About Subaortic stenosis-short stature syndrome

What is Subaortic stenosis-short stature syndrome?

Subaortic stenosis-short stature syndrome is a rare genetic disorder characterized by a narrowing of the aorta (the main artery that carries blood from the heart to the rest of the body) and short stature. It is caused by a mutation in the MYH11 gene, which is responsible for the production of a protein that helps form the walls of the aorta. Symptoms of the disorder include short stature, chest pain, fatigue, and difficulty breathing. Treatment typically involves surgery to widen the aorta and medications to reduce the risk of complications.

What are the symptoms of Subaortic stenosis-short stature syndrome?

The symptoms of Subaortic Stenosis-Short stature Syndrome (SSSS) vary from person to person, but may include:

-Short stature
-Heart murmur
-Rapid breathing
-Chest pain
-Fatigue
-Lightheadedness
-Fainting
-Palpitations
-Shortness of breath
-Difficulty exercising
-Swelling of the legs and feet
-High blood pressure
-Abnormal heart rhythms
-Enlarged heart (cardiomegaly)
-Abnormal heart valves

What are the causes of Subaortic stenosis-short stature syndrome?

Subaortic stenosis-short stature syndrome is caused by a genetic mutation in the MYH6 gene. This gene is responsible for producing a protein that helps to form the heart muscle. When the gene is mutated, it can cause the heart muscle to become thickened, leading to a narrowing of the aortic valve and a decrease in the amount of blood that can flow through the valve. This can lead to short stature, as well as other symptoms such as chest pain, fatigue, and difficulty breathing.

What are the treatments for Subaortic stenosis-short stature syndrome?

The primary treatment for Subaortic stenosis-short stature syndrome is surgical intervention. This involves the removal of the obstruction in the left ventricular outflow tract (LVOT) to improve blood flow. Other treatments may include medications to reduce the workload on the heart, such as beta-blockers and ACE inhibitors, as well as lifestyle modifications, such as reducing salt intake and avoiding strenuous physical activity. In some cases, growth hormone therapy may be recommended to help improve the patient's height.

What are the risk factors for Subaortic stenosis-short stature syndrome?

1. Family history of Subaortic stenosis-short stature syndrome
2. Genetic mutations in the MYH6 gene
3. Being male
4. Being of African-American descent
5. Being born prematurely
6. Having a low birth weight
7. Having a history of heart defects in the family
8. Having a history of congenital heart defects in the family
9. Having a history of other genetic disorders in the family
10. Having a history of maternal diabetes during pregnancy

Is there a cure/medications for Subaortic stenosis-short stature syndrome?

At this time, there is no known cure for Subaortic Stenosis-Short Stature Syndrome. However, there are medications that can be used to manage the symptoms of the condition. These medications include beta-blockers, ACE inhibitors, and diuretics. Additionally, lifestyle modifications such as avoiding strenuous physical activity and maintaining a healthy diet can help to reduce the symptoms of the condition.