Is Heart Valve Disease Hereditary?

Heart valve disease is characterized by irregular blood flow when one or more valves do not open and close normally. Heart valve disease may occur due to a congenital heart defect or, many times in adults, due to infections and other conditions.1

Introduction to the Heart - how does it function?

The heart is an organ that pumps blood to all parts of the body. It consists of 4 chambers; the two upper chambers are the atria, and the chambers located below them are called ventricles. 

The heart also has 4 valves for regulating blood flow: the tricuspid, mitral, aortic and pulmonary valves, all of which have flaps that prevent backward blood flow. The contraction and relaxation of the heart enable the contraction and relaxation of the valves so that the blood flows at alternate times between the atrium and ventricle.1

What is Heart Valve Disease?

According to WebMD.com, heart valve disease happens when the valves do not function normally as they should.2 

The different types of heart valve disease are: 

  • Valvular stenosis - a narrow valve that does not open normally
  • Valvular insufficiency - a valve that does not close well, resulting in blood backflow (“leaky valve”)

Complications 

Symptoms of heart valve disease include:

  • Shortness of breath
  • Chest discomfort
  • Palpitations
  • Weakness
  • Oedema

These symptoms can have serious consequences. If the disease is left undiagnosed and untreated, it could lead to the complications listed below:

Regurgitation: Blood leaking backwards toward the heart 

A mitral valve prolapse (misalignment) causes the heart valves to bend backwards, causing blood leakage. Mitral valve regurgitation leakage can occur when the ventricles contract and aortic valve regurgitation can be due to a congenital heart defect. 

The American Heart Association states that symptoms of mitral regurgitation include palpitations and shortness of breath due to improper functioning of the heart.3 

Stenosis

According to Mayo Clinic, aortic stenosis is associated with the narrowing of the aortic valve.4 When this happens, the blood flow from the artery (aorta) to the rest of the body diminishes. Symptoms include heart murmurs, fainting, dizziness and palpitations. It is possible to remain asymptomatic for many years with this heart valve disease.

Causes include congenital defects of the bicuspid and tricuspid valves, rheumatic fever and calcium buildup. Risk factors include high blood pressure, old age and congenital heart disease. 

Atresia 

Heart valves, when they become underdeveloped, misshapen or are absent altogether characterize the phenomenon called atresia. According to the CDC, atresia in the tricuspid valve is congenital heart disease, and the valve is absent.5 This results in the blocking of blood flow from the ventricles to the lungs. The blood flow is uncontrolled and dysregulated from the atrium to the ventricle as the tricuspid valve is unformed. Treatment includes medicine for high blood pressure, nutritious food and surgery. 

Other CVD: heart failure, blood clots, stroke 

Heart failure is when the blood cannot pump, associated with systolic blood pressure, or fill adequately, as in diastolic. It is very common and can be diagnosed with medical laboratory tests. Patients experience shortness of breath, fatigue and rapid heartbeat. 

According to Healthline.com, blood clots in the lungs cause chest pain, jaw pain, abdominal pain and nausea in people assigned female at birth.6 It is also the reason for a heart attack. Coronary artery disease or coronary artery thrombosis occurs when fatty tissues break off and cause blood blockage in the heart. 

Strokes occur when blood flow is blocked or when blood clots form. According to the WHO, 32% of deaths are due to cardiovascular diseases, while 85% of these are due to stroke and heart attack.7 Reasons for stroke include high blood pressure and obesity. Aortic aneurysms or aortic bulges can also cause strokes. 

Causes

Congenital heart disease 

A birth defect in the heart’s structure and its components. It results in abnormal growth, development and functioning of the heart. 

Rheumatic fever

This is caused by the immune response of the body following a streptococcal bacterial infection. Rheumatic fever can lead to Rheumatic Heart Disease, a long-term illness that damages the heart valves. 

Cardiomyopathy

It can be either acquired through various conditions or inherited genetically. Cardiomyopathy prevents the heart from pumping blood to other body parts, causing heart failure. Dilated cardiomyopathy is the weakening of the heart muscle. The left ventricle is where the problem originates. 

Ageing 

By 2030, 20% of the population will be over 60 years of age, and 40% will most likely suffer from cardiovascular diseases (CVD). With age, the blood vessels and heart deteriorate, resulting in heart disease. These CVDs, in turn, can lead to heart valve disease.

Endocarditis 

Bacterial endocarditis, faulty valves, and mitral regurgitation are all ways a person can get endocarditis. Rheumatic heart disease, mitral prolapse, congenital birth defects and hypertrophic cardiomyopathy are additional reasons. Muscle and joint pain, shortness of breath and stroke are symptoms.8

High blood pressure, high cholesterol, diabetes 

High blood pressure in the body results in a faster speed of blood flow through the arteries. Thus, high blood pressure and diabetes raise the risk of CVD. According to the CDC, high cholesterol can enable plaque formation in the artery, causing heart failure and heart attacks.9 

Management and Treatment

Medications 

ARBs (angiotensin II-receptor blockers) and ACE (angiotensin-converting enzyme) inhibitors for dilating blood vessels and reducing blood pressure. This prevents heart failure, according to heart.org.10 Anticoagulants like blood thinners, antibiotics, antiarrhythmic drugs, beta-blockers and diuretics are also used. 

Surgery 

Annuloplasty, valvuloplasty, and robot-assisted surgery are offered as a treatment for heart valve disease. It is major surgery with a risk of complications and side effects. Valve replacement and valve repair are done as part of this. 

Regular monitoring 

The physician will monitor the prognosis of the heart valve disease. This involves regular lab tests and doctor checkups. 

Preventing further damage (lifestyle)

The physician will provide advice about lifestyle changes, such as a heart-healthy diet, regular exercise, managing stress and work. This, along with medications, can ensure longevity. 

Summary

Heart valve disease can be hereditary. It can be caused by other factors like rheumatic disease and bacterial endocarditis. Regurgitation and stenosis are complications associated with it. Other risk factors include high blood pressure and age. The treatment includes medications, surgery and lifestyle management. 

References

  1. Heart valve disease - Symptoms and causes. Mayo Clinic [Internet]. [cited 2022 Apr 15]. Available from: https://www.mayoclinic.org/diseases-conditions/heart-valve-disease/symptoms-causes/syc-20353727.
  2. An Overview of Heart Valve Disease. WebMD [Internet]. [cited 2022 Apr 15]. Available from: https://www.webmd.com/heart-disease/guide/heart-valve-disease.
  3. Problem: Mitral Valve Regurgitation. www.heart.org [Internet]. [cited 2022 Apr 15]. Available from: https://www.heart.org/en/health-topics/heart-valve-problems-and-disease/heart-valve-problems-and-causes/problem-mitral-valve-regurgitation.
  4. Aortic valve stenosis - Symptoms and causes. Mayo Clinic [Internet]. [cited 2022 Apr 15]. Available from: https://www.mayoclinic.org/diseases-conditions/aortic-stenosis/symptoms-causes/syc-20353139.
  5. CDC. Congenital Heart Defects - Facts about Tricuspid Atresia | CDC. Centers for Disease Control and Prevention [Internet]. 2019 [cited 2022 Apr 15]. Available from: https://www.cdc.gov/ncbddd/heartdefects/tricuspid-atresia.html.
  6. Blood Clot Symptoms: How Do You Know if You Have One? Healthline [Internet]. 2021 [cited 2022 Apr 15]. Available from: https://www.healthline.com/health/how-to-tell-if-you-have-a-blood-clot.
  7. Cardiovascular diseases (CVDs) [Internet]. [cited 2022 Apr 15]. Available from: https://www.who.int/news-room/fact-sheets/detail/cardiovascular-diseases-(cvds).
  8. Endocarditis: Symptoms, Causes, Tests and Treatment. Cleveland Clinic [Internet]. [cited 2022 Apr 15]. Available from: https://my.clevelandclinic.org/health/diseases/16957-endocarditis.
  9. CDC. Diabetes and Your Heart. Centers for Disease Control and Prevention [Internet]. 2021 [cited 2022 Apr 15]. Available from: https://www.cdc.gov/diabetes/library/features/diabetes-and-heart.html.
  10. Medications for Heart Valve Symptoms. www.heart.org [Internet]. [cited 2022 Apr 15]. Available from: https://www.heart.org/en/health-topics/heart-valve-problems-and-disease/understanding-your-heart-valve-treatment-options/medications-for-heart-valve-symptoms.

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Aarthi Narayan

Master of Science (M.S.), Biological science, University of Illinois Chicago
Scientist with 10+ years of strong industry, academic experience in Molecular biology, Tissue culture, Protein purification techniques. Mid-level experience in Diagnostics and start-ups. Excellent at completing large scale projects and experiments with minimal supervision in a timely and efficient manner.

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