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1.
Circulation ; 2024 May 08.
Article in English | MEDLINE | ID: mdl-38718139

ABSTRACT

AIM: The "2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy" provides recommendations to guide clinicians in the management of patients with hypertrophic cardiomyopathy. METHODS: A comprehensive literature search was conducted from September 14, 2022, to November 22, 2022, encompassing studies, reviews, and other evidence on human subjects that were published in English from PubMed, EMBASE, the Cochrane Library, the Agency for Healthcare Research and Quality, and other selected databases relevant to this guideline. Additional relevant studies, published through May 23, 2023, during the guideline writing process, were also considered by the writing committee and added to the evidence tables, where appropriate. STRUCTURE: Hypertrophic cardiomyopathy remains a common genetic heart disease reported in populations globally. Recommendations from the "2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy" have been updated with new evidence to guide clinicians.

2.
J Am Coll Cardiol ; 2024 May 03.
Article in English | MEDLINE | ID: mdl-38727647

ABSTRACT

AIM: The "2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy" provides recommendations to guide clinicians in the management of patients with hypertrophic cardiomyopathy. METHODS: A comprehensive literature search was conducted from September 14, 2022, to November 22, 2022, encompassing studies, reviews, and other evidence on human subjects that were published in English from PubMed, EMBASE, the Cochrane Library, the Agency for Healthcare Research and Quality, and other selected databases relevant to this guideline. Additional relevant studies, published through May 23, 2023, during the guideline writing process, were also considered by the writing committee and added to the evidence tables, where appropriate. STRUCTURE: Hypertrophic cardiomyopathy remains a common genetic heart disease reported in populations globally. Recommendations from the "2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy" have been updated with new evidence to guide clinicians.

3.
Eur J Pediatr ; 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38558313

ABSTRACT

Pediatric gliomas, consisting of both pediatric low-grade (pLGG) and high-grade gliomas (pHGG), are the most frequently occurring brain tumors in children. Over the last decade, several milestone advancements in treatments have been achieved as a result of stronger understanding of the molecular biology behind these tumors. This review provides an overview of pLGG and pHGG highlighting their clinical presentation, molecular characteristics, and latest advancements in therapeutic treatments.  Conclusion: The increasing understanding of the molecular biology characterizing pediatric low and high grade gliomas has revolutionized treatment options for these patients, especially in pLGG. The implementation of next generation sequencing techniques for these tumors is crucial in obtaining less toxic and more efficacious treatments. What is Known: • Pediatric Gliomas are the most common brain tumour in children. They are responsible for significant morbidity and mortality in this population. What is New: • Over the last two decades, there has been a significant increase in our global understanding of the molecular background of pediatric low and high grade gliomas. • The implementation of next generation sequencing techniques for these tumors is crucial in obtaining less toxic and more efficacious treatments, with the ultimate goal of improving both the survival and the quality of life of these patients.

4.
J Am Coll Cardiol ; 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38599256

ABSTRACT

BACKGROUND: In nonobstructive hypertrophic cardiomyopathy (nHCM), there are no approved medical therapies. Impaired myocardial energetics is a potential cause of symptoms and exercise limitation. Ninerafaxstat, a novel cardiac mitotrope, enhances cardiac energetics. OBJECTIVES: To evaluate the safety and efficacy of ninerafaxstat in nHCM. METHODS: Patients with HCM and left ventricular (LV) outflow gradient <30 mmHg, ejection fraction ≥50% and peak VO2 <80% predicted, were randomized to ninerafaxstat 200 mg BID or placebo (1:1) for 12 weeks. Primary endpoint was safety and tolerability with efficacy outcomes also assessed as secondary endpoints. RESULTS: A total of 67 patients with nHCM were enrolled at 12 centers (57 yrs ± 11.8; 55% women). Serious adverse events occurred in 11.8% (4/34) in the ninerafaxstat group and 6.1% of patients (2/33) in placebo. From baseline to 12 weeks, ninerafaxstat was associated with significantly better ventilatory efficiency (VE/VCO2 slope) compared to placebo with a least square (LS) mean difference between the groups of -2.1 (95% CI, -3.4, -0.6; p=0.006), with no significant difference in pVO2 (p=0.9). KCCQ-CCS was directionally though not significantly improved with ninerafaxstat vs. placebo (LS mean, 3.2 [95% CI, -2.9, 9.2; p=0.2]), though was statistically significant when analyzed post-hoc in the 35 patients with baseline KCCQ-CSS ≤80 (LS mean, 9.4 [95% CI, 0.2, 18.5; p=0.04]). CONCLUSIONS: In symptomatic nHCM, novel drug therapy targeting myocardial energetics was safe and well tolerated and associated with better exercise performance and health status among those most symptomatically limited. The findings support assessing ninerafaxstat in a Phase 3 study.

5.
JAMA Cardiol ; 9(5): 475-479, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38506880

ABSTRACT

Importance: Previous studies of professional basketball athletes have characterized manifestations of athletic remodeling by echocardiography and electrocardiography (ECG) in males and echocardiography in females. There is a paucity of female, basketball-specific ECG data. Objective: To generate reference range ECG data for female professional basketball athletes. Design, Setting, and Participants: This is a cross-sectional study of ECGs performed on female professional basketball athletes. The Women's National Basketball Association mandates annual preseason ECGs and echocardiograms for each athlete and has partnered with Columbia University Irving Medical Center to annually review these studies. Data for this study were collected during preseason ECG and echocardiography cardiac screening between April and May 2022. Data analysis was performed between February and July 2023. Exposure: Athlete ECGs and echocardiograms were sent to Columbia University Irving Medical Center for core lab analysis. Main Outcomes and Measures: Quantitative ECG variables were measured. ECG data were qualitatively analyzed for training-related and abnormal findings using the International Recommendations for Electrocardiographic Interpretation in Athletes. Findings from ECGs were compared with corresponding echocardiographic data. Results: There were a total of 173 athletes (mean [SD] age 26.5 [4.1] years; mean [SD] height, 183.4 [9.1] cm; mean [SD] body surface area, 2.0 [0.2] m2), including 129 Black athletes (74.5%) and 40 White athletes (23.1%). By international criteria, 136 athletes (78.6%) had training-related ECG changes and 8 athletes (4.6%) had abnormal ECG findings. Among athletes with at least 1 training-related ECG finding, left ventricular structural adaptations associated with athletic remodeling were present in 64 athletes (47.1%). Increased relative wall thickness, reflecting concentric left ventricular geometry, was more prevalent in athletes with the repolarization variant demonstrating convex ST elevation combined with T-wave inversions in leads V1 to V4 (6 of 12 athletes [50.0%]) than in athletes with early repolarization (5 of 42 athletes [11.9%]) (odds ratio, 7.40; 95% CI, 1.71-32.09; P = .01). Abnormal ECG findings included T-wave inversions (3 athletes [1.7%]), Q waves (2 athletes [1.2%]), prolonged QTc interval (2 athletes [1.2%]), and frequent premature ventricular contractions (1 athlete [0.6%]). Conclusions and Relevance: This cross-sectional study provides reference ECG data for elite female basketball athletes. International criteria-defined training-related findings were common, whereas abnormal ECG findings were rare in this athlete group. These reference data may assist basketball programs and health care professionals using ECGs in screening for female athletes and may be used as a stimulus for future female-specific ECG inquiries.


Subject(s)
Athletes , Basketball , Echocardiography , Electrocardiography , Humans , Basketball/physiology , Female , Cross-Sectional Studies , Adult , Young Adult , Reference Values
6.
Foot Ankle Orthop ; 9(1): 24730114241231559, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38405386

ABSTRACT

Background: Hindfoot fusion procedures are common for the treatment of end-stage arthritis or deformity. Surgical treatments for these conditions include talonavicular joint (single) arthrodesis, talonavicular and subtalar (double) arthrodesis, or talonavicular, subtalar, and calcaneocuboid (triple) arthrodesis. This study evaluated the complication rate, revision surgery rate, and hardware removal rate for those treated with either single, double, or triple arthrodesis. Methods: A retrospective review was conducted for patients who underwent single (Current Procedural Terminology [CPT] code 28740), double (CPT 28725 and 28740), or triple (CPT 28715) arthrodesis to treat hindfoot arthritis/deformity (International Classification of Diseases, Ninth Revision [ICD-9] code: 734, International Classification of Diseases, Tenth Revision [ICD-10] codes: M76821, M76822, and M76829) from 2005 to 2022 using the South Carolina Revenue and Fiscal Affairs databank. Data collected included demographics, comorbidities, procedure data, and postoperative outcomes within 1 year of principal surgery. Student t test, chi-squared test, and multivariable logistic regression analysis were utilized during data analysis. Results: A total of 433 patients were identified, with 248 undergoing single arthrodesis, 67 undergoing double arthrodesis, and 118 undergoing triple arthrodesis. There was no significant difference between single, double, and triple arthrodesis in the rate of complications, hardware removals, revision surgeries, or 30-day readmission when controlling for confounding variables. However, a decrease in Charlson Comorbidity Index (CCI) was found to be predictive of an increase in the revision surgery rate (OR = 0.46, 95% CI 0.22-0.85, P = .02). Conclusion: We found no difference in the rate of complications, hardware removals, or revision surgeries in those undergoing single, double, or triple arthrodesis. Surprisingly we found that a lower Charlson Comorbidity Index, indicating a healthier patient had a significant relationship with a higher rate of revision surgery. Further study including radiographic indications for surgery or the impact of overall health status on revision surgery rates may further elucidate the other components of this relationship. Level of Evidence: Level III, cohort study.

9.
medRxiv ; 2024 Mar 03.
Article in English | MEDLINE | ID: mdl-38293023

ABSTRACT

Background: Artificial intelligence-enhanced electrocardiography (AI-ECG) can identify hypertrophic cardiomyopathy (HCM) on 12-lead ECGs and offers a novel way to monitor treatment response. While the surgical or percutaneous reduction of the interventricular septum (SRT) represented initial HCM therapies, mavacamten offers an oral alternative. Objective: To evaluate biological response to SRT and mavacamten. Methods: We applied an AI-ECG model for HCM detection to ECG images from patients who underwent SRT across three sites: Yale New Haven Health System (YNHHS), Cleveland Clinic Foundation (CCF), and Atlantic Health System (AHS); and to ECG images from patients receiving mavacamten at YNHHS. Results: A total of 70 patients underwent SRT at YNHHS, 100 at CCF, and 145 at AHS. At YNHHS, there was no significant change in the AI-ECG HCM score before versus after SRT (pre-SRT: median 0.55 [IQR 0.24-0.77] vs post-SRT: 0.59 [0.40-0.75]). The AI-ECG HCM scores also did not improve post SRT at CCF (0.61 [0.32-0.79] vs 0.69 [0.52-0.79]) and AHS (0.52 [0.35-0.69] vs 0.61 [0.49-0.70]). Among 36 YNHHS patients on mavacamten therapy, the median AI-ECG score before starting mavacamten was 0.41 (0.22-0.77), which decreased significantly to 0.28 (0.11-0.50, p <0.001 by Wilcoxon signed-rank test) at the end of a median follow-up period of 237 days. Conclusions: The lack of improvement in AI-based HCM score with SRT, in contrast to a significant decrease with mavacamten, suggests the potential role of AI-ECG for serial monitoring of pathophysiological improvement in HCM at the point-of-care using ECG images.

10.
Card Electrophysiol Clin ; 16(1): 107-115, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38280810

ABSTRACT

Myocarditis is an inflammatory disease of the myocardium secondary to infectious and noninfectious insults. The most feared consequence of myocarditis is sudden cardiac death owing to electrical instability and arrhythmia. Typical presenting symptoms include chest pain, dyspnea, palpitations and/or heart failure. Diagnosis is usually made with history, electrocardiogram, biomarkers, echocardiogram, and cardiac MRI (CMR). Application of the Lake Louise criteria to CMR results can help identify cases of myocarditis. Treatment is usually supportive with medical therapy, and patients are recommended to abstain from exercise for 3 to 6 months. Exercise restrictions may be lifted after normalization on follow-up testing.


Subject(s)
Myocarditis , Humans , Myocarditis/diagnosis , Myocarditis/therapy , Return to Sport , Myocardium , Magnetic Resonance Imaging/methods , Biomarkers
11.
Nat Commun ; 15(1): 379, 2024 Jan 09.
Article in English | MEDLINE | ID: mdl-38191574

ABSTRACT

In Apicomplexa, rhoptry discharge is essential for invasion and involves an apical vesicle (AV) docking one or two rhoptries to a macromolecular secretory apparatus. Toxoplasma gondii is armed with 10-12 rhoptries and 5-6 microtubule-associated vesicles (MVs) presumably for iterative rhoptry discharge. Here, we have addressed the localization and functional significance of two intraconoidal microtubule (ICMT)-associated proteins instrumental for invasion. Mechanistically, depletion of ICMAP2 leads to a dissociation of the ICMTs, their detachment from the conoid and dispersion of MVs and rhoptries. ICMAP3 exists in two isoforms that contribute to the control of the ICMTs length and the docking of the two rhoptries at the AV, respectively. This study illuminates the central role ICMTs play in scaffolding the discharge of multiple rhoptries. This process is instrumental for virulence in the mouse model of infection and in addition promotes sterile protection against T. gondii via the release of key effectors inducing immunity.


Subject(s)
Toxoplasma , Animals , Mice , Microtubule-Associated Proteins , Cytoskeleton , Microtubules , Biological Transport
13.
J Nutr ; 154(4): 1356-1367, 2024 Apr.
Article in English | MEDLINE | ID: mdl-37984744

ABSTRACT

BACKGROUND: Beginning in 1977, the U.S. Government began formally issuing dietary advice, a main objective of which was to reduce and prevent the prevalence of obesity in the American population. Concurrently, the Harvard School of Public Health began conducting dietary intake surveys and collecting body mass index (BMI) (kg/m2) data on female nurses in the Nurses' Health Study I (NHSI) and II (NHSII). OBJECTIVES: We aimed to assess whether compliance with the nutrition guidance from the U.S. Government to restrict dietary intake regarding total fat, saturated fat, and cholesterol was meaningfully associated with the prevalence of obesity. METHODS: We analyzed nutrition survey data from 1980 to 2011, grouping the sample into "compliers," those who complied with guidance on the intake of total fat, saturated fat, and cholesterol, and "noncompliers," those who did not. We then compared the means, medians, and distributions of BMI for compliers and noncompliers over the period for both the full survey population and an age-controlled sample. Finally, we plotted raw NHS data to examine respondents' Fat Proportion intake of energy and concurrent BMI. RESULTS: The mean and median BMI for both compliers and noncompliers increased throughout the sample period, and the BMI distributions shifted toward obese and severely obese overall and for an age-controlled subset compared with the 1980 NHSI and 1990 NHSII baselines. Compliers had slightly lower mean BMI increases than noncompliers but saw a relatively higher increase in the growth of the prevalence of those with BMI >30. We also found no linear relationship between Fat Proportion of energy intake and concurrent BMI. CONCLUSIONS: Guidance from the U.S. Government to limit fat, saturated fat, and cholesterol consumption was widely adopted by American female nurses during the study period. Our results show that compliance with this guidance had little if any effect in mitigating population-wide BMI increases during our study period.


Subject(s)
Nurses , Obesity , Humans , Female , United States/epidemiology , Obesity/epidemiology , Obesity/prevention & control , Nutritional Status , Body Mass Index , Energy Intake , Nutrition Surveys , Cholesterol , Fatty Acids , Dietary Fats
14.
PLoS One ; 18(12): e0295917, 2023.
Article in English | MEDLINE | ID: mdl-38096327

ABSTRACT

RATIONALE: Children with neurodevelopmental disorders such as attention-deficit hyperactivity disorder (ADHD), autism, developmental language disorder (DLD), intellectual disability (ID), and social (pragmatic) communication disorder (SPCD) experience difficulties with social functioning due to differences in their social, emotional and cognitive skills. Previous systematic reviews have focussed on specific aspects of social functioning rather than broader peer functioning and friendships. OBJECTIVE: To systematically review and methodologically appraise the quality and effectiveness of existing intervention studies that measured friendship outcomes for children with ADHD, autism, DLD, ID, and SPCD. METHOD: Following PRISMA guidelines, we searched five electronic databases: CINAHL, Embase, Eric, PsycINFO, and PubMed. Two independent researchers screened all abstracts and disagreements were discussed with a third researcher to reach consensus. The methodological quality of studies was assessed using the Cochrane Risk of Bias Tool for Randomised Trials. RESULTS: Twelve studies involving 15 interventions were included. Studies included 683 children with a neurodevelopmental disorder and 190 typically-developing children and diagnosed with either autism or ADHD. Within-group meta-analysis showed that the pooled intervention effects for friendship across all interventions were small to moderate (z = 2.761, p = 0.006, g = 0.485). The pooled intervention effect between intervention and comparison groups was not significant (z = 1.206, p = 0.400, g = 0.215). CONCLUSION: Findings provide evidence that some individual interventions are effective in improving social functioning and fostering more meaningful friendships between children with neurodevelopmental disorders and their peers. Effective interventions involved educators, targeted child characteristics known to moderate peer functioning, actively involved peers, and incorporated techniques to facilitate positive peer perceptions and strategies to support peers. Future research should evaluate the effectiveness of friendship interventions for children with DLD, ID and SPCD, more comprehensively assess peer functioning, include child self-report measures of friendship, and longitudinally evaluate downstream effects on friendship.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Neurodevelopmental Disorders , Child , Humans , Friends , Attention Deficit Disorder with Hyperactivity/therapy , Attention Deficit Disorder with Hyperactivity/psychology , Peer Group , Social Adjustment , Neurodevelopmental Disorders/therapy
15.
J Am Coll Cardiol ; 82(8): 661-670, 2023 08 22.
Article in English | MEDLINE | ID: mdl-37587576

ABSTRACT

BACKGROUND: People diagnosed with genetic heart diseases (GHDs) associated with sudden cardiac death (SCD) have historically been restricted from competitive sports. Recent data documenting return-to-play (RTP) experiences following shared decision making (SDM) suggest that cardiac event rates for athletes with a GHD are lower than previously described, thereby suggesting an opportunity to reconsider this paradigm. OBJECTIVES: The purpose of this study was to evaluate clinical outcomes among National Collegiate Athletic Association Division I university and professional athletes diagnosed with a GHD. METHODS: A multicenter retrospective analysis was performed to examine demographics, clinical characteristics, RTP outcomes, and cardiac events among elite athletes with a GHD. RESULTS: A total of 76 elite (66%, Division I, 34% professional) athletes (age 19.9 ± 5 years, 28% women) diagnosed with a GHD (hypertrophic cardiomyopathy [53%], long QT syndrome, long QT syndrome [26%]) comprise this cohort. Most athletes were asymptomatic (48 of 76, 63%) before diagnosis and had their GHD detected during routine preparticipation cardiovascular screening. Most athletes (55 of 76, 72%) were initially disqualified from their sport but subsequently opted for unrestricted RTP after comprehensive clinical evaluation and SDM. To date, (mean follow-up 7 ± 6 years), only 1 exercise-related (1.3%) and 2 nonexercise-related GHD-associated adverse cardiac events occurred. There have been no fatalities during follow-up. CONCLUSIONS: This is the first study describing the experience of athletes with a known SCD-predisposing GHD who are competing at the elite level. After careful evaluation, risk stratification, and tailoring of their GHD therapy, RTP following SDM appears associated with low, nonfatal events rates at elite levels of sport.


Subject(s)
Heart Diseases , Long QT Syndrome , Female , Humans , Adolescent , Young Adult , Adult , Male , Retrospective Studies , Return to Sport , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Athletes
16.
Clin Cardiol ; 46(9): 1090-1096, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37573574

ABSTRACT

BACKGROUND: Studies on the longitudinal effects of intense physical training on cardiac remodeling are limited, especially in American collegiate football players. HYPOTHESIS: College-level American football training will result in remodeling in a pattern consistent of a sport with moderate static and dynamic demands with increases in both wall and chamber sizes. METHODS: We studied 85 American collegiate football players who underwent transthoracic echocardiogram (TTE) for asymptomatic or mild COVID-19-related illness and compared the changes in echo dimensions to their preparticipation screening TTE. Pre- and posttraining variables were compared using a paired t-test for normally distributed variables. RESULTS: Mean age was 19 years ± 1 and 61% of athletes were Black. Mean follow-up between TTEs was 21 ± 13 months. There was an increase in left atrial volume index (26.4 ± 5.5 to 32.8 ± 8.4 mL/m2 , p < .001), LV end diastolic diameter (5.13 ± 0.4 to 5.27 ± 0.4 cm, p = .003), basal RV diameter (3.28 ± 0.7 to 3.83 ± 0.5 cm, p = <.001), LV mass index (86.7 ± 15.3 to 90.1 ± 15.3, p = .015), and aortic root diameter (3.1 ± 0.4 to 3.2 ± 0.3 cm, p = .03) from pre- to posttraining, with a slightly greater magnitude in athletes with >2 years of training. Presence of left atrial enlargement (≥35 mL/m2 ) increased from 2.9% to 29% pre- to postparticipation in athletes with >2 years training. No significant changes in wall thickness, diastolic function, or right ventricular systolic function were observed. CONCLUSION: American football players college-level training was associated with increases in left and right ventricular chamber sizes, left atrial size, and aortic root diameter.


Subject(s)
Atrial Fibrillation , COVID-19 , Football , Humans , Young Adult , Adult , Ventricular Remodeling , Echocardiography/methods , Heart Atria/diagnostic imaging
17.
Nat Commun ; 14(1): 4800, 2023 08 09.
Article in English | MEDLINE | ID: mdl-37558667

ABSTRACT

The phylum Apicomplexa comprises important eukaryotic parasites that invade host tissues and cells using a unique mechanism of gliding motility. Gliding is powered by actomyosin motors that translocate host-attached surface adhesins along the parasite cell body. Actin filaments (F-actin) generated by Formin1 play a central role in this critical parasitic activity. However, their subcellular origin, path and ultrastructural arrangement are poorly understood. Here we used cryo-electron tomography to image motile Cryptosporidium parvum sporozoites and reveal the cellular architecture of F-actin at nanometer-scale resolution. We demonstrate that F-actin nucleates at the apically positioned preconoidal rings and is channeled into the pellicular space between the parasite plasma membrane and the inner membrane complex in a conoid extrusion-dependent manner. Within the pellicular space, filaments on the inner membrane complex surface appear to guide the apico-basal flux of F-actin. F-actin concordantly accumulates at the basal end of the parasite. Finally, analyzing a Formin1-depleted Toxoplasma gondii mutant pinpoints the upper preconoidal ring as the conserved nucleation hub for F-actin in Cryptosporidium and Toxoplasma. Together, we provide an ultrastructural model for the life cycle of F-actin for apicomplexan gliding motility.


Subject(s)
Cryptosporidiosis , Cryptosporidium , Parasites , Toxoplasma , Animals , Humans , Parasites/metabolism , Actins/metabolism , Electron Microscope Tomography , Actin Cytoskeleton/metabolism , Toxoplasma/metabolism , Protozoan Proteins/metabolism
18.
J Am Heart Assoc ; 12(11): e029052, 2023 06 06.
Article in English | MEDLINE | ID: mdl-37259981

ABSTRACT

Background Clinical practice recommendations for participation in sports and exercise among young competitive athletes with cardiovascular conditions at risk for sudden death are based largely on expert consensus with a paucity of prospective outcomes data. Recent guidelines have taken a more permissive approach, using a shared decision-making model. However, the impact and outcomes of this strategy remain unknown. Methods The ORCCA (Outcomes Registry for Cardiac Conditions in Athletes) study is a prospective, multicenter, longitudinal, observational cohort study designed to monitor clinical outcomes in athletes with potentially life-threatening cardiovascular conditions. The study will assess sports eligibility decision-making, exercise habits, psychosocial well-being, and long-term cardiovascular outcomes among young competitive athletes with cardiovascular conditions. Competitive athletes aged 18 to <35 years diagnosed with a confirmed cardiovascular condition or borderline finding with potential increased risk of major adverse cardiovascular events are eligible. Outcomes will be monitored for an initial 5-year follow-up period or until age 35, and metrics of psychosocial well-being and composite adverse cardiovascular events including arrhythmias, sudden cardiac arrest/sudden cardiac death, and evidence of disease progression will be compared among athletes who continue versus discontinue competitive sports participation. Conclusions The ORCCA study aims to assess the process and results of return to sport decision-making and to monitor major adverse cardiovascular events, exercise habits, and the psychosocial well-being among young competitive athletes diagnosed with confirmed cardiovascular conditions or borderline findings with potential increased risk of major adverse cardiovascular events. The results of this work will generate an evidence base to inform future guidelines.


Subject(s)
Heart Diseases , Humans , Prospective Studies , Heart Diseases/diagnosis , Athletes , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Registries
19.
Expert Opin Pharmacother ; 24(12): 1349-1360, 2023.
Article in English | MEDLINE | ID: mdl-37272195

ABSTRACT

INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is one of the most common genetic causes of heart disease. Since the initial description of HCM, there have been minimal strides in management options. Obstructive HCM constitutes a larger subset of patients with increased left ventricular outflow tract gradients causing symptoms. Septal reduction therapy (SRT) has been successful, but it is not the answer for all patients and is not disease modifying. AREAS COVERED: Current guideline recommendations include beta-blockers, calcium channel blockers, or disopyramides for medical management, but there lacks evidence of much benefit with these drugs. In recent years, there has been the emergence of cardiac myosin inhibitors (CMI) which have demonstrated positive results in patients with both obstructive and non-obstructive HCM. In addition to CMIs, other drugs have been investigated as we have learned more about HCM's pathological mechanisms. Drugs targeting sodium channels and myocardial energetics, as well as repurposed drugs that have demonstrated positive remodeling are being investigated as potential therapeutic targets. Gene therapy is being explored with vast potential for the treatment of HCM. EXPERT OPINION: The armamentarium of therapeutic options for HCM is continuously increasing with the emergence of CMIs as mainstays of treatment. The future of HCM treatment is promising.


Subject(s)
Cardiomyopathy, Hypertrophic , Heart Diseases , Humans , Calcium Channel Blockers/therapeutic use , Adrenergic beta-Antagonists/therapeutic use , Cardiomyopathy, Hypertrophic/drug therapy , Cardiomyopathy, Hypertrophic/genetics , Heart Diseases/drug therapy
20.
Front Cardiovasc Med ; 10: 1155861, 2023.
Article in English | MEDLINE | ID: mdl-37332590

ABSTRACT

Many children and adolescents with congenital and acquired heart disease (CHD) are physically inactive and participate in an insufficient amount of moderate-to-vigorous intensity exercise. Although physical activity (PA) and exercise interventions are effective at improving short- and long-term physiological and psychosocial outcomes in youth with CHD, several barriers including resource limitations, financial costs, and knowledge inhibit widespread implementation and dissemination of these beneficial programs. New and developing eHealth, mHealth, and remote monitoring technologies offer a potentially transformative and cost-effective solution to increase access to PA and exercise programs for youth with CHD, yet little has been written on this topic. In this review, a cardiac exercise therapeutics (CET) model is presented as a systematic approach to PA and exercise, with assessment and testing guiding three sequential PA and exercise intervention approaches of progressive intensity and resource requirements: (1) PA and exercise promotion within a clinical setting; (2) unsupervised exercise prescription; and (3) medically supervised fitness training intervention (i.e., cardiac rehabilitation). Using the CET model, the goal of this review is to summarize the current evidence describing the application of novel technologies within CET in populations of children and adolescents with CHD and introduce potential future applications of these technologies with an emphasis on improving equity and access to patients in low-resource settings and underserved communities.

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