A combination of right ventricular hypertrabeculation/noncompaction and atrial septal defect

Area of Science:

• Cardiology
• Cardiovascular Medicine
• Echocardiography

Background:

• Atrial Septal Defect (ASD) is a congenital heart condition often diagnosed in childhood.
• Long-term, uncorrected ASD can lead to significant right heart volume overload.
• Neuroendocrine adaptations, including increased sympathetic activity, occur in response to chronic volume overload.

Observation:

• A 39-year-old male presented with eight years of activity-associated chest distress and breathlessness.
• Transthoracic echocardiography revealed a dilated, hypokinetic right ventricle with impaired function (area change fraction 26%).
• Prominent right ventricular trabeculations and a dilated right atrium were noted, consistent with chronic volume overload.

Findings:

• The patient's symptoms and echocardiographic findings suggest acquired right ventricular hypokinesis/non-compaction (HVM/NVM) secondary to long-standing ASD.
• Left ventricular function remained normal (ejection fraction 63%).
• Tachycardia and increased myocardial tension from right ventricular dilatation likely contributed to subendocardial ischemia.

Implications:

• This case underscores the potential for adult presentation of complications arising from congenital heart defects.
• Understanding the pathophysiology of long-term ASD is vital for diagnosing and managing related cardiac dysfunction.
• Prompt recognition and treatment of ASD may prevent the development of severe right ventricular impairment and associated symptoms.