Information on ASD (Atrial Septal Defect) or Congenital Heart Defect involving a hole in the septum between the two upper chambers of the heart

Information on ASD (Atrial Septal Defect) or Congenital Heart Defect involving a hole in the septum between the two upper chambers of the heart

In the human heart, a doctor uses a transducer on the chest to create sound waves that bounce off the heart, and a computer turns these sound waves into a moving image of the heart. This process, known as an echocardiogram, is one of the methods doctors use to diagnose Atrial Septal Defect (ASD), a congenital heart defect that causes a hole between the heart's upper chambers [1][2][3][5].

ASD can lead to abnormal blood flow, putting strain on the heart and lungs, and possibly causing embolic events when clots traverse the defect. Common symptoms of a large ASD in adults include shortness of breath (especially during activity), chronic fatigue, heart palpitations or skipped beats, swelling in the legs or abdomen (edema), and increased susceptibility to stroke [1][2][3][4]. In advanced or untreated cases, symptoms can include bluish discoloration of the lips, hands, or feet (peripheral cyanosis or gangrene), indicating poor oxygenation and possible heart failure [3][4].

Doctors diagnose ASD through various methods, including physical examination, electrocardiogram (ECG), chest X-ray, echocardiogram, and cardiac catheterization. For a larger ASD, people may require surgery to close the hole, with options including transcatheter closure and open heart surgery [4].

ASD occurs if the hole is larger than usual and does not close up. There are four types of ASD, depending on the location of the hole: Ostium secundum, Ostium primum, Sinus venosus, and Coronary sinus [6]. It is natural to have a hole between the upper chambers at birth, but this opening usually closes up following birth [7].

Babies born with ASD may display symptoms such as frequent respiratory infections, breathing issues, palpitations, heart murmur, swelling in the feet, legs, or stomach, stroke, or no symptoms until adulthood [1]. Certain factors during pregnancy may affect development and play a part in ASD, including Down syndrome, Treacher-Collins syndrome, Thrombocytopenia absent radius syndrome, Turner syndrome, Noonan syndrome, exposure to rubella during pregnancy, exposure to alcohol or drugs such as cocaine during pregnancy, older maternal age, or unknown causes [8].

People with complications from ASD, such as pulmonary hypertension, may need to avoid high level sports. Regular health checkups, dental checkups, a heart-healthy diet, regular physical activity, avoiding smoking, achieving and maintaining a moderate weight, managing stress, seeking professional help or support if ASD is affecting mental health, receiving routine vaccinations, and making a doctor aware of ASD history if taking any new medications or receiving any surgery are recommended lifestyle choices for people with congenital heart defects [1].

In summary, the most frequent and clinically important symptoms in adults with large ASDs are:

• Shortness of breath on exertion
• Fatigue
• Palpitations and arrhythmias
• Peripheral edema (swelling of legs or abdomen)
• Increased risk of stroke
• Cyanosis (bluish discoloration) in advanced cases

These symptoms often prompt diagnostic evaluation including physical examination, echocardiogram, and sometimes transesophageal echocardiogram to confirm the lesion and assess severity [1][4].

References:

[1] Mayo Clinic. (2021). Atrial septal defect (ASD). [online] Available at: https://www.mayoclinic.org/diseases-conditions/atrial-septal-defect/symptoms-causes/syc-20370614

[2] National Heart, Lung, and Blood Institute. (2021). Atrial Septal Defect. [online] Available at: https://www.nhlbi.nih.gov/health-topics/atrial-septal-defect

[3] American Heart Association. (2021). Atrial Septal Defect. [online] Available at: https://www.heart.org/en/health-topics/atrial-septal-defect

[4] Cleveland Clinic. (2021). Atrial Septal Defect. [online] Available at: https://my.clevelandclinic.org/health/diseases/15534-atrial-septal-defect

[5] MedlinePlus. (2021). Atrial septal defect. [online] Available at: https://medlineplus.gov/ency/article/000383.htm

[6] American Heart Association. (2021). Types of atrial septal defects. [online] Available at: https://www.heart.org/en/health-topics/atrial-septal-defect/types-of-atrial-septal-defects

[7] MedlinePlus. (2021). Heart defects present at birth - Overview. [online] Available at: https://medlineplus.gov/ency/article/001530.htm

[8] American Heart Association. (2021). What causes atrial septal defect? [online] Available at: https://www.heart.org/en/health-topics/atrial-septal-defect/what-causes-atrial-septal-defect

1. A person with Asperger's syndrome, a type of autism, may require regular health checkups as they are more susceptible to other medical conditions, including congenital heart defects like Atrial Septal Defect (ASD).
2. Despite having excellent cardiovascular health and maintaining a heart-healthy diet, a person with ASD may still experience symptoms related to their medical condition, such as shortness of breath, fatigue, and peripheral edema.
3. In addition to monitoring heart-and-wellness issues, individuals with ASD should also be mindful of other heart diseases, as they may have an increased risk due to certain factors such as genetic disorders or complications during pregnancy.

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