Information about Dilated Cardiomyopathy and Our Research Project
Information for Patients & families
Find resources for individuals and families with dilated cardiomyopathly (DCM) that is known or suspected to be idiopathic and/or familial. We hope you find this information useful.
DCM Frequently Asked Questions
The heart is made out of muscle and works as a blood pump, providing blood to the body. The heart enlargement (dilation) occurs because the heart muscle becomes weakened. When the heart enlarges as a result of muscle weakening, the pumping action of the heart becomes weaker also. As a result, less blood than normal may be pumped to the body, especially during vigorous activity.
Heart failure (also called congestive heart failure), is a common symptom of DCM. When heart failure is present, the heart cannot pump enough blood to the body. Heart failure does not mean that the heart “stops suddenly” as the words imply. Instead, heart failure leads to shortness of breath with activity, fluid collection (edema) in the feet and legs, difficulty sleeping flat in bed (needing to prop oneself up on several pillows), and at times awakening in the middle of the night short of breath and needing to sit up to the edge of the bed for several minutes to catch one’s breath. DCM does not always lead to heart failure, although in their late stages, most people with DCM begin to have some symptoms of heart failure.
In DCM, irregular and/or fast heart rhythms (arrhythmia) can also occur. Some such rhythms cause palpitations. Palpitations are the sense of one’s heart “skipping a beat,” or beating too fast, or beating very hard, and can last from seconds to minutes, and even, occasionally, hours. With rapid heart rates, individuals may feel dizzy or lightheaded, or experience shortness of breath with minimal activity.
A more severe symptom of arrhythmia is called syncope. Syncope is the medical term for complete loss of consciousness. Other common terms used for syncope include “a blackout spell” or “a fainting spell.” Because syncope may be caused by more dangerous arrhythmias, it always requires immediate medical attention.
Sudden death, or sudden cardiac death, is the term used to describe syncope resulting from an arrhythmia that is accompanied by full cardiac arrest (loss of heart rate, blood pressure, and breathing). If someone suffers an episode of sudden cardiac death, the patient must undergo successful cardiopulmonary resuscitation to survive. Although, at times, it is possible that the lethal arrhythmia may stop by itself and the patient may regain normal a normal heart rate, blood pressure and breathing. If a patient survives an episode of sudden cardiac death, emergency medical treatment is needed to evaluate, treat and prevent future episodes from occurring.
Peripartum cardiomyopathy (PPCM) or pregnancy-associated cardiomyopathy (PACM) are terms used to describe the onset of DCM of unknown cause that occurs during pregnancy or the first several months in the post-partum period.
We have contributed to the scientific literature regarding PPCM. Our group has long suspected a genetic component to PPCM. We published a scientific paper in May 2010, entitled “Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy” from PPCM cases from our FDC database that showed that women with PPCM carry mutations in DCM genes. In that study, we found 45 cases of PPCM in our database, and of those, 19 cases had research testing for known DCM genes. Six of the 19 women with PPCM carried mutations in genes known to cause DCM; three of the six had familial disease (FDC). We concluded that PPCM has a genetic basis, like DCM and FDC, in some cases.
Recommendations. Based on these findings, we recommend that anyone diagnosed with PPCM or PACM follow the same Screening Recommendations for DCM: pregnant women who have a first degree relative with idiopathic DCM should be evaluated for the possibility of DCM onset in pregnancy or soon after delivery. Similarly, first degree relatives of women with PPCM/PACM should undergo cardiovascular screening.
Please join our research effort. We have not yet proven that all of PPCM or PACM results from genetic cause, but that is our hypothesis. We urge anyone with a history of PPCM who is willing to participate in our research program to contact us.
Dilated Cardiomyopathy Genetics
The Genetics of Dilated Cardiomyopathy
Our recent data suggests that apparently sporadic/simplex DCM (idiopathic DCM found in only one person in a family), also has a genetic basis. We propose that IDC, whether familial or sporadic, results from different degrees of genetic influence.
It is also possible that genetic factors play a role in DCM caused by coronary artery disease, infections or drug exposures.
Unfortunately, right now there is no way of knowing how, when or with which symptoms this condition will present, or begin, in a given family member. Therefore, all first degree relatives (parents, children, siblings) of individuals with IDC should be screened. See your doctor if you are concerned that you are experiencing any of the symptoms of cardiomyopathy or heart failure that have been mentioned here.
Options for Participation
At this time, there are two categories of participants in the DCM Research Project:
What happens to my blood sample? Your blood sample is sent overnight to our lab. We use the blood to prepare DNA (genetic material), which is examined for changes in genes that may cause DCM.
Clinical Database. We store our clinical, genetic, and pedigree data in a secure database. Unique and confidential identifiers have been designed for every individual in this project.
Assurance for the Protection of Human Subjects in Research Studies. We have been and continue to be fully compliant will regulations and guidelines from the NIH, Oregon Health & Science University (193-2007), the University of Miami (2007-2012) and the Ohio State University (2012 and ongoing) Institutional Review Boards for the Protection of Human Subjects.
What about confidentiality – who will have access to my information? All of the personally identifiable information collected is completely confidential and will not be released outside of our research group without your written consent. We do not share your identifiable information with anyone (even your family members, unless you are a minor and your parent signed your consent form) unless you request us to do so. Exceptions include disclosures required by state law or for research auditing purposes. Studies funded by the National Institutes of Health, such as ours, are also required to deposit anonymous genetic sequence information in shared databases. Anonymized samples may be given to other researchers for cardiovascular genetic research purposes. If you would like us to share any information with your health care provider, we would need your specific written consent to do so. We are also willing to assist your physician with background knowledge about IDC and genetic DCM to enhance his or her understanding of your condition or results (if available), if so requested. Again, your written consent is always required to release your information.
What if I am interested in participating, but my family members are not? We encounter this situation frequently. If you have an affected family member, but you are not known to have IDC, we cannot enroll you in the study unless an affected family member enrolls.