This ambispective cohort study evaluates the effectiveness of cardioprotective strategies in reducing anthracycline-induced cardiotoxicity in pediatric patients with acute lymphoblastic leukemia (ALL). We conducted a single-center, historically controlled ambispective cohort study at Kunming Children's Hospital. Children with newly diagnosed ALL treated with the CCLG-ALL2018 protocol between May 2018 and May 2020 comprised the retrospective historical control cohort (no dexrazoxane). After institutional adoption of dexrazoxane, consecutive eligible patients treated between May 2020 and May 2022 were prospectively enrolled and followed according to a prespecified cardiac monitoring schedule. The exposure (use of dexrazoxane) was determined by calendar time rather than randomization. The combination therapy group exhibited significantly lower rates of electrocardiogram and echocardiogram abnormalities (P < 0.01 and P < 0.01, respectively), suggesting a notable cardioprotective effect. Although baseline cardiac markers did not show significant differences between the groups, post-treatment levels of cardiac troponin T were significantly improved in the combination therapy group (P < 0.05). Additionally, trends toward improved left ventricular ejection fraction and Creatine Kinase-Myocardial Band levels were observed, although these did not reach statistical significance. Importantly, the use of the cardioprotective agent did not lead to a significant increase in adverse reactions. Incorporating a cardioprotective strategy into pediatric ALL treatment protocols appears to lower the risk of anthracycline-induced cardiotoxicity without compromising safety, hence boosting patient outcomes. These findings should be interpreted in light of the historically controlled, nonrandomized design and potential time-related confounding.

The objective of this study is to evaluate whether early enzyme replacement therapy (ERT) initiation is associated with a lower incidence of echocardiogram abnormalities and cardiac conduction abnormalities compared to later ERT initiation. We identified a cohort of patients treated with ERT for infantile onset Pompe disease (IOPD) and evaluated their cardiac outcomes by comparing clinically collected longitudinal functional echocardiogram and electrocardiogram (EKG) data. Longitudinal mixed-effects analysis was used to compare cardiac outcomes among the cohort based on timing of ERT initiation as a continuous variable (months of age) and accounted for repeated measures in an individual patient. Time-to-event analysis and Cox regression were performed to evaluate the time to achievement of normal left ventricular mass index (LVMI) based on ERT initiation as a dichotomous variable (≤ 1 month versus > 1 month of age). Early treatment was associated with significant improvements in cardiac remodeling as demonstrated by multiple cardiac parameters with better outcomes based on earlier treatment such as interventricular septum thickness in diastole and systole, left ventricular posterior wall thickness in diastole and systole, and biventricular hypertrophy. The early-treated cohort (those started on ERT ≤ 1 month of age) achieved a normal LVMI faster compared to late-treated patients. Early treatment with ERT in patients with IOPD leads to improved cardiac chamber dimension parameters. Treatment initiation ≤ 1 month of age can shorten the time to achieve a normal LVMI. Our findings were limited by the nature of the data collection, which was retrospective and clinically driven; the results presented in this study, however, support the clinical importance of early therapeutic intervention in IOPD. Early initiation with ERT in patients with IOPD can shorten the time to achieve a normal LVMI and can improve cardiac chamber dimension parameters.

Background: Diabetes during pregnancy is a major risk factor for congenital heart disease (CHD), particularly septal defects and ventricular hypertrophy. Hemoglobin A1c (HbA1c) and the Oral Glucose Tolerance Test are screening measures used to diagnose and control diabetes in pregnancy. This retrospective study compares gestational and pre-gestational diabetes and CHD outcomes, the effects of glycemic control, diabetic treatment, and other maternal factors. Methods: Medical records of 217 infant-mother dyads from 2020-2024 were analyzed. Maternal HbA1C levels from the first and second trimesters were recorded. Fetal and postnatal echocardiograms were reviewed to identify CHD. An abnormal postnatal echocardiogram during the first three months of life was deemed to have CHD. Data was analyzed using descriptive statistics, logistic regression, and an ROC was calculated on HbA1C for the predictive value on CHD. Results: CHD was diagnosed in 21.7% of infants. Mean gestational age was 36 weeks 5 days (24-41 weeks) and mean maternal age was 32.6 years (18-45 years). Mean birth weight was 3096 grams (640-5465 grams). CHD was more common in those with pre-gestational diabetes than gestational diabetes 26.4% vs 15.6%; p = 0.055. The most frequent CHDs were atrial septal defect (44.7%), patent ductus arteriosus (36%), left ventricular hypertrophy (27.6%), and ventricular septal defect (22.3%). Among mothers, the classes of diabetes were type 2 diabetes (45%), gestational diabetes (44%), prediabetes (8.8%) and type 1 diabetes (2.3%). Logistic regression analysis showed that higher first-trimester HbA1c levels was significantly associated with an increased odd of CHD; OR 1.42 (CI: 1.10–1.86); p = 0.009. Second-trimester HbA1c levels were not significantly associated with CHD; p &gt; 0.05. A decreasing trend in HbA1c and gestational age was significant for CHD, OR 0.81 (CI: 0.68-0.95); p = 0.012. The ROC curve for HbA1c resulted with an AUC of 0.67 (CI: 0.53-0.81); p = 0.015. Conclusion: Poor first-trimester glycemic control is significantly associated with an increased odds of CHD in infants born to diabetic mothers including gestational diabetes. Increasing gestational age and decreasing HbA1c trends are protective factors, emphasizing the importance of early pregnancy diabetes management. HbA1c levels are moderately predictive of CHD.

Predicted Risk, Preclinical Heart Failure Measures, and Incident Heart Failure: The ARIC Study.

Although lung ultrasound (LUS) can detect specific findings in decompensated congestive heart failure (dCHF), it is largely unavailable to hospitalized patients outside of point-of-care ultrasound practice. Therefore, we sought to determine if 4 lung views added value to echocardiography and whether LUS could be performed expeditiously in an inpatient echo lab. Consecutive inpatient echo studies from a 300-bed community hospital included two posterobasal and two anteroapical lung views and were retrospectively reviewed for: (1) echo parameters including EF < 40%, E/e'>13, pseudonormal E/A ratio, among others, of which the presence of any one parameter defined an abnormal echocardiogram, Echo+, and (2) LUS bilateral findings of 3-or-more B-lines or pleural effusion defined an abnormal lung study, LUS+. Patient charts were reviewed for the clinical diagnosis of dCHF as the reference standard. Diagnostic accuracies were determined for Echo, LUS, and their combination in predicting dCHF by univariate and area under the receiver-operating characteristic (AUC) analyses. The time necessary to perform the LUS was recorded. Of n = 129 inpatients, mean (±SD) patient age was 67.0 ± 16.3 years, 57% were male, 32/129 (25%) had dCHF. LUS + was present in 65/129 (50%) and was related to dCHF (p < 0.0001). Despite the high 91% sensitivity of Echo + alone, the addition of LUS findings improved specificity from 49 to 89% and accuracy from 60 to 84%. Lung imaging views required only 95s ± 42 [range: 30-227] to perform. The addition of 4 simple lung views to the standard echocardiogram improves diagnostic accuracy for decompensated CHF without increasing imaging resources. These pilot data support integrating lung ultrasound with standard echocardiography for healthcare delivery in hospital settings.

Abstract: BACKGROUND: Cardiovascular diseases are a leading cause of morbidity and mortality in Nigeria, with regional variations in disease patterns. Echocardiography is a key diagnostic tool for evaluating heart diseases, particularly in resource-limited settings, yet data on their echocardiographic spectrum remain sparse in some regions. OBJECTIVES: This study aimed to describe the spectrum of heart diseases diagnosed via echocardiography at the Federal Medical Centre (FMC), Gusau, a tertiary hospital in Northwestern Nigeria. MATERIALS AND METHODS: A retrospective analysis of echocardiographic data from September 2022 to February 2025 was conducted. Patients aged ≥ 15 years referred for echocardiography at the Federal Medical Centre, Gusau, were included. Data on demographics, diagnoses, ventricular function, and left ventricular (LV) geometry were analyzed using SPSS version 25.0. RESULTS: Among 841 patients (mean age 48 ± 18 years, 59% were female), 89.4% had abnormal echocardiograms. Hypertensive heart disease (HHD) was the most common diagnosis (57.6%), followed by peripartum cardiomyopathy (10.2%) and dilated cardiomyopathy (DCM, 9.3%). Diastolic dysfunction (82%) was more prevalent than systolic dysfunction (54%), with Type I diastolic dysfunction (44.8%) being the most frequent. Significant gender disparities were observed, with HHD, DCM, and IHD ( P &lt; 0.05). LV geometry abnormalities included eccentric LV hypertrophy (LVH, 37.8%) and concentric LVH (17.8%) among others. CONCLUSION: HHD is the leading cardiac pathology in this region, with a high burden of diastolic dysfunction. Early cardiovascular risk screening and management with targeted interventions for hypertension control and gender-specific cardiac care are needed.

ABSTRACTAwareness of health disparities that exist across different self‐identified racial and ethnic groups are essential to developing interventions that improve the quality of care of patients with rare diseases such as pulmonary arterial hypertension (PAH). We sought to determine whether there are important differences in clinical characteristics and illness severity at the time of PAH diagnosis among different racial/ethnic groups. 110 patients followed at the University of Illinois Health Pulmonary Hypertension Clinic diagnosed with PAH between 2010 and 2019 were enrolled in our retrospective cohort study. Self‐reported race, ethnicity, ZIP code, and standard clinical measures were obtained from the electronic medical record. Comparisons of clinical severity, hemodynamic measurements, social vulnerability, income, and timing of diagnostic testing were made between non‐Hispanic Black and non‐Black subjects. Our data shows that PAH is more severe at the time of diagnosis in non‐Hispanic Black patients compared to non‐Black patients, by both clinical and hemodynamic assessments. Tricuspid regurgitant velocity correlated poorly with invasive hemodynamics in non‐Hispanic Black patients, yet measures of RV performance were worse than non‐Black counterparts. Increased social vulnerability and income inequality was evident between the groups. When compared to non‐Black patients, there were significant delays between abnormal echocardiogram findings and completion of diagnostic catheterization. These results implicate concerning health disparities in non‐Hispanic Black patients with PAH. More severe disease at time of diagnosis and longer delays from time of symptom onset to PAH diagnosis have both been associated with increased mortality in this population and future work should be aimed at comprehensive strategies to reduce this disparity.

Returning Individual-Level Urgent or Emergent Research Results to Participants: The Project Baseline Health Study Experience.

Introduction: Unscheduled return visits to the Emergency Department within 72 h are widely used as a quality indicator for Emergency Medical Services (EMS). Timely identification of the predictors of a patient’s return and addressing them during the first EMS encounter could minimize the potential of the patient’s return by triggering attentive, extended, alternate, and/or focused care before discharging the patient home. This study explores the effect of selected factors on adult EMS patients’ potential for an unscheduled return visit to EMS within a 72-h timeframe since the onset of being discharged from the first (index) visit. Methods: A retrospective case-control study of return-to-EMS cases was conducted at Johns Hopkins Aramco Healthcare (JHAH) Company using the data of patients above the age of 15 who visited EMS during the period from October 2022 to March 2023. Data were extracted from both the RLDatix and Epic systems. The study group included a total of 338 patients who returned to EMS within 72 h, while the control group included a total of 247 patients who visited the EMS only once. A computerized stratified random sampling was used to select the control group cases. Nineteen predictors, including demographics, clinical presentations, diagnoses, comorbidities, and utilization measures, were assessed. Categorical variables were reported as frequencies and percentages, and associations were assessed using Chi-square tests. Binary logistic regression analysis was then performed to examine associations between potential factors that influence the EMS returns. Results: Patients older than 45 years had a higher incidence of return to EMS within 72 h (55%) than similar patients who only visited EMS once (42%). Meanwhile, the proportion of cases with triage levels II and III were higher for patients who returned within 72 h (6% and 82%, respectively) than for those cases who visited once (2% and 56%, respectively). Patients who returned within 72 h had a higher average number of abnormal test results compared with the control group cases (2.49 vs. 0.68, p < 0.0001). In addition, shifts overlap during the first EMS visit was more common in the study group (32%) than in the control group (13%). The average number of EMS visits during the 6-month period preceding the index EMS visit was higher among patients who returned within 72 h (2.33) compared to patients who only visited once (1.12). Finally, the average number of comorbidities was higher for patients who returned within 72 h (1.92) compared to patients who only visited once (0.83). Conclusion: This study reveals distinct factors that are significantly associated with a higher potential for adult EMS cases returning within 72 h. In particular, patients older than 45 years, cases that were triaged at levels II and III, cases exhibiting more subacute noncritical abnormal blood test results across various body systems, and those displaying subacute noncritical abnormal echocardiogram results had elevated odds of returning to EMS. Future interventions should focus on those predicators and ensure that both appropriate and timely measures are implemented or, at least, taken into consideration to minimize potential EMS revisits among the adult patient population.

Abstract Introduction Family screening is a key component in the management of patients with a suspicion or confirmed cardiomyopathy. Disease heterogeneity and variable penetrance makes it difficult to predict the likelihood of disease in screened relatives. The objective of this small explorative study was to assess the demographic and baseline clinical factors which may predict the need for surveillance and/or diagnosis in relatives. Methodology: The BEAT-IT national cardiac screening program enrolled 2708 adolescents (mean age 15 years). Family members of probands (identified during the program) with a preclinical or clinical cardiomyopathy diagnosis were invited to undergo screening. This consisted of a health questionnaire, ECG and echocardiogram. Those with an abnormal preliminary screen were invited to undergo further evaluation. A positive outcome was defined as an individual given a diagnosis or requiring surveillance. Data was analysed using SPSS v23. Chi squared / t-test were used for univariate analysis. A logistic regression model (backward stepwise method) was used to identify independent predictors. A p value of &amp;lt;0.05 was considered statistically significant. Results 18 individuals were identified with a preclinical phenotype (n=17) or diagnosis (n=1, HCM) suggestive of cardiomyopathy. A clinically actionable variant (CAV) was present in 4 probands (n=2 MYH7, n=1 MYBC3, n=1 ACTC1). Their relatives were offered screening, 76 family members gave consent. Most were female (n=46, 60.5%), with a mean age of 40±16 years at evaluation. A few had symptoms (n=2, 2.6%) and a family history (FH) of sudden cardiac death (SCD) (n=11, 14.5%). An abnormal ECG was observed in 10 individuals (13.2%). Lateral TWI was the most frequently observed ECG pattern (n=5, 6.6%). Ten (13.2%) harboured the familial genetic variant. Three (3.9%) were eventually diagnosed with cardiomyopathy (n=2 HCM, n=1 DCM). Another 13 (17.1%) require surveillance. Several factors were significantly associated with the probability of a positive outcome: i) proband lateral TWI (p=0.009), ii) symptoms (p=0.042), iii) FH of SCD (p=0.009), iv) abnormal relative ECG (&amp;lt;0.001), v) lateral TWI (p&amp;lt;0.001) and vi) abnormal echocardiogram (p=0.008). Age, gender, relationship to proband, proband ECG type and proband clinical status (diagnosis vs pre-clinical presentation) poorly predicted outcome (p&amp;gt;0.05). A binary logistic regression model identified FH of SCD, relationship to proband (first degree vs non-immediate family), and an abnormal relative ECG as reliable independent predictors for a cardiomyopathy diagnosis or need for surveillance in screened relatives, with a 92.1% accuracy. Conclusion The diagnostic yield of a cardiomyopathy family screening program was 3.9%, with a further 17.1% requiring surveillance. A regression model composed of FH of SCD, relationship to proband and an abnormal ECG could predict a diagnosis or need for surveillance in screened relatives with a 92.1% accuracy.

Abstract Background Occupational cardiology it’s a new branch of cardiology aimed at cardiovascular prevention in workers. Currently, only few high-hazard occupations provide for a routine cardiac screening and standardized protocols are lacking. The car manufacturing company Ferrari has adopted a voluntary Corporate Wellness Program (CWP) for all its employees, including a medical examination and a monitored exercise stress test (ET), in recent years. In this context, exercise-induced ventricular arrhythmias (VA) may be found, yet their burden and significance in an apparently healthy non-athletic population is unknown. Purpose The proposal of the study is to investigate the prevalence of exercise-induce VA in a population of apparently healthy workers and to search for potential pathological correlations. Methods Between January 1, 2021 and December 31, 2023, all workers who underwent a complete clinical examination, resting ECG, bike ET and blood tests were included. Data were retrospectively retrieved. All ECG tracings were reviewed to characterize different aspects of the arrhythmias such as frequency, morphology and correlation to workload. If deemed appropriate, further investigations such as echocardiogram, Holter ECG, coronary computed tomography (CCT) and cardiac magnetic resonance (CMR) imaging were requested and subsequently recorded. Results Over three years of Ferrari Formula Benessere CWP, 3.158 employees were screened. They were mostly men (86%) and with an average age of 42 years. Main cardiovascular risk factors and other baseline characteristics are reported in Table 1. Most ET were maximal with a mean peak heart rate (HR) to maximal HR of 91±7%, a peak power of 2,8 ±0,8 W/kg and a mean power of 1,6 ±0,4 W/kg. Among all, 414 workers (13%) experienced at least one VA during ET, specifically: 88% were isolated premature ventricular complexes (PVCs), 11% were coupled PVCs and 3% were non-sustained ventricular tachycardias (NSVT), defined as ≥ 3 continuous PVCs (Figure 1A). Almost all arrhythmias were monomorphic (95%) with the most common morphology being left bundle branch block (LBBB) with inferior axis (36%), followed by right bundle branch block (RBBB) with superior axis (27%), LBBB with superior axis (18%) and RBBB with inferior axis (12%) (Figure 1B). Typical onset of VA was at high load (43%) or throughout recovery (21%) (Figure 1C). Further investigations reported CVPs &amp;gt;1000/24h for 10 Holter monitors, 9 abnormal echocardiograms and 2 CCTs with borderline myocardial bridges. All performed CMRs were normal. In no case a potential related pathology of VA was identified. Conclusion Exercise-induced VA in apparently healthy workers are relatively common and in most cases do not imply an organic pathology of the heart. Follow-up studies are needed to explore prognosis.Figure 1Figure 2

Results of cardiovascular testing among pregnant and postpartum persons undergoing standardized cardiovascular risk assessment.

PREVALENCE AND PATTERNS OF ABNORMAL ECHOCARDIOGRAM FINDINGS IN HYPERTENSION PATIENTS AT KING FAHAD GENERAL HOSPITAL IN JEDDAH, SAUDI ARABIA

Introduction: Selective fetal growth restriction (sFGR) complicates 10–15% of monochorionic twin gestations. Prior studies reported neonatal cardiac hypertrophy present in 25% of twins impacted by sFGR, most commonly the larger twin (80%). Our primary objective was to characterize fetal cardiac structural and functional echocardiogram findings in sFGR twins. Methods: A retrospective cohort analysis was performed of monochorionic twin pregnancies complicated by type II or type III sFGR managed and delivered at a single tertiary center from 2015 to 2023. Patients diagnosed with twin to twin transfusion syndrome, twin anemia-polycythemia sequence, or undergoing laser treatment for any indication were excluded. All twin pairs underwent fetal echocardiogram by board-certified pediatric cardiologists at our center. In cases of abnormal fetal echocardiograms, a pediatric echocardiogram was performed after birth. Clinically relevant data were obtained from electronic medical records. Right and left myocardial performance index (MPI) were calculated incorporating ejection, isovolumetric contraction, and isovolumetric relaxation times as well as combined cardiac output, cardiac hypertrophy, and tricuspid regurgitation. Results: During the study period, 35 pregnancies complicated by type II or type III sFGR were managed by our team. Two patients were excluded as they did not undergo fetal echocardiograms as planned. The remaining 33 twin pairs underwent echocardiogram analysis at 20 weeks ± 6 days on average. Compared to the sFGR fetuses, appropriate for gestational age (AGA) fetuses were more likely to have tricuspid regurgitation (TR, 37 vs. 9%, p = 0.02), right ventricular hypertrophy (RVH, 42 vs. 9%, p = 0.003), left ventricular hypertrophy (31 vs. 3%, p = 0.006), elevated right MPI (0.36 [0.26, 0.49] vs. 0.29 [0.24, 0.35], p = 0.03), and elevated left MPI (0.32 [0.29, 0.47] vs. 0.29 [0.25, 0.35], p = 0.02). No difference was noted in combined cardiac output (534 [483, 596] vs. 522 [447, 596], p = 0.41). At birth, 55% (6/11) of AGA fetuses with abnormal fetal echocardiograms had RVH and TR compared to 25% (1/4) of sFGR fetuses. Conclusion: In this cohort of expectantly managed monochorionic twins complicated by type II and type III sFGR, larger twins were noted to have several findings consistent with hemodynamic changes which could reflect cardiac overload in the prenatal period. In addition, these may persist during neonatal life. Further assessment of neonatal and pediatric outcomes is needed to determine the long-term implications of these sonographic findings.

Cardiomyopathies represent a diverse group of myocardial disorders characterized by structural and functional abnormalities in the absence of significant coronary artery disease or other primary causes. This review highlights the diagnostic and prognostic value of cardiac magnetic resonance and computed tomography in the assessment of cardiomyopathies. While echocardiography remains the first-line imaging modality, cardiac magnetic resonance (CMR) and cardiac computerized tomography (CCT) offer superior tissue characterization, morphological assessment, and functional evaluation, crucial for phenotyping cardiomyopathies into hypertrophic, dilated, restrictive, arrhythmogenic, and non-dilated left ventricular subtypes. For hypertrophic cardiomyopathy, CMR enables precise identification of fibrosis, hypertrophy distribution, and risk stratification for sudden cardiac death. CMR is pivotal in identifying phenocopies, like cardiac amyloidosis and Anderson-Fabry disease, and differentiating between pathological and physiological remodeling in athlete's heart. For dilated cardiomyopathy, late gadolinium enhancement, T1 mapping, and extracellular volume measurements aid in distinguishing etiologies and predicting adverse outcomes. In arrhythmogenic right ventricular cardiomyopathy, CMR demonstrates superior sensitivity for detecting structural abnormalities in the right ventricle, and the presence of fibrosis which is associated with arrhythmic risk. CCT main roles are excluding coronary artery disease and complementing CMR. This review proposes a diagnostic pathway integrating multimodality imaging for clinical management in cardiomyopathies.

Introduction: Osteogenesis imperfecta (OI) is an inherited type 1 collagen disorder leading to bone fragility and increased fractures. Cardiovascular disease is the leading cause of death of adults with OI, but studies on cardiac changes from this collagen defect in children are sparse. We aim to fill this gap by assessing changes in EKG and echocardiogram (ECHO) variables in children with OI. Hypothesis: Children with OI will exhibit arrhythmogenic EKG changes and/or ECHO abnormalities which will precede changes that are documented in adults. Methods: 53 children with OI receiving care at Children’s Mercy-Kansas City were identified via ICD-10 codes. 64 with Duchenne Muscular Dystrophy (DMD, expected cardiac abnormalities) and 55 with non-accidental trauma (NAT, no expected cardiac abnormalities) served as controls. We specifically compared the most recent EKG and ECHO metrics extracted from medical charts by Kruskal-Wallis testing. Results: EKG: Children with OI differed from both NAT and DMD. OI had shorter median PR intervals (p&lt;0.001) plus longer median QRS (p&lt;0.001) and QTc intervals (p=0.002) than NAT. DMD had the shortest PR and longest QRS and QTc (see Table). Echo: The three groups showed no difference in systolic/diastolic BP or LV thickness. However, OI differed from NAT and/or DMD in other metrics. OI had higher end diastolic volume (p&lt;0.001), end systolic volume (p&lt;0.001) and stroke volume (p&lt;0.05) than NAT, but lower values than the DMD group. Similarly, OI children had higher LV mass and LV internal diastolic and systolic diameters than NAT, but lower than DMD (p&lt;0.001). OI LVOT diameter and Aortic root diameter were lower than NAT, but not as low as DMD (p&lt;0.05 and p&lt;0.001, respectively). Conclusion: Children with OI exhibit EKG and ECHO abnormalities that are similar to but less severe than for DMD, a group in which cardiovascular abnormalities are well documented. These abnormalities may be predictive of arrythmia/sudden cardiac death and/or functional decline in heart function. Our data suggest that OI children could benefit from ongoing routine cardiology studies along with orthopedic/metabolic management. Future studies would assess effects of age and OI treatments on cardiac abnormalities.

BackgroundChest wall deformities, though relatively uncommon in childhood and adolescence, significantly affect aesthetic perception and can impact cardiac and respiratory function. This study aims to compare individuals with pectus deformities to a healthy control group, shedding light on the condition’s etiology and prognosis.MethodConducted as a case-control study between 2020 and 2022, the research included a case group of 71 patients with pectus excavatum or pectus carinatum who were followed up at the Pediatric Cardiology outpatient clinic. The control group consisted of 80 children without chronic diseases. Researchers retrospectively reviewed patient files, recording demographic data, echocardiography findings, and serum levels of calcium, phosphate, vitamin D, and alkaline phosphatase.ResultsPatients with chest wall deformities exhibited significantly lower serum levels of vitamin D, calcium, and phosphorus compared to those without deformities. Males constituted 77% of the case group, with 15.5% exhibiting abnormal echocardiogram results, with mitral valve anomalies being most prevalent.ConclusionWhile pectus deformities may lead to cardiac or respiratory issues, patient concerns often center around aesthetics. Unlike typical studies focused on surgical techniques and postoperative patients, our study focused on all diagnosed patients. Findings emphasize the importance of monitoring calcium, phosphorus, and vitamin D levels in pectus patients to manage surgical risks and facilitate recovery.

Variability in Repeat Tricuspid Regurgitation Velocity Among Children with Sickle Cell Disease

Long-Term Outcomes and Late Complications of Allogeneic Stem Cell Transplant with CD34+ Positive Selection in Adults with Acute Leukaemia and Myelodysplastic Syndrome: A Single-Centre Study

Abstract Introduction The phenotypic features of Nexilin related cardiomyopathies (NEXN-CMP) are poorly understood and under-reported. A better understanding of the genotype-phenotype association is paramount. Objectives The main objective of this study was to investigate the causative role and phenotypic expression of the NEXN gene in the Maltese Islands. Methodology Probands and relatives referred for a cardiac gene panel were evaluated. Subjects harbouring NEXN variants were identified. Those finally classified as having NEXN-CMP were evaluated for the purpose of this study. Results Out of 444 probands (confirmed or suspected cardiomyopathy), 12 probands were labelled with NEXN-CMP. This equates to a prevalence of 2.7% in the local cardiomyopathy pool, substantially higher to what has been previously reported. Genetic testing identified 19 individuals (probands [n=15] and relatives [n=4]) all harbouring the same novel frameshift variant: NEXN c.1589_1590del p.(Arg530LysfsTer3), classified as likely pathogenic according to ACMG criteria. Three (15.8%) harboured a second pathogenic variant (n=2 MYH7, n=1 TTN). Another 3 were not clinically affected (n=1 FH of SCD, n=2 first degree relatives of NEXN-CMP probands). These individuals were excluded from further analysis. The NEXN-CMP cohort (n=13) consisted of a dominant male (68.8%) population (54±22 years at presentation, 7.7% athletes, 12 families). Most were probands (n=12/13). DCM was the dominant phenotype (n=8, 61.5%) followed by HNDLVC (n=3, 23.1%) and HCM (n=2, 15.4%). One infantile DCM was homozygous for the NEXN variant. Symptoms were the most frequent method of presentation (n=6, 46.2%), followed by a FH of SCD and/or cardiomyopathy (n=3, 23.1%), abnormal echocardiogram (n=2 15.4%), OHCA (n=1, 7.7%) and inutero diagnosis (n=1, 7.7%). A FH of SCD was present in a third (n=4/12, 33.3%). The ECG was abnormal in the majority (n=10/11, 90.9%). Most patients had a LBBB (6/11, 54.5%) followed by inferolateral TWI (n=3, 27.3%), ventricular arrhythmias/high-grade AVB (n=1, 9.1% each). NEXN-CMP appears to be a left dominant cardiomyopathy. LV dilation and reduced LVEF were present in 84.6%. Non-ischaemic scar was present in 3/8 cases (37.5%), 2 had a ring-like pattern. RV morphology and function was normal in all cases. Tachyarrhythmias were frequently observed (n=4/6, 66.7%) during holter monitoring or exercise testing (n=2 NSVTs, n=1 VEs, n=1 SVEs). A fourth (n=3/11, 27.3%) were implanted with an electrophysiological device. No significant predictors for device implantation were identified at univariate analysis. One patient is on the transplant list (infantile DCM). Conclusion The prevalence of NEXN-CMP in Malta appears higher than previously reported (2.7%), possibly because of a founder mutation. DCM and HCM are the dominant presenting phenotypes, frequently associated with symptoms, an abnormal ECG, a FH of SCD and LV dilatation/dysfunction.