BACKGROUND:Timely reperfusion is critical in ST-elevation myocardial infarction (STEMI), especially when patients initially present to hospitals without percutaneous coronary intervention (PCI) capability. Door-to-balloon (D2B) time and door-in-door-out (DIDO) time are very vital for the clinical outcome of the STEMI patients. The STEMI Pathway, implemented under the Saudi Model of Care (SMoC), is a regional initiative to streamline interfacility communication and transfers between 16 hospitals (including one PCI-capable center) in the Qassim region of Saudi Arabia. Operated by Prince Sultan Cardiac Center Qassim (PSCCQ), the pathway is coordinated and supported by the Qassim Health Cluster as part of its ongoing efforts to enhance acute cardiac care services. AIM:This study aims to assess the DIDO and D2B time for STEMI patients reported to PSCCQ in 2023 and 2024. METHODS:A retrospective study was conducted in March 2025 using data from STEMI cases transferred from non-PCI hospitals in Qassim province to the sole PCI center (PSCCQ) during 2023 and 2024. Important information recorded was arrival (door-in) at the receiving hospital, departure from the referring hospital (door-out), and balloon inflation time at the receiving hospital. From these, DIDO time (time of transfer out from a non-PCI facility to time of arrival at the referral hospital) and overall D2B time (from referral hospital arrival to PCI balloon inflation) were calculated. RESULTS:STEMI interfacility referrals increased from 312 in 2023 to 392 in 2024, indicating expanded utilization of the pathway. The DIDO time improved markedly from a median of 48 minutes in 2023 to 35 minutes in 2024. Likewise, median D2B decreased from 118 minutes in 2023 to 99 minutes in 2024. These improvements brought the median DIDO time closer to the recommended benchmark (≤30 minutes), while the median D2B time, which was already within the recommended ≤120 minutes in both 2023 and 2024, showed further improvement in 2024. CONCLUSION:Implementation of the SMoC STEMI pathway was associated with significantly enhanced interfacility communication and expedited transfers. Specifically, DIDO improved significantly in 2024 and approached the international benchmark of ≤30 minutes. Median D2B times, already within the recommended ≤120 minutes in 2023, showed further improvement in 2024, directly corresponding to the improved DIDO times. These findings underscore the value of coordinated regional STEMI networks in optimizing time-sensitive cardiac care.

Background Vascular rings encircle the trachea and esophagus, potentially compressing them and leading to respiratory and gastrointestinal symptoms in children. Objective This study aimed to describe the clinical and anatomical features as well as the surgical outcomes of children with vascular rings. Material and methods All children referred for cardiac evaluation were screened for vascular rings using echocardiography. Between January 2016 and January 2023, 29 patients diagnosed with vascular rings at Prince Sultan Cardiac Center, Qassim, Saudi Arabia, were enrolled in the study. This included vascular ring patients under 18 years of age with normal or abnormal intracardiac anatomy and with or without syndromic features. Patients diagnosed with a left aortic arch with an aberrant right subclavian artery were excluded. Patient records have been reviewed for demographic, clinical, echocardiographic, and surgical outcomes. Results Twenty-eight patients were diagnosed with vascular ring. The mean age at diagnosis was 3.8 years (± 4.4), ranging from 0 to 15 years. Males were 12 (42.8%), and females were 16 (57.1%). Eleven (39.2%) had associated intracardiac lesions. The right aortic arch with aberrant left subclavian artery and left ligamentum was the most frequently found vascular ring. The double aortic arch was the second most common. Twelve patients (42.8%) were diagnosed while asymptomatic and 16 (57.1%) experiencing respiratory and gastrointestinal symptoms. Twenty-one patients (75%) had surgical management of the vascular ring. Vascular ring division was performed concurrently with intracardiac repair in 5 patients (23.8%). The mean follow-up for the patients was 2.23(± 2.49) years. Complete improvement was noted in 10 (66.6%) patients. Two mortalities occurred due to non-VR-related causes. Conclusion Careful echocardiographic assessment of the aortic arch for children referred for cardiac evaluation using echocardiography enables early detection of vascular rings and facilitates planned follow-up and intervention. Early surgical intervention is recommended for symptomatic patients with relatively low operative risks. Some patients may still experience postoperative respiratory or digestive issues despite improvement in symptoms after ring division. Clinical trial not applicable

Atrial septal defects are common congenital heart anomalies and may coexist with rare systemic venous abnormalities. We describe a one-year-old female with a large secundum atrial septal defect and an unusual retrocardiac innominate vein. Transthoracic echocardiography suggested a persistent left superior vena cava, but the innominate vein was absent from its usual location and the coronary sinus was not dilated. Cardiac CT angiography demonstrated a retrocardiac innominate vein draining into the azygos system and subsequently to the right atrium. Surgical atrial septal defect closure was successful. Recognition of this anomaly is essential for accurate diagnosis and procedural planning.

We report a case of a 4-year-old female who presented with an acute stroke and a renal infarct. Further diagnostic workup with a transthoracic echocardiogram revealed a cardiac mass, and a subsequent cardiac magnetic resonance imaging (MRI) confirmed the presence of a cardiac tumor. The patient underwent surgical resection of the cardiac mass, and histopathological analysis confirmed the diagnosis of a cardiac papillary fibroelastoma (CPFE). This case highlights the importance of considering CPFE in the differential diagnosis for pediatric patients presenting with embolic events and stroke concurrent with a cardiac mass, despite its rarity in this age group.

Levoatriocardinal vein has rarely been described with cor triatriatum. We report a case of a newborn with respiratory distress who was found to have cor triatriatum sinister with a decompressing levoatriocardinal vein on transthoracic echocardiography. The pulmonary venous confluence received all pulmonary veins and drained to the proximal left atrial chamber through significant communication. Moreover, the cor triatriatum membrane separated the left atrial body into proximal and distal left atrial chambers with a restrictive opening in the membrane, causing severe flow limitation to the cardiac output, severe pulmonary arterial hypertension, and significant right ventricular dilatation. In addition, a sizeable levoatriocardinal vein decompressed the pulmonary venous confluence drained superiorly to the left innominate vein. She had a successful surgical repair by resectioning the cor triatriatum membrane and ligating the levoatriocardinal vein. The patient had improved pulmonary arterial pressures and right ventricular dimensions at the one-month follow-up. The case highlights the rare association of the levoatriocardinal vein and cor triatriatum, and its presence signifies severe obstruction at the level of cor triatriatum.

BACKGROUND:Aligned with the Health Sector Transformation Strategy of Saudi Vision 2030, the study analyzed the attitudes and behaviors of cardiologists toward change and identified factors that could either facilitate or hinder the success of leadership interventions. At our cardiac center, the cath lab department is at the forefront of operations, accounting for 80% of the procedures. Our team members may not be fully equipped with the necessary attitudes and behaviors to drive successful improvement projects. Therefore, our top priority is ensuring they remain productive and engaged throughout the process. This is especially crucial because 60% of our budget is allocated to the cath lab department. OBJECTIVES:The study aimed to assess the effectiveness of a leadership intervention on cardiologists' performance in terms of safety, speed, and cost. The research analyzed the behavior and attitude of cardiologists towards change and encouraged progress and collaborative learning between doctors, using benchmarking as a tool. Besides, the study sought to determine the contribution of the interventions used to overall efficiency in performing interventions. This case study focuses on four main aspects of the program. First, it aims to explore an innovative approach to improving the PSCCQ cath lab for patients. Second, it assesses the collective effort of all participants involved in the program. Third, it analyzes the program results and compares them with those of international experiences. And finally, it examines the program's potential benefits for our patients. METHODS:The study's objectives were evaluated through qualitative analysis of in-depth interviews and quantitative data analysis of three variables in the cath lab: radiation dose, time, and inventory. The reason for using mixed methods was to comprehensively understand the same concept from different angles. RESULTS:According to the study, participants improved the safety and effectiveness of our cath lab by reducing the radiation dose and its cost. The study revealed a 52% decrease in the radiation dose for diagnostic cases and an 11% decrease for interventional cases. Similarly, the cost of the radiation dose decreased by 28% for diagnostic cases and 11% for interventional cases. During the observation, it was noted that the participants were highly engaged and willing to adapt to the situation. Some even viewed it as an opportunity for personal growth and improvement in the cath lab. However, they stressed the significance of awareness as a crucial element in improving their behavior and reinforcing it as the foundation for maintaining progress. Furthermore, the study revealed that collaborative work among the participants could have been more optimal. CONCLUSION:The study concludes that implementing innovative improvements to the cath lab was a necessary yet complex undertaking. Participants were more inclined to embrace the changes when they were easily understandable and motivating. The study recommends the appointment of a change agent, the establishment of benchmarks, and the creation of a collaborative working environment between leaders and staff. Above all, the leader should support and sponsor the change to facilitate the transition at various levels.

INTRODUCTION:Childhood-onset thoracic aortic dilatation (TAD) is a heterogenous group of genetic conditions the inheritance of which is largely dominant. To our knowledge, the influence of consanguinity on childhood-onset TAD has not been addressed systematically. We aim to study a cohort of children with TAD in our highly consanguineous population. METHODS:Children with TAD were consecutively recruited. Based on the likelihood of a founder mutation, genetic test was categorized to either targeted gene testing or multi-gene sequencing, followed by genetic screening of first-degree relatives. Clinical data and outcome were reviewed. RESULTS:Thirty-three children, from 20 families, had childhood-onset TAD. Genetic test was positive in 20 children, from 13 families, providing a yield of 65 % (13/20). The median age of onset of TAD was 4.5 years. Eight variants were detected in 4 genes (FBN1, EFEMP2, ACTA2, KANSL1) with a homozygous EFEMP2 variant found in 6 families (46.2 %). Surgical intervention was required in 14 (70 %) cases (13 with EFEMP2, 1 with FBN1 variants) at a median age of 3.5 years. All patients are alive (ages range:3-31 years). CONCLUSIONS:Our work illustrates the impact of consanguinity on the genetics of childhood-onset TAD elucidating severe presentation of recessively inherited form. Our data underscores the importance of genetic screening and early recognition of TAD to achieve excellent outcome.

BACKGROUND:Pediatric cardiomyopathies (CMP) can be familial or idiopathic with increasing detection of genetic mutations. The study is a retrospective single-center review of cardiomyopathy patients from January 2011 to May 2020. Results of the genetic study, as well as the outcome, were reported. Patients were divided according to the type of CMP, age of presentation, and EF at presentation. Univariate and multivariate analysis and ROC and survival curves were done.RESULTS:We reported 229 patients under 14 years of age with a diagnosis of cardiomyopathy, most commonly DCM (160 patients (70%)) followed by HCM (26.2%). 52% presented at 6 months of age or less and 119 (52%) required ICU admission at presentation. The genetic and or metabolic disorder was confirmed in 21.4% of patients, most commonly VLCAD defect (16, 7%) and ELAC2 gene defect (10, 4.4%). During the disease course, 88 patients (38.4%) died (48 with DCM, 39 with HCM, and 1 with RCM). An EF of 20% or less at presentation and presentation at 6 months of age or less carries a risk for mortality in patients with DCM and HCM, respectively (RR 3.88 and 2.06 and OR of 11.09 and 4.35, respectively). Death was more common among HCM patients especially patients with positive genetic abnormality compared with patients with DCM.CONCLUSIONS:The mortality for CMP in children reaches up to 40%, (30% in DCM and 65% in HCM patients). Mortality was higher in those with HCM, DCM with EF of 20% or less, and HCM presented at 6 months of age or less. Whole-exome and/or whole-genome sequencing is advised for all patients of CMP and at-risk family members.

Hyperleukocytosis in leukaemia causes leukostasis, which can lead to thrombosis of arterial systems of various organs and cause renal and retinal thrombosis, acute limb ischemia and myocardial infarction. We report a case of an eight-year-old male child who had pericardial thrombus formation consequential to hyperleukocytosis. Keywords Hyperleukocytosis, Leukostasis, Pericardial thrombus, Leukemia

Abstract Background Myocardial deformation by speckle tracking echocardiography provides valuable information on the left ventricular function. The study aims to assess myocardial deformation in terms of left ventricular strain as an indicator of myocardial function in children after cardiac surgery at outpatient follow-up visits. Methods The study design was a prospective observational cross-sectional study that included pediatric patients after biventricular cardiac surgery during the postoperative follow-up visits in the outpatient department. In addition to conventional echocardiographic examination, two-dimensional speckle tracking echocardiography was done to evaluate myocardial deformation in terms of left ventricular strain. Echocardiographic measurements were done offline and were compared to published reference normal values for age. Study subjects were divided according to age at follow-up into four groups (1 month–1 year, 1–2 years, 2–5 years, and 5–11 years). Results Over ten months, 100 patients (64 males and 36 females) were included in the study. The median age was 30.8 months (IQR 12.8–65.3 months), the median weight was 11.7 kg (IQR 8–17 kg) and the median duration after surgery was 7.3 months (IQR 3.2–30.8 months). Longitudinal strain values were significantly (p < 0.001) lower than reference values for different age groups. Global circumferential strain showed no significant difference from the reference values. The duration after surgery had a statistically significant effect on longitudinal strain values, with improvement of the strain values with increasing intervals after surgery. Conclusion Using myocardial deformation method to evaluate cardiac function may detect underlying cardiac function abnormalities even with normal traditional functional parameters, which could have implications for patient management and follow-up.

BACKGROUND:Drug adherence has been extensively evaluated in many developed countries in the West using different methods of medication adherence measurement; however, there are relatively few reports studying the adherence levels among Saudi patients. Thus, this study will evaluate the adherence to cardiovascular medicines in Saudi patients visiting (PSCC) in Al-Qassim, Saudi Arabia.METHODS:This cross-sectional observational study relied on self-administered questionnaires. This study used the Morisky, Green, and Levine (MGL) Adherence Scale, also known as the MAQ (Medication Adherence Questionnaire), in PSCC's pharmacy waiting room in Qassim, Saudi Arabia.RESULTS:This study included 993 PSCC pharmacy waiting room patients. The patients were between 11 and 50 years old, and 52.7 percent were male. Most participants (71.2%) were above 50, while 16.3% were 41-50. Non-adherent patients cited traveling or being busy (28.6%), forgetting (18.7%), daily multi-medications (7.1%), being sleepy or sleeping (6.6%), and not repeating the prescription (6.6%). The Medicine Adherence Questionnaire indicated that 62.6 percent of patients fully adhered to their medications, and 21.6 percent usually adhered. Only drug adverse effects affected adherence (p =0.0001).CONCLUSION:The current study showed that there is a good level of adherence among patients with cardiovascular diseases toward their diseases. The most common reasons for neglecting medications include traveling or being busy, forgetting multiple medications, and being tired or sleeping. Having experience with side effects was the only significant factor affecting adherence to medications.

Seventeen-month-old child was diagnosed in utero to have congenital complete heart block. The mother has Sjogren's syndrome with high Anti Ro antibodies. The baby was delivered at term with a heart rate of 55 to 60 beats per minute. Echocardiography revealed a structurally normal heart with a small atrial septal defect and moderate patent ductus arteriosus. At the age of 17 months, he developed atrial flutter which was aborted using electrical cardioversion in the Cath lab. No recurrence of the atrial flutter during a one-year follow-up.

Pediatric cardiomyopathy (CM) represents a group of rare, severe disorders that affect the myocardium. To date, the etiology and mechanisms underlying pediatric CM are incompletely understood, hampering accurate diagnosis and individualized therapy development. Here, we identified biallelic variants in the highly conserved flightless-I (FLII) gene in 3 families with idiopathic, early-onset dilated CM. We demonstrated that patient-specific FLII variants, when brought into the zebrafish genome using CRISPR/Cas9 genome editing, resulted in the manifestation of key aspects of morphological and functional abnormalities of the heart, as observed in our patients. Importantly, using these genetic animal models, complemented with in-depth loss-of-function studies, we provided insights into the function of Flii during ventricular chamber morphogenesis in vivo, including myofibril organization and cardiomyocyte cell adhesion, as well as trabeculation. In addition, we identified Flii function to be important for the regulation of Notch and Hippo signaling, crucial pathways associated with cardiac morphogenesis and function. Taken together, our data provide experimental evidence for a role for FLII in the pathogenesis of pediatric CM and report biallelic variants as a genetic cause of pediatric CM.

Even though cardiac computed tomography and magnetic resonance imaging are the gold standard for evaluating the aortic arch in the context of vascular rings in children, echocardiography is usually the first-line modality. The echocardiographic evaluation of the aortic arch in the context of vascular rings in children has received little attention. This article details the step-by-step echocardiographic assessment of the aortic arch in vascular ring patients.

OBJECTIVE:To investigate the effectiveness of the decentralization and virtualization of anticoagulation clinics just before and during the coronavirus disease 2019 (COVID-19) pandemic.METHODS:We conducted a cohort study investigation at Prince Sultan Cardiac Clinics PSCC Qassim region, Saudi Arabia. To evaluate the effectiveness of the virtual coagulation clinic, we calculated the time in therapeutic range (TTR), Morisky score for adherence, and satisfaction. Demographics of the patients were analyzed to group patients based on their regions or districts to facilitate the visits. Thirteen different PHCs/Hospitals were allocated for decentralization based on patient density in that region. Intensive courses were provided for all general practitioners (GPs) regarding warfarin anticoagulation and point of care testing (POCT) using iSTAT. All appointments were scheduled by WhatsApp, with no more actual visits to the main center.RESULTS:Among the included participants (n = 5616), 61.1% were females, 38.9% were males, and the mean age was 60.5 (18-85) years. The total number of clinic visits was 7303 per month, with an average of 1.3 visits per patient. Approximately 95% of the participants had a valvular indication to receive anticoagulation; of them, 55% underwent mitral valve replacement. Moreover, after the virtualization of the INR clinic, keeping INR levels within a therapeutic range was reported in 80% of patients. Regarding patient satisfaction, 90% of the total population was satisfied by the new experience.CONCLUSION:Decentralization and virtualization of the INR clinic have similar TTR results if conducted properly.

Background: Previously published studies suggest that genetic or environmental causes can be observed in 20-30% of congenital heart disease (CHD) patients, which include aneuploidy, single gene defects, pathological copy number variations, and de novo autosomal dominant and recessive inheritance. Moreover, the genetic background of childhood cardiomyopathies (CMs) has not been elucidated well. Objective: The study highlights the value of genetic assessment in diagnosing and family counseling for CHD and pediatric CM patients referred to the genetic clinic in a pediatric cardiology department. Methods: The study involved patients less than 18 years of age attending the cardiogenetic clinic in the pediatric cardiology department between December 2010 and February 2019. The following patient categories who had genetic evaluation were included: CHD in the presence of a syndromic phenotype, patients with CHD having extracardiac congenital anomalies or delayed development, hypertrophic and dilated CM patients, patients with dilated aortic root and ascending aorta, significant CHD in siblings or first -degree relatives, suspected channelopathies; and interrupted aortic arch abnormalities. Results: A total of 285 patients were evaluated in the cardiogenetic clinic. The mean age was 20.2 months, with a range of 0-168. Females and males constituted 153 (53.7%) and 132 (46.3%), respectively. The most common cause of referral to the genetic clinic was the presence of CM (N=134 (46.3%)): hypertrophic CM in 24% and dilated CM in 20% of cases. Seventy-six patients (26.7%) had positive genetic results. The most common genetic abnormality was familial infantile hypertrophic CM -causing gene ELAC2 in 19 (23.5%) cases. Conclusion: It may be beneficial for any pediatric cardiology unit to provide an established genetic clinic. Using a genetic clinic will enhance understanding of CHD pathophysiology, family education, and genetic counseling. Agreement on a well -written protocol and the way forward to specify what congenital heart conditions require genetic investigation should be clarified.

Background: Congenital heart disease (CHD) is a common occurrence in live births, with some exhibiting critical congenital heart disease; therefore, cardiology services should be available around the clock to ensure timely diagnosis and management. This study aims to describe the workload and the need for pediatric cardiac services in a maternity hospital for newborn referrals. Moreover, the study describes the indications for neonatal cardiology consultations.Methods: The prospective cohort study was conducted over four months, from January to April 2022, in the Prince Sultan Cardiac Center Al Qassim region of Saudi Arabia. Prince Sultan Cardiac Center's pediatric cardiology department provides cardiac services to the Maternity and Children Hospital Buraidah Al Qassim. Out of the total 2,606 live births during the study period, the cardiology team evaluated 352 neonates. Neonates less than 30 days of age who were born in the maternity hospital were enrolled in the study. The outborn babies referred from other centers as suspected congenital heart disease for whom a cardiac evaluation was done were excluded. In addition, babies assessed in the emergency room and born elsewhere were excluded. Only new consultations have been considered, excluding follow-up consultations.Statistical analysis: Data about patients' demographic, clinical and echocardiographic findings were recorded on Google Forms and converted to a Google spreadsheet. The Google spreadsheet's inbuilt statistical software was used for analysis. Categorical data were presented as percentages, and numerical data as median and range.Results: The cardiology team evaluated 352 neonates from 2,606 live births over four months, accounting for 13.5 per 100 live births. The median weight was 2.8 kilograms, with a 0.5-4.3 kilogram range. Males comprised 187 (53%), and females comprised 165 (47%). Moreover, full-term, preterm, and post-term accounted for 236 (67%), 113 (32%), and 3 (0.8%) of patients, respectively. The common indications for neonatal cardiac referral were respiratory distress 60 (17%), infants born to diabetic mothers 50 (14%), abnormal fetal echocardiogram 49 (13.9%), family history of abortion or neonatal death 31 (8.8%), and congenital anomalies 30 (8.5%). Systolic murmur was the commonest clinical finding that prompted cardiology referrals 82 (23.2%), followed by desaturation 38 (10.7%) and dysmorphic features 31 (8.8%). Among the congenital cardiac defects, an isolated atrial septal defect (ASD) was seen in 66 (18.5%), isolated patent ductus arteriosus in 50 (14.2%), and ventricular septal defect in 21 (5.9%). Moreover, 13 (4.4%) lesions were critical CHDs. Finally, 27 (7.6%) had a diagnosis of pulmonary hypertension.Conclusion: Knowing the burden of neonatal cardiac assessment on pediatric cardiology services in any maternity center may help the healthcare authorities to allocate resources and optimize the delivery of cardiac services among the neonatal population. Properly allocating pediatric cardiologists to the needed centers may optimize neonatal cardiac services. Moreover, it may decide on the number of pediatric cardiologists that need to be trained each year to meet the requirements of neonatal cardiac services.

Introduction: The diagnosis of Kawasaki disease (KD) is based mainly on clinical findings and supported by laboratory tests. Complete KD fulfills the main clinical criteria, while incomplete KD includes patients with fewer main criteria and compatible laboratory or echocardiographic findings. The study compares the demographic, clinical, laboratory, and echocardiographic parameters between the complete and incomplete KD and early and late presenters. Moreover, it describes the coronary manifestations of the study population. Methodology: A retrospective review of all patients admitted with a diagnosis of KD during the period from January 2010 to September 2020 was conducted. Clinical presentation, laboratory features, echocardiographic observations, and follow-up data were examined. Moreover, the patients were further classified as early presenters (presented within 10 days of fever onset) and late presenters (presented after 10 days of disease onset). A comparison between complete and incomplete KD and early and late presenters was performed for demographic, clinical, and echocardiographic features. Results: A total of 76 patients were admitted with a diagnosis of KD. The median age of presentation was 28 months, with a range of five to 144 months, and the median timing was seven days, with a range of one to 30 days. The median follow-up period was six weeks, with a range of one to 192 weeks. Complete KD was present in 38 patients (50%), and 38 (50%) had incomplete KD. Skin manifestations, oral mucosal changes, skin desquamation, conjunctivitis, and lymphadenopathy were present more in patients with complete KD than incomplete ones. Complete and incomplete diseases did not differ regarding coronary artery lesions. Of the patients, 53 (70%) presented 10 days or less after the onset of fever, and 23 (30%) presented after the 10th day of disease onset. Comparison between early and late presenters revealed significantly greater mucus membrane changes and lymphadenopathy manifestations among the early presenters and coronary artery lesions among the late presenters. Conclusion: The clinical features of KD should prompt early referral for evaluation, echocardiography, and early administration of intravenous immunoglobulin to prevent coronary artery complications. The complete form of Kawasaki does not have more frequent coronary artery lesions than the incomplete form. Additionally, late presenters may be at increased risk for coronary artery abnormalities than early presenters.

Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-beta protein family that translocates cargo molecules such as proteins, RNAs, and ribonucleoprotein complexes into the nucleus in a RanGTP-dependent manner. Current knowledge of the cargoes of importin 8 is limited, but TGF-beta signaling components such as SMAD1-4 have been suggested to be among them. Here, we report that bi-allelic loss-of-function variants in IPO8 cause a syndromic form of thoracic aortic aneurysm(TAA) with clinical overlap with Loeys-Dietz and Shprintzen-Goldberg syndromes. Seven individuals from six unrelated families showed a consistent phenotype with early-onset TAA, motor developmental delay, connective tissue findings, and craniofacial dysmorphic features. A C57BL/6N Ipo8 knockout mouse model recapitulates TAA development from 8-12 weeks onward in both sexes but most prominently shows ascending aorta dilatation with a propensity for dissection in males. Compliance assays suggest augmented passive stiffness of the ascending aorta in male Ipo8(-/-) mice throughout life. Immunohistological investigation of mutant aortic walls reveals elastic fiber disorganization and fragmentation along with a signature of increased TGF-beta signaling, as evidenced by nuclear pSmad2 accumulation. RT-qPCR assays of the aortic wall in male Ipo8(-/-) mice demonstrate decreased Smad6/7 and increased Mmp2 and Ccn2 (Ctgf) expression, reinforcing a role for dysregulation of the TGF-beta signaling pathway in TAA development. Because importin 8 is the most downstream TGF-beta-related effector implicated in TAA pathogenesis so far, it offers opportunities for future mechanistic studies and represents a candidate drug target for TAA.

Objective This study aims to evaluate the radiation dose for transcatheter patent ductus arteriosus (PDA) via the arterial route and compare it with previously published benchmarks. Background Exposure to radiation in the catheterization lab can cause skin injury and cancer in the long run, especially in pediatric patients with complex heart conditions, which necessitate serial catheterizations. Therefore, measuring the patient radiation dose and establishing a benchmark for each cardiac interventional procedure is essential. Material and methods In this prospective study, 34 patients with transcatheter patent ductus arteriosus closure via an arterial route were included. Patients who had silent PDAs, no left heart dilatation and PDA size of less than 2mm had PDA closed via an arterial route. All the study group patients received an Amplatzer duct occluder II-additional size device (St. Jude Medical Corp, St. Paul, MN) using biplane flat-panel fluoroscopy equipment adjusted in accordance with the pediatric parameters. Patients' dose area product, air kerma and fluoroscopy time were recorded in the catheterization lab and finally compared with internationally published reference data. Results Of 73 patients who had transcatheter patent ductus arteriosus closure between April 2021 to December 2021, 34 patients who had a PDA closure via an arterial route were enrolled. The median age and weight were 11.5 (4-168) months and 10.5 (6-31) kg. Twenty-one (61.8%) were males, and 13 (38.2%) were males. The median radiation dose parameters were as follows: air kerma 11 (3-42) milliGray, dose area product 131 (33-443) microGray per m(2), median dose area product indexed to weight 12 (1-48) microGray m(2) per kg, fluoroscopy time 2 (2-4) min and frame rate 15 (7.5-15) frames per second. Due to many factors, our radiation dose parameters were less than internationally published reference values for transcatheter PDA closure. Conclusion Patient selection, detailed pre-catheterization echocardiography and procedure planning are essential for accomplishing device closure of PDA with a significant reduction in radiation dose. Hemodynamic assessment in the catheterization lab is unnecessary for most PDA patients. Additionally, a next-generation imaging platform equipped with flat-panel detectors and adjusted for pediatric settings and a fluoro recording option can be used to reduce radiation exposure.