Hypertrophic Cardiomyopathy Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Exercise limitation in hypertrophic cardiomyopathy: combined stress echocardiography and cardiopulmonary exercise test
ConclusionsBoth central and peripheral cardiovascular limitations are involved in exercise intolerance in HCM. Diastolic dysfunction seems to be the main driver for this limitation. (Source: ESC Heart Failure)
Source: ESC Heart Failure - April 19, 2024 Category: Cardiology Authors: Yonatan Erez, Eihab Ghantous, Aviel Shetrit, Ryan S. Zamanzadeh, David Zahler, Yoav Granot, Orly Ran Sapir, Michal Laufer Perl, Shmuel Banai, Yan Topilsky, Ofer Havakuk Tags: Original Article Source Type: research

Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants
This study describes the natural history and outcomes of children with thin-filament-associated HCM and compares it to thick-filament-associated disease. Longitudinal data were collected from 40 children under 18 years with a disease-causing variant in a thin-filament protein from a single quaternary referral centre. Twenty-one (female n=6, 35.5%) were diagnosed with HCM at a median age of 13.0 years (IQR 8.3–14.0). Over a median follow-up of 5.0 years (IQR 4.0–8.5), three (14.3%) experienced one or more major adverse cardiac events (MACE) (two patients had an out-of-hospital arrest and eight appropriate implan...
Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Norrish, G., Gasparini, M., Field, E., Cervi, E., Kaski, J. P. Tags: Open access Genotype-phenotype correlations Source Type: research

Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers
Formin homology 2 domain-containing 3 (FHOD3) gene has emerged as one of the main non-sarcomeric genes associated with hypertrophic cardiomyopathy (HCM), but no cases of biallelic variants associated with disease have been described to date. From 2014 until 2021, FHOD3 was evaluated in our center by next-generation sequencing in 22 806 consecutive unrelated probands. The p.Arg637Gln variant in FHOD3 was enriched in our HCM cohort (284 of 9668 probands; 2.94%) compared with internal controls (64 of 11 480; 0.59%) and gnomAD controls (373 of 64 409; 0.58%), with ORs of 5.40 (95% CI: 4.11 to 7.09) and 5.19 (95% CI: 4.44 to 6....
Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Piqueras-Flores, J., Villacorta-Argüelles, E., Galvin, J., Climent-Paya, V., Escobar-Lopez, L. E., Amor-Salamanca, A., Garcia-Hernandez, S., Esmonde, S., Martinez-Del Rio, J., Soto-Perez, M., Garcia-Pavia, P., Ochoa, J. P. Tags: Genotype-phenotype correlations Source Type: research

Intramyocardial calcification in apical hypertrophic cardiomyopathy assessed using multimodality imaging: a case series
We report five cases of ApHCM, with evidence of intramyocardial calcification on echocardiogram. On cardiac magnetic imaging (MRI), a hypointense component at early gadolinium enhancement (EGE) sequences, compatible with calcium, and a deep layer, with hyperintensity at late gadolinium enhancement (LGE) sequences, referable to fibrosis, suggest an endomyocardial fibrosis (EMF) diagnosis. EMF pathologic hallmark is endocardium and myocardium scarring, evolving to dystrophic calcification. It is found only in few ApHCM patients. Our series is the largest one described until now. Analysing patients' history, coexistent inflam...
Source: ESC Heart Failure - April 18, 2024 Category: Cardiology Authors: Ilaria Radano, Barbara Mabritto, Stefania Luceri, Sergio Bongioanni, Francesco Maiellaro, Luca Zappia, Chiara Lario, Annalisa Macera, Stefano Cirillo, Alfredo Pizzuti, Rodolfo Citro, Gennaro Galasso, Giuseppe Musumeci Tags: Case Report Source Type: research

The feasibility of left ventricular strain and strain rate for evaluating patients with risk factors of sudden cardiac death in hypertrophic cardiomyopathy by Feature-tracking Cardiac Magnetic Resonance
Sudden cardiac death (SCD) represents the most severe complication of hypertrophic cardiomyopathy (HCM). However, the relationship between strain, strain rate, and risk factors in SCD risk stratification remains elusive. The study aimed to assess the attenuation of strain and strain rate in HCM by feature-tracking cardiac magnetic resonance (FT-CMR). All strain and strain rates were obtained automatically by FT, with manual adjustment of endocardial and epicardial borders. Strain indicators included left ventricular (LV) global longitudinal (GLS), circumferential (GCS), radial strain (GRS), peak diastolic-longitudinal (PD-...
Source: The American Journal of Cardiology - April 18, 2024 Category: Cardiology Authors: Xinyu Zhu, Yuan Tian, Ying Shi, Jianxiu Lian, Honghu Shen, Lulu Li, Haishan Wu, Pengfei Liu Source Type: research

Calorie restriction anti-hypertrophic effects are associated with improved mitochondrial content, blockage of Ca < sup > 2+ < /sup > -induced mitochondrial damage, and lower reverse electron transport-mediated oxidative stress
In this study, we show that this dietetic intervention prevents cardiac protein elevation, avoids fetal gene reprogramming (atrial natriuretic peptide), and blocks the increase in heart weight per tibia length index (HW/TL) seen in isoproterenol-induced cardiac hypertrophy. Our findings suggest that calorie restriction inhibits cardiac pathological growth while also lowering mitochondrial reverse electron transport-induced hydrogen peroxide formation and improving mitochondrial content. Calorie restriction also attenuated the opening of the Ca2+-induced mitochondrial permeability transition pore. We also found that calorie...
Source: Free Radical Research - April 17, 2024 Category: Research Authors: Aline Maria Brito Lucas Plinio Bezerra Palacio Pedro Lourenzo Oliveira Cunha Heberty Tarso Facundo Source Type: research

Machine learning ‐driven diagnostic signature provides new insights in clinical management of hypertrophic cardiomyopathy
ConclusionsOur study revealed a number of hub genes and novel pathways to provide potential targets for the treatment of HCM. A stable model was developed, providing an efficient tool for the diagnosis of HCM. (Source: ESC Heart Failure)
Source: ESC Heart Failure - April 17, 2024 Category: Cardiology Authors: Shutong Liu, Peiyu Yuan, Youyang Zheng, Chunguang Guo, Yuqing Ren, Siyuan Weng, Yuyuan Zhang, Long Liu, Zhe Xing, Libo Wang, Xinwei Han Tags: Original Article Source Type: research

Prevalence and Predictors of Readmissions Among Patients with Hypertrophic Cardiomyopathy and Atrial Fibrillation/Flutter
Atrial fibrillation/flutter (AF) is the most common dysrhythmia in patients with hypertrophic cardiomyopathy (HCM). Unexplained left ventricular hypertrophy and left ventricular outflow tract (LVOT) obstruction are integral components of HCM pathology which can cause increased left atrial pressure and atrial myopathy contributing to the substrate for AF. Our aim was to determine the impact of AF on hospital readmissions in patients with HCM. We conducted a retrospective analysis using the 2015 - 2019 Nationwide Readmission Database to analyze the effect of AF on 30-day readmission and causes of 30-day readmission in patien...
Source: The American Journal of Cardiology - April 16, 2024 Category: Cardiology Authors: Muhammad Usman Almani, Khawaja Muhammad Talha, Laibah Arhsad Khan, Ishaque Hameed, Zain Ul Abideen Asad, Marat Fudim, Richard Krasuski, Muhammad Shahzeb Khan Source Type: research

Incremental value of diastolic wall strain in predicting heart failure events in patients with atrial fibrillation
This study aims to assess DWS as a predictor of HF in AF patients with preserved ejection fraction. We analysed a prospective database of AF patients undergoing transthoracic echocardiography. AF patients with reduced left ventricular ejection fraction (< 50%), posterior wall motion abnormality, hypertrophic cardiomyopathy, valvular heart disease, pericardial disease, congenital heart disease, or history of pacemaker/implantable cardioverter-defibrillator implantation or cardiac surgery were excluded. The study followed patients until HF developme nt, death, or last visit. Follow-up for patients who underwent cathete...
Source: Heart and Vessels - April 16, 2024 Category: Cardiology Source Type: research

The role of cardiac magnetic resonance in sports cardiology: results from a large cohort of athletes
ConclusionCMR is more efficient in identifying a pathologic cardiac substrate in athletes in case of VAs (i.e., polymorphic beats), abnormal ECG repolarisation (negative T-waves in inferolateral leads), and borderline echocardiographic findings (LV hypertrophy, mildly depressed LV function). On the other hand, CMR is associated with a large proportion of negative results. Therefore, a careful clinical selection is needed to indicate CMR in athletes appropriately.Graphical AbstractClinical indications for CMR and positive CMR findings.The left panel shows clinical indications for CMR in our athletic cohort and the percentag...
Source: Clinical Research in Cardiology - April 15, 2024 Category: Cardiology Source Type: research

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
ConclusionsCPTII deficiency may be suspected in newborns showing cardiac arrhythmias, associated or not with hypertrophic cardiomyopathy, polycystic kidneys, brain malformations, hepatomegaly. Its diagnosis should be even more suspected and investigated in cases of increased plasmatic levels of creatine phosphokinase and acylcarnitines in addition to kidney, heart and liver dysfunctions, as occurred in the present patient. Accurate family history, extended metabolic screening, and multidisciplinary approach are necessary for diagnosis and adequate management of affected subjects. Next generation sequencing (NGS) techniques...
Source: Italian Journal of Pediatrics - April 14, 2024 Category: Pediatrics Source Type: research

Incidence of Newly Recognized Atrial Fibrillation in Patients with Obstructive Hypertrophic Cardiomyopathy Treated with Mavacamten
Mavacamten is a cardiac myosin inhibitor that has been shown to reduce left ventricular outflow tract obstruction in obstructive hypertrophic cardiomyopathy (oHCM).1 In late-stage clinical trials, atrial fibrillation (AF) represented an adverse event in 2-4 % of the patients randomized to mavacamten.1,2 However, the effect of mavacamten on the frequency and management of new/recurrent AF episodes in oHCM receiving mavacamten following its Food and Drug Administration (FDA) approval remains only partially explored. (Source: Heart Rhythm)
Source: Heart Rhythm - April 13, 2024 Category: Cardiology Authors: Matteo Castrichini, Said Alsidawi, Jeffrey B. Geske, Darrell B. Newman, Adelaide M. Arruda-Olson, J. Martijn Bos, Steve R. Ommen, Konstantinos C. Siontis, Michael J. Ackerman, John R. Giudicessi Source Type: research

Transapical intramyocardial septal microwave ablation in treatment of hypertrophic obstructive cardiomyopathy: 12-month outcomes of a swine model
To date, the extended Morrow procedure is considered the gold standard treatment for patients with obstructive hypertrophic cardiomyopathy who experience severe symptoms and are unresponsive to medication trea... (Source: Journal of Cardiothoracic Surgery)
Source: Journal of Cardiothoracic Surgery - April 13, 2024 Category: Cardiovascular & Thoracic Surgery Authors: Mi Zhou, Zhaolong Li, Yun Liu, Yuehua Fang, Le Qin, Wenjie Yang, Fuhua Yan and Qiang Zhao Tags: Research Source Type: research

Novel Therapies for the Treatment of Cardiovascular Disease
Over the last decade, randomized clinical trials of several pharmacologic agents have demonstrated a reduction in cardiovascular mortality and other important secondary outcomes. Angiotensin-Neprilysin Inhibitors and Sodium-Glucose Co-transporter 2 inhibitors have now become pillars in the treatment of heart failure. Ivabradine is a negative chronotropic agent used as an adjunctive therapy in patients with heart failure. Two new hypertension therapies, zilebresiran and aprocitentan, are currently in investigational stages. Finally, mavacamten has emerged as a pharmacologic treatment for hypertrophic obstructive cardiomyopa...
Source: Medical Clinics of North America - April 12, 2024 Category: Primary Care Authors: Abdul Aziz A. Asbeutah, Zachary D. Goldberger Source Type: research