Clinical presentation and surgical outcomes in patients with Shone's complex: a systematic review.

OBJECTIVE: Shone's complex comprises of a combination of congenital cardiac anomalies causing obstructions in the left ventricle's inflow and outflow tracts. This systematic review aims to evaluate the clinical features and surgical outcomes of Shone's complex. METHODS: An electronic literature search of PubMed and Scopus was performed to identify relevant studies related to the presentation, management, and outcomes of Shone's complex. Two reviewers independently performed selection. Data on study characteristics, participant demographics, interventions, outcomes, and follow-up durations were extracted and analyzed. RESULTS: A total of 691 papers were identified, with 18 studies included in the final analysis. The majority of the studies (n = 12) focused on the pediatric age group. The most common clinical presentations were coarctation of the aorta (n = 17) and mitral stenosis (n = 12). Surgical interventions often involved staged approaches, prioritizing outflow before inflow obstructions. Mitral valve repair was preferred over replacement due to better long-term outcomes (n = 8). Biventricular repair was recommended due to improved postoperative outcomes, but often needed reoperations. Reoperations were common, primarily due to recurrent coarctation (n = 10), subaortic stenosis (n = 8), and mitral valve dysfunction (n = 7). Pulmonary hypertension (n = 10) and arrhythmias (n = 11) were significant complications. Most patients were in modified Ross/NYHA functional class 1 on follow-up. Mortality rates ranged from 4 to 28%, with better outcomes associated with early and strategic surgical interventions. CONCLUSION: Early diagnosis and biventricular repair were associated with better outcomes while transplantation was often an eventuality. Standardized diagnostic criteria, long-term follow-up, and consensus guidelines are needed to improve the management of this congenital heart disease.

Cardiovascular diseases as risk factors of post-COVID syndrome: a systematic review.

BACKGROUND: A growing proportion of people experience incomplete recovery months after contracting coronavirus disease 2019 (COVID-19). These COVID-19 survivors develop a condition known as post-COVID syndrome (PCS), where COVID-19 symptoms persist for > 12 weeks after acute infection. Limited studies have investigated PCS risk factors that notably include pre-existing cardiovascular diseases (CVD), which should be examined considering the most recent PCS data. This review aims to identify CVD as a risk factor for PCS development in COVID-19 survivors. METHODS: Following the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) checklist, systematic literature searches were performed in the PubMed, Scopus, and Web of Science databases from the earliest date available to June 2023. Data from observational studies in English that described the association between CVD and PCS in adults (≥ 18 years old) were included. A minimum of two authors independently performed the screening, study selection, data extraction, data synthesis, and quality assessment (Newcastle-Ottawa Scale). The protocol of this review was registered under PROSPERO (ID: CRD42023440834). RESULTS: In total, 594 studies were screened after duplicates and non-original articles had been removed. Of the 11 included studies, CVD including hypertension (six studies), heart failure (three studies), and others (two studies) were significantly associated with PCS development with different factors considered. The included studies were of moderate to high methodological quality. CONCLUSION: Our review highlighted that COVID-19 survivors with pre-existing CVD have a significantly greater risk of developing PCS symptomology than survivors without pre-existing CVD. As heart failure, hypertension and other CVD are associated with a higher risk of developing PCS, comprehensive screening and thorough examinations are essential to minimise the impact of PCS and improve patients' disease progression.

[Factors associated with left ventricular diastolic dysfunction in adults from a region of the Andes in Peru]. / Factores asociados con la disfunción diastólica del ventrículo izquierdo en adultos de una región de los Andes en Perú.

Objective: To determine the factors associated with left ventricular diastolic dysfunction (LVDD) in adults residing in a region of the Andes in Peru. Method: A case-control study was conducted on adults living at an altitude of more than 3000 meters in Peru. Cases consisted of patients diagnosed with LVDD through echocardiography, whereas controls were adults without LVDD, as confirmed by echocardiography. Results: A total of 50 cases and 100 controls were included in the study. Among them, 38.7% had high blood pressure, and 41.3% were overweight. Upon adjusted analysis, age 60 or older (aOR: 4.06; 95%CI: 1.29-12.8), female sex (aOR: 2.24; 95%CI: 1.01-4.96) and left ventricular hypertrophy (aOR: 3.17; 95%CI: 1.41-7.17) were identified as statistically significant factors associated with LVDD. Conclusions: The risk of LVDD is associated with older adults, female gender, and left ventricular hypertrophy among individuals residing above 3000 meters altitude in a region of the Andes, in Peru.

Objetivo: Determinar los factores asociados con la disfunción diastólica del ventrículo izquierdo (DDVI) en adultos de una región de los Andes, en Perú. Método: Estudio de casos y controles en adultos residentes a más de 3000 metros de altitud en Perú. Los casos fueron pacientes adultos diagnosticados con DDVI por ecocardiografía, y los controles fueron adultos sin DDVI por ecocardiografía. Resultados: Se incluyeron 50 casos y 100 controles. El 38.7% tuvieron hipertensión arterial y el 41.3% sobrepeso. En el análisis ajustado, la edad de 60 o más años (ORa: 4.06; IC95%: 1.29-12.8), el sexo femenino (ORa: 2.24; IC95%: 1.01-4.96) y la hipertrofia ventricular izquierda (ORa: 3.17; IC95%: 1.41-7.17) fueron factores estadísticamente significativos. Conclusiones: El riesgo de DDVI estuvo asociado a los adultos mayores, las mujeres y los pacientes con hipertrofia ventricular izquierda que viven por encima de los 3000 metros de altitud en una región de los Andes, en Perú.

Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation.

Congenital heart defects (CHDs) are most prevalent cardiac defects that occur at birth, leading to significant neonatal mortality and morbidity, especially in the developing nations. Among the CHDs, conotruncal heart defects (CTDs) are particularly noteworthy, comprising a significant portion of congenital cardiac anomalies. While advances in imaging and surgical techniques have improved the diagnosis, prognosis, and management of CTDs, their molecular genetics and genomic substrates remain incompletely understood. This expert review covers the recent advances from January 2016 onward and examines the complexities surrounding the genetic etiologies, prevalence, embryology, diagnosis, and clinical management of CTDs. We also emphasize the known copy number variants and single nucleotide variants associated with CTDs, along with the current planetary health research efforts aimed at CTDs in large cohort studies. In all, this comprehensive narrative review of molecular genetics and genomics research and innovation on CTDs draws from and highlights selected works from around the world and offers new ideas for advances in CTD diagnosis, precision medicine interventions, and accurate assessment of prognosis and recurrence risks.

Preconception underweight and the risk of offspring congenital heart diseases in young pregnant women: Evidence from the China Birth Cohort Study.

OBJECTIVE: Maternal obesity is a highly suggestive risk factor of offspring congenital heart diseases (CHD). However, the risk of offspring CHD associated with maternal underweight has rarely been mentioned. Therefore, this study aimed to explore the effect of preconception underweight on offspring CHD. METHODS: From November 2017 to August 2021, 132 386 pregnant women were enrolled in a birth cohort study in China in early pregnancy, and completed follow-up until delivery (or miscarriage/termination). Offspring CHD was diagnosed by prenatal ultrasound examination in both live births and stillbirths. Log-binomial regression and restricted cubic spline were used to estimate the risk of offspring CHD associated with preconception body mass index (BMI). A generalized additive model was used to explore the modification effect of maternal age on the association between preconception BMI and offspring CHD. RESULTS: A total of 129 096 pregnant women were included in the analysis. The incidence of CHD in the underweight, normal weight, overweight, and obesity groups were 117/17 313 (0.68%), 556/85 695 (0.65%), 128/19 936 (0.64%), 47/6152 (0.76%), respectively. Both underweight and obesity before pregnancy marginally increased the risk of offspring CHD. The association between preconception BMI and offspring CHD varied by maternal age, with low preconception BMI associated with a significantly higher risk of offspring CHD in women <24 years (RR 2.32, 95% CI: 1.07-5.01 for 17 vs 21 kg/m2). CONCLUSION: Preconception underweight was associated with an increased risk of offspring CHD in young pregnant women. Therefore, weight gain is important to prevent offspring CHD, especially for young women with low preconception BMI.

Innovative approaches for coronary heart disease management: integrating biomedical sensors, deep learning, and stellate ganglion modulation.

Coronary heart disease (CHD) is a significant global health concern, necessitating continuous advancements in treatment modalities to improve patient outcomes. Traditional Chinese medicine (TCM) offers alternative therapeutic approaches, but integration with modern biomedical technologies remains relatively unexplored. This study aimed to assess the efficacy of a combined treatment approach for CHD, integrating traditional Chinese medicinal interventions with modern biomedical sensors and stellate ganglion modulation. The objective was to evaluate the impact of this combined treatment on symptom relief, clinical outcomes, hemorheological indicators, and inflammatory biomarkers. A randomized controlled trial was conducted on 117 CHD patients with phlegm-turbidity congestion and excessiveness type. Patients were divided into a combined treatment group (CTG) and a traditional Chinese medicinal group (CMG). The CTG group received a combination of herbal decoctions, thread-embedding therapy, and stellate ganglion modulation, while the CMG group only received traditional herbal decoctions. The CTG demonstrated superior outcomes compared to the CMG across multiple parameters. Significant reductions in TCM symptom scores, improved clinical effects, reduced angina manifestation, favorable changes in hemorheological indicators, and decreased serum inflammatory biomarkers were observed in the CTG post-intervention. The combination of traditional Chinese medicinal interventions with modern biomedical sensors and stellate ganglion modulation has shown promising results in improving symptoms, clinical outcomes, and inflammatory markers in CHD patients. This holistic approach enhances treatment efficacy and patient outcomes. Further research and advancements in sensor technology are needed to optimize this approach.

Development and validation of AI-derived segmentation of four-chamber cine cardiac magnetic resonance.

BACKGROUND: Cardiac magnetic resonance (CMR) in the four-chamber plane offers comprehensive insight into the volumetrics of the heart. We aimed to develop an artificial intelligence (AI) model of time-resolved segmentation using the four-chamber cine. METHODS: A fully automated deep learning algorithm was trained using retrospective multicentre and multivendor data of 814 subjects. Validation, reproducibility, and mortality prediction were evaluated on an independent cohort of 101 subjects. RESULTS: The mean age of the validation cohort was 54 years, and 66 (65%) were males. Left and right heart parameters demonstrated strong correlations between automated and manual analysis, with a ρ of 0.91-0.98 and 0.89-0.98, respectively, with minimal bias. All AI four-chamber volumetrics in repeatability analysis demonstrated high correlation (ρ = 0.99-1.00) and no bias. Automated four-chamber analysis underestimated both left ventricular (LV) and right ventricular (RV) volumes compared to ground-truth short-axis cine analysis. Two correction factors for LV and RV four-chamber analysis were proposed based on systematic bias. After applying the correction factors, a strong correlation and minimal bias for LV volumetrics were observed. During a mean follow-up period of 6.75 years, 16 patients died. On stepwise multivariable analysis, left atrial ejection fraction demonstrated an independent association with death in both manual (hazard ratio (HR) = 0.96, p = 0.003) and AI analyses (HR = 0.96, p < 0.001). CONCLUSION: Fully automated four-chamber CMR is feasible, reproducible, and has the same real-world prognostic value as manual analysis. LV volumes by four-chamber segmentation were comparable to short-axis volumetric assessment. TRIALS REGISTRATION: ClinicalTrials.gov: NCT05114785. RELEVANCE STATEMENT: Integrating fully automated AI in CMR promises to revolutionise clinical cardiac assessment, offering efficient, accurate, and prognostically valuable insights for improved patient care and outcomes. KEY POINTS: • Four-chamber cine sequences remain one of the most informative acquisitions in CMR examination. • This deep learning-based, time-resolved, fully automated four-chamber volumetric, functional, and deformation analysis solution. • LV and RV were underestimated by four-chamber analysis compared to ground truth short-axis segmentation. • Correction bias for both LV and RV volumes by four-chamber segmentation, minimises the systematic bias.

KidsTUMove-A Holistic Program for Children with Chronic Diseases, Increasing Physical Activity and Mental Health.

The prevalence of chronic diseases in children and adolescents has risen alarmingly worldwide. Diseases such as asthma, diabetes, obesity, mental disorders, and congenital heart defects are increasingly affecting the lives of children and pose significant challenges for the healthcare system. Physical activity plays a crucial role in preventing and treating these diseases. Numerous studies have shown that regular exercise improves physical performance, increases well-being, and leads to better health in the long term. Specially tailored sports programs that meet the individual needs and abilities of the children and adolescents affected are particularly important. The KidsTUMove project addresses this by developing tailored exercise programs for children with chronic diseases' specific needs, medical conditions, and physical abilities. Therefore, it closes the gap in care provision and can thus sustainably improve the health prospects of these children and adolescents. KidsTUMove is positioned to make a significant impact on the lives of affected children across Europe. Promotion of such programs should therefore be an integral part of future health strategies.

Association of increased participation in social activity in later life with risk of all-cause mortality and heart diseases in older people: results from the Chinese Longitudinal Healthy Longevity Survey (CLHLS).

Background: Previous studies have shown social activity is associated with reduced risk of health outcomes. However, among older people (≥65 years) who were socially inactive at baseline, limited study explored whether increased participation in social activity in later life was associated with reduced risk of health outcomes; therefore, using the data from the Chinese Longitudinal Healthy Longevity Survey, the study was performed. Methods: The study outcomes were 10-year all-cause mortality (sample number = 9,984) and 10-year heart diseases (sample number = 7,496). The exposure was the change of social activity frequency. Cox regression analysis was used for data analysis. Results: During the follow-up, there were 6,407 all-cause mortalities and 1,035 heart diseases, respectively. Kaplan-Meier analysis demonstrated that cumulative incidences of all-cause mortality were significantly lower in participants with changes into more frequent social activity (log-rank p < 0.001), while no significant difference was observed for heart diseases (log-rank p = 0.330). Compared with the subgroup who never participated in social activity at baseline, adjusted HRs of all-cause mortality were 0.79 (95% CI: 0.70-0.90, p < 0.001), 0.78 (95% CI: 0.63-0.96, p = 0.019), 0.74 (0.59-0.92, p = 0.006), and 0.70 (95% CI: 0.56-0.88, p = 0.002) for the subgroup of switching to sometimes, the subgroup of switching to once a month, the subgroup of switching to once a week, and the subgroup of switching to everyday, respectively. The corresponding HRs of heart diseases were 0.83 (95% CI: 0.65-1.08, p = 0.170), 0.82 (95% CI: 0.51-1.31, p = 0.412), 0.91 (0.58-1.42, p = 0.675) and 0.75 (95% CI: 0.47-1.20, p = 0.227), respectively. Stratified and sensitivity analyses revealed similar results. Conclusion: Among older people who never participated in social activity, increased participation in social activity in later life was associated with reduced risk of all-cause mortality, but was not associated with reduced risk of heart diseases.

Valve-in-Valve Transcatheter Mitral Valve Replacement in a Very High-Risk Octagenerian Patient: A Case Report.

Degeneration of the surgical bioprosthetic valves remains one of the most common complications of surgical valve replacement. Redo surgery is the gold standard, but unfortunately, most of these patients are deemed inoperable because of the high perioperative mortality. Transcatheter implantation of a new valve inside the degenerated bioprosthesis (valve-in-valve (ViV)) has emerged as an alternative solution. A 79-year-old patient with a medical history of surgical replacement of the mitral valve with a bioprosthetic valve, coronary artery bypass graft surgery (CABG) with implantation of the left internal mammary artery (LIMA) to the left anterior descending artery (LAD), paroxysmal atrial fibrillation, and chronic kidney disease was referred to our hospital for ViV transcatheter mitral valve replacement (TMVR). He had recent hospitalizations with pulmonary edema caused by severe stenosis of the bioprosthetic valve and his perioperative mortality for a redo surgery was very high (EuroSCORE II: 13.72%). The ViV TMVR was performed with a transseptal approach and after the implantation of the new valve, the mean pressure gradient was dropped from 19.39 to 2.33 mmHg. The procedure was technically successful and the patient was discharged asymptomatic.

Childhood Adiposity and Risk of Major Clinical Heart Diseases in Adulthood: A Mendelian Randomization Study.

BACKGROUND: The causal relationship between childhood adiposity and adult risk of heart diseases has not been clearly demonstrated. This study aims to ascertain whether genetically predicted childhood body mass index (BMI) and childhood obesity are causally associated with adult coronary heart disease, myocardial infarction, heart failure, atrial fibrillation, hypertrophic cardiomyopathy, and pulmonary heart disease. METHODS AND RESULTS: To investigate the causative relationships and underlying mechanisms between childhood adiposity and adult heart diseases, 3 main methods of Mendelian randomization were used: 2-sample Mendelian randomization, multivariable Mendelian randomization with controlling for several cardiometabolic risk variables, and mediation analysis. Every 1-SD rise in genetically predicted childhood body mass index was associated with 24% (odds ratio [OR], 1.24 [95% CI, 1.12-1.37]), 28% (OR, 1.28 [95% CI, 1.14-1.42]), 28% (OR, 1.28 [95% CI, 1.14-1.42]), and 27% (OR, 1.27 [95% CI, 1.04-1.49]) higher risk of coronary heart disease, myocardial infarction, heart failure, and atrial fibrillation, respectively. Every 1-unit increase in log-odds in childhood obesity was associated with 11% (OR, 1.11 [95% CI, 1.06-1.16]), 14% (OR, 1.14 [95% CI, 1.04-1.23]), 10% (OR, 1.10 [95% CI, 1.03-1.18]), and 20% (OR, 1.20 [95% CI, 1.08-1.32]) higher risk of coronary heart disease, myocardial infarction, heart failure, and atrial fibrillation, respectively. The link between childhood adiposity and adult heart diseases was found to be mediated by high-density lipoprotein cholesterol, triglyceride, hypertension, and type 2 diabetes. CONCLUSIONS: Our findings support the causal relationships between childhood adiposity and risk of adult coronary heart disease, myocardial infarction, heart failure, and atrial fibrillation. Blood lipids, hypertension, and type 2 diabetes are factors that mediate the aforementioned associations.

Severe Aortic Stenosis Associated with Other Valve Diseases: Open Surgery or Percutaneous Treatment?

Treatment decisions in the context of severe aortic stenosis (AS) associated with other valvular heart diseases (VHDs) have become a major challenge in recent years. Transcatheter aortic valve replacement (TAVR) in AS has increased significantly in younger patients with lower surgical risk, which has complicated the choice of the best treatment in cases of other associated valvulopathies. The most frequently associated lesions in this clinical scenario are mitral regurgitation (MR), mitral stenosis, and tricuspid regurgitation (TR). Furthermore, it should be noted that different percutaneous techniques are now available to accommodate any associated valvulopathies, which has considerably broadened the range of therapeutic options. The management of AS treated in isolation, especially by TAVR, has also shown that many cases of significant MR or TR are substantially reduced without any intervention. However, although some parameters have been described as potential risk factors in predicting the poor outcome of untreated VHDs, which cases will progress in a clinically more aggressive way remains uncertain. This review aimed to evaluate the most recent publications to provide the pathophysiology and prognosis of severe AS associated with other significant VHDs and to evaluate the best invasive therapeutic approach depending on the associated valvular disease.

Down syndrome and postoperative hemodynamics in patients undergoing surgery for congenital cardiac communications.

Although Down syndrome (DS) is considered a risk factor for hemodynamic instabilities (mainly pulmonary hypertension-PH) following surgery for congenital cardiac communications, many DS patients do surprising well postoperatively. We prospectively analyzed perioperative factors for a possible correlation with post-cardiopulmonary bypass (CPB) inflammatory reaction and postoperative PH in pediatric subjects. Sixty patients were enrolled (age 3 to 35 months), 39 of them with DS. Clinical and echocardiographic parameters (anatomical and hemodynamic) were computed preoperatively. Pulmonary and systemic mean arterial pressures (PAP and SAP) were assessed invasively intra and postoperatively. Immediate postoperative PAP/SAP ratio (PAP/SAPIPO) and the behavior of pressure curves were selected as primary outcome. Serum levels of 36 inflammatory proteins were measured by chemiluminescence preoperatively and 4 h post CPB. Of all factors analyzed, peripheral oxygen saturation (O2Sat, bedside assessment) was the only preoperative predictor of PAP/SAPIPO at multivariate analysis (p = 0.007). Respective values in non-DS, DS/O2Sat ≥ 95% and DS/O2Sat < 95% subgroups were 0.34 (0.017), 0.40 (0.027) and 0.45 (0.026), mean (SE), p = 0.004. The difference between non-DS and DS groups regarding postoperative PAP curves (upward shift in DS patients, p = 0.015) became nonsignificant (p = 0.114) after adjustment for preoperative O2Sat. Post-CPB levels of at least 5 cytokines were higher in patients with O2Sat < 95% versus those at or above this level, even within the DS group (p < 0.05). Thus, a baseline O2Sat < 95% representing pathophysiological phenomena in the airways and the distal lung, rather than DS in a broad sense, seems to be associated with post-CPB inflammation and postoperative PH in these patients.

Cardiac disease discrimination from 3D-convolutional kinematic patterns on cine-MRI sequences. / Discriminación de enfermedades cardiacas utilizando patrones cinemáticos codificados con convoluciones 3D en secuencias de cine-RM

INTRODUCTION: Cine-MRI (cine-magnetic resonance imaging) sequences are a key diagnostic tool to visualize anatomical information, allowing experts to localize and determine suspicious pathologies. Nonetheless, such analysis remains subjective and prone to diagnosis errors. OBJECTIVE: To develop a binary and multi-class classification considering various cardiac conditions using a spatiotemporal model that highlights kinematic movements to characterize each disease. MATERIALS AND METHODS: This research focuses on a 3D convolutional representation to characterize cardiac kinematic patterns during the cardiac cycle, which may be associated with pathologies. The kinematic maps are obtained from the apparent velocity maps computed from a dense optical flow strategy. Then, a 3D convolutional scheme learns to differentiate pathologies from kinematic maps. RESULTS: The proposed strategy was validated with respect to the capability to discriminate among myocardial infarction, dilated cardiomyopathy, hypertrophic cardiomyopathy, abnormal right ventricle, and normal cardiac sequences. The proposed method achieves an average accuracy of 78.00% and a F1 score of 75.55%. Likewise, the approach achieved 92.31% accuracy for binary classification between pathologies and control cases. CONCLUSION: The proposed method can support the identification of kinematically abnormal patterns associated with a pathological condition. The resultant descriptor, learned from the 3D convolutional net, preserves detailed spatiotemporal correlations and could emerge as possible digital biomarkers of cardiac diseases.

Introducción. Las secuencias del cine-resonancia magnética (cine-MRI, cine magnetic resonance imaging) son una herramienta diagnóstica clave para visualizar la información anatómica que les permite a los expertos localizar y determinar aquellas anomalías que resulten sospechosas. No obstante, este análisis sigue siendo subjetivo y propenso a errores de diagnóstico. Objetivo. Desarrollar una clasificación binaria y multiclase, considerando diferentes condiciones cardiacas, mediante un modelo espaciotemporal que permita resaltar los movimientos cinéticos para caracterizar cada enfermedad. Materiales y métodos. Este estudio se centra en el uso de una representación de convolución 3D para caracterizar los patrones cinéticos durante el ciclo cardiaco que puedan estar asociados con enfermedades. Para ello, se obtienen mapas cinéticos a partir de mapas de velocidad aparente, calculados mediante una estrategia de flujo óptico denso. A continuación, un esquema de convolución 3D "aprende" a diferenciar patologías a partir de mapas cinemáticos. Resultados. La estrategia propuesta se validó según la capacidad de discriminar entre infarto de miocardio, miocardiopatía dilatada, miocardiopatía hipertrófica, ventrículo derecho anormal y un examen normal. El método propuesto alcanza una precisión media del 78,0 % y una puntuación F1 score del 75,55 %. Asimismo, el enfoque alcanzó el 92,31 % de precisión para la clasificación binaria entre enfermedades y casos de control. Conclusiones. El método propuesto es capaz de apoyar la identificación de patrones cinéticos anormales asociados con una condición patológica. El descriptor resultante, aprendido de la red de convolución 3D, conserva correlaciones espaciotemporales detalladas y podría surgir como posible biomarcador digital de enfermedades cardiacas.

Right-Sided Aortic Arch: A Computed Tomography Angiography Investigation, A Systematic Review with Meta-Analysis.

Background/Objectives: The right-sided aortic arch (RAA) is an uncommon variation of the aortic arch (AA), characterized by the aorta crossing over the right main bronchus. In the RAA, the descending aorta can be found on either the right or left side of the spine. The current study comprises a comprehensive retrospective computed tomography angiography (CTA) investigation into the prevalence of the RAA within the Greek population. Additionally, we will conduct a systematic review and meta-analysis to elucidate both common and rare morphological variants of the RAA. This research is significant as it sheds light on the prevalence and characteristics of the RAA in a specific population, providing valuable insights for clinical practice. Methods: Two hundred CTAs were meticulously investigated for the presence of a RAA. In addition, the PubMed, Google Scholar, and Scopus online databases were thoroughly searched for studies referring to the AA morphology. The R programming language and RStudio were used for the pooled prevalence meta-analysis, while several subgroup analyses were conducted. Results: Original study: A unique case of 200 CTAs (0.5%) was identified with an uncommon morphology. The following branches emanated from the RAA under the sequence: the right subclavian artery (RSA), the right common carotid artery (RCCA), the left common carotid artery (LCCA), and the left vertebral artery (LVA) in common origin with the aberrant left subclavian artery (ALSA). The ALSA originated from a diverticulum (of Kommerell) and followed a retroesophageal course. Systematic Review and Meta-Analysis: Sixty-two studies (72,187 total cases) met the inclusion criteria. The pooled prevalence of the RAA with a mirror-image morphology was estimated at 0.07%, and the RAA with an ALSA was estimated at <0.01%. Conclusions: AA anomalies, specifically the RAA, raise clinical interest due to their coexistence with developmental heart anomalies and possible interventional complications. Congenital heart anomalies, such as the Tetralogy of Fallot and patent foramen ovale, coexisted with RAA mirror-image morphology.

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

In the last decade, an incredible improvement has been made in elucidating the genetic bases of cardiomyopathies. Here we report the impact of either the European Society of Cardiology (ESC) guidelines or the use of whole exome sequencing (WES) in terms of a number of variants of uncertain significance (VUS) and missed diagnoses in a series of 260 patients affected by inherited cardiac disorders. Samples were analyzed using a targeted gene panel of 128 cardiac-related genes and/or WES in a subset of patients, with a three-tier approach. Analyzing (i) only a subset of genes related to the clinical presentation, strictly following the ESC guidelines, 20.77% positive test were assessed. The incremental diagnostic rate for (ii) the whole gene panel, and (iii) the WES was 4.71% and 11.67%, respectively. The diverse analytical approaches increased the number of VUSs and incidental findings. Indeed, the use of WES highlights that there is a small percentage of syndromic conditions that standard analysis would not have detected. Moreover, the use of targeted sequencing coupled with "narrow" analytical approach prevents the detection of variants in actionable genes that could allow for preventive treatment. Our data suggest that genetic testing might aid clinicians in the diagnosis of inheritable cardiac disorders.