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Atrial Heart Septal Defect 3

Disease Details

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Description: An atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the septum that divides the heart's two upper chambers (atria), which can cause oxygen-rich blood to mix with oxygen-poor blood.
Type: Atrial septal defect (ASD) type 3 is typically referred to as a sinus venosus defect. This type of atrial septal defect is often located near the junction of the superior vena cava and the right atrium. Its genetic transmission can be variable. While many cases are sporadic, some familial cases suggest an autosomal dominant pattern of inheritance with incomplete penetrance.
Signs And Symptoms: Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the septum that divides the two upper chambers (atria) of the heart. ASD3 refers to a specific type of atrial septal defect with genetic implications.

**Signs and Symptoms:**
1. **Fatigue or Tiring Easily**: Especially during physical activity.
2. **Shortness of Breath**: Often noticeable during exertion.
3. **Palpitations or Irregular Heartbeat**: May include a fluttering sensation in the chest.
4. **Frequent Respiratory Infections**: Repeated episodes of pneumonia or bronchitis.
5. **Swelling**: Particularly in the legs, feet, or abdomen.
6. **Heart Murmur**: A whooshing sound heard with a stethoscope.
7. **Failure to Thrive**: In infants, this can manifest as poor weight gain.

**NAN (Not Available/Not Applicable):**
Information tagged as "nan" typically means there are no additional relevant details available or applicable in this context.

Please discuss further details with a healthcare professional for an accurate diagnosis and personalized medical advice.
Prognosis: Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum, the wall that divides the upper chambers (atria) of the heart.

**Prognosis:**
The prognosis for individuals with an atrial septal defect depends on the size of the defect and the presence of other medical conditions. Small ASDs often close on their own and may not cause significant issues. Larger defects may require surgical repair. With appropriate medical or surgical treatment, most individuals can expect a good outcome and lead normal, active lives. Early diagnosis and management are crucial for optimizing long-term health.

**Nan:**
Unclear or irrelevant term in the context of atrial septal defect. If "nan" refers to "not a number" or is being used in another context, additional clarification is needed.
Onset: Atrial heart septal defect 3 (ASD3) onset can be variable. Some individuals may have symptoms at birth or in early childhood, while others might not show symptoms until adulthood. Specific onset information in days after birth is not well documented, and "nan" suggests no numeric onset is provided.
Prevalence: Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the septum between the heart's two upper chambers (atria). Specifically, ASDs can vary in type, such as ostium secundum, ostium primum, and sinus venosus, but the prevalence information is generally referred to collectively for ASDs.

The prevalence of atrial septal defects in the general population is estimated to be about 1-2 per 1,000 live births. Note that these figures encompass all types of atrial septal defects, not specifically categorized as heart septal defect 3 (ASD3).
Epidemiology: Atrial septal defect 3 (ASD3) is a type of congenital heart defect characterized by an abnormal opening in the atrial septum, which is the wall between the left and right atria of the heart. Epidemiologically, atrial septal defects are among the most common congenital heart defects, occurring in approximately 1 in 1,500 live births. The specific incidence of ASD3 is less well-defined but is included within these general estimates for ASD. ASD3 is typically diagnosed in childhood but can sometimes go undetected until adulthood if symptoms are mild. It can lead to complications such as heart failure, atrial arrhythmias, and paradoxical embolism if left untreated.
Intractability: Atrial septal defect (ASD) is not generally considered intractable. Many cases can be effectively managed or corrected with medical interventions, such as surgery or catheter-based procedures. The decision for treatment depends on the size of the defect, presence of symptoms, and overall impact on heart function.
Disease Severity: Atrial septal defect (ASD) refers to a hole in the wall (septum) that separates the top two chambers of the heart (atria). Although I don't have specific information on "atrial_heart_septal_defect_3," I can provide general information about the severity of atrial septal defects.

The severity of ASD can vary widely:
1. **Small defects:** Typically may cause no symptoms and might close on their own during childhood.
2. **Moderate defects:** May cause mild symptoms such as shortness of breath, fatigue, or palpitations.
3. **Large defects:** Can lead to significant symptoms, including arrhythmias, heart failure, pulmonary hypertension, and increased risk of stroke.

The severity often depends on the size and location of the defect and whether it is associated with other cardiac anomalies. Treatment options range from monitoring to surgical repair, depending on the severity and symptoms.
Healthcare Professionals: Disease Ontology ID - DOID:0110108
Pathophysiology: Atrial septal defect (ASD) is a congenital heart condition where there's an opening in the septum between the heart's two upper chambers (atria). ASD 3 specifically refers to secundum atrial septal defects, which are the most common type.

**Pathophysiology:**
- **Shunting**: Blood flows from the higher pressure left atrium to the lower pressure right atrium, resulting in a left-to-right shunt.
- **Volume Overload**: The right atrium, right ventricle, and pulmonary circulation experience increased volume due to the shunted blood.
- **Pulmonary Hypertension**: Over time, the increased blood flow to the lungs can lead to pulmonary hypertension.
- **Right Ventricular Hypertrophy**: The right ventricle may become hypertrophic from dealing with the increased workload.
- **Risk of Arrhythmias**: Enlargement of the heart chambers and stretching of conduction pathways can increase the risk for atrial arrhythmias like atrial fibrillation.

**Nan**: The term 'nan' typically signifies missing data or non-applicable information. If more context is needed specifically regarding 'nan', please provide additional details.
Carrier Status: Atrial heart septal defect 3 (ASD3) is a congenital heart defect characterized by an abnormal hole in the atrial septum, the wall between the left and right atria of the heart. It is caused by genetic mutations often inherited in an autosomal dominant manner. Carrier status for ASD3 often implies the presence of one copy of the mutated gene, which can lead to variable expression, ranging from being asymptomatic to having significant cardiac issues. It is important to seek genetic counseling for a comprehensive understanding of carrier status and its implications.
Mechanism: Atrial septal defect type 3 (also known as sinus venosus atrial septal defect) involves an abnormal opening in the septum between the two upper chambers of the heart (atria), near the sinus venosus region. This defect can lead to an abnormal flow of blood between the left and right atria.

**Mechanism:**
1. **Anatomic Defect**: This is a structural abnormality where there is a hole located near the superior vena cava or inferior vena cava entry into the right atrium.
2. **Interatrial Shunting**: Blood flows abnormally from the left atrium (higher pressure) to the right atrium (lower pressure), causing volume overload in the right atrium and right ventricle.
3. **Hemodynamic Consequences**: This leads to increased pulmonary blood flow and can eventually result in right atrial and ventricular enlargement and pulmonary hypertension.

**Molecular Mechanisms:**
1. **Genetic Factors**: Mutations in genes involved in heart development, such as NKX2.5, GATA4, and TBX5, may contribute to the formation of atrial septal defects. These genes play critical roles in the regulation of cardiac cell differentiation and development.
2. **Signaling Pathways**: Disruptions in signaling pathways, such as BMP (Bone Morphogenetic Protein) and Wnt signaling, which are important for cardiac morphogenesis, can lead to septal defects.
3. **Transcription Factors**: Abnormal expression of cardiac-specific transcription factors can affect the formation of the atrial septum, leading to defects. These transcription factors are essential for proper heart tissue specification and septum formation.
Treatment: The treatment for Atrial Septal Defect (ASD) 3 varies depending on the size of the defect and the presence of symptoms. For small ASDs that do not cause symptoms, regular monitoring may be sufficient. For larger ASDs or those causing significant symptoms, treatments may include:

1. **Medications**: These can help manage symptoms but do not fix the defect itself.

2. **Cardiac Catheterization**: A minimally invasive procedure where a device is inserted through a catheter to close the defect.

3. **Surgery**: Open-heart surgery might be necessary to repair the defect, especially for more complex or larger ASDs.

Each case should be evaluated individually, and a cardiologist can provide the best treatment approach.
Compassionate Use Treatment: Compassionate use treatment for Atrial Heart Septal Defect (specifically, atrial septal defect or ASD) 3 can include investigational devices or therapies not yet approved for widespread use but provided to patients who have no other treatment options. Off-label or experimental treatments might involve the use of currently available devices, such as closure devices, in novel ways or medication regimens not specifically approved for ASD. These approaches are typically considered when standard treatments, like surgical or catheter-based closure, are not suitable or have failed. Always consult a healthcare provider for the most current treatment options.
Lifestyle Recommendations: For individuals with atrial septal defect (ASD), particularly secundum type, lifestyle recommendations typically include:

1. **Regular Medical Follow-ups**: It's important to keep regular appointments with a cardiologist to monitor the condition.

2. **Moderate Physical Activity**: Engage in regular, moderate exercise to maintain cardiovascular health. Strenuous activities may need to be avoided depending on severity and physician advice.

3. **Avoid Smoking and Alcohol**: Smoking can exacerbate heart issues, and excessive alcohol intake can strain the heart.

4. **Healthy Diet**: Follow a balanced diet to maintain a healthy weight and support overall heart health. Low in saturated fats, trans fats, cholesterol, salt (sodium), and added sugars.

5. **Monitor Symptoms**: Stay alert to symptoms like shortness of breath, fatigue, or palpitations, and seek prompt medical attention if they worsen.

6. **Stress Management**: Practice stress-reducing techniques like mindfulness, yoga, or meditation to reduce strain on the heart.

7. **Vaccinations**: Stay up-to-date with vaccines, especially flu and pneumonia vaccines, as illnesses can put extra stress on the heart.

Follow specific medical guidelines tailored to the individual's condition as advised by healthcare providers.
Medication: Currently, there are no specific medications to treat the defect itself in atrial septal defect (ASD) type 3. However, medications can be prescribed to manage symptoms or complications, such as:

1. **Anticoagulants** - To prevent blood clots.
2. **Beta Blockers** - To manage arrhythmias.
3. **Diuretics** - To reduce fluid accumulation if heart failure symptoms develop.

It's essential for patients to consult a cardiologist for the most appropriate treatment.
Repurposable Drugs: For atrial septal defect (ASD), specifically the atrial heart septal defect 3, there are no well-known drugs that are repurposable specifically for this condition. Treatment typically involves monitoring, medical management of symptoms, and in more severe cases, surgical intervention to repair the defect. Medications may be used to manage symptoms or complications, such as anticoagulants to reduce the risk of blood clots, but these are not repurposable drugs specifically targeting ASD.
Metabolites: Atrial heart septal defect 3 (ASD3) is a congenital heart condition characterized by an abnormal opening in the atrial septum. It can lead to complications such as arrhythmias, pulmonary hypertension, and heart failure if untreated. Metabolic findings are typically not the primary focus in ASD3 management, as the condition is structural. Monitoring involves imaging studies like echocardiograms rather than metabolic profiling. If you need further specific details, please clarify.
Nutraceuticals: For atrial septal defect (ASD), there is no established evidence that nutraceuticals can repair or significantly impact the condition. Management of ASD typically involves medical monitoring, medical therapy to manage symptoms, or surgical intervention, depending on the severity and associated symptoms. Always consult with a healthcare professional for appropriate diagnosis and treatment.
Peptides: For atrial heart septal defect (ASD), specifically type 3, peptides and nanotechnology could potentially have therapeutic implications, but detailed research is sparse in this specific application. Peptides could play roles in enhancing tissue repair or modulating immune responses, while nanotechnology might offer innovative ways to deliver these peptide therapies more effectively. However, established treatments primarily involve surgical or catheter-based interventions to close the defect.