Pubblicazioni recenti - hypertrophic cardiomyopathy
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Quahogging in a Marine Habitat: An Extremely Rare Source of an Organism to Cause Endocarditis.
R I Med J (2013)2024 Aug;107(8):46-49.
Gonzalez Jessica M, Parulkar Anshul, Lowenhaar Gabriel, Imran Tasnim F,
Abstract
A 66-year-old man with a history of apical variant hypertrophic cardiomyopathy, heart failure with preserved ejection fraction (HFpEF), severe pulmonary hypertension, and prior Group B streptococcal mitral valve endocarditis four months before, presented with generalized body shakes and urinary incontinence. Computed tomography angiography revealed an acute left M1 occlusion. The patient underwent mechanical thrombectomy. Within 24 hours of presentation, he developed hypotension, tachycardia, and fever. Infectious workup revealed a leukocytosis. One out of two sets of blood cultures revealed bacteremia with Shewanella algae. A transthoracic echocardiogram revealed a large mitral valve vegetation with multiple mobile components portending a high thromboembolic risk, as evidenced by his acute presentation with multiple embolic infarcts. He was diagnosed with infectious endocarditis caused by Shewanella algae, a rare marine environment pathogen. He was treated with ciprofloxacin 750 mg twice daily orally and meropenem 2 g every eight hours intravenously with an initial decrease in the mitral valve vegetation size. He was discharged on ceftriaxone 2g and ciprofloxacin 750mg every 12 hours for a total of six weeks from his first negative blood cultures. He was monitored through transthoracic echocardiography as he continued medical management with levofloxacin 750 mg daily. Six months after his discharge from the hospital he developed worsening heart failure and elected to pursue comfort measures only.
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Dosing and Safety Profile of Aficamten in Symptomatic Obstructive Hypertrophic Cardiomyopathy: Results From SEQUOIA-HCM.
J Am Heart Assoc2024 Jul;():e035993. doi: 10.1161/JAHA.124.035993.
Coats Caroline J, Masri Ahmad, Nassif Michael E, Barriales-Villa Roberto, Arad Michael, Cardim Nuno, Choudhury Lubna, Claggett Brian, Düngen Hans-Dirk, Garcia-Pavia Pablo, Hagège Albert A, Januzzi James L, Lee Matthew M Y, Lewis Gregory D, Ma Chang-Sheng, Maron Martin S, Miao Zi Michael, Michels Michelle, Olivotto Iacopo, Oreziak Artur, Owens Anjali T, Spertus John A, Solomon Scott D, Tfelt-Hansen Jacob, van Sinttruije Marion, Veselka Josef, Watkins Hugh, Jacoby Daniel L, German Polina, Heitner Stephen B, Kupfer Stuart, Lutz Justin D, Malik Fady I, Meng Lisa, Wohltman Amy, Abraham Theodore P, ,
Abstract
BACKGROUND:
Aficamten, a novel cardiac myosin inhibitor, reversibly reduces cardiac hypercontractility in obstructive hypertrophic cardiomyopathy. We present a prespecified analysis of the pharmacokinetics, pharmacodynamics, and safety of aficamten in SEQUOIA-HCM (Safety, Efficacy, and Quantitative Understanding of Obstruction Impact of Aficamten in HCM).
METHODS AND RESULTS:
A total of 282 patients with obstructive hypertrophic cardiomyopathy were randomized 1:1 to daily aficamten (5-20?mg) or placebo between February 1, 2022, and May 15, 2023. Aficamten dosing targeted the lowest effective dose for achieving site-interpreted Valsalva left ventricular outflow tract gradient
CONCLUSIONS:
A site-based dosing algorithm targeting the lowest effective aficamten dose reduced left ventricular outflow tract gradient with a favorable safety profile throughout SEQUOIA-HCM.
REGISTRATION:
URL: https://www.clinicaltrials.gov; Unique Identifier: NCT05186818.
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Midterm Outcomes of Percutaneous Intramyocardial Septal Radiofrequency Ablation for Hypertrophic Cardiomyopathy: A Single-Center, Observational Study.
J Am Heart Assoc2024 Jul;():e034080. doi: 10.1161/JAHA.123.034080.
Xie Xudong, Chen Siyuan, Cui Yawei, Zhou Zhenzhen, Lu Jianhua, Du Zhi, Ding Jie, Xing Kaidi, Zhang Yuesheng, Zhou Yijiang, Li Jun, Guo Xiaogang,
Abstract
BACKGROUND:
Percutaneous intramyocardial septal radiofrequency ablation (PIMSRA) has been reported to be safe and effective at midterm follow-up to treat drug-refractory hypertrophic obstructive cardiomyopathy in a single center. However, data from other centers are lacking. This retrospective cohort study aimed to investigate the efficacy and safety of PIMSRA from another independent center.
METHODS AND RESULTS:
PIMSRA was performed in 76 patients with hypertrophic obstructive cardiomyopathy in our center from April 2020 to June 2023. The primary outcome was the reduction of left ventricular outflow tract gradient after 6?months or more post-PIMSRA. Secondary outcomes were periprocedural major adverse clinical events. Sixty-one patients returned to the hospital for follow-up 6 to 30 (median, 14) months after the procedure. At the last follow-up of the 61 patients, the maximum septal thickness decreased from a median of 23.6 (interquartile range, 20.5-26.4) to 19.1 (interquartile range, 16.0-22.1) mm (
CONCLUSIONS:
PIMSRA allows for the reduction in the left ventricular outflow tract gradient and enhances symptomatic improvement, with a limited incidence of adverse events and complications among patients with hypertrophic obstructive cardiomyopathy.
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Association of Fibrate use with clinical expression of hypertrophic cardiomyopathy.
ESC Heart Fail2024 Jul;():. doi: 10.1002/ehf2.15004.
Park Chan Soon, Kim Bongseong, Jung Jin-Hyung, Rhee Tae-Min, Lee Hyun Jung, Lee Hee-Sun, Park Jun-Bean, Kim Yong-Jin, Han Kyungdo, Kim Hyung-Kwan,
Abstract
AIMS:
An association between obesity, metabolic abnormalities and clinical hypertrophic cardiomyopathy (HCM) expression has been reported. We investigated whether managing dyslipidaemia with fibrates could affect the clinical expression of HCM.
METHODS:
We screened patients who used fibrates between 2010 and 2017 from a nationwide database. After excluding patients with a history of HCM, we identified fibrate-user group (n = 412 823). We then constructed a 1:1 matched cohort of fibrate-naïve participants (n = 412 823). After a 1 year lag period, we identified the incident HCM cases for the following 5 years.
RESULTS:
During a median follow-up period of 3.96 years, we identified 454 incident clinical HCM cases. After adjusting for covariates, fibrate use was associated with a lower risk of clinical HCM expression [hazard ratio (HR) 95% confidence interval (CI): 0.763 (0.630-0.924)]. In subgroup analyses, fibrate use was associated with a reduced risk of clinical HCM expression in patients with a body mass index ?25 kg/m and those with abdominal obesity [HR (95% CI): 0.719 (0.553-0.934) and 0.655 (0.492-0.872)], but not in those without obesity. Fibrate use was also associated with lower risks of incident clinical HCM in patients with triglyceride levels ?150 mg/dL and those with metabolic syndrome [HR (95% CI): 0.741 (0.591-0.929) and 0.750 (0.609-0.923)], but not in their counterparts. Regarding lifestyle behaviours, fibrate use appeared to provide more prognostic benefits in patients who currently smoked, consumed alcohol or did not engage in regular physical activities.
CONCLUSION:
The use of fibrates is associated with a lower incidence of clinical HCM expression. This association was also more prominent in those with obesity, unhealthy metabolic profiles and poor lifestyle behaviours.
© 2024 The Author(s). ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
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Vigorous Exercise in Patients With Congenital Long-QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study.
Circulation2024 Jul;():. doi: 10.1161/CIRCULATIONAHA.123.067590.
Lampert Rachel, Day Sharlene, Ainsworth Barbara, Burg Matthew, Marino Bradley S, Salberg Lisa, Tome Esteban Maria Teresa, Abrams Dominic J, Aziz Peter F, Barth Cheryl, Behr Elijah R, Bell Cheyanne, Berul Charles I, Bos Johan M, Bradley David, Cannom David S, Cannon Bryan C, Concannon Maryann Anandi, Cerrone Marina, Czosek Richard J, Dubin Anne M, Dziura James, Erickson Christopher C, Estes N A Mark, Etheridge Susan P, Goldenberg Ilan, Gray Belinda, Haglund-Turnquist Carla, Harmon Kimberly, James Cynthia A, Johnsrude Christopher, Kannankeril Prince, Lara Alice, Law Ian H, Li Fangyong, Link Mark S, Molossi Silvana M, Olshansky Brian, Noseworthy Peter A, Saarel Elizabeth V, Sanatani Shubhayan, Shah Maully, Simone Laura, Skinner Jonathan, Tomaselli Gordon F, Ware James Simon, Webster Gregory, Zareba Wojciech, Zipes Douglas P, Ackerman Michael J,
Abstract
BACKGROUND:
Whether vigorous exercise increases risk of ventricular arrhythmias for individuals diagnosed and treated for congenital long-QT syndrome (LQTS) remains unknown.
METHODS:
The National Institutes of Health-funded LIVE-LQTS study (Lifestyle and Exercise in Genetic Cardiovascular Conditions) prospectively enrolled individuals 8 to 60 years of age with phenotypic or genotypic LQTS from 37 sites in 5 countries from May 2015 to February 2019. Participants (or parents) answered physical activity and clinical events surveys every 6 months for 3 years with follow-up completed in February 2022. Vigorous exercise was defined as ?6 metabolic equivalents for >60 hours per year. A blinded Clinical Events Committee adjudicated the composite end point of sudden death, sudden cardiac arrest, ventricular arrhythmia treated by an implantable cardioverter defibrillator, and likely arrhythmic syncope. A National Death Index search ascertained vital status for those with incomplete follow-up. A noninferiority hypothesis (boundary of 1.5) between vigorous exercisers and others was tested with multivariable Cox regression analysis.
RESULTS:
Among the 1413 participants (13%
CONCLUSIONS:
Among individuals diagnosed with phenotypic or genotypic LQTS who were risk assessed and treated in experienced centers, LQTS-associated cardiac event rates were low and similar between those exercising vigorously and those not exercising vigorously. Consistent with the low event rate, CIs are wide, and noninferiority was not demonstrated. These data further inform shared decision-making discussions between patient and physician about exercise and competitive sports participation.
REGISTRATION:
URL: https://www.clinicaltrials.gov; Unique identifier: NCT02549664.
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No beneficial use of the wearable cardioverter defibrillator among patients suffering from inherited and congenital heart disease: data from a European multicenter registry.
Front Cardiovasc Med2024 ;11():1384736. doi: 1384736.
Koepsel Katharina, Dreher Tobias C, Blockhaus Christian, Gotzmann Michael, Klein Norbert, Kuntz Thomas, Shin Dong-In, Lapp Hendrik, Schiedat Fabian, Abumayyaleh Mohammad, Beiert Thomas, Weth Christian, Kovacs Boldizsar, Rosenkaimer Stephanie, Kowitz Jacqueline, Saguner Ardan Muammer, Erath Julia W, Duru Firat, Mügge Andreas, Akin Ibrahim, Aweimer Assem, Hamdani Nazha, El-Battrawy Ibrahim,
Abstract
BACKGROUND:
Data on the use of the wearable cardioverter defibrillator in patients suffering from inherited and congenital heart disease are limited. Consequently, evidence for guideline recommendations in this patient population is lacking.
METHODS:
In total 1,675 patients were included in a multicenter registry of eight European centers. In the present cohort, we included 18 patients suffering from congenital and inherited heart disease.
RESULTS:
Nine patients (50%) were male with a mean age of 41.3?±?16.4 years. Four patients suffered from hypertrophic cardiomyopathy (HCM), four patients suffered from non-compaction cardiomyopathy (NCCM), two patients were diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) and one patient suffered from muscular dystrophy of the limb-girdle type with cardiac involvement, secondary cardiomyopathy. Three patients presented with Brugada syndrome (BrS). One patient suffered from long-QT syndrome type 1 (LQTS1). Furthermore, two patients had congenital heart defects and one patient suffered from cardiac sarcoidosis (CS). There were no appropriate/inappropriate shocks with the WCD in this cohort. One patient had recurrent self-limiting sustained ventricular tachycardia during the wear time, but actively inhibited a shock and was hospitalized. The compliance rate in this cohort was 77.8% with a mean wear time of 45.3?±?26.9 days with a mean follow-up time of 570?±?734 days. 55.6% (10/18) of the patients received an ICD after WCD wear time.
CONCLUSIONS:
This retrospective study of patients with inherited and congenital heart disease shows that WCD use is not beneficial in the majority of patients with inherited and congenital heart disease.
© 2024 Koepsel, Dreher, Blockhaus, Gotzmann, Klein, Kuntz, Shin, Lapp, Schiedat, Abumayyaleh, Beiert, Weth, Kovacs, Rosenkaimer, Kowitz, Saguner, Erath, Duru, Mügge, Akin, Aweimer, Hamdani and El-Battrawy.
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Making a case for mitochondria in hypertrophic cardiomyopathy.
Future Cardiol2024 Mar;20(4):179-182. doi: 10.1080/14796678.2024.2360355.
Prasun Pankaj, Kohli Utkarsh,
Abstract
Hypertrophic cardiomyopathy (HCM) is a well-known manifestation of inherited mitochondrial disease. Still, currently available gene panels do not include mitochondrial genome sequencing. Mitochondrial dysfunction plays a very important role in the pathogenesis of HCM, whether tested positive or negative by the currently available gene panels for HCM. Mitochondrial DNA variations may act as modifiers of disease manifestation in genotype-positive individuals. In genotype-negative individuals, it may be the primary driver of pathogenesis. A recent study has demonstrated that mitochondrial dysfunction is correlated with septal hypertrophy in genotype-negative HCM, which can be amenable to mitochondria-targeted therapy. It is important to consider mitochondrial genome sequencing as part of the genetic evaluation of HCM.
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Association of liver fibrosis-4 index with adverse outcomes in hypertrophic cardiomyopathy patients.
ESC Heart Fail2024 Jul;():. doi: 10.1002/ehf2.14977.
Abdu Fuad A, Mareai Redhwan M, Xiang Lanqing, Galip Jassur, Mohammed Abdul-Quddus, Zhang Wen, Liu Lu, Wang Chunyue, Mohammed Ayman A, Yin Guoqing, Lv Xian, Xu Yawei, Che Wenliang,
Abstract
AIMS:
The fibrosis-4 index (FIB-4) is a non-invasive tool to assess fibrosis risk in chronic liver disease. We aimed to explore the relationship between the FIB-4 index and long-term major adverse cardiovascular events (MACE) in HCM patients.
METHODS AND RESULTS:
Consecutive patients diagnosed with HCM were included. Patients were divided into two groups using a defined cutoff value established through a ROC analysis for predicting MACE (FIB-4 ? 2.37 and FIB-4
CONCLUSION:
Elevated FIB-4 index, indicative of liver fibrosis, is independently associated with an increased risk of long-term MACE in HCM patients. This emphasizes the potential influence of liver function abnormalities on HCM prognosis, underscoring the need for comprehensive risk assessment in clinical management.
© 2024 The Author(s). ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
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Cardiac magnetic resonance imaging of hypertrophic cardiomyopathy with left ventricular apical septal diverticulum.
Eur Heart J Cardiovasc Imaging -
Microcirculatory dysfunction in hypertrophic cardiomyopathy with chest pain assessed by angiography-derived microcirculatory resistance.
Sci Rep2024 Jul;14(1):16977. doi: 16977.
Lu Yahui, Xue Zheng-Kai, Gao Wenqing, Bai Geng, Zhang Xiaowei, Chen Kang-Yin, Li Guangping,
Abstract
Chest pain, a common initial symptom in hypertrophic cardiomyopathy (HCM) patients, is closely linked to myocardial ischemia, despite the absence of significant coronary artery stenosis. This study explored microvascular dysfunction in HCM patients by employing angiography-derived microcirculatory resistance (AMR) as a novel tool for comprehensive assessment. This retrospective analysis included HCM patients with chest pain as the primary symptom and control patients without cardiac hypertrophy during the same period. The AMR was computed through angiography, providing a wire-free and adenosine-free index for evaluating microcirculatory function. Propensity score matching ensured balanced demographics between groups. This study also investigated the correlation between the AMR and clinical outcomes by utilizing echocardiography and follow-up data. After matching, 76 HCM patients and 152 controls were analyzed. While there was no significant difference in the incidence of epicardial coronary stenosis, the AMR of three epicardial coronary arteries was markedly greater in HCM patients. The criterion of an AMR???250 mmHg*s/m was that 65.7% of HCM patients experienced coronary microvascular dysfunction (CMD). Independent risk factors for CMD included increased left ventricular (LV) wall thickness (OR?=?1.209, 95% CI 1.013-1.443, p?=?0.036). Furthermore, an AMR_LAD???250 mmHg*s/m had an increased cumulative risk of the endpoint (log-rank p?=?0.023) and was an independent risk factor for the endpoint (HR?=?11.64, 95% CI 1.13-120.03, p?=?0.039), providing valuable prognostic insights.
© 2024. The Author(s).
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A personalized mRNA signature for predicting hypertrophic cardiomyopathy applying machine learning methods.
Sci Rep2024 Jul;14(1):17023. doi: 17023.
Gu Jue, Zhao Yamin, Ben Yue, Zhang Siming, Hua Liqi, He Songnian, Liu Ruizi, Chen Xu, Sheng Hongzhuan,
Abstract
Hypertrophic cardiomyopathy (HCM) may lead to cardiac dysfunction and sudden death. This study was designed to develop a HCM signature applying bioinformatics and machine learning methods. Data of HCM and normal tissues were obtained from public databases to screen differentially expressed genes (DEGs) using the R software limma package. The Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) were performed for enrichment analysis of HCM-associated DEGs. Hub genes for HCM were determined using weighted gene co-expression network analysis (WGCNA) together with two machine learning algorithms (SVM-RFE and LASSO). Finally, we introduced a zebrafish model to simulate changes in the hub genes in the HCM and to observe their effects on cardiac disease development. The mRNA expression data from a total of 106 HCM tissues and 39 normal samples were collected and we screened 157 DEGs. Enrichment analysis showed that immune pathways played an important role in the pathogenesis of HCM. Three hub genes (FCN3, MYH6 and RASD1) were identified using WGCNA, SVM-RFE, and LASSO analysis. In a zebrafish model, knockdown of MYH6 and RASD1 resulted in cardiac malformations with reduced ventricular capacity and heart rate, which validated the clinical significance of these genes in the diagnosis of HCM. Based on machine learning algorithms, our study created a signature with potential impact on cardiac function and cardiac quality index for HCM. The current findings had important implications for the early diagnosis and treatment of HCM.
© 2024. The Author(s).
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Plot thickens: the progression of left ventricular 'hypertrophy' in Fabry disease.
Heart -
The D-HCM score, a new diagnostic tool for distinguishing hypertrophic cardiomyopathy from hypertensive cardiopathy.
ESC Heart Fail2024 Jul;():. doi: 10.1002/ehf2.14988.
Domain G, Biscond M, Dognin N, Strube C, Mondoly P, Réant P, Sarrazin J F, Galinier M, Champagne J, Rollin A, Carrié D, Cochet H, Lairez O, Philippon F, Ferrières J, Maury P, Steinberg C,
Abstract
AIM:
The diagnosis of hypertrophic cardiomyopathy (HCM) with moderate hypertrophy is challenging. Hypertensive heart disease (HHD) is the most common differential diagnosis that mimics the LVH of HCM. The aim of this study was to compare the QRS duration in HCM and HHD to create a novel diagnostic tool to identify primary HCM.
METHODS AND RESULTS:
We conducted an international retrospective multicentre study enrolling patients with true HCM and HHD. A total of 547 individuals with HCM and 139 with HHD were included. The median QRS duration was significantly shorter in HCM than in HHD (88 ms [80-94] vs. 98 ms [88-108]; P
CONCLUSION:
The QRS duration in patient with HCM is significantly shorter compared with patients with HHD-related LVH. QRS duration can be used as a diagnosis marker to distinguish between HCM and HHD. The D-HCM score is a novel, simple, and accurate diagnosis tool for HCM patients with mild to moderate phenotypes.
© 2024 The Author(s). ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
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An Interesting Case of Wolf-Parkinson-White Syndrome in a Young Patient With Sensorineural Deafness.
Cureus2024 Jun;16(6):e62928. doi: e62928.
Khan Zahid, Khan Ayub,
Abstract
Wolff-Parkinson-White (WPW) syndrome is a condition associated with tachycardia due to accessory pathways in the heart, and it is one of the most common causes of tachycardia in infants and children. WPW may also be associated with mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS syndrome) or LEOPARD syndrome (LS). We report a case of pre-excitation WPW syndrome in a 17-year-old man who was brought to the hospital by ambulance following the collapse. WPW syndrome type A was diagnosed from precordial leads. Electrocardiography (ECG) revealed a short PR interval, delta waves, and positive waves with dominant R in all pericardial leads. Blood test results showed an isolated elevated ALT level. Subsequent echocardiography was unremarkable, with an ejection fraction of 55%, apart from septal and inferior wall dyssynchrony. With regard to the past medical history, he had sensorineural deafness (SND) since childhood and had a family history of SND. Consequently, the patient was transferred to the cardiac electrophysiology department at another hospital after consultation and underwent ablation. A successful post-ablation electrocardiogram revealed the resolution of the WPW syndrome signs and post-ablation features, such as peak T waves.
Copyright © 2024, Khan et al.
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RNA Editing Holds Promise for Hypertrophic Cardiomyopathy Therapy.
Circulation -
Isoproterenol induced cardiac hypertrophy: A comparison of three doses and two delivery methods in C57BL/6J mice.
PLoS One2024 ;19(7):e0307467. doi: e0307467.
Perez-Bonilla Patricia, LaViolette Brianna, Bhandary Bidur, Ullas Soumya, Chen Xian, Hirenallur-Shanthappa Dinesh,
Abstract
Heart Failure (HF) continues to be a complex public health issue with increasing world population prevalence. Although overall mortality has decreased for HF and hypertrophic cardiomyopathy (HCM), a precursor for HF, their prevalence continues to increase annually. Because the etiology of HF and HCM is heterogeneous, it has been difficult to identify novel therapies to combat these diseases. Isoproterenol (ISP), a non-selective ?-adrenoreceptor agonist, is commonly used to induce cardiotoxicity and cause acute and chronic HCM and HF in mice. However, the variability in dose and duration of ISP treatment used in studies has made it difficult to determine the optimal combination of ISP dose and delivery method to develop a reliable ISP-induced mouse model for disease. Here we examined cardiac effects induced by ISP via subcutaneous (SQ) and SQ-minipump (SMP) infusions across 3 doses (2, 4, and 10mg/kg/day) over 2 weeks to determine whether SQ and SMP ISP delivery induced comparable disease severity in C57BL/6J mice. To assess disease, we measured body and heart weight, surface electrocardiogram (ECG), and echocardiography recordings. We found all 3 ISP doses comparably increase heart weight, but these increases are more pronounced when ISP was administered via SMP. We also found that the combination of ISP treatment and delivery method induces contrasting heart rate, RR interval, and R and S amplitudes that may place SMP treated mice at higher risk for sustained disease burden. Mice treated via SMP also had increased heart wall thickness and LV Mass, but mice treated via SQ showed greater increase in gene markers for hypertrophy and fibrosis. Overall, these data suggest that at 2 weeks, mice treated with 2, 4, or 10mg/kg/day ISP via SQ and SMP routes cause similar pathological heart phenotypes but highlight the importance of drug delivery method to induce differing disease pathways.
Copyright: © 2024 Perez-Bonilla et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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High prevalence of premature terminating variants in Korean hypertrophic cardiomyopathy patients.
Front Cardiovasc Med2024 ;11():1424551. doi: 1424551.
Ryu Seung Woo, Jeong Won Chan, Hong Geu Ru, Cho Jung Sun, Lee Soo Yong, Kim Hyungseop, Jang Jeong Yoon, Lee Sun Hwa, Bae Dae-Hwan, Cho Jae Yeong, Kim Ji Hee, Kim Kyung-Hee, Son Jang Won, Han Beomman, Seo Go Hun, Lee Hane,
Abstract
BACKGROUND:
The alpha-protein kinase 3 () gene (OMIM: 617608) is associated with autosomal recessive familial hypertrophic cardiomyopathy-27 (CMH27, OMIM: 618052). Recently, several studies have shown that monoallelic premature terminating variants (PTVs) in are associated with adult-onset autosomal dominant hypertrophic cardiomyopathy (HCMP). However, these studies were performed on patient cohorts mainly from European Caucasian backgrounds.
METHODS:
To determine if this finding is replicated in the Korean HCMP cohort, we evaluated 2,366 Korean patients with non-syndromic HCMP using exome sequencing and compared the cohort dataset with three independent population databases.
RESULTS:
We observed that monoallelic PTVs in were also significantly enriched in Korean patients with HCMP with an odds ratio score of 10-21.
CONCLUSIONS:
We suggest that PTV carriers be considered a risk group for developing HCMP and be monitored for cardiomyopathies.
© 2024 Ryu, Jeong, Hong, Cho, Lee, Kim, Jang, Lee, Bae, Cho, Kim, Kim, Son, Han, Seo and Lee.
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Sarcomere gene mutations in hypertrophic cardiomyopathy: how to clinically manage this information?
Int J Cardiol2024 Jul;():132373. doi: 10.1016/j.ijcard.2024.132373.
Sanna Giuseppe D, Finocchiaro Gherardo,
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Increased expression of human endogenous retrovirus K in endomyocardial biopsies from patients with cardiomyopathy - a transcriptomics meta-analysis.
BMC Genomics2024 Jul;25(1):707. doi: 707.
Heckmann Markus B, Finke Daniel, Sauerbrey Leander, Frey Norbert, Lehmann Lorenz H,
Abstract
Most studied, investigating transcriptional changes in myocardial biopsies focus on human genes. However, the presence and potential consequence of persistent expression of viral genes within the myocardium is unclear. The aim of the study was to analyze viral gene expression in RNAseq data from endomyocardial biopsies. The NCBI Bioproject library was screened for published projects that included bulk RNA sequencing data from endomyocardial biopsies from both healthy and diseased patients with a sample size greater than 20. Diseased patients with hypertrophic, dilated, and ischemic cardiomyopathies were included. A total of 507 patients with 507 samples from 6 bioprojects were included and mapped to the human genome (hg38). Unmappable sequences were extracted and mapped to an artificial 'super-virus' genome comprising 12,182 curated viral reference genomes. Subsequently, the sequences were reiteratively permutated and mapped again to account for randomness. In total, sequences from 68 distinct viruses were found, all of which were potentially human pathogenic. No increase in cardiotropic viruses was found in patients with dilated cardiomyopathy. However, the expression levels of the particle forming human endogenous retrovirus K were significantly increased (q?0.0003, ANOVA). Higher expression levels were associated with increased expression in mitochondrial pathways such as oxidative phosphorylation (p?0.0001). In Conclusion, expression of human endogenous retrovirus K is significantly increased in patients with dilated cardiomyopathy, which in turn was associated with transcriptional alterations in major cellular pathways.
© 2024. The Author(s).
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Radiofrequency ablation in patients with obstructive hypertrophic cardiomyopathy: An updated comprehensive review and meta-analysis.
Catheter Cardiovasc Interv2024 Jun;():. doi: 10.1002/ccd.31125.
da Silva Menezes Antonio, Sanches Murilo R, de Oliveira Filho Ernani, de Oliveira Elias J R, Oliveira Vinicius M R, Moraes Vitor R Y,
Abstract
BACKGROUND:
Radiofrequency catheter ablation (RFCA) has emerged as a therapeutic option for surgical myectomy and alcohol septal ablation (ASA) in patients with hypertrophic obstructive cardiomyopathy (HOCM), but its efficacy remains unclear.
AIM:
Due to limited research on RFCA for HCM, there is an ongoing attempt to assess its efficacy and safety.
METHODS:
PubMed, Embase, and Scopus were systematically searched for studies assessing the efficacy outcomes for patients with HOCM who underwent RFCA. Mean differences (MDs) with 95% confidence intervals (CIs) were computed using a random-effects model and heterogeneity was assessed using I statistics.
RESULTS:
We included 11 studies comprising 470 patients, of whom 34.6% were female. The mean patient age ranged from 43.7 to 60.7 years. During the follow-up after RFCA, there was a significant decrease in the left ventricular outflow tract (LVOT) gradient at rest (MD -60.25?mmHg; 95% CI [-70.53;-59.14?mmHg]; p?0.01) and during stimulation (MD -83.56?mmHg; 95% CI [-100.36;-66.76?mmHg]; p?0.01). Moreover, RFCA reduced interventricular septum (IVS) thickness (MD -3.61?mm; 95% CI [-5.64; -1.59?mm]; p?=?0.01) and New York Heart Association (NYHA) class (MD -1.46; 95% CI [-1.69; -1.24]; p?0.01).
CONCLUSIONS:
In patients with HOCM, RFCA was associated with an improved NYHA class, reduced IVS thickness, and decreased LVOT gradient at rest and with stimulation.
© 2024 Wiley Periodicals LLC.
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