Podcasts about vascular ehlers danlos syndrome

In this episode we’re going to talk to Hugh Cox, a member of the Vascular Ehlers-Danlos Syndrome community diagnosed just in 2022. He was first misdiagnosed with a clotting disorder. 

Tyler Farley was originally on Staying Connected in 2022 to share his story with VEDS or Vascular Ehlers-Danlos Syndrome. He returns in this episode to share his recent experience with a bowel perforation in the fall of 2023, and how he is moving forward, as well as his experience meeting other people in person with … Read More Read More

Delaney Kinstner was diagnosed with Vascular Ehlers-Danlos Syndrome after a serious medical event 10 days after delivering her child caused her to be sedated and on ECMO for several weeks.  Find more information, including support groups and webinars, about VEDS, Marfan, and Loeys-Dietz, at thevedsmovement.org, loeysdietz.org, and marfan.org.  If you would like to share your … Read More Read More

Dr. Matt Chia and Dr. Ezra Schwartz (@ezraschwartz10) continue the exploration of how vascular surgeons and patients communicate. They discuss how we share stories with one another and what may get lost in translation.   We are excited to welcome Katie Wright (@Translucentone) and Dr. Sherene Shalhub (@ShereneShalhub) to discuss the patient experience of living with Vascular Ehlers-Danlos Syndrome or vEDS.   Katie Wright is the vEDS Natural History Study project coordinator in the Division of Vascular Surgery at Oregon Health & Science University, a podcaster, and a patient advocate. They served as the Director of the Marfan Foundation's vEDS Division, The VEDS Movement until this past March, and they sit on the VEDS Collaborative (@vEDSCollabo) and Aortic Dissection Collaborative (@ADCollab) advisory board. Katie was diagnosed with vEDS in 2017 at the age of 28. Shortly after diagnosis, they started raising awareness and fostering community through YouTube videos. Katie then began a podcast titled Staying Connected, a space to share the stories of other patients and patient families. In 2018, Katie started volunteering on the advisory board of the vEDS Collaborative, a patient-centered research collaborative group led by Dr. Sherene Shalhub.    Dr. Sherene Shalhub is the inaugural John M. Porter Chair in Vascular Surgery and Division Head of the Division of Vascular and Endovascular Surgery at Oregon Health & Science University. She is also the Vice Chair of Regional Strategy & Surgical Operations for the Department of Surgery. Dr. Shalhub's research interests focus on improving healthcare and outcomes for those with genetic vascular conditions. She is the lead investigator for the vEDS Collaborative Natural History Study and the PCORI-funded Aortic Dissection Collaborative. Dr. Shalhub obtained an MPH followed by her medical degree at the University of South Florida. Dr. Shalhub completed her general surgery training at the University of Washington. She then pursued fellowships in trauma research and vascular surgery at the University of Washington.   Resources:   The VEDS Movement  VEDS Collaborative & Natural History Study If you are interested in taking part in the study or would like more information, please contact the study team VEDSColl@ohsu.edu Donate to the vEDS Natural History Study here. Aortic Dissection Collaborative for Patient-Centered Research | BeCertain.org Staying connected Episode: What Medical Professionals Should Know about VEDS Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome Audible Bleeding Exam Prep Aortopathies Episode with Dr. Shalhub Free Chime Sound Effects Download - Pixabay   Follow us @audiblebleeding Learn more about us at https://www.audiblebleeding.com/about-1/ and provide us with your feedback with our listener survey.

Kristen St. John, whose daughter Marcie was diagnosed with Vascular Ehlers-Danlos Syndrome, or VEDS, shares her and Marcie’s experience with diagnosis and life with VEDS, including a bowel perforation that Marcie had at 4 years old. Find more information about VEDS, including support groups and medical webinars, at thevedsmovement.org  If you would like to share … Read More Read More

Part 1 of a two-part interview featuring Chris Schelling, CEO and Founder of Acer Therapeutics, and Dr. Adrian Quartel, Chief Medical Officer of Acer Therapeutics. In this episode, Chris joins to discuss the history of Edsivo, or celiprolol, and the DiSCOVER trial, a clinical trial for Edsivo enrolling people with VEDS  (Vascular Ehlers-Danlos Syndrome) in … Read More Read More

Part 2 of a two-part interview featuring Chris Schelling, CEO and Founder of Acer Therapeutics, and Dr. Adrian Quartel, Chief Medical Officer of Acer Therapeutics. In this episode, Adrian joins to discuss the details of the DiSCOVER trial, a clinical trial for Edsivo enrolling people with VEDS  (Vascular Ehlers-Danlos Syndrome) in the United States.  Learn … Read More Read More

In this episode we explore ways in which the extracellular matrix can be manipulated, including the story of doxycycline, TGF-beta in Marfan syndrome and whether beta blockers can reduce vascular events in vascular EDS. ·        Intro 0:12 ·        Review of previous episode 0:28 ·        In this episode 2:26 ·        The pressure against the vessels 4:06 ·        The pressure against the wall 8:44 ·        Matrix metalloproteinases 10:16 ·        Tadpole study – collagen breakdown 10:35 ·        Tetracycline antibiotics 14:05 ·        Rat model – periodontal disease and hydroxyproline 14:24 ·        Chemically modified tetracyclines 20:14 ·        Mouse model – tetracycline use 22:00 ·        Tetracyclines and other autoimmune conditions 23:22 ·        Marfan syndrome 24:45 ·        Fibrillin and Marfan syndrome 28:48 ·        TGF-beta 29:36 ·        Mouse model – Marfan syndrome and fibrillin 31:14 ·        ARBs and TGF-beta 33:51 ·        TGF-beta and vascular EDS 37:25 ·        Back to the mouse model 38:38 ·        Protein kinase C 39:56 ·        Summary 40:26 Disclosures: Brown reports no relevant financial disclosures. We'd love to hear from you! Send your comments/questions to Dr. Brown at rheuminationspodcast@healio.com. Follow us on Twitter @HRheuminations @AdamJBrownMD @HealioRheum. References: Bowen CJ, et al. J Clin Invest. 2020;130:686-698. Brooke BS. Lancet. 2010;doi:10.1016/S0140-6736(10)61155-5 Dietz HC, et al. Am J Med Genet C Semin Med Genet. 2005;doi:10.1002/ajmg.c.30068. Dubacher N, et al. Cardiovasc Res. 2020;116:457-465. Golub LM, et al. SAGE. 1998;doi:10.1177/08959374980120010501. Gross J, et al. PNAS. 1962;doi:10.1073/pnas.48.6.1014 Habashi JP, et al. Science. 2006;312:117-121. Morissette R, et al. Circ Cardiovasc Genet. 2014;7:80-88. Mullen M, et al. Lancet. 2019;394:2263-2270. Neptune ER, et al. Nat Genet. 2003;33:407-411.

Dive into vascular Ehlers-Danlos syndrome. What is it? How does it present? Get clues to its diagnosis and learn more about collagen than you ever wanted to know. Intro 0:12 In this episode 0:17 Why vascular Ehlers-Danlos syndrome? 0:28 Case study: Dr. Mories 2:20 What can we learn about vascular Ehlers-Danlos syndrome? 05:02 Collagen and elastin 05:57 Collagen: horses and glue 07:07 More about collagen 10:35 Why is it a problem to miss a little bit of collagen? 14:14 The problem in vascular Ehlers-Danlos syndrome 15:06 The history of vascular EDS 15:41 How is vascular Ehlers-Danlos syndrome diagnosed? 16:36 A vascular Ehlers-Danlos syndrome diagnosis 22:33 Mouse models 23:29 Clinical and genetic features of vascular Ehlers-Danlos syndrome 24:39 Question of vasculitis 25:55 The skin: the most common symptom of vascular EDS 28:00 Family history, de novo mutations and pregnancy 29:43 Surgery or vascular intervention 31:39 How do patients do in the long-term? 32:54 Summary 34:00 Preview of part 2 35:42 Thanks 36:25 Disclosures: Brown reports no relevant financial disclosures. We'd love to hear from you! Send your comments/questions to Dr. Brown at rheuminationspodcast@healio.com. Follow us on Twitter @HRheuminations @AdamJBrownMD @HealioRheum. References: Barabas AP. J Cardiovasc Surg (Torino). 1972;13(2):160-7. Chow MJ, et al. Biophys J. 2014;doi:10.1016/j.bpj.2014.05.014. Liu X, et al. Proc Natl Acad Sci USA. 1997;doi:10.1073/pnas.94.5.1852. Mories A. Scott Med J. 1960;5:269-72. Pepin M, et al. N Engl J Med. 2000;doi:10.1056/NEJM200003093421001. Pepin MG, et al. Genet Med. 2014;doi:10.1038/gim.2014.72. Piez KA. Matrix Biol. 1997;doi:10.1016/s0945-053x(97)90037-8. Pope FM, et al. Proc Natl Acad Sci USA. 1975;doi:10.1073/pnas.72.4.1314. Wagenseil JE, et al. J Cardiovasc Transl Res. 2012;doi:10.1007/s12265-012-9349-8. Zilocchi M, et al. AJR Am J Roentgenol. 2007;doi:10.2214/AJR.07.2370.

Grace Ehrbar was diagnosed with Vascular Ehlers-Danlos Syndrome, or VEDS, at 12 years old after a spontaneous bowel perforation. She is the only person in her family with VEDS. In this episode, Grace shares her experience with the bowel perforation when she was 12, as well as how her knowledge and attitude towards VEDS has … Continue reading Grace Ehrbar

Heidi Green's daughter, Isabella, was diagnosed with VEDS, or Vascular Ehlers-Danlos Syndrome, in 2021 when she was 8 years old. For years Heidi asked her pediatrician about problems Isabella had, but was told these things were likely due to her being born premature. When she pushed for genetic testing in 2021, she finally got the … Continue reading Heidi Green

When living with a rare disease, it would be easy to cope and become resigned to your fate, but this Mix Tape episode is about living fearlessly! Today, Mix Talent recruiter Emma Borreggine talks with Justin Borreggine, co-founder of DEFY Foundation. DEFY is a non-profit organization dedicated to raising awareness and research funding for Vascular Ehlers-Danlos Syndrome, or VEDS.

The Sunflower Conversations podcast - Vascular Ehlers Danlos Syndrome  with Erica BaldwinErica has Vascular Ehlers Danlos Syndrome (VEDS) – a genetic condition which wasn't diagnosed until adulthood.In this conversation we hear how the VEDS affects her body, in particular her internal organs, which caused her to have a major ruptured colon.During childbirth Erica's body struggled to cope and she explains how that led to obtaining a diagnosis. Despite the affect to her mental health, physical health and work life Erica is positive and an absolute pleasure to talk to.If you are experiencing problems discussed in this podcast contact your GP or Primary Care Provider if based in the US. For supportEhlers Danlos Support UKEhlers Danlos Society USHosted by Chantal Boyle and Lynn Smith, Hidden Disabilities Sunflower.Want to share your story? email conversations@hiddendisabilitiesstore.com

Ashley Rose Marisch was diagnosed with VEDS, or Vascular Ehlers-Danlos Syndrome, in 2017, after previously being diagnosed with FMD, or fibromuscular dysplasia. Her sister, Allyson Jane, ultimately continued researching their family's experience and history and pushed for the genetic testing for VEDS that led to Ashley Rose, Allyson Jane, and their mother, Dawn, to be … Continue reading Ashley Rose Marisch

As we continue our VEDS Action Month Series, I am so excited to welcome to the show, Katie Wright, Director of The VEDS Movement.  Katie Wright was diagnosed with VEDS, or Vascular Ehlers-Danlos Syndrome, in 2017. Her diagnosis provided the answer for the unexplained neck pain she had been dealing with for over a year, which turned out to be a dissected carotid artery.  Katie's diagnosis inspired her to get involved in advocacy for VEDS. She first started a YouTube channel, and then started a podcast, Staying Connected, featuring stories from other people with VEDS. In 2018, she got involved in research through work with the VEDS Collaborative, and in 2019 she joined The Marfan Foundation to launch a dedicated division for VEDS- now known as The VEDS Movement. Listen in as Katie shares all about The VEDS Movement and VEDS Action Month. Make sure you never miss out on our informative newsletters and new videos/podcasts go to www.onairadvocate.com today & sign up :)          #thevedsmovement #vedsactionmonth

Lyndell Fraser was diagnosed with VEDS, or Vascular Ehlers-Danlos Syndrome, in 2008 following a carotid artery dissection and major stroke. His mother passed away prior to his diagnosis due to complications from the September 11 world trade center attacks, but both Lyndell and his mom showed signs of VEDS prior to his dissection and stroke. … Continue reading Lyndell Fraser

Marfan Foundation Annual Conference 2019 The Marfan Foundation is currently celebrating 40 years of service to patients and families affected by Marfan Syndrome and other related conditions. We had the honor of participating in their 36th annual conference with a virtual discussion featuring 4 panelists who have each been significantly affected by rare disease.  Marfan syndrome is a genetic condition that affects the body's connective tissue.  Connective tissue helps to hold the body's cells, organs, and tissues together and also helps to control how the body grows and develops.  There are several disorders related to Marfan that cause people to struggle with the same or similar physical problems, and anyone affected by these conditions needs an early and accurate diagnosis. Please visit www.marfan.org for more information about Marfan, Loeys Dietz, and Vascular Ehlers Danlos Syndrome. Listen as Leah, Adrianna, Kristy and Micah share openly about their vastly different experiences but also their shared and wildly optimistic, fulfilling lives, despite the challenges and unpredictability of their conditions.

The Marfan Foundation is currently celebrating 40 years of service to patients and families affected by Marfan Syndrome and other related conditions. We had the honor of participating in their 36th annual conference with a virtual discussion featuring 4 panelists who have each been significantly affected by rare disease.  Marfan syndrome is a genetic condition that affects the body's connective tissue.  Connective tissue helps to hold the body's cells, organs, and tissues together and also helps to control how the body grows and develops.  There are several disorders related to Marfan that cause people to struggle with the same or similar physical problems, and anyone affected by these conditions needs an early and accurate diagnosis. Please visit www.marfan.org for more information about Marfan, Loeys Dietz, and Vascular Ehlers Danlos Syndrome. Listen as Leah, Adrianna, Kristy and Micah share openly about their vastly different experiences but also their shared and wildly optimistic, fulfilling lives, despite the challenges and unpredictability of their conditions.

Mike DeCoursey was diagnosed with VEDS, or Vascular Ehlers-Danlos Syndrome, in 2016 following the diagnosis of his son. The diagnosis came with an explanation for his father’s death at the age of 49 to a ruptured aortic aneurysm- something he had been told did not have a genetic cause. You can read more about his … Continue reading Mike DeCoursey

In the last episode, episode 126, we discussed pregnancy and aortic disorders as part of The CardioNerds Cardio-obstetrics Series. This episode brought to mind episode 76, where our colleagues from the Cleveland Clinic taught us about a woman named Lizzie Gasser, who at the young age of 27 tragically presented with postpartum pulmonary edema, found to have papillary muscle rupture, and was ultimately diagnosed with Vascular Ehlers Danlos Syndrome (VEDS) at autopsy. This case has been published in JACC Case Reports: CardioNerds Corner. Now, in this very special episode, we meet Lizzie Gasser, beyond her heart disease through the eyes of her loving husband, Todd Gasser. Her legacy underscores the importance of seeing our patients as people beyond their illness, in the context of their lives, values, and loved ones. This powerful discussion is led by Dr. Erika Hutt (cardiology fellow at the Cleveland Clinic) and Dr. Eunice Dugan,  (internal medicine resident at Johns Hopkins Hospital). Dr. Harry “Hal” Dietz (professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine and a leading authority on genetic aortopathies (including Loeys-Dietz Syndrome which carries his name). Audio editing by CardioNerds Academy Intern, Dr. Maryam Barkhordarian. This episode is brought to you in collaboration with the VEDS Movement. The VEDS Movement’s mission is to save lives and improve the quality of life of individuals with Vascular Ehlers-Danlos Syndrome (VEDS). By pursuing the most innovative research, educating the medical community, general public and affected individuals, and providing support to patients, families, and caregivers, The VEDS Movement, which is a division of The Marfan Foundation, charges forward and improves the outcomes for those living with VEDS. Individuals affected with VEDS can access medical webinars presented by the experts, join support groups, get involved in events and research, and donate by visiting TheVEDSMovement.org. Providers can also find resources, including CME opportunities, at TheVEDSMovement.org. CardioNerds Case Reports PageCardioNerds Episode PageCardioNerds AcademyCardionerds Healy Honor Roll CardioNerds Journal ClubSubscribe to The Heartbeat Newsletter!Check out CardioNerds SWAG!Become a CardioNerds Patron! Photos & Youtube videos featuring Lizzie Gasser and her family https://www.youtube.com/watch?v=W4sVuctrUZs&t=1s Video from the VEDS movement that Lizzie's family is interviewed in. Their interview is from 7m30s - 17m16s  https://www.youtube.com/watch?v=6CeXYnZHhbg Video of Lizzy's life life that a friend put together. Episode Guests Dr. Erika HuttDr. Eunice DuganDr. Harry “Hal” Dietz CardioNerds Case Report Production Team Karan Desai, MDAmit Goyal, MDDaniel Ambinder, MD

A lot to update everyone on...and I landed on this method as the best way to do that. 2021 for me has actually been pretty tough. 2020 was actually a lot easier if you can believe that. In this episode you'll learn why, and what I'm trying to do about it. That is, embarking on a major steps challenge to reach 4,000,000 by the end of the year, all for raising funds and awareness for the VEDS (Vascular EDS, or Vascular Ehlers-Danlos Syndrome) community.

answering your most in depth questions regarding this fatal / terminal illness --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app

Melinda’s 11 year-old daughter, Nataleigh, was diagnosed with VEDS, or Vascular Ehlers-Danlos Syndrome, after 8 1/2 years of medical issues that finally led to a genetics appointment. At first, she was diagnosed with hypermobile EDS, but Melinda pushed for a genetic test to rule out VEDS and she unexpectedly came back positive. Melinda shares what … Continue reading Melinda and Nataleigh

Jenae is a 35-year-old single, (widowed, divorced, mother of 2 boys. Andrew who was her late husband adopted at birth is 13 years old and he just finished the 7th grade. Joshuah is her miracle baby. Born at 32 weeks via c-section he is now a handsome thriving 100lb 10 year -old. He just finished the 4th grade. Jenae has a rare connective tissue disorder called Vascular Ehlers-Danlos Syndrome. There is a mutation in her collagen leaving the linings of her vessels, organs, and vascular system very thin and weak. At any moment an artery can rupture without cause. Her mother passed at the age of 39 because of this disease. In the medical world, I am a zebra. Zebras represent rare cases in medicine. She lives most days with chronic pain and fear often sneaks in and can leave her crippled by the what if's. But, greater is He who is in me than he who is in the world! 1 John 4:4 Please note* One week after the recording of this episode on September 11th, 2019 Janae went home to be with Jesus. We are rejoicing that she is with Jesus now and is completely free of pain. The Bringing Her Hope podcast is all about inspiriting women to live out the story that God is calling you too, friend Jenae did just that. This episode is full of transparency, vulnerability, and wisdom of what it looks like to live a life of purpose to live a life of legacy. If you would like to donate to the living expenses for Jenae's sweet boys you can do that here: https://www.gofundme.com/f/jenae-heart-for-her-boys?pc=fb_dn_postdonate_r&rcid=r01-156843764258-439656cb773e416d&utm_source=facebook&utm_medium=social&utm_campaign=fb_dn_postdonate_r&fbclid=IwAR1yKUT-9Ro5LnuvCCXnFmh1x62eQOJjjClbvNT3W0cXBPZy1NEaQB2_cKc

Chris was diagnosed in 1995 with Vascular Ehlers-Danlos Syndrome following his father’s passing. Chris was 22 when he lost his dad and found out he had vEDS. He is now 46 years old and has had two major knee surgeries, a ministroke (transient ischemic attack, or TIA), a fistula, multiple vein ruptures, and lives with … Continue reading Chris

Commentary by Dr. Valentin Fuster

Jane Ferguson:                Hello, and welcome to episode 26 of Getting Personal: Omics of the Heart, the podcast from Circulation: Genomic and Precision Medicine. I'm Jane Ferguson. It's March 2019, and I'm ready to spring into this month's papers, and apparently make really bad seasonal related jokes. Sorry all. Okay, let's get started.                                            First up, is a paper from Oren Akerborg, Rapolas Spalinskas, Sailendra Pradhananga, Pelin Sahlén and colleagues from the Royal Institute of Technology in Solna, Sweden entitled "High Resolution Regulatory Maps Connect Vascular Risk Variants to Disease Related Pathways." Their goal was to identify non-coding variants associated with coronary artery disease, particularly those with putative enhancers and to map these to changes in gene function. They generated genomic interaction maps using Hi-C chromosome confirmation capture, coupled with sequence capture in several cell types, including aortic and ethelial cells, smooth muscle cells and LPS stimulated THP-1 macrophages.                                            They captured over 25,000 features and they additionally sequenced the cellular transcriptomes and looked at epigenetic signatures using chromatin immunoprecipitation. They looked at regions interacting with gene promoters and found significant enrichment for enhancer elements. Looking at variants previously implicated in genome-wide associated studies, they identified 727 variants with promoter interactions and they were able to assign potential target genes for 398 GWAS variants.                                            In many cases, the gene associated with a particular variant was not the closest neighbor, highlighting the importance of considering chromatin lupane when assigning intergenic variants to a gene. They identified several variants that interacted with multiple promoters, influencing expression of several genes simultaneously.                                            Overall, this paper is a great resource for the community and takes many of these GWAS hits to the next level in starting to understand their biological relevance. They have a lot of supplemental material available online so it's definitely worth checking that out and taking a look for your favorite non-coding variant or chromosomal region to see if you can get some more information on it.                                            Next up, Pierrick Henneton, Michael Frank and colleagues from the Hopital Europeen Georges-Pompidou in Paris bring us "Accuracy of Clinical Diagnostic Criteria For Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Center." The authors were interested in determining the accuracy of the diagnostic criteria used to select patients for genetic testing for suspected vascular Ehlers-Danlos syndrome. This is because, despite the Villefrench criteria being recommended for diagnosis, the accuracy of the diagnostic criteria was never formally tested.                                            They selected 519 subjects, including 384 probands and 135 relatives who had been seen between 2001 and 2016. They assessed the sensitivity and specificity of the Villefrench classification. Almost 32% of tested individuals carried a pathogenic COL3A1 variant. The sensitivity of the Villefrench criteria was 79% with a negative predictor value of 87%. Symptomatic probands had the highest accuracy at 92% sensitivity and 95% negative predictive value. However, the specificity was just 60%.                                            Applying revised diagnostic criteria from 2017, it was actually less accurate because even though there was an increase in specificity, the sensitivity was reduced. Overall diagnostic performance was worst in individuals under 25 and neither set of diagnostic classifications allowed for early clinical diagnosis in individuals without a family history.                                            Our next paper is a Mendelian randomization analysis from Susanna Larsson, Stephen Burgess and colleagues from Uppsala University and the University of Cambridge. This paper entitled "Thyroid Function And Dysfunction In Relation to Sixteen Cardiovascular Diseases: A Mendelian Randomization Study" aims to understand how subclinical thyroid dysfunction relates to risk of cardiovascular diseases. They generated genetic predictors for thyroid stimulating hormone, or TSH, through a GWAS meta-analysis in over 72,000 individuals. They then analyzed the association of genetically predicted TSH with cardiovascular outcomes in large GWAS studies of atrial fibrillation, coronary artery disease, and ischemic stroke, and further assessed associations with phenotypes in the UK Biobank.                                            They found genetically decreased TSH levels and hyperthyroidism were associated with increased risk of atrial fibrillation but not other tested phenotypes. Overall, these data support a causal role for TSH and thyroid dysfunction in atrial fibrillation but not in other cardiovascular diseases.                                            The next paper is also a Mendelian randomization analysis from members of the same group, Susanna Larsson, Stephen Burgess and colleagues published "Resting Heart Rate and Cardiovascular Diseases: A Mendelian Randomization Analysis." In this letter, they describe a study of the relationship between genetically increased resting heart rate and cardiovascular diseases. They constructed genetic predictors of resting heart rate and similarly to the previous study, used that as an instrument to test for associations with coronary artery disease, atrial fibrillation, and ischemic stroke in the cardiogram, atrial fibrillation, and mega stroke consortia respectively.                                            They also looked at 13 CVD outcomes in the UK Biobank. They found that genetically predicted heart rate was inversely associated with atrial fibrillation with suggestive evidence for an inverse association with ischemic, cardioembolic, and large artery stroke. The inverse association with AF was replicated in the UK Biobank, supporting previous reports linking resting heart rate to atrial fibrillation.                                            Next up, we have a letter from Robyn Hylind, Dominic Abrams, and colleagues from Boston Children's Hospital. This study entitled "Phenotypic Characterization of Individuals with Variants in Cardiovascular Genes in the Absence of a Primary Cardiovascular Indication For Testing" describes their work to probe incidental findings for potential cardiovascular disease variants in individuals undergoing clinical genomic sequencing for non-cardiac indications.                                            They included 33 individuals who had been referred as carrying variants that were indicated as being associated with cardiovascular disease in primary or secondary findings. The variants were reclassified using the 2015 ACMG guidelines, and then were compared to the original classification report obtained at the time of sequencing.                                            Of 10 pathogenic or likely pathogenic variants, only four of these were actually considered pathogenic or likely pathogenic after reclassification under the 2015 ACMG criteria, and none of these were associated with a cardiac phenotype. None of the variants could be definitively linked to any cardiac phenotype.                                            The costs ranged from $75 to over $3700 per subject with a cost per clinical cardiac finding estimated at almost $14,000. This study highlights the relatively high cost and low yield of investigating potential cardiovascular variants and prompts consideration of how to implement strategies to ensure that variant reporting maximizes clinical return but minimizes the financial, time, and psychological burdens inherent in lengthy follow-ups.                                            The next paper is a clinical letter from Serwet Demirdas, Gerben Schaaf and colleagues from Erasmus University Rotterdam  entitled "Delayed Diagnosis of Danon Disease in Patients Presenting with Isolated Cardiomyopathy." They report on a clinical case of a 14-year-old boy presenting with cardiac arrest due to ventricular fibrillation during exercise. Echocardiography and MRI showed cardiac concentric hypertrophy, particularly in the left ventricle. The boy's mother had died at age 31 after being diagnosed with peripartum dilated cardiomyopathy.                                            Sequencing in the boy revealed a variant in the LAMP2 gene, known to be responsible for Danon disease, which typically presents as cardiomyopathy, skeletal myopathy, and intellectual disability. This same LAMP2 variant was found in preserved maternal tissue, but not in other family members. In this case, there was no evidence of muscle or intellectual abnormalities. However, sequencing had allowed for this diagnosis of Danon disease in the child and posthumously in his mother. This study demonstrates a utility of using extended gene panels in clinical sequencing to aid in diagnosis and to inform management of patients.                                            The next letter is from Alvaro Roldan, Julian Palomino-Doza, Fernando Arribas and colleagues from University Hospital of the 12th of October in Madrid and is entitled "Missense Mutations in the FLNC Causing Familial Restrictive Cardiomyopathy: Growing Evidence." This report also highlights clinical cases. In this case, two individuals with variants in the filamin C, or FLNC gene. Two unrelated individuals presenting with restricting cardiomyopathy were sequenced and found to carry two different variants in the FLNC gene, one of which had not been previously reported.                                            This expands the number of reported cases of filamin C mutations in restrictive cardiomyopathy and highlights the need for further study of the pathophysiology linking filamin C to cardiac function.                                            Finally, we have some correspondence related to a previously published article. In the letter, Christopher Chung, Briana Davies, and Andrew Krahn comment on the recently published article from Jody Ingles on concealed arrhythmogenic right ventricular cardiomyopathy in sudden unexplained cardiac death events. In that paper earlier this year, they had reported on four cases of individuals presenting with cardiac arrest or sudden cardiac death, attributable to concealed arrhythmogenic right ventricular cardiomyopathy with underlying mutations in the plakophilin-2 gene. In the letter from Chung et al, they report similar findings where individuals may first experience electrical phenotypes before manifesting structurally detectable disease. Indeed, in their response to this letter, Ingles et al report identification of an additional case since publication of their original article.                                            Taken together, this further strengthens the case for development of additional strategies to identify at risk individuals and predict and prevent disease events.                                            That's all for the papers for March 2019. Go online to check them out and follow us on Twitter @Circ_Gen to see new papers as they are published online. Thanks for listening. Until next month everyone. This podcast was brought to you by Circulation Genomic and Precision Medicine and the American Heart Association Council on Genomic and Precision Medicine. This program is copyright American Heart Association 2019.  

As a twist, in this episode my friend Becca asks me about my story! If you want to check out what I’ve been up to, you can find links to my youtube and website below: youtube.com/translucentone translucentone.blog Don’t forget to subscribe to this podcast to hear more patient stories with Vascular Ehlers Danlos Syndrome! If … Continue reading My Story

Brook had years of complications that pointed towards vEDS, or Vascular Ehlers Danlos Syndrome, but it wasn’t until his 40s that he was finally diagnosed. He has been through so much and his story is inspirational! Stay tuned for more episodes on the last Sunday of every month!  

Heather was diagnosed with Vascular Ehlers Danlos Syndrome, the same autoimmune disease her mom died from. Heather began to grieve the loss of the life she expected to live and was afraid of how the disease will impact her family, but realized she had the opportunity to make sustainable choices and manage her disease. As her perspective shifted, she started exploring what it means to live with courage. Heather says we need to talk about, "the type of courage when you put two feet on the floor on a morning when you don't like your story." Heather's answers to the fun questions: • What are you loving right now? Chocolate chip cookie dough paired with fruit - bananas or apples:) • What’s your favorite food/meal/snack? My grandma's chicken and pastry and the 14 vegetables that go with it • What are you doing to take care of yourself? Daily power naps or at least daily resting moments  • What are you doing to be brave? Conquering my fear of facebook live, lol! Connect with Heather: BLOG: therescuedletters.comFACEBOOK: facebook.com/rescuedletters TWITTER: twitter.com/rescuedletters INSTAGRAM: instagram.com/rescuedletters Connect with Becky: BLOG: BeckyLMcCoy.com FACEBOOK: facebook.com/BeckyLMcCoy TWITTER: twitter.com/BeckyLMcCoy INSTAGRAM: instagram.com/BeckyLMcCoy PINTEREST: pinterest.com/BeckyLMcCoy NEWSLETTER: BeckyLMcCoy.com/email  Share your Sucker Punched story at BeckyLMcCoy.com/Submissions Please subscribe to and rate this podcast to help others find Sucker Punched. NOTE: Sucker Punched is the podcast formerly known as Stories of Unfolding Grace