In this episode of the Heart podcast, Social Media Intern, Dr Andrew Perry is joined by Dr. Gasnat Shaboodien, a researcher at the University of Cape Town who studies the genetics of cardiovascular disease.

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Link to published paper: https://heart.bmj.com/content/early/2022/02/08/heartjnl-2021-320424

Searching for genetic causes of cardiomyopathy

It's

Cardiomyopathy

Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation.

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290

Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf

Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira

Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment. 

Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
Nicole J. Van Bergen, et al
https://doi.org/10.1002/jimd.12541

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses 
Nicole J Van Bergen, et al
https://doi.org/10.1093/brain/awy310

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
Nicole J Van Bergen, et al
https://doi.org/10.3390/ijms24043582

NAXD deficiency

In this episode, Dr. Kristen Nordenholz breaks down some of the causes and differential for right heart failure in EM. This ties in with the prior podcast from CoACEP with Dr. Tems talking about the indications for ECMO. 

Differential Cause of Right Heart Failure with Dr. Kristen Nordenholz - CoACEP

These days, you can buy a home DNA kit for just $99.  Advances in genetic testing are allowing medical professionals to evaluate individual patients and tailor their treatment.  Lilia Fuquen reports that there’s a cutting edge clinic in Virginia using genetic testing to see if patients carry hereditary heart disease.

Heart Genetics Feature

Hypertrophic Cardiomyopathy (HCM) is an inherited genetic heart condition affecting hundreds of thousands of people around the globe and is the leading cause of sudden cardiac death in young adults. In the first of a series of podcasts, leading HCM cardiologists discuss disease pathophysiology, diagnosis, treatment and unmet need that exists for the management of HCM. 

Host: 
Dr. Matthew Roe, Faculty Director, Global Outcomes Commercial Megatrials, DCRI Fellowship Program Director, Duke University

Participants:

Dr. Eric Topol, Chief Academic Officer, Scripps Clinic; Director of Scripps Translational Science Institute; Gary and Mary West Chairman of Innovative Medicine; and Co-founder of West Wireless Health Institute

Dr. Bernard Gersh, Professor of Medicine, Mayo Clinic College of Medicine; Consultant in Cardiac Diseases at the Mayo Clinic; and Co-chair of the ACC/AHA HCM Guidelines Committee

Dr. Euan Ashley, Associate Professor of Cardiovascular Medicine, Genetics and Pathology, Stanford University Medical Center; Founding Director of the Stanford  Center for Inherited Cardiovascular Disease

Dr. Andrew Wang, Structural Heart Disease Specialist, Duke University Medical Center

Dr. Martin Maron, Director, Hypertrophic Cardiomyopathy Center; Co-Director, Cardiac CT and MRI; Assistant Professor, Tufts University School of Medicine

Heartbeats: A Conversation with The Hypertrophic Cardiomyopathy Experts

Audio explanations to complement the smartypance.com Emergency Medicine End of Rotation Exam: https://smartypance.com/emergency-medicine-post-rotation-exam/

Emergency Medicine EOR Exam 1 #29 - Hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy

In this World Shared Practice Forum video, Dr. Heidi Dalton maps out the rapid expansion of ECMO use globally, describes challenges that providers face in the field of ECMO, and solutions to overcome these challenges in the future.

Initial publication: October 12, 2019.

Please visit: www.openpediatrics.org
 
OPENPediatrics™ is an interactive digital learning platform for healthcare clinicians sponsored by Boston Children's Hospital and in collaboration with the World Federation of Pediatric Intensive and Critical Care Societies. It is designed to promote the exchange of knowledge between healthcare providers around the world caring for critically ill children in all resource settings. The content includes internationally recognized experts teaching the full range of topics on the care of critically ill children. All content is peer-reviewed and open access-and thus at no expense to the user.

For further information on how to enroll, please email: openpediatrics@childrens.harvard.edu

Please note: OPENPediatrics does not support nor control any related videos in the sidebar, these are placed by Youtube. We apologize for any inconvenience this may cause.

Updates in ECMO by Dr. H. Dalton, S. Vitali | OPENPediatrics

ACEP Frontline, hosted by Dr. Ryan Stanton, features in-depth conversations on the hottest topics in emergency medicine and critical care.

The Dumpy Unkle Management Program (DUMP) provides assistance in spiraling a prospective project directly down the tubes of success. If you feel the urge, please send a direct message for more information about becoming a part of the DUMP. #FREEDUMPS

An informational podcast series about hypertrophic cardiomyopathy (HCM) from the perspective of physician experts. 

Hypertrophic cardiomyopathy (HCM) is the most common form of heritable cardiomyopathy. It is estimated that as many as 630,000 people in the United States have a form of HCM. HCM is defined as an otherwise unexplained thickening of the walls of the heart, known as hypertrophy. The consequences include reduced blood volumes and cardiac output, reduced ability of the left ventricle to expand, and high filling pressures. These can all contribute to reduced effort tolerance and symptoms that include shortness of breath and chest pain. HCM is a chronic disease and for the majority of patients, the disease progresses slowly and can be extremely disabling. HCM can also cause stroke or sudden cardiac death, and is the most common cause of sudden cardiac death in young people.

Each week on With Good Reason we explore a world of ideas with leading scholars in literature, history, science, philosophy, and the arts.  With Good Reason is created by Virginia Humanities and the Virginia Higher Education Broadcasting Consortium.

PANCE, PANRE, and End of Rotation (EOR) Exam Review. Don't study harder, study smarter: https://smartypance.com/

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

Popular tracks tagged #cardiomyopathy