There are several genetics diagnoses that can present with complete heart block. However, complete heart block in the context of a family history of muscle weakness and stiffness (myotonia) can be indicative of myotonic dystrophy. Myotonic dystrophy is the most common inherited neuromuscular disorder presenting in adults. This patient has classic myotonic dystrophy type 1 (DM1), which is a multi-system disorder inherited in an autosomal dominant manner. It is characterized by distal muscle weakness, facial weakness, cataracts, and diabetes. The cardiac manifestations bring this patient to attention, but an analysis of the family history is what leads down the correct clinical path.

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

COST: $20.00
click here for pricing outside the United States of America

OVERALL LEARNING OBJECTIVES:

At the conclusion of this case study, participants should be able to:

1. Recognize cardiac manifestations in the context of myotonic dystrophy,
2. Evaluate a family history to narrow a list of differential diagnoses,
3. Analyze a family history to identify other at-risk individuals within the family, and
4. Use family history information to guide genetic testing and screening recommendations.

back to the top

MONICA GIOVANNI, MS Course Co-Director

Monica A. Giovanni is a genetic counselor for the Adult Genetics Clinic at Brigham and Women’s Hospital. In this role, she provides counseling and support for individuals with diagnosed genetic conditions, individuals with a family history of genetic disease, and preconception counseling for individuals planning pregnancy. Her clinical interests include the care of patients with disorders of connective tissue, maternal PKU, and lysosomal storage diseases. She also serves as the training coordinator for the Adult Genetics Clinic at Brigham and Women’s Hospital. She is an editor for the forthcoming McGraw-Hill publication the Clinical Genomics Handbook. DISCLOSURE:

RAJU KUCHERLAPATI, PHD Course Co-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). DISCLOSURE:

NEAL LAKDAWALA, MD Course Co-Director

Neal Lakdawala, M.D. is a cardiologist at Brigham and Women’s Hospital and research fellow at Harvard Medical School, both in Boston. He received his medical degree from the University of Texas HSCSA where he graduated AOA. He completed internal medicine residency at Columbia University Medical Center in New York City where he was selected as chief resident. His cardiology fellowship training was at Brigham and Women’s Hospital in Boston. Dr. Lakdawala’s clinical interests are in heart failure, cardiac transplantation, echocardiography and monogenic cardiovascular diseases. His research has been focused on determining the mechanisms of sarcomeric hypertrophic and dilated cardiomyopathy through clinical studies. DISCLOSURE:

back to the top

ANTHONY AMATO, MD Reviewer

Anthony A. Amato, M.D. graduated from Case Western Reserve University in 1982 and University of Cincinnati where he obtained his M.D. degree in 1986. He did his internal medicine internship and neurology residency at Wilford Hall Medical Center (WHMC) in San Antonio and his neuromuscular fellowship Ohio State University with Jerry Mendell, M.D. Since August 1999 he has been the Chief of the Neuromuscular Division and Director of the Clinical Neurophysiology Laboratory Brigham and Women’s Hospital (BWH). He is now the vice-chairman of the Department of Neurology at BWH. He is a Professor of Neurology at Harvard Medical School. He initiated and directed the integrated BWH-MGH Clinical Neurophysiology Fellowship program which is ACGME. In 2006, he started an ACGME-approved Neuromuscular Medicine Fellowship (6 new fellows per year) that encompasses BWH, MGH and Boston Children’s Hospital. Dr. Amato has been a principle investigator or co-investigator in many clinical trials sponsored by the NIH, FDA, or industry in various neuromuscular disorders. He is a founding member of the Muscle Study Group. He is an Associate Editor for Muscle & Nerve and on the Editorial Board for Neurology. He has authored or co-authored 110 journal articles, 47 book chapters, and 3 books. DISCLOSURE:

PENNY GREENSTEIN, MD Reviewer

Dr. Greenstein is an Assistant Professor of Neurology, Harvard Medical School and Director of the Neurogenetics Disease Clinic at Beth Israel Deaconess Medical Center. She did a fellowship in Human Genetics following her Neurology Training at the University of Washington in Seattle. The neurogenetics clinic sees all patients who have family history of neurological disease. Dr. Greenstein has a special interest in spinocerebellar degenerations and Huntington’s Disease Type II. DISCLOSURE: Reported no relevant financial relationships with commercial entities.

SEWARD RUTKOVE, MD Reviewer

Dr. Rutkove is Associate Professor of Neurology, Harvard Medical School and Chief of the Division of Neuromuscular Disease at Beth Israel Deaconess Medical Center. His main research focus is in advancing the field of electrical impedance myography, a technique for evaluating muscle and nerve diseases that relies upon surface application and measurement of high-frequency electrical current. DISCLOSURE:

back to the top

NUMBER OF CREDITS: 1 

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

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

Upon completion of the course you will get a certificate via e-mail within 2 weeks.

Click the image to view a sample of the certificate

back to the top