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Sunday, February 27, 2011 8:30 a.m., CC 007 A/B
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- The Cardiovascular Pathology of Genetic Disorders: When a Good Gene Goes Bad
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Moderators:
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Michael C. Fishbein, University of California, Los Angeles,
CA and
Richard N. Mitchell, Brigham and Women's
Hospital/ Harvard Medical School, Boston, MA
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Disclosure:
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In accordance with ACCME guidelines regarding disclosure, the USCAP policy requires that faculty members who have a significant financial or other relationship with a commercial company, entity, or service (which will be discussed in this Symposium) must disclose this to attendees. The Academy also requires that speakers disclose any products that are not labeled for the use under discussion. The speakers listed below have indicated they have nothing to disclose.
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| 8:30 |
The Genetics of Atherosclerosis - Iftikhar J. Kullo, Mayo Clinic, Rochester, MN |
| 9:00 |
The Genetics of Cardiomyopathy
- Christine Seidman, Brigham and Women's Hospital and Harvard
Medical School, Boston, MA |
| 9:30 |
Single Gene Disorders in Congenital Heart Disease
- John Jeffries, Baylor College of Medicine, Houston, TX |
| 10:00 | Break |
| 10:30 |
Genetic Disorders Affecting the Conduction System
- Jeffrey Saffitz, Beth Israel Deaconess Medical Center and Harvard
Medical School, Boston, MA |
| 11:00 |
Single Gene Disorders of the Aortic Wall
- Marc Halushka, Johns Hopkins Medical School, Baltimore, MD |
| 11:30 |
DISTINGUISHED ACHIEVEMENT AWARD LECTURE:
Arrhythmogenic Right Ventricular Cardiomyopathy: From Autopsy to Genes and Transgenic Mice
- Gaetano Thiene, Universita' Degli Studi di Padova, Italia |
The sequencing of the human genome and progressively powerful analytical tools are beginning to unlock the genetic underpinnings of a host of human diseases. This is certainly true in the cardiovascular system, where pathologies previously designated as idiopathic or sporadic are increasingly linked to unique genetic defects. While an understanding of genetic disorders clearly impacts the development of therapies, these diseases also present an important challenge to practicing pathologists to recognize their morphologic manifestations, and provide the appropriate molecular evaluation. Not only will patients benefit from improved diagnostic information, but so too will their related families. The Education Committee of the SCVP has therefore selected this topic to present general classes of genetic disorders categorized by the tissues affected: i) arteries in atherosclerosis (e.g., familial hypercholerterolemia, Tangier disease, homocystinuria); ii) myocytes in cardiomyopathy (e.g., hypertrophic and dilated); iii) cardiac development in congenital disorders (valve pathology, ASD, Holt-Oram, Noonan syndrome, etc.) iv) conduction system(e.g., Brugada, long QT, Naxos); and v) the aorta in aneurysmal disease (marfan, Ehlers-Danlos, Loeys-Dietz, etc.). The session will be highlighted by the recipient of the SCVP Distinguished Achievement Award speaking on the history and pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC).

The objectives of the session are to: 1) Present organizing principles for understanding the pathogenesis of genetic (mostly single-gene) cardiovascular disorders, and to highlight specific disorders that merit recognition and follow-up when encountered in pathologic practice. |
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