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aorta atresia
ICD-10 Codes
Description
Aortic atresia, also known as hypoplastic left heart syndrome (HLHS), is a rare congenital heart defect that affects the development of the left side of the heart.
Characteristics:
- The aorta, which carries oxygenated blood from the heart to the rest of the body, is either completely blocked or severely narrowed.
- The left ventricle, which pumps blood into the aorta, is underdeveloped and unable to pump enough blood to meet the body's needs.
- The mitral valve, which separates the left atrium from the left ventricle, may also be affected.
Symptoms:
- Blue discoloration of the skin (cyanosis) due to lack of oxygen in the blood
- Shortness of breath or difficulty breathing
- Fatigue or weakness
- Poor feeding or failure to gain weight
Causes and Risk Factors:
- Genetic mutations that affect heart development
- Family history of congenital heart defects
- Maternal exposure to certain toxins during pregnancy
Treatment Options:
- Surgical repair, which may involve multiple surgeries to create a new pathway for blood flow from the right ventricle to the aorta.
- Heart transplantation in severe cases.
According to [1], Aortic atresia is a rare congenital heart defect that affects approximately 1 in 4,000 births. The condition requires immediate medical attention and treatment to ensure proper development and survival of the affected individual.
References: [1] - According to search result 1: "Aortic atresia" by Mayo Clinic (search result 1)
Additional Characteristics
- Fatigue or weakness
- Shortness of breath or difficulty breathing
- The aorta, which carries oxygenated blood from the heart to the rest of the body, is either completely blocked or severely narrowed.
- Blue discoloration of the skin (cyanosis) due to lack of oxygen in the blood
- Poor feeding or failure to gain weight
- Genetic mutations that affect heart development
- Family history of congenital heart defects
- Maternal exposure to certain toxins during pregnancy
- Surgical repair, which may involve multiple surgeries to create a new pathway for blood flow from the right ventricle to the aorta.
- Heart transplantation in severe cases.
Signs and Symptoms
Aortic atresia, also known as aortic stenosis, is a congenital heart defect where the aortic valve is abnormally developed or absent. This condition can lead to inadequate blood flow from the left ventricle to the rest of the body.
Symptoms:
- Inadequate systemic oxygen delivery [14]
- Weakness or inability to move one side of the body (similar to symptoms of stroke) [15]
- Difficulty speaking
- Congenital heart defect, often detected in newborns
Important Note: Aortic atresia is typically fatal within 2-3 weeks of life if left untreated. Prompt medical attention is essential for survival.
It's worth noting that aortic aneurysm and aortic atresia are two distinct conditions. While both affect the aorta, they have different causes and symptoms. Aortic aneurysm refers to a weakening or bulging of the aorta, whereas aortic atresia is a congenital heart defect affecting the aortic valve.
References: [14] - Context result 14 [15] - Context result 15
Additional Symptoms
- Difficulty speaking
- Inadequate systemic oxygen delivery
- Weakness or inability to move one side of the body
Diagnostic Tests
Diagnostic Tests for Aortic Atresia
Aortic atresia, also known as aortic stenosis or aortic valve atresia, is a rare congenital heart defect where the aortic valve is completely blocked. Diagn
Additional Diagnostic Tests
- Electrocardiogram (ECG)
- Chest X-ray
- Echocardiogram
Treatment
Treatment Options for Aortic Atresia
Aortic atresia, also known as aortic valve atresia, is a congenital heart defect where the aortic valve is completely blocked or absent. In some cases, treatment may involve drug therapy to help manage symptoms and prepare the child for more invasive surgical procedures.
Medications Used in Aortic Atresia Treatment
According to medical literature [1], one of the medications used to treat aortic atresia is prostaglandin, which is administered intravenously (IV). This medication helps keep the ductus arteriosus open, allowing blood to flow from the pulmonary artery to the aorta and into the body. This can help alleviate symptoms such as cyanosis and dyspnea.
Other Treatment Options
While drug therapy may be used in some cases, it is often not sufficient on its own to treat aortic atresia. In many instances, surgical intervention is necessary to correct the defect [4]. The Norwood procedure, which involves reconstructing the neo-aorta using homograft tissue and other techniques, is commonly performed [13].
Multidisciplinary Approach
The treatment of aortic valve atresia requires a multidisciplinary approach, involving cardiologists, pediatric surgeons, and pediatricians working together to manage the condition [12]. This ensures that each child receives comprehensive care tailored to their specific needs.
References:
[1] SK Gandhi (2000) - Reconstruction of the aorta with a Norwood operation maintains its growth potential...
[3] TS Momenah (2015) - Percutaneous treatment of functional aortic atresia with covered stents is feasible, safe, and effective alternative to surgery...
[4] ML Jacobs (1998) - Staged reconstructive operations and primary transplantation have been advocated as treatment strategies...
[12] The treatment for aortic valve atresia is complex and requires a multidisciplinary approach...
[13] Primary biventricular repair is the most effective surgical treatment of aortic atresia...
Differential Diagnosis
The differential diagnosis for aortic valve atresia involves considering other rare congenital heart conditions that could be mistaken for it. Some of these conditions include:
- Tet
Additional Differential Diagnoses
- Transposition of the Great Arteries
- tricuspid atresia
- tetralogy of Fallot
- pulmonary valve stenosis
Additional Information
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:14037
- core#notation
- DOID:14037
- oboInOwl#hasDbXref
- UMLS_CUI:C0345010
- IAO_0000115
- An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta.
- rdf-schema#label
- aorta atresia
- oboInOwl#hasExactSynonym
- Congenital atresia and stenosis of aorta
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_520
- relatedICD
- http://example.org/icd10/Q25.29
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_8765
- owl#annotatedSource
- t408162
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.