Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study.

BACKGROUND: Infantile hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder. Apart from registries in high-income nations, there is a shortage of data on the aetiological basis of infantile HCM in low- and middle-income nations. This study attempts to characterise the phenotypic expression, genetic architecture and short-term clinical outcomes of infantile HCM from a South Asian tertiary referral centre. METHODS: This study includes all infants from the Amrita HCM cohort between January 2011 and July 2021. Clinical history, ECG, echocardiographic data, and genetic analyses were evaluated. RESULTS: 34 patients with infantile HCM were diagnosed at a median age of 3.7 months (IQR 1-6 months). Underlying aetiologies were RASopathy (n=13; 38%), non-syndromic (n=12; 35%) and inborn errors of metabolism (n=9; 27%). Genetic analysis was done in 20 patients (59%) with a yield of 90%. Clinical presentation included failure to thrive (n=29; 85%), dyspnoea on exertion (n=23; 68%) and clinical heart failure (n=24; 71%). Echo showed concentric left ventricular hypertrophy in 22 patients (65%), obstructive HCM in 11 patients (32%) and left ventricular systolic dysfunction in 6 patients (18%). The mortality rate was 10.0 deaths per 100 patient years over a median follow-up period of 3.1 years. The main risk markers for mortality were the age at diagnosis, gender and concentric Left ventricular hypertrophy. CONCLUSIONS: This cohort demonstrates the morphological, functional and genetical heterogeneity of infantile HCM, enunciating the need for integration of cardiology, metabolic and genetic services to achieve optimum outcomes in these patients.

Efficacy of radiation attenuating caps in reducing radiation doses received at the cerebral level in interventional physicians: a systematic review.

Background.Anecdotal reports are appearing in the scientific literature about cases of brain tumors in interventional physicians who are exposed to ionizing radiation. In response to this alarm, several designs of leaded caps have been made commercially available. However, the results reported on their efficacy are discordant.Objective.To synthesize, by means of a systematic review of the literature, the capacity of decreasing radiation levels conferred by radiation attenuating devices (RADs) at the cerebral level of interventional physicians.Methodology.A systematic review was performed including the following databases: MEDLINE, SCOPUS, EBSCO, Science Direct, Cochrane Controlled Trials Register (CENTRAL), WOS, WHO International Clinical Trials Register, Scielo and Google Scholar, considering original studies that evaluated the efficacy of RAD in experimental or clinical contexts from January 1990 to May 2023. Data selection and extraction were performed in triplicate, with a fourth author resolving discrepancies.Results.Twenty articles were included in the review from a total of 373 studies initially selected from the databases. From these, twelve studies were performed under clinical conditions encompassing 3801 fluoroscopically guided procedures, ten studies were performed under experimental conditions with phantoms, with a total of 88 procedures, four studies were performed using numerical calculations with a total of 63 procedures. The attenuation and effectiveness of provided by the caps analyzed in the present review varying from 12.3% to 99.9%, and 4.9% to 91% respectively.Conclusion.RAD were found to potentially provide radiation protection, but a high heterogeneity in the shielding afforded was found. This indicates the need for local assessment of cap efficiency according to the practice.

How AI and Robotics Will Advance Interventional Radiology: Narrative Review and Future Perspectives.

The rapid advancement of artificial intelligence (AI) and robotics has led to significant progress in various medical fields including interventional radiology (IR). This review focuses on the research progress and applications of AI and robotics in IR, including deep learning (DL), machine learning (ML), and convolutional neural networks (CNNs) across specialties such as oncology, neurology, and cardiology, aiming to explore potential directions in future interventional treatments. To ensure the breadth and depth of this review, we implemented a systematic literature search strategy, selecting research published within the last five years. We conducted searches in databases such as PubMed and Google Scholar to find relevant literature. Special emphasis was placed on selecting large-scale studies to ensure the comprehensiveness and reliability of the results. This review summarizes the latest research directions and developments, ultimately analyzing their corresponding potential and limitations. It furnishes essential information and insights for researchers, clinicians, and policymakers, potentially propelling advancements and innovations within the domains of AI and IR. Finally, our findings indicate that although AI and robotics technologies are not yet widely applied in clinical settings, they are evolving across multiple aspects and are expected to significantly improve the processes and efficacy of interventional treatments.

Day-to-day reliability of basal heart rate and short-term and ultra short-term heart rate variability assessment by the Equivital eq02+ LifeMonitor in US Army soldiers.

INTRODUCTION: The present study determined the (1) day-to-day reliability of basal heart rate (HR) and HR variability (HRV) measured by the Equivital eq02+ LifeMonitor and (2) agreement of ultra short-term HRV compared with short-term HRV. METHODS: Twenty-three active-duty US Army Soldiers (5 females, 18 males) completed two experimental visits separated by >48 hours with restrictions consistent with basal monitoring (eg, exercise, dietary), with measurements after supine rest at minutes 20-21 (ultra short-term) and minutes 20-25 (short-term). HRV was assessed as the SD of R-R intervals (SDNN) and the square root of the mean squared differences between consecutive R-R intervals (RMSSD). RESULTS: The day-to-day reliability (intraclass correlation coefficient (ICC)) using linear-mixed model approach was good for HR (0.849, 95% CI: 0.689 to 0.933) and RMSSD (ICC: 0.823, 95% CI: 0.623 to 0.920). SDNN had moderate day-to-day reliability with greater variation (ICC: 0.689, 95% CI: 0.428 to 0.858). The reliability of RMSSD was slightly improved when considering the effect of respiration (ICC: 0.821, 95% CI: 0.672 to 0.944). There was no bias for HR measured for 1 min versus 5 min (p=0.511). For 1 min measurements versus 5 min, there was a very modest mean bias of -4 ms for SDNN and -1 ms for RMSSD (p≤0.023). CONCLUSION: When preceded by a 20 min stabilisation period using restrictions consistent with basal monitoring and measuring respiration, military personnel can rely on the eq02+ for basal HR and RMSSD monitoring but should be more cautious using SDNN. These data also support using ultra short-term measurements when following these procedures.

How to use chest radiographs and ECGs in children with pacemakers.

A child with pacemaker is an uncommon presentation to the general paediatric ward, and most clinicians without previous experience may not feel confident in assessing these patients. This article provides an overview of paediatric pacemakers and commonly found radiological and electrophysiological correlates along with clinical consideration.

Effectiveness of eHealth Interventions in Improving Medication Adherence Among Patients With Cardiovascular Disease: Systematic Review and Meta-Analysis.

BACKGROUND: Nonadherence to medication among patients with cardiovascular diseases undermines the desired therapeutic outcomes. eHealth interventions emerge as promising strategies to effectively tackle this issue. OBJECTIVE: The aim of this study was to conduct a network meta-analysis (NMA) to compare and rank the efficacy of various eHealth interventions in improving medication adherence among patients with cardiovascular diseases (CVDs). METHODS: A systematic search strategy was conducted in PubMed, Embase, Web of Science, Cochrane, China National Knowledge Infrastructure Library (CNKI), China Science and Technology Journal Database (Weipu), and WanFang databases to search for randomized controlled trials (RCTs) published from their inception on January 15, 2024. We carried out a frequentist NMA to compare the efficacy of various eHealth interventions. The quality of the literature was assessed using the risk of bias tool from the Cochrane Handbook (version 2.0), and extracted data were analyzed using Stata16.0 (StataCorp LLC) and RevMan5.4 software (Cochrane Collaboration). The certainty of evidence was evaluated using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) approach. RESULTS: A total of 21 RCTs involving 3904 patients were enrolled. The NMA revealed that combined interventions (standardized mean difference [SMD] 0.89, 95% CI 0.22-1.57), telephone support (SMD 0.68, 95% CI 0.02-1.33), telemonitoring interventions (SMD 0.70, 95% CI 0.02-1.39), and mobile phone app interventions (SMD 0.65, 95% CI 0.01-1.30) were statistically superior to usual care. However, SMS compared to usual care showed no statistical difference. Notably, the combined intervention, with a surface under the cumulative ranking curve of 79.3%, appeared to be the most effective option for patients with CVDs. Regarding systolic blood pressure and diastolic blood pressure outcomes, the combined intervention also had the highest probability of being the best intervention. CONCLUSIONS: The research indicates that the combined intervention (SMS text messaging and telephone support) has the greatest likelihood of being the most effective eHealth intervention to improve medication adherence in patients with CVDs, followed by telemonitoring, telephone support, and app interventions. The results of these network meta-analyses can provide crucial evidence-based support for health care providers to enhance patients' medication adherence. Given the differences in the design and implementation of eHealth interventions, further large-scale, well-designed multicenter trials are needed. TRIAL REGISTRATION: INPLASY 2023120063; https://inplasy.com/inplasy-2023-12-0063/.

Implementing debriefing after cardiac arrest: benefits and challenges.

Healthcare professionals, including nurses, will be involved in the care and management of patients in cardiac arrest. This highly stressful and demanding situation can lead to breakdowns in communication, difficulty in decision-making and emotional distress for members of the healthcare team. Debriefing is a recommended tool that team members can use to acknowledge what went well, what could be improved and areas for learning or development. However, debriefing is often not prioritised due to pressures in clinical practice. This article discusses the benefits of debriefing and outlines some of the approaches and tools that may be used. The author argues that by recognising the importance of debriefing after cardiac arrests in the hospital setting and committing to best practices, nurses can be better prepared for the challenges of resuscitation and improve patient outcomes.

Design and Rationale of the V-Wave Shunt MitraClip Study.

BACKGROUND: Patients heart failure (HF) and moderate-to-severe mitral regurgitation (MR) with residual elevations in left atrial pressure (LAP) following MitraClip may remain symptomatic and suffer subsequent HF readmissions. The V-Wave Interatrial Shunt System is a permanent interatrial septal implant that shunts blood from the left to right atrium and serves to continuously unload the left atrium. Though the V-Wave shunt has previously been studied in HF patients, the safety and feasibility of its deployment at the time of the MitraClip procedure is unknown. STUDY DESIGN: The V-Wave Shunt MitraClip Study (NCT04729933) is an early feasibility study which aims to demonstrate the safety and efficacy of implantation of the V-Wave shunt device at the time of MitraClip procedure. Patients with moderate-to-severe secondary MR with LVEF 20-50% and NYHA functional class III/IV symptoms despite optimal medical therapy, residual mean left atrial pressure ≥ 20 mmHg after MitraClip, and mean left atrial pressure - right atrial pressure difference ≥ 5 mmHg are included. The primary safety endpoint is a composite outcome of all-cause death, stroke, myocardial infarction device embolization, cardiac tamponade, or device-related re-intervention or surgery at 30-days. Patients will be followed out to 5 years. Enrollment is ongoing, with 30-day results expected by the end of 2024. CONCLUSIONS: The V-Wave Shunt Mitraclip study aims to demonstrate the safety and efficacy of the implantation of the V-Wave interatrial shunt device at the time of index MitraClip placement which may serve as an adjunctive method by which continuous left atrial unloading may be achieved.

Social Determinants of Health in Cardio-Oncology: Multi-Level Strategies to Overcome Disparities in Care: JACC: CardioOncology State-of-the-Art Review.

Addressing the need for more equitable cardio-oncology care requires attention to existing disparities in cardio-oncologic disease prevention and outcomes. This is particularly important among those affected by adverse social determinants of health (SDOH). The intricate relationship of SDOH, cancer diagnosis, and outcomes from cardiotoxicities associated with oncologic therapies is influenced by sociopolitical, economic, and cultural factors. Furthermore, mechanisms in cell signaling and epigenetic effects on gene expression link adverse SDOH to cancer and the CVD-related complications of oncologic therapies. To mitigate these disparities, a multifaceted strategy is needed that includes attention to health care access, policy, and community engagement for improved disease screening and management. Interdisciplinary teams must also promote cultural humility and competency and leverage new health technology to foster collaboration in addressing the impact of adverse SDOH in cardio-oncologic outcomes.

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.

Atrial Arrhythmia and Bradycardia as a Presentation of Congenital Long QT Syndrome.

We present a term newborn with atrial arrhythmia on the first day of life (DOL). An echocardiogram showed normal structure and normal function; laboratory testing showed normal electrolytes and thyroid function. After initiation of flecainide, the EKG on DOL 2 showed significant and increasing bradycardia with atrial arrhythmia and extremely prolonged QTc interval. Flecainide was stopped and esmolol started. After 6 h of treatment, atrial tachycardia was suppressed, and the rhythm converted to sinus. Genetic testing found variants of unknown significance in the ALPK3 gene and KCNQ1 gene, which has been associated with long QT syndrome (LQTs). LQTs in infants can present as bradycardia, 2:1 AV block, or torsades de pointes. Our review of the literature found only one other case report of atrial arrhythmia in a newborn with congenital LQTs. Diagnosis of LQTs via EKG alone is difficult in neonates since the ST segment and T wave on the first DOL are usually flattened, making correct measurement of the QTc interval difficult. ß-blockers, the first line of treatment for LQTs, are known to shorten QTc intervals and prevent arrhythmia events. As in our patient, ß-blockers may be helpful for atrial arrhythmia prevention in patients with adrenergically mediated atrial tachycardia. In conclusion, atrial arrhythmia with bradycardia can be a presentation of congenital LQTs and be difficult to recognize. For neonates with this presentation with no evidence of myocarditis, congenital heart disease, or significant respiratory illness, genetic congenital LQTs should be highly suspected, especially when associated with low resting heart rates.

Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.

Research advances over the past 30 years have confirmed a critical role for genetics in the etiology of dilated cardiomyopathies (DCMs). However, full knowledge of the genetic architecture of DCM remains incomplete. We identified candidate DCM causal gene, C10orf71, in a large family with 8 patients with DCM by whole-exome sequencing. Four loss-of-function variants of C10orf71 were subsequently identified in an additional group of492 patients with sporadic DCM from 2 independent cohorts. C10orf71 was found to be an intrinsically disordered protein specifically expressed in cardiomyocytes. C10orf71-KO mice had abnormal heart morphogenesis during embryonic development and cardiac dysfunction as adults with altered expression and splicing of contractile cardiac genes. C10orf71-null cardiomyocytes exhibited impaired contractile function with unaffected sarcomere structure. Cardiomyocytes and heart organoids derived from human induced pluripotent stem cells with C10orf71 frameshift variants also had contractile defects with normal electrophysiological activity. A rescue study using a cardiac myosin activator, omecamtiv mecarbil, restored contractile function in C10orf71-KO mice. These data support C10orf71 as a causal gene for DCM by contributing to the contractile function of cardiomyocytes. Mutation-specific pathophysiology may suggest therapeutic targets and more individualized therapy.

Measurement of left ventricular volume with admittance incorporated onto percutaneous ventricular assist device.

Percutaneous ventricular assist devices (pVADs) incorporated with admittance electrodes have been validated in animal studies for accurate instantaneous volumetric measurements. Since miniaturization of the pVAD profile is a priority to reduce vascular complications in patients, our study aimed to validate admittance measurements using three electrodes instead of the standard four. Complex admittance was measured between an electrode pair and a pVAD metallic blood-intake tip, both with finite element analysis and on the benchtop. The catheter and electrode arrays were first simulated inside prolate ellipsoid models of the left ventricle (LV) demonstrating current flow throughout all parts of the LV as well as minimal influence of off-center catheter placement in the recorded signal. Admittance measurements were validated in 3D-printed models of healthy and dilated hearts (100-400 mL end-diastolic volumes). Minimal interference between a pVAD motor and the current signal of our admittance system was demonstrated. A modified Wei's equation focused on three electrodes was developed to be compatible with reduced profile pVADs occurring clinically, incorporated with admittance electrodes and wires. The modified equation was compared against Wei's original equation showing improved accuracy of calculated volumes. Reducing electrode footprint can simplify the incorporation of Admittance technology on any pVAD, allowing for instantaneous recognition of native heart recovery and assistance with pVAD weaning.

Atrial Septal Defect (ASD) Repair Unveiling an Unusual Conduction Conundrum: A Wenckebach Case Report.

Atrial septal defects are a common congenital malformation that can lead to an elevated risk for stroke due to the bypass of the lungs by deep vein thrombosis, as well as the expected repercussions of pulmonary hypertension if left untreated. Surgical intervention is definitive; however, recent advancements in treatment options, such as percutaneous intervention, represent a safer and equally effective way to treat this congenital complication. While safer, percutaneous interventions can also lead to adverse events that may force patients to present to the emergency department. Here, we present a unique case of a patient with congenital atrial septal defect status post-percutaneous intervention who developed a new-onset second-degree AV block, Mobitz type 1 Wenckebach rhythm.

Massive inferior wall aneurysm presenting with ventricular tachycardia and refractory cardiomyopathy requiring multiple interventions: A case report.

BACKGROUND: Inferior wall left ventricular aneurysms are rare, they develop after transmural myocardial infarction (MI) and may be associated with poorer prognosis. We present a unique case of a large aneurysm of the inferior wall complicated by ventricular tachycardia (VT) and requiring surgical resection and mitral valve replacement. CASE SUMMARY: A 59-year-old male was admitted for VT one month after he had a delayed presentation for an inferior ST-segment elevation MI and was discovered to have a large true inferior wall aneurysm on echocardiography and confirmed on coronary computed tomography (CT) angiography. Due to the sustained VT, concern for aneurysm expansion, and persistent heart failure symptoms, the patient was referred for surgical resection of the aneurysm with patch repair, mitral valve replacement, and automated implantable cardioverter defibrillator insertion with significant improvement in functional and clinical status. CONCLUSION: Inferior wall aneurysms are rare and require close monitoring to identify electrical or contractile sequelae. Coronary CT angiography can outline anatomic details and guide surgical intervention to ameliorate life-threatening complications and improve performance status.

Case Report: Sustained ventricular arrhythmia in a child supported by a Berlin heart EXCOR ventricular assist device.

Mechanical circulatory support is an established therapy to support failing hearts as a bridge to transplantation. Although tolerated overall, arrhythmias may occur after ventricular assist device implantation and can complicate patient management. We report on an infant with dilated cardiomyopathy who developed ventricular tachycardia followed by recalcitrant ventricular fibrillation, refractory to comprehensive medical therapy post Berlin Heart EXCOR® (BHE) implant.

Real world risk of discontinuing oral anticoagulation after successful catheter ablation for atrial fibrillation.

Background: Many patients with atrial fibrillation (AF) discontinued oral anticoagulation (OAC) therapy after successful catheter ablation. We aimed to determine the real-world risks and consequences of discontinuing OAC use after catheter ablation for AF. Methods: Patients who underwent successful catheter ablation for AF from January 2004 to December 2020 were divided into continued long-term OAC (On-OAC, n = 1062) and discontinued (Off-OAC, n = 1055) groups. The long-term outcomes including thromboembolic events, major bleeding, all-cause mortality and major adverse cardiovascular events (MACE), were compared between the two groups. Results: The CHA2DS2-VASc score was 3.44 ± 1.12. After a mean follow-up of 37.09 months, thromboembolism risk was higher and major bleeding risk was lower in the Off-OAC than in the On-OAC group (Both log-rank P < 0.001). CHA2DS2-VASc score-stratified subgroup analysis showed similar cumulative event rates between the two groups in men and women with scores of 2 and 3 (intermediate risk for stroke), respectively, (P > 0.05), except for a higher major bleeding rate in the On-OAC group (P = 0.002). Patients at high risk for stroke (men and women with scores ≥3 and ≥ 4) had better non-thromboembolic and non-MACE results (Both log-rank P < 0.05). Conclusion: Men with a CHA2DS2-VASc score of 2 and women with a score of 3 had a relatively low incidence of stroke events after successful catheter ablation for AF and may be safe for anticoagulation cessation. Greater benefits from long-term OAC were observed in men with CHA2DS2-VASc score ≥3 and women with score ≥4.

The alternative fairytale: how personal history shapes identity and resilience in medicine.

In "The Alternative Fairytale," I explore my journey as a cardiology registrar/fellow, a path influenced deeply by my early displacement from war-torn Sudan. This piece reflects on the interplay between my professional choices and personal identity amidst the backdrop of a male-dominated field and societal expectations. It examines how my roots in a family that once fled conflict have shaped my approach to medicine-emphasizing community, empathy, and a leadership style that diverges from traditional norms. Through this narrative, I aim to redefine and help others to reflect on what success looks like in cardiology and medicine; advocating for diversity in leadership styles and highlight the importance of personal background in shaping professional paths.