Familial Dilated Cardiomyopathy (DCM) is defined by the presence of either DCM or unexplained death (before the age of 30) in two or more closely related family members. The estimate of familial prevalence is influenced by the population which is studied and which methods are used to screen for cardiomyopathy. However, if pedigree construction is combined with serial screening echocardiography on all first degree relatives, then approximately 25-45% of idiopathic DCM will be categorized as familial. This is the basis for the current clinical recommendations to take a careful family history from all probands and screen first degree relatives with echocardiography. This case highlights issues in familial dilated cardiopathy such as clinical variability and incomplete, age-dependant penetrance.

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
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OVERALL LEARNING OBJECTIVES:

1. Recognize clinical findings in individuals with Dilated Cardiomyopathy (DCM).
2. Appreciate the spectrum of extra-cardiac clinical findings that can be present.
3. Anticipate clinical variability and reduced penetrance in DCM patients and families.
4. Understand the genetic basis of DCM.
5. Appreciate non-genetic causes of DCM.

CLINICAL LEARNING OBJECTIVES:

1. Appreciate the spectrum of extra-cardiac clinical findings that can be present.
2. Anticipate clinical variability and reduced penetrance in DCM patients and families.

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BIRGIT FUNKE, PHD, FACMG Course Co-Director

Dr. Funke is a Clinical Molecular Geneticist at the Laboratory for Molecular Medicine (LMM) at Harvard Medical School. She received her Ph.D. in molecular genetics from the University of Würzburg, Germany and then moved to New York in 1996 where she worked as a PostDoc on the molecular etiology of 22q11 deletion syndrome. She continued this work as a Junior Faculty member at Harvard Medical School where she also trained in Clinical Molecular Genetics. Dr. Funke joined the LMM in 2006 and obtained her ABMG Board certification in 2007. She currently oversees genetic testing and test development in the area of cardiovascular disease. 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:

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DANIEL JUDGE, MD Reviewer

Daniel P. Judge, MD is an Associate Professor of Medicine in the Division of Cardiology at the Johns Hopkins University School of Medicine. He is Medical Director of the JHU Center for Inherited Heart Disease. Dr. Judge received his MD from the University of Pennsylvania, followed by both residency training in Internal Medicine and fellowship training in Cardiology at Johns Hopkins. In addition to teaching and taking care of patients with inherited forms of heart disease, his laboratory focuses on the molecular genetics and pathophysiology of Marfan syndrome and familial forms of cardiomyopathy. DISCLOSURE:

RONALD KANTER, MD Reviewer

Ronald J. Kanter, MD is a Professor of Pediatrics in the Division of Cardiology at Duke University School of Medicine. He is Director of Pediatric Electrophysiology. Dr. Kanter received his MD from Vanderbilt University, followed by residency training at the University of Florida and fellowship training in Pediatric Cardiology at the University of Florida and Childrens Hospital Boston. Dr. Kanter focuses on children and adults having congenital heart disease and arrhythmias, and particularly on ablative therapies for tachyarrhythmias. DISCLOSURE:

NANCY MENDELSOHN, MD Reviewer

Dr. Mendelsohn is the Medical Director in the Division of Medical Genetics at the Children’s Hospital and Clinics of Minnesota, St. Paul & Minneapolis. She is also a staff geneticist at Children’s Hospital and Clinics of Minnesota, St. Paul & Minneapolis, Gillette Children’s Specialty Healthcare, St. Paul, MN, and Hennepin County Medical Center, Minneapolis, MN. In addition to her clinical work, Dr. Mendelsohn is also an Assistant Professor in the Division of Medical Genetics, Department of Pediatrics, at the University of Minnesota. DISCLOSURE:

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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

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