Full Text Journal Articles by
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Katy Bell, Jenny Doust, Kevin McGeechan, Andrea R Horvath, Alexandra Barratt, Andrew Hayen, Christopher Semsarian, Les Irwig,

J Hypertens (Journal of hypertension)
[2021, 39(5):1045-1046]

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Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among healthcare professionals.

Lieke M van den Heuvel, Judy Do, Laura Yeates, Heather MacLeod, Cynthia A James, Johan Duflou, Jonathan R Skinner, Christopher Semsarian, J Peter van Tintelen, Jodie Ingles,

<h4>Background</h4>Thorough investigation of sudden cardiac death (SCD) in those aged 1-40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable.<h4>Objective</h4>We aimed to explore practices of postmortem genetic testing and attitudes of healthcare professionals worldwide.<h4>Methods</h4>A survey was administered among healthcare professionals recruited through professional associations, social ... Read more >>

Heart Rhythm (Heart rhythm)
[2021, :]

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Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Nicholas A Marston, Larry Han, Iacopo Olivotto, Sharlene M Day, Euan A Ashley, Michelle Michels, Alexandre C Pereira, Jodie Ingles, Christopher Semsarian, Daniel Jacoby, Steven D Colan, Joseph W Rossano, Samuel G Wittekind, James S Ware, Sara Saberi, Adam S Helms, Carolyn Y Ho,

<h4>Aims</h4>Childhood-onset hypertrophic cardiomyopathy (HCM) is far less common than adult-onset disease, thus natural history is not well characterized. We aim to describe the characteristics and outcomes of childhood-onset HCM.<h4>Methods and results</h4>We performed an observational cohort study of 7677 HCM patients from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). Hypertrophic cardiomyopathy patients ... Read more >>

Eur Heart J (European heart journal)
[2021, :]

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Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Andrea D Thompson, Adam S Helms, Anamika Kannan, Jaime Yob, Neal K Lakdawala, Samuel G Wittekind, Alexandre C Pereira, Daniel L Jacoby, Steven D Colan, Euan A Ashley, Sara Saberi, James S Ware, Jodie Ingles, Christopher Semsarian, Michelle Michels, Francesco Mazzarotto, Iacopo Olivotto, Carolyn Y Ho, Sharlene M Day,

<h4>Purpose</h4>Variants in MYBPC3 causing loss of function are the most common cause of hypertrophic cardiomyopathy (HCM). However, a substantial number of patients carry missense variants of uncertain significance (VUS) in MYBPC3. We hypothesize that a structural-based algorithm, STRUM, which estimates the effect of missense variants on protein folding, will identify ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2021, :]

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Clinical Profile and Health Disparities in a Multiethnic Cohort of Patients With Hypertrophic Cardiomyopathy.

Alexandra Butters, Caitlin R Semsarian, Richard D Bagnall, Laura Yeates, Fergus Stafford, Charlotte Burns, Christopher Semsarian, Jodie Ingles,

<h4>Background</h4>Clinical studies of hypertrophic cardiomyopathy are over-represented by individuals of European ethnicity, with less known about other ethnic groups. We investigated differences between patients in a multiethnic Australian hypertrophic cardiomyopathy population.<h4>Methods</h4>We performed a retrospective cohort study of 836 unrelated hypertrophic cardiomyopathy probands attending a specialized clinic between 2002 and 2020. ... Read more >>

Circ Heart Fail (Circulation. Heart failure)
[2021, 14(3):e007537]

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Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP

Ming Soh, Richard Bagnall, Mark Bennett, Lauren Bleakley, Erlina Mohamed Syazwan, Marie Phillips, Mathew D.F. Chiam, Chaseley McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid Scheffer, Samuel Berkovic, Christopher Reid,

<h4>Objective</h4> To compare the frequency and impact on channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss-of-function KCNH2 variants as predictive biomarkers of SUDEP risk. <h4>Methods</h4> We searched for KCNH2 variants with a ... Read more >>

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Transcriptome Sequencing of Patients with Hypertrophic Cardiomyopathy Reveals Novel Splice-altering Variants in MYBPC3.

Mira Holliday, Emma S Singer, Samantha B Ross, Seakcheng Lim, Sean Lal, Jodie Ingles, Christopher Semsarian, Richard D Bagnall,

<b>Background</b> - Transcriptome sequencing can improve genetic diagnosis of Mendelian diseases but requires access to tissue expressing disease-relevant transcripts. We explored genetic testing of hypertrophic cardiomyopathy (HCM) using transcriptome sequencing of patient-specific human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs). We also explored whether antisense oligonucleotides (AOs) could inhibit aberrant ... Read more >>

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2021, :]

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Discordant clinical features of identical hypertrophic cardiomyopathy twins.

Giuliana G Repetti, Yuri Kim, Alexandre C Pereira, Jodie Ingles, Mark W Russell, Neal K Lakdawala, Carolyn Y Ho, Sharlene Day, Christopher Semsarian, Barbara McDonough, Steven R DePalma, Daniel Quiat, Eric M Green, Christine E Seidman, J G Seidman,

Hypertrophic cardiomyopathy (HCM) is a disease of heart muscle, which affects ∼1 in 500 individuals and is characterized by increased left ventricular wall thickness. While HCM is caused by pathogenic variants in any one of eight sarcomere protein genes, clinical expression varies considerably, even among patients with the same pathogenic ... Read more >>

Proc Natl Acad Sci U S A (Proceedings of the National Academy of Sciences of the United States of America)
[2021, 118(10):]

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Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.

Rachel Austin, Michael C J Quinn, Clifford Afoakwah, Alejandro Metke-Jimenez, Hugo Leroux, John Atherton, Jaye S Brown, Linda J Wornham, Ivan Macciocca, Michelle G de Silva, Tina Thompson, Ellenore M Martin, Desiree Hilton, Sophie Devery, Kathy H C Wu, Matilda R Jackson, Gemma Correnti, Angela Overkov, Stefanie Elbracht-Leong, Jodie Ingles, Paul Scuffham, Christopher Semsarian, Julie McGaughran,

<h4>Background</h4>This sub-study of the Australian Genomics Cardiovascular Genetic Disorders Flagship sought to conduct the first nation-wide audit in Australia to establish the current practices across cardiac genetics clinics.<h4>Method</h4>An audit of records of patients with a suspected genetic heart disease (cardiomyopathy, primary arrhythmia, autosomal dominant congenital heart disease) who had a ... Read more >>

Int J Cardiol (International journal of cardiology)
[2021, 330:128-134]

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The Wait is Over: The 2020 American Heart Association/American College of Cardiology (AHA/ACC) Hypertrophic Cardiomyopathy Guidelines Have Arrived.

Christopher Semsarian, Lindsay Davis,

Heart Lung Circ (Heart, lung & circulation)
[2021, 30(4):465-468]

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The potential for overdiagnosis and underdiagnosis because of blood pressure variability: a comparison of the 2017 ACC/AHA, 2018 ESC/ESH and 2019 NICE hypertension guidelines.

Katy Bell, Jenny Doust, Kevin McGeechan, Andrea Rita Horvath, Alexandra Barratt, Andrew Hayen, Christopher Semsarian, Les Irwig,

<h4>Objective</h4>To estimate the extent that BP measurement variability may drive over- and underdiagnosis of 'hypertension' when measurements are made according to current guidelines.<h4>Methods</h4>Using data from the National Health and Nutrition Examination Survey and empirical estimates of within-person variability, we simulated annual SBP measurement sets for 1 000 000 patients over 5 years. ... Read more >>

J Hypertens (Journal of hypertension)
[2021, 39(2):236-242]

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Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.

Alice Ghidoni, Perry M Elliott, Petros Syrris, Hugh Calkins, Cynthia A James, Daniel P Judge, Brittney Murray, Julien Barc, Vincent Probst, Jean-Jacques Schott, Jiang-Ping Song, Richard N W Hauer, Edgar T Hoorntje, J Peter van Tintelen, Eric Schulze-Bahr, Robert M Hamilton, Kirti Mittal, Christopher Semsarian, Elijah R Behr, Michael J Ackerman, Cristina Basso, Gianfranco Parati, Davide Gentilini, Maria-Christina Kotta, Bongani M Mayosi, Peter J Schwartz, Lia Crotti,

<b>Background</b> - Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by fibro-fatty replacement of the right and/or left ventricle, often causing ventricular dysfunction and life-threatening arrhythmias. Variants in desmosomal genes account for up to 60% of cases. Our objective was to establish the prevalence and clinical features of ACM ... Read more >>

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2021, :]

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Comparison of conventional autopsy with post-mortem magnetic resonance, computed tomography in determining the cause of unexplained death.

Giuseppe Femia, Neil Langlois, Jim Raleigh, Belinda Gray, Farrah Othman, Sunthara Rajan Perumal, Christopher Semsarian, Rajesh Puranik,

Conventional autopsy is the gold standard for identifying unexplained death but due to declines in referrals, there is an emerging role for post-mortem imaging. We evaluated whether post-mortem magnetic resonance (PMMR) and computed tomography (PMCT) are inferior to conventional autopsy. Deceased individuals ≥ 2 years old with unexplained death referred for coronial investigation ... Read more >>

Forensic Sci Med Pathol (Forensic science, medicine, and pathology)
[2021, 17(1):10-18]

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Global approaches to postmortem genetic testing after sudden cardiac death in the young: A survey among healthcare professionals

Lieke van den Heuvel, Judy Do, Laura Yeates, Heather MacLeod, Cynthia James, Johan Duflou, Jonathan Skinner, Christopher Semsarian, Peter van Tintelen, Jodie Ingles,

<h4>ABSTRACT</h4> <h4>Purpose</h4> Thorough investigation of sudden cardiac death (SCD) in those aged 1-40 years commonly reveals a heritable cause, yet access to postmortem genetic testing is variable. We explore practices of postmortem genetic testing and attitudes of healthcare professionals worldwide. <h4>Methods</h4> A survey was administered among healthcare professionals recruited through ... Read more >>

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Long term clinical outcomes associated with CMR quantified isolated left ventricular non-compaction in adults.

Giuseppe Femia, Danyi Zhu, Preeti Choudhary, Samantha B Ross, Vivek Muthurangu, David Richmond, David S Celermajer, Christopher Semsarian, Rajesh Puranik,

<h4>Background</h4>Left ventricular non-compaction (LVNC) is a complex clinical condition with several diagnostic criteria but no diagnostic gold standard. We aimed to evaluate our thresholding technique in a group of patients with LVNC and assess the risk of major adverse cardiovascular and cerebrovascular events (MACCE).<h4>Methods</h4>We retrospectively analyzed cardiac magnetic resonance (CMR) ... Read more >>

Int J Cardiol (International journal of cardiology)
[2021, 328:235-240]

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Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia.

Gerald F Watts, David R Sullivan, David L Hare, Karam M Kostner, Ari E Horton, Damon A Bell, Tom Brett, Ronald J Trent, Nicola K Poplawski, Andrew C Martin, Shubha Srinivasan, Robert N Justo, Clara K Chow, Jing Pang, ,

Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected ... Read more >>

Heart Lung Circ (Heart, lung & circulation)
[2021, 30(3):324-349]

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Left Ventricular Non-Compaction: Review of the Current Diagnostic Challenges and Consequences in Athletes.

Giuseppe Femia, Christopher Semsarian, Samantha B Ross, David Celermajer, Rajesh Puranik,

Left ventricular non-compaction (LVNC) is a complex clinical condition with no diagnostic gold standard. At present, there is trepidation about the accuracy of the diagnosis, the correlation to clinical outcomes and the long-term medical management. This article reviews the current imaging criteria, the limitations of echocardiography and cardiac magnetic resonance ... Read more >>

Medicina (Kaunas) (Medicina (Kaunas, Lithuania))
[2020, 56(12):]

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An Evidence-based Assessment of Genes in Dilated Cardiomyopathy

Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia James, Olga Jarinova, Renee Johnson, Daniel Judge, Najim Lahrouchi, Ronald Lekanne Deprez, Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros Domingo, Rebecca Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, Peter van Tintelen, Roddy Walsh, Jessica Wang, James Ware, Ray Hershberger,

<h4>Background: </h4> The cardiomyopathies are classically categorized as hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular (ARVC), and each have a signature genetic theme. HCM and ARVC are largely understood as genetic diseases of sarcomere or desmosome proteins, respectively. In contrast, >250 genes spanning more than 10 gene ontologies have ... Read more >>

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2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.

Steve R Ommen, Seema Mital, Michael A Burke, Sharlene M Day, Anita Deswal, Perry Elliott, Lauren L Evanovich, Judy Hung, José A Joglar, Paul Kantor, Carey Kimmelstiel, Michelle Kittleson, Mark S Link, Martin S Maron, Matthew W Martinez, Christina Y Miyake, Hartzell V Schaff, Christopher Semsarian, Paul Sorajja,

J Am Coll Cardiol (Journal of the American College of Cardiology)
[2020, 76(25):e159-e240]

Cited: 1 time

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2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.

Steve R Ommen, Seema Mital, Michael A Burke, Sharlene M Day, Anita Deswal, Perry Elliott, Lauren L Evanovich, Judy Hung, José A Joglar, Paul Kantor, Carey Kimmelstiel, Michelle Kittleson, Mark S Link, Martin S Maron, Matthew W Martinez, Christina Y Miyake, Hartzell V Schaff, Christopher Semsarian, Paul Sorajja,

Aim This executive summary of the hypertrophic cardiomyopathy clinical practice guideline provides recommendations and algorithms for clinicians to diagnose and manage hypertrophic cardiomyopathy in adult and pediatric patients as well as supporting documentation to encourage their use. Methods A comprehensive literature search was conducted from January 1, 2010, to April ... Read more >>

Circulation (Circulation)
[2020, 142(25):e533-e557]

Cited: 3 times

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Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy.

Neal K Lakdawala, Iacopo Olivotto, Sharlene M Day, Larry Han, Euan A Ashley, Michelle Michels, Jodie Ingles, Christopher Semsarian, Daniel Jacoby, John L Jefferies, Steven D Colan, Alexandre C Pereira, Joseph W Rossano, Sam Wittekind, James S Ware, Sara Saberi, Adam S Helms, Allison L Cirino, Leslie A Leinwand, Christine E Seidman, Carolyn Y Ho,

<h4>Background</h4>The impact of sex on phenotypic expression in hypertrophic cardiomyopathy (HCM) has not been well characterized in genotyped cohorts.<h4>Methods</h4>Retrospective cohort study from an international registry of patients receiving care at experienced HCM centers. Sex-based differences in baseline characteristics and clinical outcomes were assessed.<h4>Results</h4>Of 5873 patients (3788 genotyped), 2226 (37.9%) were ... Read more >>

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2021, 14(1):e003062]

Cited: 1 time

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Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

Andrea Thompson, Adam Helms, Anamika Kannan, Jaime Yob, Neal Lakdawala, Samuel Wittekind, Alexandre Pereira, Daniel Jacoby, Steven Colan, Euan Ashley, Sara Saberi, James Ware, Jodie Ingles, Christopher Semsarian, Michelle Michels, Francesco Mazzarotto, Iacopo Olivotto, Carolyn Ho, Sharlene Day, ,

<h4>Purpose</h4> Variants in MYBPC3 causing loss-of-function are the most common cause of HCM. However, a substantial number of patients carry missense variants of uncertain significance (VUS) in MYBPC3. We hypothesize that a structural-based algorithm, STRUM, which estimates the effect of missense variants on protein folding, will improve clinical risk stratification ... Read more >>

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2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.

Steve R Ommen, Seema Mital, Michael A Burke, Sharlene M Day, Anita Deswal, Perry Elliott, Lauren L Evanovich, Judy Hung, José A Joglar, Paul Kantor, Carey Kimmelstiel, Michelle Kittleson, Mark S Link, Martin S Maron, Matthew W Martinez, Christina Y Miyake, Hartzell V Schaff, Christopher Semsarian, Paul Sorajja,

Circulation (Circulation)
[2020, 142(25):e558-e631]

Cited: 2 times

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Prevalence and Phenotypic Correlations of Calmodulinopathy-Causative CALM1-3 Variants Detected in a Multicenter Molecular Autopsy Cohort of Sudden Unexplained Death Victims.

Daniel J Clemens, Belinda Gray, Richard D Bagnall, David J Tester, John R Giudicessi, Joseph J Maleszewski, Lia Crotti, Peter J Schwartz, Emma Matthews, Christopher Semsarian, Elijah R Behr, Michael J Ackerman,

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2020, 13(6):e003032]

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The End Unexplained Cardiac Death (EndUCD) Registry for Young Australian Sudden Cardiac Arrest.

Elizabeth D Paratz, Luke Rowsell, Alexander van Heusden, Dominica Zentner, Sarah Parsons, Natalie Morgan, Tina Thompson, Paul James, Andreas Pflaumer, Christopher Semsarian, Jodie Ingles, Rosalind Case, Jocasta Ball, Karen Smith, Dion Stub, Andre La Gerche, ,

In 2019, the first multi-source registry of sudden cardiac arrest and death for patients aged 1-50 years launched in Victoria, Australia. Sudden cardiac arrest (SCA) affects approximately fifteen hundred younger Victorians per year. The End Unexplained Cardiac Death (EndUCD) Registry enrols SCA/death (D) cases aged 1-50 years, providing family screening, ... Read more >>

Heart Lung Circ (Heart, lung & circulation)
[2021, 30(5):714-720]

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