Greg
I am 1 in 250 – are you?
Greg
Six years ago, I was at a routine allergist appointment when my doctor discovered I had a slow and irregular heart rhythm. Upon following up with a cardiologist, I learned I had an extremely weakened heart muscle and conduction system disease, with a 38% ejection fraction and a blockage of electrical impulses to the left side of my heart. My diagnosis was dilated cardiomyopathy (DCM)—the most common type of cardiomyopathy. After experiencing episodes of ventricular tachycardia (a fast, abnormal heart rate) and with my ejection fraction eroding to 20%, a cardioverter-defibrillator was implanted to deliver a shock to reset my heartbeat if it became uneven.
When I tell my story, I like to give a little information about DCM since studies show that 1 in 250 people have DCM. It occurs mostly in adults 20 to 60, but it can manifest at any age. It affects the heart’s ventricles and atria, which are the lower and upper chambers of the heart. Frequently the disease starts in the left ventricle, the heart’s main pumping chamber. The heart muscle begins to dilate, meaning it stretches and becomes thinner. Consequently, the inside of the chamber enlarges. The problem often spreads to the right ventricle and then to the atria. As the heart chambers dilate, the heart muscle doesn’t contract normally and cannot pump blood very well. As the heart becomes weaker heart failure can occur. Common symptoms of heart failure include shortness of breath, fatigue and swelling of the ankles, feet, legs, abdomen and veins in the neck.
Because DCM can present in an advanced, life-threatening stage, the knowledge gained through genetic testing is a powerful thing.
As I learned about DCM I discovered that it is often hereditary, so I decided to undergo genetic testing. Genetic testing showed that I have three genetic changes/mutations in genes associated with DCM, namely the LMNA 331, LMNA 399 and TPM1 genes. Additional genetic testing of family members revealed that two of these mutations were inherited through my mom and one was inherited through my dad. A total of nine family members are now known to have one, two or all three variants, including all three of my children and both of my nephews. My young grandson has a 50/50 chance of having one or more of the gene mutations. While my grandfather, father and uncle have all died of DCM-related heart issues, all other family members known to have a genetic risk of DCM are currently asymptomatic. But because DCM can present in an advanced, life-threatening stage, the knowledge gained through genetic testing is a powerful thing. It allows my asymptomatic family members to be proactive with their cardiovascular health.
Discovering I had DCM as well as the large number of my loved ones at genetic risk of DCM was life changing for me and my entire family. As a result of the knowledge gained, I founded the DCM Foundation in 2017 with a mission of providing hope and support to other patients and families with dilated cardiomyopathy through research, advocacy and education (https://dcmfoundation.org). I am 1 in 250—are you?
I am 1 in 250 – are you?
Greg
Six years ago, I was at a routine allergist appointment when my doctor discovered I had a slow and irregular heart rhythm. Upon following up with a cardiologist, I learned I had an extremely weakened heart muscle and conduction system disease, with a 38% ejection fraction and a blockage of electrical impulses to the left side of my heart. My diagnosis was dilated cardiomyopathy (DCM)—the most common type of cardiomyopathy. After experiencing episodes of ventricular tachycardia (a fast, abnormal heart rate) and with my ejection fraction eroding to 20%, a cardioverter-defibrillator was implanted to deliver a shock to reset my heartbeat if it became uneven.
When I tell my story, I like to give a little information about DCM since studies show that 1 in 250 people have DCM. It occurs mostly in adults 20 to 60, but it can manifest at any age. It affects the heart’s ventricles and atria, which are the lower and upper chambers of the heart. Frequently the disease starts in the left ventricle, the heart’s main pumping chamber. The heart muscle begins to dilate, meaning it stretches and becomes thinner. Consequently, the inside of the chamber enlarges. The problem often spreads to the right ventricle and then to the atria. As the heart chambers dilate, the heart muscle doesn’t contract normally and cannot pump blood very well. As the heart becomes weaker heart failure can occur. Common symptoms of heart failure include shortness of breath, fatigue and swelling of the ankles, feet, legs, abdomen and veins in the neck.
Because DCM can present in an advanced, life-threatening stage, the knowledge gained through genetic testing is a powerful thing.
As I learned about DCM I discovered that it is often hereditary, so I decided to undergo genetic testing. Genetic testing showed that I have three genetic changes/mutations in genes associated with DCM, namely the LMNA 331, LMNA 399 and TPM1 genes. Additional genetic testing of family members revealed that two of these mutations were inherited through my mom and one was inherited through my dad. A total of nine family members are now known to have one, two or all three variants, including all three of my children and both of my nephews. My young grandson has a 50/50 chance of having one or more of the gene mutations. While my grandfather, father and uncle have all died of DCM-related heart issues, all other family members known to have a genetic risk of DCM are currently asymptomatic. But because DCM can present in an advanced, life-threatening stage, the knowledge gained through genetic testing is a powerful thing. It allows my asymptomatic family members to be proactive with their cardiovascular health.
Discovering I had DCM as well as the large number of my loved ones at genetic risk of DCM was life changing for me and my entire family. As a result of the knowledge gained, I founded the DCM Foundation in 2017 with a mission of providing hope and support to other patients and families with dilated cardiomyopathy through research, advocacy and education (https://dcmfoundation.org). I am 1 in 250—are you?