What is the most likely cause of progressive exertional dyspnea and fatigue in a 30-year-old man with a history of tetralogy of Fallot (a congenital heart defect) repair, presenting with a grade 2/6 decrescendo diastolic murmur at the left sternal border?

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Differential Diagnosis

The patient's symptoms of progressive exertional dyspnea and fatigue, along with the physical examination findings, suggest a cardiac etiology. The history of tetralogy of Fallot with repair is a crucial factor in narrowing down the differential diagnosis.

  • Single most likely diagnosis

    • E. Pulmonic regurgitation: This is the most likely cause of the patient's symptoms. The patient has a history of tetralogy of Fallot repair, which often involves placement of a transannular patch, leading to pulmonic regurgitation. The decrescendo diastolic murmur that increases with inspiration, heard at the left sternal border, is consistent with pulmonic regurgitation.
  • Other Likely diagnoses

    • F. Tricuspid regurgitation: Although less likely, tricuspid regurgitation could be a contributing factor to the patient's symptoms, especially if there is residual or recurrent right ventricular outflow tract obstruction or other abnormalities affecting right ventricular function.
    • A. Aortic regurgitation: Aortic regurgitation could be considered, especially if there were any issues with the aortic valve during the initial repair or subsequent interventions. However, the murmur's characteristics and location are not as typical for aortic regurgitation.
  • Do Not Miss

    • B. Atrial septal defect: Although the patient had tetralogy of Fallot repair, which typically involves closure of any septal defects, residual or recurrent defects could occur. An atrial septal defect could lead to similar symptoms and should be considered to avoid missing a potentially significant lesion.
    • D. Mitral stenosis: Mitral stenosis is less likely given the patient's history and the absence of typical symptoms like orthopnea or paroxysmal nocturnal dyspnea, but it should not be entirely dismissed without further evaluation, especially if there are any concerns about left-sided heart disease.
  • Rare diagnoses

    • C. Left atrial myxoma: This is a rare cardiac tumor that could potentially cause obstructive symptoms and murmurs. However, it is much less likely in this context, given the patient's history of tetralogy of Fallot and the specific characteristics of the murmur described.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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