Diagnosis and Treatment of Aortic Dissection in the ER (Parts 1 and 2) 1:42-2:31 When we think of acute aortic syndromes aortic dissection is the most classic and is responsible for 80 to 90 percent and in this cross section of the aortic …

Diagnosis and Treatment of Aortic Dissection in the ER (Parts 1 and 2) 0:03-1:40 Hello, my name is Alan Braverman and today we'll discuss what is aortic dissection and who is at risk. This is part of the aortic diseases awareness week lect…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:06:12-1:12:10 So last question because we're running up on time and this is actually a question I've been struggling with as well. Knowing that testing p…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:01:49-1:06:09 So someone is asking your thoughts again on the variability within one type of Loeys-Dietz-like syndrome if you think it's more likely to b…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 58:16-1:01:46 So say that there is someone who has an aortic root or ascending aneurysm, there's no known family history, their genetic testing has thus fa…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 56:57-58:04 What type, this is kind of a clinical question, but we'll take a detour. Is there any specific type of eye muscle disorder present in LDS, spec…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 52:30-55:52 Can the mutation happen anytime in life or is it from birth only? I have a son with LDS2 and a healthy older daughter. My son is de novo so the…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-52:27 This is a tough one. I'm trying to figure out. I don't think it's answerable but what are, what are statistical chances for VUS within TGFBR1 g…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 48:25-49:46 For, families that have like multiple generations of Loeys-Dietz syndrome, someone is asking a question that in the third generation it appears…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-48:22 Can a parent with one type of Loeys-Dietz syndrome, perhaps type four, pass down a different type of LDS to their kids? MacCarrick: 親のLDS型と…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 42:38-46:43 So just curious Dr. Dietz, your thoughts on like who makes a good candidate for moving forward with whole exome or what kind of family like if …

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 39:36-42:15 Can siblings be very different in their LDS journey and does being male or female make a marked difference? This person has one person, a male …

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 38:00-39:34 Is there a way to find out if a family member that has already passed had the gene? We've had some family members that have had similar health …

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 34:01-37:57 Should relatives who show characteristics of Loeys-Dietz syndrome including aortic dilation yet don't test positive for the family's identified…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 31:27-33:00 So there was one last question about what's new in terms of genetic aortopathies and I was just gonna touch briefly on one kind of syndromic ne…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 29:59-31:25 In our cohort just a word on two specific variants that we've seen that present with very aggressive childhood disease. 我々が研究対象としてい…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 28:47-29:58 In terms of variability of allergic and GI disease, this has been observed in types 1 and 2 Loeys-Dietz syndrome. It's really an unknown right …

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 27:42-28:46 You know, some other places where you have noticed some variability that has helped us to kind of figure out different guidelines to take care …

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 24:51-27:41 So I just thought I'd put up some slides that go through the patients in the initial publications for Loeys-Dietz syndrome, so you can see how …

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 21:20-24:50 So in terms of variability we do know that there are variable systemic manifestations that are suggestive of Loeys-Dietz syndrome. Things that …

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 19:35-21:18 So in terms of Loeys-Dietz syndrome you might all be familiar with the TGF-beta signaling pathway. This is the pathway where Loeys-Dietz gene d…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 18:48-19:24 So Loeys-Dietz syndrome is an autosomal dominant condition, which means that any person that has a gene change in one of Loeys-Dietz genes each…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 16:57-18:44 So whenever we do a genetic test there can be three answers that we get: it could be clearly negative so sometimes variants are found that are …

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 15:50-16:56 So in addition to panel testing for aortopathy some people get, come to a genetic diagnosis because they have a testing technology available th…

What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 12:53-15:48 My name is Gretchen MacCarrick. I'm a genetic counselor at Johns Hopkins. I've been with their connective tissue aortopathy group for about 19 …

Marfan Syndrome Management: Back to Basic 56:44-59:14 How common are is, how common is it for a pediatric patient to require aortic surgery and what does the measurement and should people worry about that? Eileen:お子さんが大動脈手術を受け…

Marfan Syndrome Management: Back to Basic 54:40-56:43 Can we go back to the abdominal aortic aneurysm for a second? How does that affect pregnancy, what would be your recommendation for that if somebody has an aortic aneurysm, an abdominal…

Marfan Syndrome Management: Back to Basic 52:13-53:30 Dr. Malaisrie, are there protocols for aneurysms in the ascending aorta above the root. Is that different from aor, aneurysms at the root? Maisrie先生に質問です。大動脈基部の先にある上…

Marfan Syndrome Management: Back to Basic 50:56-52:11 Dr. Morris, is there any way of knowing how tall a child will be by the time they finish growing? Morris先生に質問です。子どもの成長が止まるまでに身長がどのくらい伸びるか知る方法はあり…

Marfan Syndrome Management: Back to Basic 49:41-50:32 Over to Dr. Malaisrie, typically how long are you in the hospital for aortic surgery if it's prophylactic, you know, and then how long is the recovery after once you go home assuming th…