality imaging, a detailed assessment of the aortic valve and root complex can be obtained, and a surgically approach tailored to an individual patient's anatomy and pathology can be used. In turn, aortic valve repair and reconstruction can be offered to a greater number of patients, either as a definitive strategy or as a component of a staged strategy to delay the need for aortic valve replacement until later in life when more options are available.

Surgical Repair of Common Arterial Trunk With Ventriculoarterial Septal Defect and Dual Orifice Truncal Valve.

We present a case of a rare example of a ventriculo-arterial septal defect found in a patient with a common arterial trunk, with balanced aortic and pulmonary components, but with separate valvar orifices within the common truncal valve. We managed the lesion using a two-patch approach. Performing a palliative procedure to relieve the elevated right ventricular pressure aided in the preservation of the pulmonary component of the common valve. We validated the success of the technique using postoperative computerized tomography and four-dimensional flow magnetic resonance imaging.

Bicuspid Aortic Valve Disease With Early Onset Complications: Characteristics And Aortic Outcomes.

Bicuspid aortic valve (BAV) is the most common congenital heart malformation in adults but can also cause childhood-onset complications. In multicenter study, we found that adults who experience significant complications of BAV disease before age 30 are distinguished from the majority of BAV cases that manifest after age 50 by a relatively severe clinical course, with higher rates of surgical interventions, more frequent second interventions, and a greater burden of congenital heart malformations. These observations highlight the need for prompt recognition, regular lifelong surveillance, and targeted interventions to address the significant health burdens of patients with early onset BAV complications.

Perioperative Assessment of the Hemodynamic Ventriculoarterial Junction of the Aortic Root by Three-Dimensional Echocardiography.

Improved strategies in aortic valve-preserving operations appreciate the dynamic, three-dimensional complexity of the aortic root and its valve. This depends not only on detailed four-dimensional imaging of the planar dimensions of the aortic root but also on quantitative assessment of the valvar leaflets and their competency. The zones of apposition and resulting hemodynamic ventriculoarterial junction formed in diastole determine valvar competency. Current understanding and assessment of this junction is limited, often relying on intraoperative direct surgical inspection. However, this direct inspection itself is limited by evaluation in a nonhemodynamic state with limited field of view. In this review, we discuss the anatomy of the aortic root, including its hemodynamic junction. We review current echocardiographic approaches toward interrogating the incompetent aortic valve for presurgical planning. Furthermore, we introduce and standardize a complementary approach to assessing this hemodynamic ventriculoarterial junction by three-dimensional echocardiography to further personalize presurgical planning for aortic valve surgery.

Multi-modality imaging evaluation and pre-surgical planning for aortic valve-sparing operations in patients with aortic root aneurysm.

Cardiac computed tomography (CT) and magnetic resonance (CMR) supplement echocardiography in the evaluation of those with aortic root and ascending aortic dilation, determining timing for intervention, guiding pre-surgical planning and post-operative surveillance. The dynamic, three-dimensional complexity of the aortic root and how it relates to the base of the left ventricle must be understood in any surgical approach addressing the aneurysmal aortic root. With improved imaging technology and the importance for proper patient counseling, it is no longer acceptable to enter the operating theater without a detailed blue print of what the problem is, and how best to address it. In addition, reliance on surgical expertise alone for intraoperative evaluation and decision making could be suboptimal due to the unloaded condition of the aortic root and the variance of experience of the surgeons to successfully repair the aortic valve. This is exemplified by the selective surgeons and centers who have the ability to tackle these aortic valve and root pathologies, compared to mitral valve repair techniques that have been codified and are generalizable. This review discusses a multimodality imaging approach in the patient with aortic root aneurysm, focusing on the precision added with pre-surgical CT assessment to guide aortic-valve sparing operations. This precision is afforded with a detailed understanding of the anatomy of the aortic root and underlying support, and its accurate evaluation by standard two- and three-dimensional imaging. Furthermore, we describe the evolving ability to predict the location of ventricular components of the atrioventricular conduction axis with further clinical imaging to personalize surgical strategies.

Expert Consensus Statement: Anatomy, Imaging, and Nomenclature of Congenital Aortic Root Malformations.

Over the past 2 decades, several categorizations have been proposed for the abnormalities of the aortic root. These schemes have mostly been devoid of input from specialists of congenital cardiac disease. The aim of this review is to provide a classification, from the perspective of these specialists, based on an understanding of normal and abnormal morphogenesis and anatomy, with emphasis placed on the features of clinical and surgical relevance. We contend that the description of the congenitally malformed aortic root is simplified when approached in a fashion that recognizes the normal root to be made up of 3 leaflets, supported by their own sinuses, with the sinuses themselves separated by the interleaflet triangles. The malformed root, usually found in the setting of 3 sinuses, can also be found with 2 sinuses, and very rarely with 4 sinuses. This permits description of trisinuate, bisinuate, and quadrisinuate variants, respectively. This feature then provides the basis for classification of the anatomical and functional number of leaflets present. By offering standardized terms and definitions, we submit that our classification will be suitable for those working in all cardiac specialties, whether pediatric or adult. It is of equal value in the settings of acquired or congenital cardiac disease. Our recommendations will serve to amend and/or add to the existing International Paediatric and Congenital Cardiac Code, along with the Eleventh iteration of the International Classification of Diseases provided by the World Health Organization.

Surgical strategies to address re-operative complex left ventricular outflow tract and thoracic aortic pathology: Cleveland Clinic children's experience.

BACKGROUND: Complex patients requiring operations on the left ventricular outflow tract, aortic valve, or thoracic aorta after previous repair of aortopathy constitute a challenging group, with limited information guiding decision-making. We aimed to use our institutional experience to highlight management challenges and describe surgical pearls to address them. METHODS: Forty-one complex patients with surgery on the left ventricular outflow tract, aortic valve, or aorta at Cleveland Clinic Children's between 2016 and 2021 following previous repair of aortic pathology were retrospectively reviewed. Patients with known connective tissue disease or single ventricle circulation were excluded. RESULTS: Median age at index procedure was 23 years (range 0.25-48) with median of 2 prior sternotomies. Previous aortic operations included subvalvular (n = 9), valvular (n = 6), supravalvular (n = 13), and multi-level surgeries (n = 13). Four deaths occurred in median follow-up of 2.5 years. Mean left ventricular outflow tract gradients improved significantly for patients with obstruction (34.9 ± 17.5 mmHg versus 12.6 ± 6.0 mmHg; p < 0.001). Technical pearls include the following: 1) liberal use of anterior aortoventriculoplasty with valve replacement; 2) primarily anterior aortoventriculoplasty following the subpulmonary conus in contrast to more vertical incision for post-arterial switch operation patients; 3) pre-operative imaging of mediastinum and peripheral vasculature for cannulation and sternal re-entry; and 4) proactive use of multi-site peripheral cannulation. CONCLUSIONS: Operation to address the left ventricular outflow tract, aortic valve, or aorta following prior congenital aortic repair can be accomplished with excellent outcomes despite high complexity. These procedures commonly include multiple components, including concomitant valve interventions. Cannulation strategies and anterior aortoventriculoplasty in specific patients require modifications.

Cardiac Tamponade Related to a Large Pericardial Mass in a Female with Juvenile Idiopathic Arthritis.

We report the case of a young female with juvenile idiopathic arthritis presenting with cardiac tamponade secondary to an unusual pericardial mass. Pericardial masses are typically incidental findings. In rare circumstances they can cause compressive physiology warranting urgent intervention. She required surgical excision which revealed a pericardial cyst encapsulating a chronic solidified hematoma. Though certain inflammatory disorders are associated with myopericarditis, to our knowledge this is the first reported case of a pericardial mass in a well-controlled young patient. We theorize her immunosuppressant therapy resulted in hemorrhage into a pre-existing pericardial cyst, suggesting the need for further follow-up in those on adalimumab therapy.

Does age matter? Cardiopulmonary profiles of adolescents versus adults with pectus excavatum presenting for surgical evaluation.

PURPOSE: We sought to analyze differences in presentation and cardiopulmonary function between those referred for surgical consultation as adolescents (11-17 years) versus adults (18 + years). METHODS: Presenting symptoms, past medical history, and results from cardiac MRI (CMR), pulmonary function testing (PFT), and cardiopulmonary exercise testing (CPET) were reviewed in 329 patients evaluated preoperatively between 2015 and 2018. Adjusted regression modeling was used to measure associations between pectus indices and clinical endpoints of cardiopulmonary function. RESULTS: Our sample included 276 adolescents and 53 adults. Adults presented more frequently with chest pain (57% vs. 38%, p = 0.01), shortness of breath (76% vs. 59%, p = 0.02), palpitations (21% vs. 11%, p = 0.04), and exercise intolerance (76% vs. 59%, p = 0.02). Their Haller indices (5.2 [4.2, 7.0] vs. 4.7 [4.0, 5.7], p = 0.05) and cardiac asymmetry (1.8 [0.5] vs. 1.6 [0.5], p = 0.02) were also higher. In continuous outcome analysis, adolescents had higher FEV1/FVC on PFT and higher work on CPET (p < 0.01). CONCLUSIONS: Adults with pectus excavatum were more symptomatic than adolescents with deeper, more asymmetric deformities, decreased FEV1/FVC and exercise capacity. These findings may support earlier versus later repair to prevent age-related decline. Further studies are warranted.

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

PURPOSE: In a large cohort of 373 pediatric patients with Marfan syndrome (MFS) with a severe cardiovascular phenotype, we explored the proportion of patients with MFS with a pathogenic FBN1 variant and analyzed whether the type/location of FBN1 variants was associated with specific clinical characteristics and response to treatment. Patients were recruited on the basis of the following criteria: aortic root z-score > 3, age 6 months to 25 years, no prior or planned surgery, and aortic root diameter < 5 cm. METHODS: Targeted resequencing and deletion/duplication testing of FBN1 and related genes were performed. RESULTS: We identified (likely) pathogenic FBN1 variants in 91% of patients. Ectopia lentis was more frequent in patients with dominant-negative (DN) variants (61%) than in those with haploinsufficient variants (27%). For DN FBN1 variants, the prevalence of ectopia lentis was highest in the N-terminal region (84%) and lowest in the C-terminal region (17%). The association with a more severe cardiovascular phenotype was not restricted to DN variants in the neonatal FBN1 region (exon 25-33) but was also seen in the variants in exons 26 to 49. No difference in the therapeutic response was detected between genotypes. CONCLUSION: Important novel genotype-phenotype associations involving both cardiovascular and extra-cardiovascular manifestations were identified, and existing ones were confirmed. These findings have implications for prognostic counseling of families with MFS.

The Severity of Pectus Excavatum Defect Is Associated With Impaired Cardiopulmonary Function.

BACKGROUND: Repair of pectus excavatum has cosmetic benefits, but the physiologic impact remains controversial. The aim of this study was to characterize the relationship between the degree of pectus excavatum and cardiopulmonary dysfunction seen on cardiac magnetic resonance (CMR) imaging, cardiopulmonary exercise testing (CPET), and pulmonary function testing (PFT). METHODS: A single-center analysis of CMR, CPET, and PFT was conducted. Regression models evaluated relationships between pectus indices and the clinical end points of cardiopulmonary function. RESULTS: Data from 345 CMRs, 261 CPETs, and 281 PFTs were analyzed. Patients were a mean age of 15.2 ± 4 years, and 81% were aged <18 years. The right ventricular ejection fraction (RVEF) was <0.50 in 16% of patients, left ventricular ejection fraction (LVEF) was <0.55 in 22%, RVEF Z-score was < -2 in 32%, and the LVEF Z-score was < -2 in 18%. CPET revealed 33% of patients had reduced aerobic fitness. PFT results were abnormal in 23.1% of patients. Adjusted analyses revealed the Haller index had significant (P < .05) inverse associations with RVEF and LVEF. CONCLUSIONS: The severity of pectus excavatum is associated with ventricular systolic dysfunction. Pectus excavatum impacts right and left ventricular systolic function and can also impact exercise tolerance. The Haller index and correction index may be the most useful predictors of impairment.

Nomenclature for Pediatric and Congenital Cardiac Care: Unification of Clinical and Administrative Nomenclature - The 2021 International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Revision of the International Classification of Diseases (ICD-11).

Substantial progress has been made in the standardization of nomenclature for paediatric and congenital cardiac care. In 1936, Maude Abbott published her Atlas of Congenital Cardiac Disease, which was the first formal attempt to classify congenital heart disease. The International Paediatric and Congenital Cardiac Code (IPCCC) is now utilized worldwide and has most recently become the paediatric and congenital cardiac component of the Eleventh Revision of the International Classification of Diseases (ICD-11). The most recent publication of the IPCCC was in 2017. This manuscript provides an updated 2021 version of the IPCCC.The International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD), in collaboration with the World Health Organization (WHO), developed the paediatric and congenital cardiac nomenclature that is now within the eleventh version of the International Classification of Diseases (ICD-11). This unification of IPCCC and ICD-11 is the IPCCC ICD-11 Nomenclature and is the first time that the clinical nomenclature for paediatric and congenital cardiac care and the administrative nomenclature for paediatric and congenital cardiac care are harmonized. The resultant congenital cardiac component of ICD-11 was increased from 29 congenital cardiac codes in ICD-9 and 73 congenital cardiac codes in ICD-10 to 318 codes submitted by ISNPCHD through 2018 for incorporation into ICD-11. After these 318 terms were incorporated into ICD-11 in 2018, the WHO ICD-11 team added an additional 49 terms, some of which are acceptable legacy terms from ICD-10, while others provide greater granularity than the ISNPCHD thought was originally acceptable. Thus, the total number of paediatric and congenital cardiac terms in ICD-11 is 367. In this manuscript, we describe and review the terminology, hierarchy, and definitions of the IPCCC ICD-11 Nomenclature. This article, therefore, presents a global system of nomenclature for paediatric and congenital cardiac care that unifies clinical and administrative nomenclature.The members of ISNPCHD realize that the nomenclature published in this manuscript will continue to evolve. The version of the IPCCC that was published in 2017 has evolved and changed, and it is now replaced by this 2021 version. In the future, ISNPCHD will again publish updated versions of IPCCC, as IPCCC continues to evolve.

Global leadership in paediatric and congenital cardiac care: "Humility in Leadership - an interview with Katarina Hanséus, MD, PhD, President of the Association for European Paediatric and Congenital Cardiology (AEPC)".

Dr. Katarina Hanséus is the focus of our fourth in a series of interviews in Cardiology in the Young entitled, "Global Leadership in Paediatric and Congenital Cardiac Care". Dr. Hanséus was born in Malmö, Sweden. She attended undergraduate school in her home town in Malmö, Sweden, graduating in 1974. Dr. Hanséus then went on to complete medical school at University of Lund in Lund, Sweden, graduating in 1980, where additionally she completed a Doctoral Dissertation in the evaluation of cardiac function and chamber size in children using Doppler and cross-sectional echocardiography. Under the Swedish Board of National Welfare, Dr. Hanséus completed her authorisation as a paediatrician in 1986, followed by her authorisation as a paediatric cardiologist in 1988, at University of Lund. She was appointed head of Paediatric Cardiology in 2000 at the Children's Heart Center, Skane University Hospital, Lund, Sweden. The programme at Lund serves as one of the two national referral centres for comprehensive paediatric and congenital cardiac care, including paediatric cardiac surgery, in Sweden. From 2006 to 2013, she served as the clinical and administrative head of the Department of Neonatology, Paediatric Surgery, Paediatric Intensive Care, Paediatric Cardiology, and Paediatric Cardiac Surgery, returning as the head of Paediatric Cardiology in 2013, for which she currently holds the position.Dr. Hanséus is a recognised leader in the field of Paediatric Cardiology and has been involved in leadership within the Swedish Pediatric Society, the Swedish Association for Pediatric Cardiology, and the Association for European Paediatric and Congenital Cardiology throughout her career. Within the Association for European Paediatric and Congenital Cardiology, she served as the Secretary General from 2011 to 2016, the President Elect in 2018, and is the current President serving from 2019 until 2022. This article presents our interview with Dr. Hanséus, an interview that covers her experience as a leader in the field of Paediatric Cardiology, including the history and goals of the Association for European Paediatric and Congenital Cardiology, and her role and vision as their current President.

Current Status of Training and Certification for Congenital Heart Surgery Around the World: Proceedings of the Meetings of the Global Council on Education for Congenital Heart Surgery of the World Society for Pediatric and Congenital Heart Surgery.

The optimal training of the highly specialized congenital heart surgeon is a long and complex process, which is a significant challenge in most parts of the world. The World Society for Pediatric and Congenital Heart Surgery (WSPCHS) has established the Global Council on Education for Congenital Heart Surgery as a nonprofit organization with the goal of assessing current training and certification and ultimately establishing standardized criteria for the training, evaluation, and certification of congenital heart surgeons around the world. The Global Council and the WSPCHS have reviewed the present status of training and certification for congenital cardiac surgery around the world. There is currently lack of consensus and standardized criteria for training in congenital heart surgery, with significant disparity between continents and countries. This represents significant obstacles to international job mobility of competent congenital heart surgeons and to the efforts to improve the quality of care for patients with Congenital Heart Disease worldwide. The purpose of this article is to summarize and document the present state of training and certification in congenital heart surgery around the world.

Echocardiographic myocardial strain analysis describes subclinical cardiac dysfunction after craniospinal irradiation in pediatric and young adult patients with central nervous system tumors.

BACKGROUND: Craniospinal irradiation (CSI) is part of the treatment of central nervous system (CNS) tumors and is associated with cardiovascular disease in adults. Global myocardial strain analysis including longitudinal peak systolic strain (GLS), circumferential peak systolic strain (GCS), and radial peak systolic strain (GRS) can reveal subclinical cardiac dysfunction. METHODS: Retrospective, single-center study in patients managed with CSI vs. age-matched controls. Clinical data and echocardiography, including myocardial strain analysis, were collected at early (< 12 months) and late (≥ 12 months) time points after completion of CSI. RESULTS: Echocardiograms were available at 20 early and 34 late time points. Patients at the late time point were older (21.7 ± 10.4 vs. 13.3 ± 9.6 years) and further out from CSI (13.1 ± 8.8 vs. 0.2 ± 0.3 years). Standard echocardiographic parameters were normal for both groups. For early, CSI vs. control: GLS was - 16.8 ± 3.6% vs. -21.3 ± 4.0% (p = 0.0002), GCS was - 22.5 ± 5.2% vs. -21.3 ± 3.4% (p = 0.28), and GRS was 21.8 ± 11.0% vs. 26.9 ± 7.7% (p = 0.07). For late, CSI vs. control: GLS was - 16.2 ± 5.4% vs. -21.6 ± 3.7% (p < 0.0001), GCS was - 20.9 ± 6.8% vs. -21.9 ± 3.5% (p = 0.42), and GRS was 22.5 ± 10.0% vs. 27.3 ± 8.3% (p = 0.03). Radiation type (proton vs. photon), and radiation dose (< 30 Gy vs. ≥ 30 Gy) did not impact any parameter, although numbers were small. CONCLUSIONS: Subclinical cardiac systolic dysfunction by GLS is present both early and late after CSI. These results argue for future studies to determine baseline cardiovascular status and the need for early initiation of longitudinal follow-up post CSI.

Normative Aortic Valvar Measurements in Adults Using Cardiac Computed Tomography　- A Potential Guide to Further Sophisticate Aortic Valve-Sparing Surgery.

BACKGROUND: A thorough understanding of the anatomy of the aortic valve is necessary for aortic valve-sparing surgery. Normal valvar dimensions and their relationships in the living heart, however, have yet to be fully investigated in a 3-dimensional fashion.Methods and Results:In total, 123 consecutive patients (66±12 years, Men 63%) who underwent coronary computed tomographic angiography were enrolled. Mid-diastolic morphology of the aortic roots, including height of the interleaflet triangles, geometric height, free margin length of each leaflet, effective height, and coaptation length were measured using multiplanar reconstruction images. Average height of the interleaflet triangle, geometric height, free margin length, effective height, and the coaptation length were 17.3±1.8, 14.7±1.3, 32.6±3.6, 8.6±1.4, and 3.2±0.8 mm, respectively. The right coronary aortic leaflet displayed the longest free margin length and shortest geometric height. Geometric height, free margin length, and effective height showed positive correlations with aortic root dimensions. Coaptation length, however, remained constant regardless of aortic root dimensions. CONCLUSIONS: Diversities, as well as characteristic relationships among each value involving the aortic root, were identified using living-heart datasets. The aortic leaflets demonstrated compensatory elongation along with aortic root dilatation to maintain constant coaptation length. These measurements will serve as the standard value for revealing the underlying mechanism of aortic regurgitation to plan optimal aortic valve-sparing surgery.

Cantu syndrome: A longitudinal review of vascular findings in three individuals.

Cantu syndrome is a rare autosomal dominant disorder caused by missense variants in ABCC9 and KCNJ8. It is characterized by hypertrichosis, neonatal macrosomia, coarse facial features, and skeletal anomalies. Reported cardiovascular anomalies include cardiomegaly, structural defects, collateral vessels, and rare report of arteriovenous malformation (AVM). Arterial dilation is reported in a few individuals including one with surgical intervention for a thoracic aortic aneurysm. The natural history of this aortopathy including the rate of progression or risk for dissection is unknown and longitudinal patient data is unavailable. We present data from vascular imaging in three individuals with genetically confirmed Cantu syndrome over 3 to 14 years of follow-up. All patients had generally stable aortic dilation, which did not reach the surgical threshold, including one individual followed closely through pregnancy. In adulthood, one individual had a maximum ascending aortic measurement of 4.2 cm. Two pediatric patients had aortic root or ascending z-scores of approximately +3. A large asymptomatic pelvic AVM was identified in one individual on head-pelvis MRI. While the data reported in these individuals is reassuring regarding the risk for progressive disease, further data from additional individuals with Cantu syndrome is needed to best inform screening recommendations, improve understanding of dissection risk, and guide management.