CANADIAN ADULT CONGENITAL HEART NETWORK


	The Beat Newsletter Archive 2009/2010 TCCCA update Winter 2009 Many things have happened at the Toronto Clinic over the last few months. We have said goodbye to some... + read more CCHA Updates Winter 2009 First ‘Beat Retreat’ camp a big success More than a dozen adult CHD patients – along with a cardiac care nurse... + read more Anxiety Winter 2009 The quiet agony of worry, so far, insidiously confined internally, first in tightness, in shallow breaths, in fearful ‘I wonder’,... + read more Hypertrophic Cardiomyopathy and Genetics Winter 2009 Recently I attended the conference, “Diagnosis and Management of Hypertrophic Cardiomyopathy and Prevention of Sudden Death: The Next 50 Years”,... + read more -------------------------------------------------- Sign-Up for Updates First Name Last Name Email Address Click here to unsubscribe			PRINT ARTICLE Hypertrophic Cardiomyopathy and Genetics Season: Winter 2009 Submitted By: Lori Newman, RN Nurse Clinician Calgary HCM Clinic Recently I attended the conference, “Diagnosis and Management of Hypertrophic Cardiomyopathy and Prevention of Sudden Death: The Next 50 Years”, in Minneapolis, Minnesota. Some of what I learned I have included below. Hypertrophic Cardiomyopathy (HCM) is defined as a thickened, not dilated, left ventricle (the pumping chamber) in the absence of another cardiac or systemic disease that could produce a similar magnitude of thickening. HCM is the most common genetic cardiovascular disease. It is an autosomal dominant condition, meaning an affected individual has a 50% chance of passing this condition to any of their children. HCM is also the most common cause of sudden cardiac death in young people and athletes. How can it be diagnosed? In the past, one of the only ways to diagnose HCM was by performing an echocardiogram. Now we have newer imaging modalities like cardiac MRI and advances have been made in genetic testing. Genetic testing can be very helpful in confirming the diagnosis in borderline cases and in family screening. A gene is defined as the basic biological unit of heredity. Humans have over 20,000 different genes. At this point over 12 different genes have been found to cause HCM. Within these genes there are approximately 1000 different mutations or changes that have been identified and new discoveries are being made every day. To complete genetic testing a blood sample is taken and then analyzed in a specialized genetics laboratory. The sample is analyzed into all of the different genes that the individual has. No two people have the same genes except for identical twins. While genetic testing may not change the course of treatment for someone already diagnosed with HCM, it can have implications for family members. Without genetic testing, first degree family members (parents, siblings, and children) are encouraged to have repeated echocardiograms at set intervals depending on their age. The echocardiograms are done to see if there is any sign of thickened heart muscle. With genetic testing family members can be offered a definitive answer as to whether or not they inherited the abnormal gene but are still asymptomatic. It can identify affected family members and offer surveillance and preventative care. It also identifies family members who do not have the abnormal gene and therefore should not develop HCM. Genetic testing is still in the early stages but is evolving at a rapid pace. At this point genetic testing is not covered by provincial health care plans; however, funding can be found in some cases. The cost is approximately $3000 for the initial testing. Subsequent family members will be less expensive. If you feel genetic testing may be something you want to explore, discuss it with your cardiologist and together you can decide if this is the right approach.