Disease name: Aortic (valve) stenosis
ICD-10 Disease Code: I35.0 - Nonrheumatic aortic (valve) stenosis
ICD-10 Disease Group: I35 - Nonrheumatic aortic valve disorders
General description:Aortic valve stenosis (AVS) is a type of heart valve disease caused by narrowing of the valve between the lower left heart chamber and the aorta. The aorta is the main artery that carries oxygen-rich blood out of the heart to the rest of the body. Blood flows out of the heart and into the aorta through the aortic valve. AVS can range from mild to severe.
As the aortic valve narrows, the left ventricle has to work harder to pump blood out through the valve. To do this, the muscles in the ventricle walls become thicker. The blood may sometimes back up into the lungs, and severe aortic stenosis can greatly limit the amount of blood reaching other parts of the body. AVS most commonly occurs later in life, but can sometimes be congenital, affecting children from birth. Narrowing of the aortic valve is most often due to a buildup of calcium deposits. This is called calcific aortic stenosis, or calcific aortic valve stenosis. The risk of calcium buildup is increased in individuals born with abnormal aortic or bicuspid valves.
Rheumatic fever has been linked with causing aortic valve stenosis.
Mutations:A genetic variation in the LPA gene that increases Lp(a) levels has been implicated in increasing the risk of coronary artery disease, AVS, and other heart diseases.
Many other mutations in diverse genes have been linked with cardiovascular diseases. The exact mutations implicated and their impact is disease-dependent.
Disease frequency:Aortic stenosis occurs in about 2% of people over 65 years of age. It occurs more often in men than in women.
Symptoms:Symptoms of aortic stenosis include irregular heart murmur as detected through a stethoscope, angina or tightness of the chest with activity, feeling faint, dizzy or fainting with activity, shortness of breath, fatigue, especially during times of increased activity, heart palpitations, decreased appetite,and an inability to gain enough weight. The last two symptoms mainly manifest in children with aortic stenosis.
Treatment:Treatment of aortic stenosis depends on the severity of the condition and can include surgery to repair or replace the valve.
If symptoms are not severe, regular checkups by a health professional may suffice.
Medications such as diuretics, nitrates, and beta-blockers may be useful to treat symptoms of heart disease.
Sources:- https://www.icd10data.com/
- https://www.orpha.net/consor/cgi-bin/index.php
- https://rarediseases.org/
- https://medlineplus.gov/genetics/
- https://www.cdc.gov/
- Enas EA, Varkey B, Dharmarajan TS, Pare G, Bahl VK. Lipoprotein(a): An independent, genetic, and causal factor for cardiovascular disease and acute myocardial infarction. Indian Heart J. 2019 Mar-Apr;71(2):99-112.
