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Genetics: Marfan Syndrome

Course Description | Faculty | Accreditation | General Information

Course Description

Acknowledgement: This online activity is supported by educational grants from Celera and the Applera Charitable Foundation.

This web-based CME activity provide participants with an up-to-date overview of Marfan syndrome in a case-based format. It focuses on the recognition and clinical management of individuals with Marfan syndrome and the differentiation with other overlapping conditions. The use of molecular genetic testing in clinical situations is discussed.

Original Release: 6/17/2009
Most Recent Update: 6/22/2010
Termination Date: 6/30/2012

NUMBER OF CREDIT HOURS: The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

COST: COST: $25.00


  1. Improve diagnostic skills
  2. Update knowledge


  1. Recognize the clinical features of Marfan syndrome
  2. Know the clinical diagnostic criteria for Marfan syndrome
  3. Understand the inheritance pattern and causative gene mutation for Marfan syndrome
  4. Understand the clinical uses of molecular genetic testing for Marfan syndrome


Registrants participate in the learning process by answering interactive multiple choice questions that are dispersed throughout the case presentation. You must answer a question correctly in order to continue through the course. If you answer a question incorrectly, you will be prompted to try again.

In order to earn credit, physicians must complete the entire educational activity before the termination date (see above). Non-physicians may register for the course but are not eligible for AMA PRA Category 1 Credits™. Instead, non-physicians will earn a certificate of participation after successfully completing the course before its termination date.


This internet enduring material is a case-based, interactive presentation comprised mainly of text, interactive questions, and images. A variety of media, including video clips, audio clips, and Flash animation, may be presented. Links to any necessary plugins are provided when necessary, but no plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.

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Course Director
Raju Kucherlapati, Ph.D. is the Scientific Director of the Harvard Medical School-Partners HealthCare Center for Genetics and Genomics (HPCGG) and the Paul C. Cabot Professor of Genetics and Professor of Medicine at Harvard Medical School (HMS). He is the first Scientific Director of HPCGG.

Dr. Kucherlapati was a member of the consortium to map and sequence the human and mouse genomes. His research interests are in the areas of discovery and characterization of human disease genes using a combination of human and mouse genetic and genomic approaches. He was a member of the National Advisory Council for Human Genome Research at the National Human Genomics Research Institute, co-chair of the steering committee for the National Cancer Institute’s Mouse Models for Human Cancer Consortium and served on the editorial board of the New England Journal of Medicine and was editor in chief of the journal Genomics. He is a fellow of the American Association for the Advancement of Science (AAAS).

Reported no relevant financial relationships with commercial entities

Course Director
Michael Singh, MD is the co-director of the Adult Marfan Sydrome/Connective Tissue Disorder and Aortic Disease program of the Cardiovascular Genetics Service at Children's Hospital Boston and Brigham & Women’s Hospital as well as the inpatient director of the Boston Adult Congenital Heart (BACH)/Pulmonary Hypertension service. He is a staff cardiologist at the Brigham & Women’s Hospital and Children's Hospital Boston and instructor at Harvard Medical School. He completed his M.D. at Loma Linda University Medical Center in California; Internal Medicine/Pediatric residency at the Medical College of Ohio; Adult Cardiovascular Disease fellowship at Baystate Medical Center-Tufts University of Medicine in Massachusetts; and Marfan Syndrome/Connective Tissue Disorder and Adult Congenital Heart Disease fellowships at Children's Hospital Boston and Brigham & Women’s Hospital.

Reported no relevant financial relationships with commercial entities

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Dr. Sanjiv Chopra is Professor of Medicine at Harvard Medical School. He is also the the James Tullis Firm Chief in the Department of Medicine and a Senior Consultant in Hepatology at the Beth Israel Deaconess Medical Center, Boston. He served as Faculty Dean for Continuing Education at HMS for 12 years. Dr. Chopra has more than 150 publications and seven books to his credit. Dr. Chopra is Editor-in-Chief of the Hepatology Section of UpToDate, the most widely used electronic textbook in the world subscribed to by more than 850,000 physicians in 149 countries. He is also the recipient of numerous awards and accolades. For a complete bio, click here.

Scherring-Plough: Speakers' bureau Roche: Speakers' bureau UpToDate: Royalty income

Eli V. Gelfand is an Assistant Professor of Medicine, Harvard Medical School and Director of Ambulatory Cardiology and the Beth Israel Deaconess Medical Center in Boston. He is a graduate of University of Wisconsin Program in Pharmacology and Toxicology and of the University of Illinois College of Medicine, Class of 2000. He completed his Internal Medicine Residency at Harvard Medical School - Brigham and Women’s Hospital and Fellowship in Cardiovascular Diseases at Beth Israel Deaconess Medical Center. He followed this with advanced training in cardiovascular imaging, including asult echocardiography and cardiovascular magnetic resonance imaging.

Dr. Gelfand is an active clinician, whose wide-ranging interests span the entire spectrum of cardiovascular disorders, from coronary artery disease to valvular heart disease and arrhythmia. He has published in diverse areas related to acute coronary syndromes and valvular heart disease. His current research interests are in clinical application of novel imaging modalities such as cardiovascular MRI, as well as three-dimensional and intracardiac echocardiography to diagnosis and minimally-invasive management of valvular abnormalities and structural heart disease.

Dr. Gelfand serves as the Associate Director of the Cardiovascular Fellowship at Beth Israel Deaconess Medical Center. He is a past recipient of the Fellow Teaching Award, as well as of the Stafford Cohen Faculty Development Award.

Reported no relevant financial relationships with commercial entities.

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Course Planners
Erin K. Harvey, MSc, CGC, was the Assistant Director of Education for Partners Healthcare Center for Personalized Genetic Medicine (PCPGM) from 2008 to 2011. She is a board-certified genetic counselor and has worked with a wide range of primary healthcare professionals in the development of genetics-related, case-based continuing medical education (CME). In addition to being the series editor for PCPGM’s genetics CMEs, she coordinated an advanced human genetics course for Harvard Medical School’s Clinical Genetics Residency training program. In 2011, she accepted a position with Genzyme as a Scientific Communications Principal for the Personalized Genetic Health division. Prior to joining PCPGM, Ms. Harvey spent five years with the National Coalition for Health Professional Education in Genetics, and was seconded for one year to the United Kingdom to help a similar organization there – the National Genetics Education and Development Centre – create genetics resources for the UK’s nationalized medical education curriculum. Ms. Harvey received her master’s degree in science in 2003 from the Johns Hopkins University/National Institutes of Health joint genetic counseling training program. She received a B.A. in English Writing from St. Edward’s University in Austin, Texas in 1993, and worked as a journalist prior to pursuing a career in the biological sciences.

Reported no relevant financial relationships with commercial entities

Andi Long directs the Department of Continuing Education’s Distance Learning group, which offers a variety of online continuing medical education programs to health care professionals around the world. Andi develops strategies for new pilot programs and systematically rolls out new distance learning initiatives and has a leadership role in IT planning and other online processes for HMS DCE. She oversees the day-to-day operations of each distance learning activity and ensures ACCME compliance across all enduring programs. She has had the privilege of working with hundreds of Harvard Medical School Faculty members to develop high-quality, engaging online programs that physicians in more than 170 countries have taken part in. Andi earned her Ed.M. in Technology, Innovation, and Education from Harvard Graduate School of Education and graduated from Bridgewater State College with a degree in English. Her professional interests focus on teaching and learning with new technologies and online course development.

Reported no relevant financial relationships with commercial entities

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The Harvard Medical School is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

Within 2 weeks of completing the course, you will receive your certificate via email.

Click the image to view a sample of the certificate

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General Information


Any computer running Windows, Mac OS, or Unix machines are supported.

Internet Connection
Your computer should be configured to access the Internet. A high speed internet connection may be required to view some of the large multimedia files.

Firefox or Internet Explorer 5.5 or higher are recommended. JavaScript and cookies must be enabled.

Some of the multimedia resources in this course require Apple Quicktime, RealMedia, or a Flash player. You will be prompted to download the appropriate plugin when necessary. No plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.


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