Inherited heart diseases also known as genetic cardiac conditions, cover a wide variety of rare heart diseases. Genes determine every function of the cardiovascular system. Factors like how the cells communicate in the heart, strength of the blood vessels to structure of the heart muscle are influenced by genes. If a person is diagnosed with heart diseases, it is likely for other family members to undergo screening to avoid risk factors and determine an early stage of disease that might not produce symptoms.
Approximately 40% of the risk for cardiovascular disease lies in hereditary factors.
Some of the inherited cardiac conditions are cardiomyopathy arrhythmia or disorders of cardiac rhythm and high blood cholesterol.Coronary artery disease leading to heart attack ,stroke and heart failure also indicate inherited genetic risk factors.
Dr. G Ramesh, Consultant Interventional Cardiologist says, “Our body is made up of trillions of cells. Each cell has a nucleus, containing chromosomes. Chromosomes carry DNA which again have genes within them. Chromosomes, DNA and genes together are responsible for building and maintaining human structure and physical characteristics that make us unique. We all have between 20,000 and 25,000 different genes each. Genetic heart conditions are caused by a fault (or mutation) in one or more of our genes. If one of our parents has a faulty gene, there is a chance you can have it too or you could pass it on to our children.”
It’s possible to have a defective gene that can lead to a heart condition, but you may never notice any signs or symptoms of the condition itself. If this happens, you can still pass the defective gene onto our child and there’s no way of knowing how it may infect them.
The most frequently heard genetic heart disease is hypertrophic cardiomyopathy. This disease can thicken a part or all of the heart muscle. In extreme cases it can cause sudden death.One in 500 is a victim of this. This is also a common cause of sudden cardiac death in athletes.
Symptoms of HCM include shortness of breath, palpitations, and chest pain and can vary among family members. This can be treated through medication to regulate heart function and rhythm. Surgical and nonsurgical procedures include alcohol septal ablation and myomectomy. An Ablation to treat the abnormal rhythm can also be done in some.
Another common genetic heart disease is familial dilated cardiomyopathy. In this case, the heart muscle becomes thin and weak. The disease affects both sides of the heart.As the chambers of the heart enlarge, the pumping capacity of the heart reduces leading to heart failure. The symptoms include shortness of breath, fatigue, regular heart beat, fainting or swelling of abdomen and feet.Treatment is meant to manage symptoms, prevent the condition from worsening and protect from life threatening complications. If a person has a sudden death before the age of 35 years, the 1st degree relatives should undergo screening. Another treatment option for this patient is heart transplantation.
Meanwhile, another genetically transmitted heart disease that wreaks havoc is known as familial hyper-cholesterolaemia . As we all know, a fat-like substance in every cell of the body and accumulation of bad cholesterol in excess( LDL) can narrow the arteries either partially or completely blocking the blood flow. FH is an inheritable cause of coronary artery disease. Neglecting it can prove to be fatal.
If the high cholesterol is due to genetic causes ,the symptoms begin at an early age. Some people can have a heart attack as early as 20 years of age. People often associate high cholesterol with unhealthy lifestyles, eating junk food, lack of exercise, and smoking, the role of genetics is often overlooked. In case of FH, in addition to lifestyle a high dose of medicines such as Statins are a must to bring the Cholesterol down.
Testing for an inherited heart condition
It can be difficult to diagnose an inherited heart condition.
The doctor or specialist might think you have one if:
.One of the member of our family has an inherited heart condition
.Any history of cardiac arrests or premature deaths in our family
.A death within the family is difficult to clarify or thought to be caused by a faulty gene
.If you’ve been diagnosed with angina or had a heart attack at a young age, within which case our doctor might suspect you’ve got FH.
If you’re a relative of somebody who has been diagnosed with associate transmitted cardiovascular disease (IHC), it’s suggested that you’re recommended to a specialist center.Here you’ll be tested to envision if you’ve got a similar faulty gene as our family member, that may lead to associate IHC.This sort of genetic testing through families is termed cascade testing.
Cascade screening could be a mechanism for distinguishing individuals in danger for a genetic condition by a method of systematic family tracing. It ought to begin with first-degree relatives (parents, siblings, and children)
And then be second and third-degree relatives in a very stepwise, cascade fashion, moving through the pedigree in ordered steps as additional family members are diagnosed till all at-risk relatives are screened.
It includes targeted genetic testing as well as clinical screening (e.g., lipid panel) of at-risk relatives.
Clinical screening permits for early identification of the family’s composition, whichb when, might need womb-to-tomb medical medical care, implantation of devices, and/or alternative sorts of medical management.
Genetic testing typically should be reserved for patients with a confirmed or suspected diagnosis of an inherited cardiovascular disease or for individuals at high prior risk resulting from a previously identified heart disease in their family.
.One crucial element is disease-appropriate features, either by the provider or via referral to a specialist.
.The second element is a comprehensive family history that spans at least 3 generations
.If these 2 elements together establish or strongly suggest an inherited cardiovascular disease. Then the next step is to identify the most appropriate person for genetic testing.
In 2016, a study in NEJM (New England Journal of medicine) found that making even a relatively modest effort to lead a healthy lifestyle can reduce the risk of heart disease by 50%. The important factors are not smoking, maintaining a BMI (body Mass index) of less than 30, getting regular physical activity and eating a healthy diet.
A moderate exercise of 30 to 45 minutes five days a week can lower the risk.Other factors are control of diabetes and hypertension and eating lots of fruits and vegetables ,getting adequate rest and sleep and managing stress by both physical activity and yoga or medication.
A healthy lifestyle combined with routine check ups and proper medication can significantly offset the risk of genetic factors.
Different transmitted heart conditions need completely different treatments and our doctor or specialist can justify what’s right for our condition.
Treatment for an IHC includes:
.Changes to our lifestyle
.Medication
.Implantable cardioverter defibrillators (ICDs)
