Ronen Durst
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View article: Reconsidering a silent variant: SGCA’s role in atypical cardiomyopathy
Reconsidering a silent variant: SGCA’s role in atypical cardiomyopathy Open
Limb-girdle muscular dystrophy type R3 (LGMDR3) is caused by pathogenic SGCA variants and typically presents as progressive muscle weakness with limited cardiac manifestations. We investigated five consanguineous families with substantial …
View article: Cardiac Manifestations of <i>Mycoplasma pneumoniae</i> Infections: A Cohort Study 2007–2024
Cardiac Manifestations of <i>Mycoplasma pneumoniae</i> Infections: A Cohort Study 2007–2024 Open
Background While Mycoplasma pneumoniae (MP) infections typically present as a respiratory disease, extrapulmonary manifestations are well-documented. Historically, cardiac involvement has been considered uncommon (1%–2%); however, recent o…
View article: Missing in action: the genetic mysteries of extremely low HDL cholesterol
Missing in action: the genetic mysteries of extremely low HDL cholesterol Open
Introduction High-Density Lipoprotein Cholesterol (HDL-C) plays a pivotal role in cardiovascular health, acting as a key component in lipid transport and atheroprotection. While low HDL-C levels in the general population are often the resu…
View article: A novel synonymous SGCA variant associated with arrhythmogenic cardiomyopathy in limb-girdle muscular dystrophy type 3
A novel synonymous SGCA variant associated with arrhythmogenic cardiomyopathy in limb-girdle muscular dystrophy type 3 Open
Background Limb-girdle muscular dystrophy type 3 (LGMDR3) is an autosomal recessive disorder caused by pathogenic variants in the SGCA gene encoding α-sarcoglycan. While LGMDR3 predominantly presents with progressive proximal muscle weakne…
View article: Reconsidering Silent Variant Unveils<i>SGCA</i>’s Role in Atypical Cardiomyopathy
Reconsidering Silent Variant Unveils<i>SGCA</i>’s Role in Atypical Cardiomyopathy Open
We investigated an atypical form of limb-girdle muscular dystrophy type R3 (LGMDR3) associated with a homozygous synonymous variant in SGCA that significantly expands the recognized clinical phenotype to include prominent cardiac involveme…
View article: Characterization of LTBP2 mutation causing mitral valve prolapse
Characterization of LTBP2 mutation causing mitral valve prolapse Open
Aims Mitral valve prolapse (MVP) is a common valvular disorder associated with significant morbidity and mortality, with a strong genetic basis. This study aimed to identify a mutation in a family with MVP and to characterize the valve phe…
View article: Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder: evidence from patients and models of the disease
Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder: evidence from patients and models of the disease Open
Background PPCS deficiency disorder (PPCS DD) is an ultra-rare, autosomal recessive form of dilated cardiomyopathy (DCM) caused by pathogenic variants in PPCS, which encodes the enzyme catalyzing the second step in the coenzyme A (CoA) bio…
View article: Characterization of LTBP2 mutation causing Mitral Valve Prolapse
Characterization of LTBP2 mutation causing Mitral Valve Prolapse Open
Background Mitral Valve Prolapse (MVP) is a prevalent valvular disorder linked to considerable morbidity and mortality, affecting approximately 2.4% of the general population. A prior genome association study linked LTBP2 to this trait. We…
View article: Endomyocardial biopsy in clinical practice: the diagnostic yield and insights from a 5-year single-center experience
Endomyocardial biopsy in clinical practice: the diagnostic yield and insights from a 5-year single-center experience Open
With advances in cardiac imaging modalities, EMB is not routinely indicated for the diagnosis of cardiomyopathy. However, EMB is still an important tool for diagnosing specific cardiac diseases and could be crucial for confirming the diagn…
View article: Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia
Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia Open
Importance Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition characterized by extremely increased low-density lipoprotein (LDL) cholesterol levels and premature atherosclerotic cardiovascular disease (ASCVD). Hete…
View article: GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism Open
Context A germline mutation can be identified in up to 10% of patients with primary hyperparathyroidism (PHPT). In 2017, a high frequency of the GCM2 [(NM_ 004752.4) c.1181A> C; p.Tyr394Ser; rs142287570] variant was reported in PHPT Ash…
View article: Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial
Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial Open
BACKGROUND: Homozygous familial hypercholesterolemia is a genetic disease characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular events. The proof-of-concept study …
View article: <scp>Tumor‐infiltrating</scp> lymphocyte transfusion in a patient with treatment refractory triple negative breast cancer
<span>Tumor‐infiltrating</span> lymphocyte transfusion in a patient with treatment refractory triple negative breast cancer Open
Background Triple negative breast cancer (TNBC) is an aggressive form of breast cancer that is treated with chemotherapy. Recently, programmed death 1 (PD1) inhibition, as well as antibody‐drug conjugates, have been added to the available …
View article: Long-term efficacy and safety of lerodalcibep in heterozygous familial hypercholesterolaemia: the LIBerate-HeFH trial
Long-term efficacy and safety of lerodalcibep in heterozygous familial hypercholesterolaemia: the LIBerate-HeFH trial Open
Background and Aims Lerodalcibep, a novel small recombinant fusion protein of a proprotein convertase subtilisin/kexin type 9 gene–binding domain (adnectin) and human serum albumin, demonstrated highly effective low-density lipoprotein cho…
View article: Novel Association of the NOTCH Pathway Regulator <i>MIB1</i> Gene With the Development of Bicuspid Aortic Valve
Novel Association of the NOTCH Pathway Regulator <i>MIB1</i> Gene With the Development of Bicuspid Aortic Valve Open
Importance Nonsyndromic bicuspid aortic valve (nsBAV) is the most common congenital heart valve malformation. BAV has a heritable component, yet only a few causative genes have been identified; understanding BAV genetics is a key point in …
View article: Cardiac and Other Presentation and Clinical Outcomes of COVID-19 Pandemic among Different Ethnic and Religious Populations in the city of Jerusalem
Cardiac and Other Presentation and Clinical Outcomes of COVID-19 Pandemic among Different Ethnic and Religious Populations in the city of Jerusalem Open
Background:The COVID-19 pandemic is an ongoing global pandemic.Jerusalem with its 919,400 inhabitants has a wide variety of populations, of which 62% are Jews (36% ultra-orthodox; 64% non-ultraorthodox) and 38% Arabs which were largely aff…
View article: LTBP2 mutation may cause mitral valve prolapse
LTBP2 mutation may cause mitral valve prolapse Open
Background Mitral valve prolapse (MVP, MIM 157700) is a very common cardiac disorder occurring in 2.4% of the general population. MVP is characterized by myxomatous degeneration resulting in valve thickening, prolapsing and regurgitation. …
View article: Mitral valve prolapse: From new mechanisms to diagnostic challenges
Mitral valve prolapse: From new mechanisms to diagnostic challenges Open
Mitral valve prolapse (MVP) is the most common primary valvular abnormality, associated with various degrees of incompetent function and sequelae, including heart failure and sudden cardiac death. Recent improvements in echocardiographic t…
View article: Cardiac and Other Presentation and Clinical Outcomes of COVID-19 Pandemic among Different Ethnic and Religious Populations in The City of Jerusalem
Cardiac and Other Presentation and Clinical Outcomes of COVID-19 Pandemic among Different Ethnic and Religious Populations in The City of Jerusalem Open
Background: The COVID‑19 pandemic is an ongoing global pandemic. Jerusalem with its 919,400 inhabitants has a wide variety of populations, of which 62% are Jews (36% ultra-orthodox; 64% non-ultraorthodox) and 38% Arabs which were largely a…
View article: 1061. Clinical Phage Microbiology: Evaluating Phages for Biofilm-associated Prosthetic Valve Endocarditis
1061. Clinical Phage Microbiology: Evaluating Phages for Biofilm-associated Prosthetic Valve Endocarditis Open
Background Prosthetic valve endocarditis (PVE) is a major treatment challenge associated with biofilm formation. It requires intensive infectious diseases consultations and prolonged therapy. Nevertheless, high mortality rates are reported…
View article: Cardiac and other presentation and clinical outcomes of COVID-19 pandemic among different ethnic and religious populations in the city of Jerusalem
Cardiac and other presentation and clinical outcomes of COVID-19 pandemic among different ethnic and religious populations in the city of Jerusalem Open
Background The COVID-19 pandemic is an ongoing global pandemic. Jerusalem with its 919,400 inhabitants has a wide variety of populations, of which 62% are Jews (36% ultra-orthodox; 64% non-ultraorthodox) and 38% Arabs which were largely af…
View article: Predictors of Hypoxemia and Related Adverse Outcomes in Patients Hospitalized with COVID-19: A Double-Center Retrospective Study
Predictors of Hypoxemia and Related Adverse Outcomes in Patients Hospitalized with COVID-19: A Double-Center Retrospective Study Open
Hypoxemia is a hallmark of coronavirus disease 2019 (COVID-19) severity. We sought to determine predictors of hypoxemia and related adverse outcomes among patients hospitalized with COVID-19 in the two largest hospitals in Jerusalem, Israe…