ICD-10: Q21.2

Atrioventricular septal defect

Clinical Information

Inclusion Terms

  • Ostium primum atrial septal defect (type I)
  • Atrioventricular canal defect
  • Endocardial cushion defect

Additional Information

Approximate Synonyms

Atrioventricular septal defect (AVSD), classified under ICD-10 code Q21.2, is a congenital heart defect characterized by a combination of atrial septal defect (ASD) and ventricular septal defect (VSD). This condition results in a single common atrioventricular valve instead of separate mitral and tricuspid valves, leading to various hemodynamic complications. Below are alternative names and related terms associated with this condition.

Alternative Names for Atrioventricular Septal Defect

  1. Endocardial Cushion Defect: This term refers to the developmental anomaly that affects the endocardial cushions, which are critical in forming the septa and valves of the heart.

  2. Atrioventricular Canal Defect: This name emphasizes the defect's location and the involvement of both the atrial and ventricular septa, as well as the atrioventricular valves.

  3. Common Atrioventricular Canal: This term describes the presence of a single canal that serves both atria and ventricles, highlighting the structural abnormality.

  4. Partial Atrioventricular Septal Defect: This variant indicates that only part of the atrioventricular septum is affected, distinguishing it from the complete form of the defect.

  1. Congenital Heart Defect (CHD): A broad category that includes various structural heart anomalies present at birth, of which AVSD is a specific type.

  2. Atrial Septal Defect (ASD): A related condition where there is a hole in the wall (septum) that divides the two upper chambers of the heart (atria).

  3. Ventricular Septal Defect (VSD): Another related condition characterized by a hole in the wall dividing the two lower chambers of the heart (ventricles).

  4. Congenital Malformations of Cardiac Septa: This term encompasses various congenital defects affecting the septa of the heart, including AVSD, ASD, and VSD.

  5. Hemodynamically Significant Congenital Heart Disease: This term refers to congenital heart defects that significantly affect blood flow and heart function, which includes AVSD due to its impact on hemodynamics.

Understanding these alternative names and related terms can help in the accurate identification and classification of atrioventricular septal defects in clinical practice and medical documentation.

Diagnostic Criteria

Atrioventricular septal defect (AVSD), classified under ICD-10 code Q21.2, is a congenital heart defect characterized by a combination of atrial septal defect (ASD) and ventricular septal defect (VSD), along with a common atrioventricular valve. The diagnosis of AVSD involves several criteria, which can be categorized into clinical evaluation, imaging studies, and specific diagnostic tests.

Clinical Evaluation

  1. Symptoms: Patients may present with symptoms such as:
    - Shortness of breath, especially during exertion
    - Fatigue
    - Cyanosis (bluish discoloration of the skin)
    - Poor growth or failure to thrive in infants

  2. Physical Examination: A thorough physical examination may reveal:
    - A heart murmur, often a characteristic "whooshing" sound due to turbulent blood flow
    - Signs of heart failure, such as increased respiratory rate or peripheral edema

Imaging Studies

  1. Echocardiography: This is the primary diagnostic tool for AVSD. Key findings include:
    - Visualization of a single atrioventricular valve instead of separate mitral and tricuspid valves
    - Presence of both atrial and ventricular septal defects
    - Assessment of the size and function of the heart chambers

  2. Chest X-ray: This may show:
    - Cardiomegaly (enlarged heart)
    - Increased pulmonary vascular markings due to increased blood flow to the lungs

  3. Cardiac MRI or CT: These imaging modalities can provide detailed anatomical information and are used in complex cases or when surgical planning is necessary.

Diagnostic Tests

  1. Electrocardiogram (ECG): This test may reveal:
    - Atrial enlargement or other conduction abnormalities associated with AVSD.

  2. Cardiac Catheterization: In some cases, this invasive procedure may be performed to:
    - Measure pressures in the heart chambers
    - Assess the degree of shunting between the left and right sides of the heart

Genetic Considerations

AVSD is often associated with genetic syndromes, such as Down syndrome (Trisomy 21). Therefore, genetic counseling and testing may be recommended, especially in patients with additional congenital anomalies or family history of congenital heart defects.

Conclusion

The diagnosis of atrioventricular septal defect (ICD-10 code Q21.2) relies on a combination of clinical evaluation, imaging studies, and diagnostic tests. Early diagnosis and intervention are crucial for managing symptoms and improving outcomes in affected individuals. If you suspect AVSD or have further questions about its diagnosis, consulting a pediatric cardiologist or a specialist in congenital heart disease is advisable.

Description

Atrioventricular septal defect (AVSD), classified under ICD-10 code Q21.2, is a congenital heart defect characterized by a combination of atrial septal defect (ASD) and ventricular septal defect (VSD). This condition results from improper development of the heart's septa during fetal growth, leading to a single common atrioventricular valve instead of separate mitral and tricuspid valves. Below is a detailed clinical description and relevant information regarding this condition.

Clinical Description

Definition

Atrioventricular septal defect is a structural heart defect that involves a defect in the septum separating the heart's chambers, specifically affecting both the atria and ventricles. This defect can be classified into two main types:
- Complete AVSD: Involves a large hole in the center of the heart, allowing blood to flow freely between all four chambers. This type typically presents with a single atrioventricular valve.
- Partial AVSD: Involves a defect in the atrial septum and a ventricular septal defect, but the mitral and tricuspid valves are separate.

Pathophysiology

In AVSD, the abnormal formation of the heart's septa leads to inefficient blood circulation. Oxygen-rich blood from the left atrium mixes with oxygen-poor blood from the right atrium, resulting in decreased oxygen delivery to the body. Additionally, the heart must work harder to pump blood, which can lead to heart failure if left untreated.

Symptoms

Symptoms of AVSD can vary based on the severity of the defect and may include:
- Cyanosis: A bluish tint to the skin, lips, and nails due to low oxygen levels.
- Shortness of breath: Especially during exertion or feeding in infants.
- Fatigue: Increased tiredness during physical activity.
- Poor growth: In infants, failure to thrive may be observed.
- Heart murmur: Detected during a physical examination due to abnormal blood flow.

Diagnosis

Diagnosis of AVSD typically involves:
- Echocardiography: The primary tool for visualizing the heart's structure and function.
- Chest X-ray: To assess heart size and blood flow patterns.
- Electrocardiogram (ECG): To evaluate the heart's electrical activity.

Treatment Options

Surgical Intervention

The primary treatment for AVSD is surgical repair, which is usually performed in infancy or early childhood. The surgery aims to:
- Close the septal defects.
- Create separate atrioventricular valves if possible.
- Restore normal blood flow through the heart.

Postoperative Care

Post-surgery, patients require regular follow-up to monitor heart function and detect any potential complications, such as valve dysfunction or arrhythmias.

Prognosis

With timely surgical intervention, the prognosis for children with AVSD is generally favorable. Many patients can lead normal, active lives, although some may require additional surgeries or interventions later in life.

Conclusion

Atrioventricular septal defect (ICD-10 code Q21.2) is a significant congenital heart defect that necessitates early diagnosis and intervention. Understanding the clinical features, diagnostic methods, and treatment options is crucial for managing this condition effectively. Regular follow-up care is essential to ensure optimal outcomes for affected individuals.

Clinical Information

Atrioventricular septal defect (AVSD), classified under ICD-10 code Q21.2, is a congenital heart defect characterized by a combination of atrial septal defect (ASD) and ventricular septal defect (VSD), along with a common atrioventricular valve. This condition can lead to significant hemodynamic changes and various clinical manifestations. Below is a detailed overview of the clinical presentation, signs, symptoms, and patient characteristics associated with AVSD.

Clinical Presentation

Definition and Types

AVSD can be categorized into two main types:
1. Complete AVSD: Involves a large ASD and VSD with a single common atrioventricular valve.
2. Partial AVSD: Involves an ASD and a VSD, but the atrioventricular valves are separate.

Patient Demographics

AVSD is often diagnosed in infancy or early childhood, but it can occasionally be identified later in life. The condition is more prevalent in individuals with Down syndrome, where the incidence can be as high as 40%[1].

Signs and Symptoms

Common Symptoms

Patients with AVSD may present with a variety of symptoms, which can vary based on the severity of the defect and the age of the patient:

  • Cyanosis: A bluish discoloration of the skin, particularly in severe cases where oxygenated blood is shunted away from systemic circulation.
  • Heart Murmurs: A characteristic "whooshing" sound may be heard during a physical examination due to turbulent blood flow across the defects.
  • Respiratory Distress: Infants may exhibit rapid breathing or difficulty breathing, especially during feeding or exertion.
  • Poor Growth: Failure to thrive is common, as the heart's inefficiency can lead to inadequate nutrition and energy expenditure.
  • Fatigue: Children may tire easily during play or physical activity due to compromised cardiac output.

Additional Signs

  • Clubbing of Fingers and Toes: This may develop over time due to chronic hypoxia.
  • Frequent Respiratory Infections: Increased pulmonary blood flow can lead to congestion and a higher risk of infections.
  • Palpitations: Older children and adults may experience irregular heartbeats or palpitations.

Diagnostic Evaluation

Clinical Assessment

Diagnosis typically involves a thorough clinical evaluation, including:
- Physical Examination: Assessment of heart sounds, respiratory effort, and signs of heart failure.
- Echocardiography: The primary diagnostic tool, allowing visualization of the heart's structure and blood flow dynamics.
- Electrocardiogram (ECG): May show signs of atrial enlargement or other electrical abnormalities.

Imaging Studies

  • Chest X-ray: Can reveal cardiomegaly and increased pulmonary vascular markings.
  • Cardiac MRI: Occasionally used for detailed anatomical assessment.

Conclusion

Atrioventricular septal defect (ICD-10 code Q21.2) presents a complex clinical picture that requires careful evaluation and management. Early diagnosis and intervention are crucial to improve outcomes, particularly in infants and children. Understanding the signs and symptoms associated with AVSD can aid healthcare providers in timely identification and treatment, ultimately enhancing the quality of life for affected individuals. Regular follow-up and monitoring are essential, especially for those with partial or complete AVSD, to manage potential complications effectively[1][2].

Treatment Guidelines

Atrioventricular septal defect (AVSD), classified under ICD-10 code Q21.2, is a congenital heart defect characterized by a combination of atrial septal defect (ASD) and ventricular septal defect (VSD), along with a single common atrioventricular valve. This condition can lead to significant hemodynamic changes and requires careful management. Here’s an overview of standard treatment approaches for AVSD.

Diagnosis and Initial Assessment

Before treatment, a thorough diagnosis is essential. This typically involves:

  • Echocardiography: The primary tool for diagnosing AVSD, providing detailed images of the heart's structure and function.
  • Electrocardiogram (ECG): To assess heart rhythm and electrical activity.
  • Chest X-ray: To evaluate heart size and pulmonary blood flow.
  • Cardiac MRI or CT: In some cases, these imaging techniques may be used for a more detailed assessment.

Treatment Approaches

1. Medical Management

In cases where the defect is not immediately life-threatening, medical management may be the first step. This can include:

  • Diuretics: To manage fluid overload and reduce symptoms of heart failure.
  • ACE Inhibitors: To decrease the workload on the heart and improve heart function.
  • Beta-blockers: Sometimes used to manage heart rate and improve cardiac output.

2. Surgical Intervention

Surgery is often required to correct the anatomical defects associated with AVSD. The timing and type of surgery depend on the severity of the defect and the patient's overall health. Surgical options include:

  • Complete Repair: This is the most common approach, typically performed in infancy or early childhood. The procedure involves:
  • Closing the atrial and ventricular septal defects.
  • Reconstructing the atrioventricular valve to ensure proper function.
  • This surgery aims to restore normal blood flow and reduce the risk of heart failure and pulmonary hypertension.

  • Palliative Surgery: In some cases, particularly in very young infants or those with other significant health issues, a palliative approach may be taken initially. This could involve procedures to reduce symptoms and improve blood flow until a complete repair can be performed later.

3. Postoperative Care and Long-term Management

After surgical intervention, patients require careful monitoring and follow-up care, which may include:

  • Regular Echocardiograms: To assess the function of the heart and the atrioventricular valve.
  • Cardiology Consultations: Ongoing evaluations by a pediatric cardiologist or adult congenital heart disease specialist.
  • Management of Complications: Patients may face complications such as arrhythmias, valve regurgitation, or heart failure, necessitating further treatment.

4. Lifestyle and Supportive Care

Patients with AVSD may benefit from:

  • Nutritional Support: Ensuring adequate nutrition, especially in infants who may struggle to gain weight.
  • Physical Activity Guidance: Tailored recommendations for exercise and activity levels based on individual health status.
  • Psychosocial Support: Counseling and support groups for patients and families to address the emotional and psychological aspects of living with a congenital heart defect.

Conclusion

Atrioventricular septal defect (ICD-10 code Q21.2) requires a comprehensive treatment approach that includes medical management, surgical intervention, and long-term follow-up care. Early diagnosis and timely surgical repair are crucial for improving outcomes and quality of life for affected individuals. Ongoing research and advancements in cardiac care continue to enhance the management of this complex condition, providing hope for better outcomes in the future.

Related Information

Approximate Synonyms

  • Endocardial Cushion Defect
  • Atrioventricular Canal Defect
  • Common Atrioventricular Canal
  • Partial Atrioventricular Septal Defect

Diagnostic Criteria

  • Shortness of breath during exertion
  • Fatigue
  • Cyanosis (bluish skin discoloration)
  • Poor growth in infants
  • Heart murmur with turbulent blood flow
  • Signs of heart failure
  • Single atrioventricular valve on echocardiography
  • Atrial and ventricular septal defects on echocardiography
  • Cardiomegaly (enlarged heart) on chest X-ray
  • Increased pulmonary vascular markings on chest X-ray
  • Atrial enlargement on ECG
  • Conduction abnormalities on ECG

Description

  • Congenital heart defect
  • Atrial and ventricular septal defects
  • Single common atrioventricular valve
  • Oxygen-rich blood mixing with oxygen-poor blood
  • Decreased oxygen delivery to the body
  • Heart working harder to pump blood
  • Increased risk of heart failure
  • Cyanosis, shortness of breath, fatigue and poor growth
  • Abnormal heart murmur due to abnormal blood flow

Clinical Information

  • Atrioventricular septal defect is congenital
  • Combination of atrial septal defect and VSD
  • Common atrioventricular valve involved
  • Complete AVSD has single common valve
  • Partial AVSD has separate valves
  • More prevalent in individuals with Down syndrome
  • Common symptoms include cyanosis and heart murmurs
  • Respiratory distress, poor growth, fatigue are also present
  • Clubbing of fingers and toes may develop over time
  • Frequent respiratory infections are a concern
  • Palpitations can occur in older children and adults
  • Diagnosis involves echocardiography and physical examination

Treatment Guidelines

  • Echocardiography provides detailed heart images
  • Electrocardiogram assesses heart rhythm and electrical activity
  • Chest X-ray evaluates heart size and pulmonary blood flow
  • Diuretics manage fluid overload and symptoms of heart failure
  • ACE Inhibitors decrease workload on the heart
  • Beta-blockers manage heart rate and improve cardiac output
  • Surgical repair closes defects and reconstructs atrioventricular valve
  • Palliative surgery reduces symptoms until complete repair
  • Regular echocardiograms assess heart function post-surgery
  • Cardiology consultations monitor ongoing health status
  • Nutritional support ensures adequate nutrition in infants
  • Physical activity guidance tailored to individual needs

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