MyoKardia is collaborating with 23andMe, a genetic testing company which provides ancestry and health information directly to consumers, to create an online patient community intended to advance research efforts related to hypertrophic cardiomyopathy. The companies plan to allow 23andMe customers access to the latest information about HCM, as well as the opportunity to participate in research.
In a paper published in the prestigious journal Nature, a team led by Shoukhrat Mitalipov of Oregon Health and Science University described how it used CRISPR/Cas9 to correct a genetic mutation that’s linked to a heart disorder called hypertrophic cardiomyopathy in human embryos. And they did it without the errors that have plagued previous attempts to edit human embryos with CRISPR.
To be clear, the new work from OHSU was an experiment — the point was to test a concept, and the embryos used were never implanted into a woman’s uterus.
Most cardiologists see only a case or two of HCM per year, and just a handful of hospitals nationwide have the expertise or experience to systematically treat the often genetically linked condition. But that backwater status hasn’t kept HCM from capturing headlines and shocking the public whenever seemingly healthy young athletes collapse suddenly on football fields, basketball courts or ice hockey rinks and succumb to sudden cardiac death. HCM is believed to affect one in every 500 individuals across all age groups...
We hear it far too often: A young athlete collapses and dies, their youth and athleticism proving to be a cruel camouflage for a time bomb ticking within their seemingly-invincible body. Sadder still is the realization that thousands of more youngsters meet similar fates without warranting headlines. An underlying heart condition usually is at the root of these tragedies.
I have to say that I’m a bit tired of reading newspaper articles that call cardiomyopathy a rare condition. It’s not. Not in any way. Hypertrophic Cardiomyopathy (HCM) affects nearly 1 in 500 people worldwide. To put it in other terms, HCM affects more people than Cystic Fibrosis, Multiple Sclerosis, Muscular Dystrophy and ALS combined. It seems almost routine at this point to read about an athlete who collapses during or shortly after a workout and is later found to have HCM during their autopsy. It is the most common cause of death in young athletes.
But it’s not just the athletes. It’s the 12 year old walking the hallways between classes in sixth grade. It’s the 22 year old biking to work. It’s the young woman, eagerly awaiting the birth of her first child.
The most common cause of SCA in these young athletes is Hypertrophic Cardiomyopathy (HCM). Is sudden cardiac arrest stoppable? Probably not. In the meantime push for the availability of PADs at your sports venues. It may make a difference.
Sudden death from a heart condition is the leading medical cause of death in NCAA athletes, and represents 75 percent of all sudden death that occurs during exercise, training or competition. Put pride aside, don't diagnose yourself.
Sudden death in young athletes is often due to some congenital abnormality of the heart that is sometimes asymptomatic, making it a silent killer. A majority of these cases are due to a condition called hypertrophic cardiomyopathy (HCM). This inherited defect causes the muscular wall of the heart (often the middle wall called the septum) to be asymmetrically or irregularly enlarged. This interferes with, or prevents, blood from flowing out of the heart when it is beating fast during exercise.
Congenital cardiovascular disease is the leading cause of non-traumatic sudden athletic death, with hypertrophic cardiomyopathy being the most common cause. Screening athletes for disorders capable of provoking sudden death is a challenge because of the low prevalence of disease, and the cost and limitations of available screening tests. Current recommendations for cardiovascular screening call for a careful history and physical examination performed by a knowledgeable health care provider. Specialized testing is recommended only in cases that warrant further evaluation.
The big throbby thing in the middle of your chest — your heart — is made mostly of muscle, whose rhythmic contractions force some 2,000 gallons a day of blood throughout our bodies. About one in every 500 of us is born with hypertrophic cardiomyopathy, a genetic disease caused by one of numerous mutations that, mysteriously, cause heart muscle to contract with too much force.
Luckily, recent research has shown that with the right treatment, and thanks to modern medical advances, the scariest and worst scenario is not likely, and that most HCM patients will live normal life spans with few disabilities.
Learn more about HCM.
HCM Care, a new educational website and downloadable app for HCM patients and their families, featuring essential information for patients trying to understand their HCM diagnosis, explained in written and video formats. HCM Care also provides useful information about genetic testing and family screening for their family members - HCM Beat
The preeminent organization improving the lives of those with Hypertrophic Cardiomyopathy, preventing untimely deaths and advancing global understanding.
Learn about the many treatment options for hypertrophic cardiomyopathy. Also understand the prognosis for patients with the condition depending on the presence or absence of obstruction.
We have used our precision medicine platform to generate an initial pipeline of therapeutic programs for the chronic treatment of the two most common forms of heritable cardiomyopathy—hypertrophic cardiomyopathy, or HCM, and dilated cardiomyopathy, or DCM.
The diagnosis of HCM is established with an echocardiogram (an evaluation of the heart’s structure using ultrasound). The echocardiogram makes detailed pictures of the various heart walls and heart valves and the thickness of the various heart walls can be measured. The echocardiogram can also be used to estimate the degree of obstruction to blood flow exiting the heart.
HCM is a genetic condition caused by a change or mutation in one or more genes and is passed on through families. Each child of someone with HCM has a 50 per cent chance of inheriting the condition.
About 1 in 500 of the UK population has the condition, although most people who have it have few symptoms.
Student athletes are at a greater risk for Sudden Cardiac Arrest (SCA) because it is 60% more likely to occur during exercise or physical activity. Educating student athletes and parents about the symptoms and risk factors of SCA is one way to help prevent it.
Parent Heart Watch was established by parents who have lost a child to Sudden Cardiac Arrest. Through our dedicated network, we are turning our tragedy into positive actions that will save young lives across the nation.
We provide free heart screenings to identify young people at risk for heart-related problems before they occur. We believe that every student should get a heart screening. We screen our kids’ eyes and ears – why not their hearts?
Stiffness in the left ventricle occurs as a result of cellular changes that occur in the heart muscle when it thickens. The left ventricle is unable to relax normally and fill with blood. Since there is less blood at the end of filling, there is less oxygen-rich blood pumped to the organs and muscles.
Hypertrophic cardiomyopathy (HCM) is a genetic cardiovascular disease. It is defined by an increase in left ventricular wall thickness that is not solely explained by abnormal loading conditions. This disorder is caused by a mutation in cardiac sarcomere protein genes and is most frequently transmitted as an autosomal dominant trait. HCM has a variable presentation.
Heart for Athletes has chosen to focus on the most at-risk group. Athletes are up to 3 times more likely than their non-athletic counterparts to suffer from SCA. As the intensity of their training increases, so does their risk of SCA. An athlete with an undetected heart condition may have a 100-fold risk of suffering from SCA.
Hypertrophic cardiomyopathy often goes undiagnosed because many people with the disease have few, if any, symptoms and can lead normal lives with no significant problems.
Hypertrophic cardiomyopathy is a condition that is most often passed down through families (inherited). It is thought to result from defects in the genes that control heart muscle growth.
Younger people are likely to have a more severe form of hypertrophic cardiomyopathy. However, the condition is seen in people of all ages.
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disorder characterised by left ventricular hypertrophy (LVH), impaired diastolic filling, and abnormalities of the mitral valve. These features can cause dynamic obstruction of the left ventricular outflow tract, diastolic dysfunction, myocardial ischaemia, and an increased risk of supraventricular and ventricular tachyarrhythmias.