Atrial Heart Septal Defect 7
Disease Details
Family Health Simplified
- Description
- Atrial heart septal defect 7 (ASD7) is a congenital heart condition characterized by an abnormal opening in the atrial septum, which allows blood to flow between the left and right atria.
- Type
- Atrial heart septal defect 7 (ASD7) is a congenital heart defect characterized by an abnormal opening in the atrial septum, the wall between the left and right atria of the heart. ASD7 follows an autosomal dominant pattern of genetic transmission.
- Signs And Symptoms
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Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum, the wall that separates the two upper chambers (atria) of the heart. "Atrial Heart Septal Defect 7" specifically refers to one of the genetic variations of this defect. Below are the typical signs and symptoms associated with ASD:
1. **Shortness of Breath:** Especially noticeable during exercise.
2. **Fatigue:** Feeling unusually tired.
3. **Heart Palpitations:** Sudden, noticeable heartbeats.
4. **Frequent Respiratory Infections:** Such as colds or bronchitis.
5. **Swelling:** In the legs, feet, or abdomen due to heart failure.
6. **Heart Murmur:** An extra or unusual sound heard during a heartbeat.
Many individuals with a small ASD may be asymptomatic and the condition can sometimes be discovered incidentally during a routine examination. - Prognosis
- Atrial heart septal defect 7 (ASD7) refers to a genetic form of atrial septal defect, which is a hole in the wall that separates the two upper chambers of the heart (atria). Prognosis for individuals with ASD7 can vary based on the size of the defect and the presence of other health issues. Small defects may be asymptomatic and not require treatment, while larger defects can lead to complications such as arrhythmias, heart failure, or stroke if left untreated. Surgical repair is often successful and can lead to a good long-term outcome. The prognosis generally improves with early diagnosis and appropriate management.
- Onset
- The onset of atrial septal defect (ASD) type 7 typically occurs at birth, as it is a congenital condition resulting from incomplete formation of the atrial septum during fetal development.
- Prevalence
- The prevalence of atrial heart septal defect 7 (ASD7) specifically is not well-documented in existing medical literature. Generally, atrial septal defects (ASDs) as a whole are relatively common congenital heart defects, occurring in 1 in 1,500 live births. More precise data on the subtype ASD7 would require further research.
- Epidemiology
- Atrial heart septal defect 7 (ASD7) is a specific type of congenital heart defect where there is an opening in the septum separating the heart's atria. It falls under the broader category of atrial septal defects, which are relatively common congenital heart issues. However, distinct epidemiological data specifically for ASD7 may not be readily available or differentiated from general ASD data, which indicates that ASD occurs in about 1 in 1,500 to 1 in 2,000 live births.
- Intractability
- Atrial septal defect (ASD), including type 7, is not considered intractable. It can often be effectively managed and treated with medical interventions, such as surgical repair or catheter-based procedures. The prognosis is generally good, especially if the defect is diagnosed and treated early.
- Disease Severity
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Atrial heart septal defect 7 (ASD7) is a type of congenital heart defect that affects the septum between the heart's atria. The severity can vary significantly depending on the size of the defect and associated complications. Small defects may be asymptomatic and might not require intervention, while larger defects can lead to serious complications such as heart failure, arrhythmias, pulmonary hypertension, and increased risk of stroke, necessitating surgical repair or other treatments.
"nan" typically stands for "not a number," but in this context, it seems unclear. If additional information or parameters are needed, further clarification would be helpful. - Healthcare Professionals
- Disease Ontology ID - DOID:0110112
- Pathophysiology
- Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the septum between the heart's two upper chambers (atria). This allows oxygen-rich blood from the left atrium to mix with oxygen-poor blood in the right atrium. Over time, this can lead to increased blood flow to the lungs and overloading of the right side of the heart, potentially resulting in right atrial and ventricular enlargement, pulmonary hypertension, and heart failure if left untreated. The specific subtype "atrial heart septal defect 7" refers to one of the genetic or specific classifications of ASDs that fall under a broader categorization of atrial septal defects.
- Carrier Status
- Atrial septal defect (ASD) type 7 is a genetic condition that primarily affects the heart. Carrier status refers to whether a person carries one copy of a mutated gene that can be passed on to offspring, without necessarily showing symptoms themselves. The term "nan" typically stands for "not a number" and doesn't apply meaningfully in this context. For specific information on carrier status, genetic testing would be required to determine whether a person carries the mutation for ASD type 7.
- Mechanism
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Atrial Heart Septal Defect 7 (ASD7) refers to a genetic form of atrial septal defect, where there is an abnormal opening in the atrial septum (the wall between the left and right atria of the heart). This defect allows oxygen-rich blood to flow from the left atrium into the right atrium, causing inefficient circulation.
**Mechanism:**
The primary mechanism involves the failure of the atrial septum to form correctly during fetal development. This incomplete development results in a hole in the atrial wall, leading to abnormal blood flow between the atria.
**Molecular Mechanisms:**
ASD7 is associated with mutations in the NUP155 gene, which encodes a nucleoporin protein involved in the nuclear pore complex assembly and function. The precise role of NUP155 mutations in causing ASD7 may involve disruption in nucleocytoplasmic transport processes, affecting cardiac tissue development and resulting in septal defects.
Understanding and investigating the effects of these mutations on cellular and developmental processes can provide insights into the pathogenesis of ASD7 and potential therapeutic approaches. - Treatment
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Atrial septal defect (ASD) is a congenital condition characterized by a hole in the wall (septum) that separates the heart's two upper chambers (atria). Treatment options for atrial septal defects, including those classified as type 7, generally include:
1. **Monitoring**: Small ASDs without significant symptoms or complications might just need regular follow-ups with a cardiologist.
2. **Medications**: While medications can't repair the defect, they may be used to manage symptoms or reduce the risk of complications, such as arrhythmias or blood clots.
3. **Catheter-based procedures**: Minimally invasive procedures using a catheter can sometimes be used to place a closure device to seal the defect.
4. **Surgical Repair**: For larger ASDs or for those that cause significant symptoms, open-heart surgery may be needed to close the defect with stitches or a patch.
Consulting with a cardiologist is essential to determine the most appropriate treatment based on the specific characteristics of the defect and the patient's overall health. - Compassionate Use Treatment
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Atrial septal defect (ASD) type 7 refers to a specific form of congenital heart defect. When considering compassionate use treatment, off-label, or experimental treatments for ASD type 7, it's important to discuss with a cardiologist or a specialist in congenital heart diseases. Generally, ASD may be managed through:
1. **Compassionate Use Treatments**: Compassionate use programs may provide access to treatments not yet widely available, usually under severe or life-threatening circumstances. For ASD, this could involve access to novel surgical techniques or devices still in experimental stages.
2. **Off-label Treatments**: Off-label use of medications is less common for ASD since it primarily involves structural defects. However, medications managing symptoms or preventing complications might be considered. For example, drugs to control arrhythmias or anticoagulants to prevent blood clots might be used off-label.
3. **Experimental Treatments**: Clinical trials may provide access to new and emerging treatments. This can include innovative catheter-based closure devices, novel surgical techniques, or bioprosthetic materials.
It's essential to conduct thorough discussions with healthcare professionals to understand the specific options, risks, and benefits based on individual patient conditions. - Lifestyle Recommendations
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Lifestyle recommendations for individuals with atrial septal defect (ASD) type 7 often include the following:
1. **Regular Monitoring**: Routine check-ups with a cardiologist are essential to monitor heart function and detect any changes early.
2. **Exercise**: Engage in regular, moderate exercise. High-impact or strenuous activities should be discussed with a healthcare provider to ensure they are safe.
3. **Healthy Diet**: Maintain a balanced diet rich in fruits, vegetables, whole grains, and lean proteins. Limiting salt, cholesterol, and saturated fats can help manage heart health.
4. **Weight Management**: Keep a healthy weight to reduce additional strain on the heart.
5. **Avoid Smoking**: Smoking can exacerbate heart conditions, so it is important to avoid using tobacco products.
6. **Limit Alcohol**: Excessive alcohol intake can affect heart health. Limit consumption as advised by a healthcare professional.
7. **Manage Stress**: Practice stress-reduction techniques such as yoga, meditation, or deep-breathing exercises.
8. **Stay Hydrated**: Proper hydration is important, but fluid intake should be balanced according to medical advice, particularly if there are concerns about fluid retention.
9. **Medication Adherence**: Follow any prescribed medication regimens strictly and consult with a healthcare provider before taking over-the-counter drugs or supplements.
10. **Recognize Symptoms**: Be aware of symptoms such as shortness of breath, palpitations, or fatigue and seek medical attention if they occur.
These recommendations should be personalized and discussed with a healthcare provider to suit individual needs and health status. - Medication
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Atrial Septal Defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum, which separates the heart's upper chambers. However, it's important to note that the term "atrial_heart_septal_defect_7" does not appear to correspond to a specific distinct condition or subtype commonly recognized in medical literature.
The management of ASD typically focuses on the size of the defect and the presence of symptoms. Many small ASDs may close on their own during infancy. Larger defects or symptomatic cases might require intervention. Current treatment options include:
- **Observation:** Small, asymptomatic ASDs might be monitored without immediate intervention.
- **Medications:** While there are no specific medications to close an ASD, medications might be used to manage symptoms or complications such as arrhythmias or heart failure. These may include:
- **Beta-blockers** or **calcium channel blockers** for heart rate control.
- **Diuretics** to reduce fluid accumulation.
- **Anticoagulants** like warfarin to prevent blood clots if there is an increased risk of stroke.
- **Interventional procedures:**
- **Sealing the defect:** Device closure using a catheter to place a closure device may be recommended.
- **Surgical repair:** Open-heart surgery to sew or patch the defect may be necessary for larger or more complicated cases.
Always consult a cardiologist for an accurate diagnosis and personalized treatment plan for any heart defect. - Repurposable Drugs
- Currently, there is no widely recognized or specific repurposable drug for Atrial Heart Septal Defect 7 (ASD7). Treatment typically involves medical monitoring or surgical intervention, such as closure of the septal defect, depending on the severity of the condition. Management focuses on symptom relief and preventing complications rather than using repurposed drugs. Always consult a healthcare professional for personalized recommendations and treatment options.
- Metabolites
- Aromatic L-amino acid decarboxylase deficiency (AADC) typically manifests during infancy and early childhood with symptoms such as developmental delay, hypotonia, and autonomic dysfunction. The primary treatment involves dopamine replacement with medications such as levodopa/carbidopa and supportive therapies like physical therapy.
- Nutraceuticals
- Currently, there is no established evidence supporting the use of nutraceuticals for treating atrial septal defect type 7. Management typically involves medical monitoring and possibly surgical intervention, depending on the defect's size and associated symptoms. Consulting a healthcare professional for personalized advice is recommended.
- Peptides
- Atrial Heart Septal Defect 7 (ASD7) is a congenital heart defect characterized by an abnormal opening in the atrial septum, which is the wall that separates the two upper chambers of the heart. This leads to the mixing of oxygen-rich and oxygen-poor blood between the atria. The term "peptides, nan" does not directly correlate with this condition, but peptides can be involved in cell signaling and developmental processes. However, nanotechnology (nan) may be explored for innovative treatments or diagnostic techniques, although such applications are generally still in developmental stages.