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1.
Heart Rhythm ; 2024 Apr 07.
Article in English | MEDLINE | ID: mdl-38588993

ABSTRACT

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) may cause sudden cardiac death (SCD) despite medical therapy. Therefore, implantable cardioverter-defibrillators (ICDs) are commonly advised. However, there are limited data on the outcomes of ICD use in children. OBJECTIVE: The purpose of this study was to compare the risk of arrhythmic events in pediatric patients with CPVT with and without ICD. METHODS: We compared the risk of SCD in patients with RYR2 (ryanodine receptor 2) variants and phenotype-positive symptomatic patients with CPVT with and without ICD who were younger than 19 years and had no history of sudden cardiac arrest at phenotype diagnosis. The primary outcome was SCD; secondary outcomes were composite end points of SCD, sudden cardiac arrest, or appropriate ICD shocks with or without arrhythmic syncope. RESULTS: The study included 235 patients, 73 with ICD (31.1%) and 162 without ICD (68.9%). Over a median follow-up of 8.0 years (interquartile range 4.3-13.4 years), SCD occurred in 7 patients (3.0%), of whom 4 (57.1%) were noncompliant with medications and none had an ICD. Patients with ICD had a higher risk of both secondary composite outcomes (without syncope: hazard ratio 5.85; 95% confidence interval 3.40-10.09; P < .0001; with syncope: hazard ratio 2.55; 95% confidence interval 1.50-4.34; P = .0005). Thirty-one patients with ICD (42.5%) experienced appropriate shocks, 18 (24.7%) inappropriate shocks, and 21 (28.8%) device-related complications. CONCLUSION: SCD events occurred only in the no ICD group and in those not on optimal medical therapy. Patients with ICD had a high risk of appropriate and inappropriate shocks, which may be reduced with appropriate device programming. Severe ICD complications were common, and risks vs benefits of ICDs need to be considered.

2.
J Innov Card Rhythm Manag ; 14(12): 5682-5688, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38155723

ABSTRACT

Slow pathway modification via cryoablation is a common treatment of atrioventricular nodal re-entrant tachycardia (AVNRT) in pediatric patients. Sinus propagation mapping (SPM) is a tool that has been used to augment identification of the AVNRT slow pathway. We hypothesize that the use of SPM will decrease the total number of ablations performed and decrease the number of ablations until the slow pathway is successfully modified without a significant increase in procedure time. We conducted a retrospective review of patients who underwent cryoablation for AVNRT from August 2016 through March 2021. We excluded patients >21 years of age, those who underwent radiofrequency ablation; those with prior AVNRT ablation, additional pathways, or arrhythmias; and those with congenital heart disease. Out of 122 patients identified by the IMPACT database query, 103 met the inclusion criteria. Fifty-two patients (50.5%) had SPM completed during their procedures. The median number of ablations needed until successful slow pathway modification was two ablations in patients who underwent SPM and four ablations in the non-SPM group (P = .03). There was no significant difference in the total number of ablations between groups. The median total procedural time was longer in the SPM group (152 vs. 125 min; P = .01). SPM can be utilized to further improve the successful treatment of AVNRT with cryotherapy by lowering the number of ablations needed until successful slow pathway modification. However, the technique requires some additional time to collect sufficient data points to create the sinus map.

3.
Open Heart ; 10(2)2023 Nov.
Article in English | MEDLINE | ID: mdl-37945282

ABSTRACT

OBJECTIVES: The advent of conversational artificial intelligence (AI) systems employing large language models such as ChatGPT has sparked public, professional and academic debates on the capabilities of such technologies. This mixed-methods study sets out to review and systematically explore the capabilities of ChatGPT to adequately provide health advice to patients when prompted regarding four topics from the field of cardiovascular diseases. METHODS: As of 30 May 2023, 528 items on PubMed contained the term ChatGPT in their title and/or abstract, with 258 being classified as journal articles and included in our thematic state-of-the-art review. For the experimental part, we systematically developed and assessed 123 prompts across the four topics based on three classes of users and two languages. Medical and communications experts scored ChatGPT's responses according to the 4Cs of language model evaluation proposed in this article: correct, concise, comprehensive and comprehensible. RESULTS: The articles reviewed were fairly evenly distributed across discussing how ChatGPT could be used for medical publishing, in clinical practice and for education of medical personnel and/or patients. Quantitatively and qualitatively assessing the capability of ChatGPT on the 123 prompts demonstrated that, while the responses generally received above-average scores, they occupy a spectrum from the concise and correct via the absurd to what only can be described as hazardously incorrect and incomplete. Prompts formulated at higher levels of health literacy generally yielded higher-quality answers. Counterintuitively, responses in a lower-resource language were often of higher quality. CONCLUSIONS: The results emphasise the relationship between prompt and response quality and hint at potentially concerning futures in personalised medicine. The widespread use of large language models for health advice might amplify existing health inequalities and will increase the pressure on healthcare systems by providing easy access to many seemingly likely differential diagnoses and recommendations for seeing a doctor for even harmless ailments.


Subject(s)
Artificial Intelligence , Cardiovascular Diseases , Humans , Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/therapy , Heart , Patients , Referral and Consultation
4.
Perfusion ; : 2676591231210452, 2023 Oct 24.
Article in English | MEDLINE | ID: mdl-37876222

ABSTRACT

INTRODUCTION: English yew is an evergreen conifer frequently planted in household gardens and, when ingested in large doses, results in severe cardiotoxicity characterized by difficult to control ventricular arrhythmias with high rates of mortality. CASE REPORT: A previously healthy teenage female presented as an out-of-hospital cardiac arrest with refractory ventricular arrhythmias and severe biventricular dysfunction. Due to rapid deterioration in her clinical status, she was cannulated onto venoarterial extracorporeal membrane oxygenation (ECMO) which resulted in rapid normalization of her rhythm and ventricular function. DISCUSSION: Our case highlights the importance of keeping a broad differential diagnosis when considering etiologies of ventricular arrhythmias in the pediatric population. The final diagnosis was not made until after discharge and implantable cardiac defibrillator (ICD) placement. CONCLUSION: The delayed diagnosis of this intentional English yew ingestion ultimately resulted subsequent ICD removal. Early ECMO activation in cases of English yew toxicity can be essential for patient survival.

5.
Pediatr Cardiol ; 44(8): 1741-1745, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37620579

ABSTRACT

Atrial arrhythmias are a common late manifestation after Fontan palliation and are known to contribute to significant morbidity and mortality. Atrial volume by cardiac magnetic resonance imaging has been increasingly used in patients with congenital heart disease with no reports in those with Fontan palliation. In acquired heart disease, left atrial volume has been shown to be a strong predictor of outcomes of sustained atrial arrhythmias, including recurrence of atrial fibrillation. We hypothesized that combined atrial volume (CAV) in patients with total cavopulmonary connection (TCPC) Fontan palliation may be associated with increased risk of significant atrial arrhythmias (SAA). This is a single center retrospective case-control study. Cases were defined as patients with TCPC Fontan palliation ≥ 18 years of age, with SAA requiring intervention. Only those with advanced imaging for 3D rendering between 2013 and 2022 were included. CAV was analyzed from a 3-dimensional (3D) data set, including both the left and right atria, excluding the Fontan baffle. Seventeen TCPC Fontan case patients and 17 control patients were included. There was no difference in age between the two groups. There was no difference between gender, type of Fontan palliation, atrio-ventricular valve regurgitation, or combined ventricular function between the two groups. CAV was higher in SAA group compared to controls, and all control patients had indexed CAV ≤ 80 mL/kg. This is the first data suggesting CAV is associated with SAA in TCPC Fontan patients. Indexed CAV ≥ 80 mL/kg may be a valuable marker for SAA risk.


Subject(s)
Atrial Fibrillation , Fontan Procedure , Heart Defects, Congenital , Humans , Atrial Fibrillation/etiology , Retrospective Studies , Case-Control Studies , Fontan Procedure/methods , Heart Atria , Treatment Outcome
6.
Am J Cardiol ; 204: 14-21, 2023 10 01.
Article in English | MEDLINE | ID: mdl-37536198

ABSTRACT

Patients with repaired tetralogy of Fallot are at elevated risk for ventricular arrhythmia and sudden cardiac death. Over the past decade, the pathogenesis and natural history of ventricular tachycardia has become increasingly understood, and catheter ablation has emerged as an effective treatment modality. Concurrently, there has been great progress in the development of a versatile array of transcatheter valves that can be placed in the native right ventricular outflow tract for the treatment of long-standing pulmonary regurgitation. Although such valve platforms may eliminate the need for repeat cardiac operations, they may also impede catheter access to the myocardial substrates responsible for sustained macro-reentrant ventricular tachycardia. This manuscript provides the rationale and design of a recently devised multicenter study that will examine the clinical outcomes of a uniform, preemptive strategy to eliminate ventricular tachycardia substrates before transcatheter pulmonary valve implantation in patients with tetralogy of Fallot.


Subject(s)
Catheter Ablation , Heart Valve Prosthesis Implantation , Pulmonary Valve Insufficiency , Pulmonary Valve , Tachycardia, Ventricular , Tetralogy of Fallot , Humans , Tetralogy of Fallot/complications , Tetralogy of Fallot/surgery , Pulmonary Valve/surgery , Arrhythmias, Cardiac , Pulmonary Valve Insufficiency/surgery , Treatment Outcome , Catheter Ablation/adverse effects , Heart Valve Prosthesis Implantation/adverse effects
7.
Cardiol Ther ; 12(3): 473-487, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37495769

ABSTRACT

Single ventricle physiology is a rare form of congenital heart disease and was, historically, a uniformly lethal condition. However, the atriopulmonary Fontan operation, and its successive iterations, the lateral tunnel and extracardiac conduit Fontan, became the fundamental approach to treating single ventricle heart disease. Over time, dysrhythmias are some of the most common complications with Fontan physiology, compounding morbidity and mortality. Atrial arrhythmias are prevalent in the Fontan population and occur in about 15-60% of patients with Fontan palliation, increasingly with age. Diagnosing atrial arrhythmias in patients with Fontan palliation may be challenging because of low voltage amplitudes arising from myopathic atrial tissue making it difficult to clearly assess atrial depolarization on surface electrocardiograms (ECG), vague symptoms not suggestive of tachyarrhythmia, or atrial arrhythmia with ventricular rates below 100 beats per minute. Intra-atrial reentrant tachycardia (IART) is the most common type of supraventricular tachycardia in adults with Fontan palliation. Acute management of atrial arrhythmias in patients with Fontan palliation involves prompt assessment of a patient's hemodynamic stability, anticoagulation and thrombosis risk, systemic ventricular function, and risk of sedation or anesthesia if needed. Long-term management of atrial arrhythmias is often multifactorial and may include long-term anti-arrhythmic therapy, permanent pacing, and ablation. The best approach for the management of atrial arrhythmias in adults with Fontan palliation is patient-specific and involves collaboration between congenital electrophysiologists, adult congenital cardiologists, and the patient.

8.
Soc Sci Med ; 331: 116081, 2023 08.
Article in English | MEDLINE | ID: mdl-37441974

ABSTRACT

Since its introduction in 1960, the combined oral contraceptive pill has become the dominant reversible contraceptive technology for controlling female fertility in spite of early and ongoing ethical, critical medical, and societal disapproval. Over the last decade, prescription rates among young women in Western Europe have declined alongside the rise of social media use. This article investigates the mechanisms underlying this change in contraceptive choices and the role played by social media in this trend. Via exploratory online observation and an in-depth interview study with 19 informants in Germany and Denmark, we find social media consolidates the social construction of hazards associated with the contraceptive pill by reshaping young women's risk perception from questions around drug reliability and safety to those of individual physical, mental, and social well-being. We shed light on how social media contributes to the delegitimation of health professionals such as gynaecologists and general practitioners and adds to wider debates on the erosion of medical authority and the attendant rise of peer influencers. We condense our findings into a framework for health-related attitude formation and decision-making in the social media age, which elucidates how social media amplifies and reshapes societal discourses regarding health-related technologies, choices, and risks.


Subject(s)
Social Media , Female , Humans , Reproducibility of Results , Contraceptive Agents , Europe , Attitude to Health , Contraception
10.
Pediatr Cardiol ; 44(6): 1226-1231, 2023 Aug.
Article in English | MEDLINE | ID: mdl-36763139

ABSTRACT

Arrhythmias are a major cause of morbidity and mortality in repaired Tetralogy of Fallot (rTOF). However, predicting those at risk for life-threatening ventricular arrhythmias (VA) remains difficult. Many centers approach risk assessment at the time of surgical pulmonary valve intervention. Increasing numbers of patients have undergone transcatheter pulmonary valve replacement (TPVR), yet there are no studies evaluating VA in rTOF undergoing TPVR and the approach to risk assessment for these patients. A single center retrospective study was performed. The institutional interventional database was queried to identify all adults ≥ 18 years of age with rTOF status who underwent TPVR from 2010 to 2019. A total of 81 patients with rTOF underwent TPVR from 2010 to 2019. Mean age at time of TPVR was 27 ± 13 years; follow up after TPVR was 6.4 ± 3.1 years. VA events occurred in 4 patients (5%). There was no significant difference in current era VA risk factors in rTOF patients between the VA event group and the non-VA event group. VA risk in this cohort of rTOF with TPVR was 5%, comparable to that reported in current era surgical cohort with similar follow up. Multi-center agreement on risk assessment protocol is needed for future studies.


Subject(s)
Heart Valve Prosthesis Implantation , Pulmonary Valve Insufficiency , Pulmonary Valve , Tetralogy of Fallot , Adult , Humans , Adolescent , Young Adult , Pulmonary Valve/surgery , Heart Valve Prosthesis Implantation/methods , Retrospective Studies , Cardiac Catheterization/methods , Treatment Outcome , Pulmonary Valve Insufficiency/etiology , Pulmonary Valve Insufficiency/surgery
11.
J Eval Clin Pract ; 29(3): 472-484, 2023 04.
Article in English | MEDLINE | ID: mdl-36464961

ABSTRACT

BACKGROUND: Concepts such as patient-centred care, patient empowerment and patient participation have challenged our understanding of what it means to be a patient and what role patients play in care pathways. Consequently, patientology as the medical sociological and anthropological study of patients is currently being reconceptualized through perspectives of health as individualized and privatized capital. AIMS: This article explores the potential of such a patientological perspective to enhance our understanding of and tailor care pathways. Particularly, we aim to investigate how such a perspective can contribute to tailoring care pathways to the capacities of individual patients and their relatives. MATERIALS & METHODS: We elaborate on an emerging health capital-theoretic model for patientology and study its potential for optimizing care pathways through two distinct cases of care contexts: communicative challenges in the context of integrative primary care for vulnerable chronically ill multi-morbid patients and the potential of parent involvement in the acute hospitalization of children suspected to be affected by multisystem inflammatory syndrome in children. RESULTS: Our results shed light on the importance of cultural and social capital of patients and their relatives in the design of effective tailored care pathways. We find that a lack of cultural and social capital presents a significant barrier to effective communication between patients and the healthcare professionals involved in their care pathways. We also find that understanding the cultural and social capital of relatives provides an entry point to their effective involvement in the care pathways of their children. DISCUSSION & CONCLUSION: The implications of these findings extend beyond the concrete care contexts studied. This article contributes to our understanding of care pathways through a perspective of health inequalities being based on differences in health capital and demonstrates how the health capital-theoretic patientology model facilitates the systematic development of guidelines for healthcare professionals to assess patients' resources and tailor their care pathways accordingly.


Subject(s)
Critical Pathways , Social Capital , Child , Humans , Communication , Patient Participation , Health Personnel
12.
J Am Heart Assoc ; 11(22): e025121, 2022 11 15.
Article in English | MEDLINE | ID: mdl-36346046

ABSTRACT

Background The objective of this international multicenter study was to investigate both early and late outcomes of cardiac resynchronization therapy (CRT) in patients with a systemic right ventricle (SRV) and to identify predictors for congestive heart failure readmissions and mortality. Methods and Results This retrospective international multicenter study included 13 centers. The study population comprised 80 adult patients with SRV (48.9% women) with a mean age of 45±14 (range, 18-77) years at initiation of CRT. Median follow-up time was 4.1 (25th-75th percentile, 1.3-8.3) years. Underlying congenital heart disease consisted of congenitally corrected transposition of the great arteries and dextro-transposition of the great arteries in 63 (78.8%) and 17 (21.3%) patients, respectively. CRT resulted in significant improvement in functional class (before CRT: III, 25th-75th percentile, II-III; after CRT: II, 25th-75th percentile, II-III; P=0.005) and QRS duration (before CRT: 176±27; after CRT: 150±24 milliseconds; P=0.003) in patients with pre-CRT ventricular pacing who underwent an upgrade to a CRT device (n=49). These improvements persisted during long-term follow-up with a marginal but significant increase in SRV function (before CRT; 30%, 25th-75th percentile, 25-35; after CRT: 31%, 25th-75th percentile, 21-38; P=0.049). In contrast, no beneficial change in the above-mentioned variables was observed in patients who underwent de novo CRT (n=31). A quarter of all patients were readmitted for heart failure during follow-up, and mortality at latest follow-up was 21.3%. Conclusions This international experience with CRT in patients with an SRV demonstrated that CRT in selected patients with SRV dysfunction and pacing-induced dyssynchrony yielded consistent improvement in QRS duration and New York Heart Association functional status, with a marginal increase in SRV function.


Subject(s)
Cardiac Resynchronization Therapy , Heart Failure , Transposition of Great Vessels , Humans , Adult , Female , Middle Aged , Male , Cardiac Resynchronization Therapy/adverse effects , Cardiac Resynchronization Therapy/methods , Heart Ventricles , Retrospective Studies , Treatment Outcome , Heart Failure/diagnosis , Heart Failure/therapy
13.
Tex Heart Inst J ; 49(5)2022 09 01.
Article in English | MEDLINE | ID: mdl-36269883

ABSTRACT

BACKGROUND: Ablation of atrial tachyarrhythmia in adults with congenital heart disease (ACHD) is challenging because of complex anatomy and high scar burden. We proposed that the addition of high-density mapping with the PentaRay® (Biosense Webster, Inc) mapping catheter (EAM+P) to 3-dimensional electroanatomic mapping (EAM) allows for rapid acquisition of high-resolution maps and shorter procedure times. METHODS: In this single-center, retrospective cohort study of patients with ACHD who underwent atrial arrhythmia ablation, patients were divided those who underwent ablation with EAM and those who underwent ablation with EAM+P. RESULTS: Fifteen ablations were performed in 13 patients using standard EAM, and 11 ablations were performed in 10 patients using EAM+P. There was no difference in mean age or complexity of congenital heart disease. The procedure duration was 1.5 times longer in the EAM than in the EAM+P group (P = .015). The dose area product was 12 times higher in the EAM than in the EAM+P group (P = .001). A higher number of venous access sites were used for EAM cases than for EAM+P cases (P = .008). Acute success rates of ablation and recurrence rates at 1 year were similar in the 2 groups. There were no procedure-related complications in either group. CONCLUSION: This is the first study to evaluate the use of the PentaRay® high-density mapping catheter for ablation of atrial tachyarrhythmia in patients with ACHD. The use of the PentaRay® high-density mapping catheter results in shorter procedure time, decreased radiation exposure, and fewer venous access sites.


Subject(s)
Atrial Fibrillation , Catheter Ablation , Heart Defects, Congenital , Adult , Humans , Retrospective Studies , Treatment Outcome , Catheter Ablation/adverse effects , Catheter Ablation/methods , Tachycardia , Heart Defects, Congenital/complications , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/surgery , Arrhythmias, Cardiac/diagnosis , Arrhythmias, Cardiac/etiology , Arrhythmias, Cardiac/surgery , Catheters , Atrial Fibrillation/surgery
14.
J Cardiovasc Electrophysiol ; 33(9): 2111-2115, 2022 09.
Article in English | MEDLINE | ID: mdl-35842796

ABSTRACT

INTRODUCTION: Leadless cardiac pacing has not been widely utilized in pediatric patients, in part due to concerns regarding size of the delivery sheath and the potential for vascular injury. METHODS: We present a case of leadless pacemaker implantation via internal jugular vein without a surgical cutdown. RESULTS: A leadless pacemaker was successfully implanted in the right ventricle via internal jugular approach in a pediatric patient with congenital heart disease. CONCLUSION: This is a novel approach to leadless pacemaker implantation that could broaden the utilization of this technology to the vulnerable population of children, especially those with congenital heart disease.


Subject(s)
Pacemaker, Artificial , Child , Heart Ventricles , Humans , Prostheses and Implants
15.
SSM Qual Res Health ; 2: 100116, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35721031

ABSTRACT

Vaccination of the world population is being embraced by 184 countries as the main strategy to end the COVID-19 pandemic; vaccination rates are stalling even in countries with high vaccine availability, though. This article investigates the phenomenon of vaccine hesitancy in two such countries, the Kingdom of Denmark and the Russian Federation, through a qualitative study of the different types of hesitancy to COVID-19 vaccination programs and their underlying mechanisms. The analysis reveals a typology along the dimensions of agency and health capital: resisting hesitancy based on mistrust of authority, paralyzed hesitancy based on personal fear, informed hesitancy based on informed choice, and empowered hesitancy based on empowered choice. While the mechanisms underlying vaccine hesitancy are to a great extent comparable between the two countries, differences in population size, societal cohesion, and political culture seem to impact the prevalence and severity of types and, thereby, the outcomes of national COVID-19 vaccination programs and national campaigns for mitigating COVID-19 vaccine hesitancy. The implications of these findings extend beyond the particular context of COVID-19 and the countries studied, supporting and nuancing existing models for vaccine hesitancy, as well as providing a starting point for tailored campaigns for mitigating vaccine hesitancy.

16.
Can J Cardiol ; 38(7): 1036-1047, 2022 07.
Article in English | MEDLINE | ID: mdl-35240252

ABSTRACT

Atrial arrhythmias are highly prevalent in the aging Fontan population and contribute importantly to morbidity and mortality. Although the most common arrhythmia is scar-based intra-atrial re-entrant tachycardia, various other arrhythmias may occur, including focal atrial tachycardia, atrioventricular node-dependent tachycardias, and atrial fibrillation. The type and prevalence of atrial arrhythmia is determined, in part, by the underlying congenital defect and variant of Fontan surgery. Although the cumulative incidence of atrial tachyarrhythmias has decreased substantially from the atriopulmonary anastomosis to the more recent total cavopulmonary-connection Fontan, the burden of atrial arrhythmias remains substantial. Management is often multifaceted and can include anticoagulation, anti-arrhythmic drug therapy, pacing, and cardioversion. Catheter ablation plays a key role in control of arrhythmia. Risks and benefits must be carefully weighed. Among the important considerations are the clinical burden of arrhythmia, ventricular function, hemodynamic stability in tachycardia, suspected arrhythmia mechanisms, risks associated with anaesthesia, venous access, approaches to reaching the pulmonary venous atrium, and accompanying comorbidities. Careful review of surgical notes, electrocardiographic tracings, and advanced imaging is paramount, with particular attention to anatomic abnormalities such as venous obstructions and displaced conduction systems. Despite numerous challenges, ablation of atrial arrhythmias is effective in improving clinical status. Nevertheless, onset of new arrhythmias is common during long-term follow-up. Advanced technologies, such as high-density mapping catheters and remote magnetic guided ablation, carry the potential to further improve outcomes. Fontan patients with atrial arrhythmias should be referred to centres with dedicated expertise in congenital heart disease including catheter ablation, anaesthesia support, and advanced imaging.


Subject(s)
Atrial Fibrillation , Catheter Ablation , Fontan Procedure , Heart Defects, Congenital , Tachycardia, Supraventricular , Atrial Fibrillation/complications , Catheter Ablation/methods , Fontan Procedure/adverse effects , Heart Conduction System , Humans , Tachycardia , Tachycardia, Supraventricular/etiology
17.
Neuromuscul Disord ; 32(1): 43-49, 2022 01.
Article in English | MEDLINE | ID: mdl-34955369

ABSTRACT

Dystrophin deficiency results in cardiomyopathy and fibrosis with variable onset. Little is known about electrocardiographic abnormalities in Becker muscular dystrophy and their relationship to underlying cardiac pathology. We hypothesized QRS fragmentation is associated with myocardial fibrosis on cardiac magnetic resonance imaging in Becker muscular dystrophy patients. We retrospectively evaluated 44 patients, and extracted data from clinically obtained electrocardiogram and cardiac magnetic resonance. Ventricular function and presence or absence late gadolinium enhancement representing myocardial fibrosis were recorded from imaging. Nearly half (19/42, 45%) of patients interrogated had myocardial fibrosis on cardiac magnetic resonance. Total number of electrocardiogram leads with QRS fragmentation (median 1 vs 4, p < 0.001) and either right or left axis deviation from median was significantly increased (13.6 vs. 44.8°, p < 0.001) in patients with myocardial fibrosis. Decreased leftward voltage in V6 correlated to both increased fibrosis and decreased cardiac function (p < 0.01). The positive likelihood ratio for underlying myocardial fibrosis in patients with two of the three findings on electrocardiogram was 8.47 (p < 0.0001). QRS fragmentation and axis deviation on electrocardiography are strongly predictive of myocardial fibrosis in Becker muscular dystrophy and may inform the use of advanced imaging in evaluation of these patients.


Subject(s)
Cardiomyopathies/diagnostic imaging , Electrocardiography/methods , Magnetic Resonance Imaging/methods , Muscular Dystrophy, Duchenne/diagnostic imaging , Adolescent , Adult , Child , Contrast Media , Gadolinium , Humans , Magnetic Resonance Imaging, Cine , Male , Retrospective Studies , Ventricular Function, Left , Young Adult
18.
Heart Rhythm ; 19(4): 676-685, 2022 04.
Article in English | MEDLINE | ID: mdl-34958940

ABSTRACT

BACKGROUND: Variation in lamin A/C results in a spectrum of clinical disease, including arrhythmias and cardiomyopathy. Benign variation is rare, and classification of LMNA missense variants via in silico prediction tools results in a high rate of variants of uncertain significance (VUSs). OBJECTIVE: The goal of this study was to use a machine learning (ML) approach for in silico prediction of LMNA pathogenic variation. METHODS: Genetic sequencing was performed on family members with conduction system disease, and patient cell lines were examined for LMNA expression. In silico predictions of conservation and pathogenicity of published LMNA variants were visualized with uniform manifold approximation and projection. K-means clustering was used to identify variant groups with similarly projected scores, allowing the generation of statistically supported risk categories. RESULTS: We discovered a novel LMNA variant (c.408C>A:p.Asp136Glu) segregating with conduction system disease in a multigeneration pedigree, which was reported as a VUS by a commercial testing company. Additional familial analysis and in vitro testing found it to be pathogenic, which prompted the development of an ML algorithm that used in silico predictions of pathogenicity for known LMNA missense variants. This identified 3 clusters of variation, each with a significantly different incidence of known pathogenic variants (38.8%, 15.0%, and 6.1%). Three hundred thirty-nine of 415 head/rod domain variants (81.7%), including p.Asp136Glu, were in clusters with highest proportions of pathogenic variants. CONCLUSION: An unsupervised ML method successfully identified clusters enriched for pathogenic LMNA variants including a novel variant associated with conduction system disease. Our ML method may assist in identifying high-risk VUS when familial testing is unavailable.


Subject(s)
Heart Diseases , Lamin Type A , Machine Learning , Cardiac Conduction System Disease/genetics , Heart Diseases/genetics , Humans , Lamin Type A/genetics , Pedigree
19.
Heart Rhythm ; 18(11): 1825-1832, 2021 11.
Article in English | MEDLINE | ID: mdl-34333088

ABSTRACT

BACKGROUND: Children with catecholaminergic polymorphic ventricular tachycardia (CPVT) are at risk for sudden death, and a risk stratification tool does not exist. OBJECTIVE: The purpose of this study was to determine whether proband status, age at symptom onset, and/or sex are independent predictors of cardiac events. METHODS: A multicenter, ambispective, cohort of pediatric CPVT patients was categorized by sex, proband status, and age at symptom onset (D1: first decade of life [symptom onset <10 years] or D2: second decade of life [symptom onset 10-18 years, inclusive]). Demographics, therapy, genetics, and outcomes were compared between groups. RESULTS: A total of 133 patients were included and stratified into 58 D1 and 75 D2 patients (68 female and 65 male; 106 probands and 27 relatives). Localization of RYR2 variants to hotspots differed based on proband status and age at symptom onset. The cardiac event rate was 33% (n = 44/133), inclusive of a 3% (n = 4/133) mortality rate, over a median of 6 years (interquartile range 3-11) after time of symptom onset. Proband status, rather than age at of symptom onset or sex, was an independent predictor of time to first cardiac event (P = .008; hazard ratio = 4.4). The 5-, 10- and 15-year event-free survival rates for probands were 77%, 56%, and 46%, respectively, and for relatives were 96%, 91%, and 86%, respectively. Event risk after diagnosis was 48% (32/67) in patients on ß-blocker or flecainide alone vs 10% (5/48) in patients on ß-blocker plus flecainide and/or left cardiac sympathetic denervation (P <.001). CONCLUSION: Proband status, but not age at symptom onset or male sex, independently predicted an earlier onset of cardiac events. A larger sample size would enable a comprehensive investigation of other risk factors.


Subject(s)
Tachycardia, Ventricular/epidemiology , Adolescent , Age of Onset , Canada/epidemiology , Child , Female , Humans , Male , Risk Factors , Severity of Illness Index , Sex Factors , Tachycardia, Ventricular/therapy , United States/epidemiology
20.
Soc Sci Med ; 285: 114297, 2021 09.
Article in English | MEDLINE | ID: mdl-34388620

ABSTRACT

This article explores how the integration of digital technology into healthcare processes of social psychiatry impacts the healthcare professional-patient relation. To this end, it adopts a new materialist perspective, viewing the context of social psychiatry as an assemblage of human and technological components and their relations. We draw on a qualitative study of the introduction of an mHealth platform including shared calendars, messaging, and video calls into the care processes of a social psychiatry out-patient setting in Denmark. The study demonstrates how technology acceptance is facilitated by familiarity and relational trust, how the platform streamlines routine care tasks by providing shared structures, and how the platform allows for a multi-channel approach to interactional care. The analysis reveals an emerging type of care interaction, detached co-involvement, which appears to strengthen the healthcare professional-patient relation and concomitantly increase patient autonomy by facilitating temporally and spatially detached albeit more frequent interactions. The implications of these findings extend beyond the context of social psychiatry. First, they demonstrate that the careful integration of digital technology into care processes has the potential to increase the involvement of and even empower mentally vulnerable patients. Second, they demonstrate how adding such technology can extend an assemblage temporally and spatially and, consequently, allow components to remain attached to it while they attach to and detach from other assemblages.


Subject(s)
Outpatients , Telemedicine , Community Psychiatry , Delivery of Health Care , Humans , Professional-Patient Relations
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