Case 288: Uhl Anomaly

Area of Science:

• Cardiology and Cardiovascular Imaging
• Adult Congenital Heart Disease
• Heart Failure Pathophysiology

Background:

• A 46-year-old woman presented with decompensated congestive heart failure and pericardial effusion.
• She had a history of recurrent, non-exercise-related syncope since childhood, with no family history of sudden cardiac death.
• Initial echocardiography revealed normal left ventricular function but significant right ventricular dilation without outflow tract obstruction.

Observation:

• Clinical examination showed elevated venous pressure, normal peripheral pulses, and mild hypotension.
• Electrocardiography indicated sinus rhythm, right bundle branch block, and right atrial dilatation.
• Cardiac MRI quantified severe right ventricular dilation (RVDV/BSA: 164 mL/m²) with a markedly reduced ejection fraction (24%) and massive tricuspid regurgitation (46 mL).

Findings:

• Advanced imaging, including MRI and CT, ruled out pulmonary embolism and confirmed severe right ventricular dysfunction.
• Left ventricular ejection fraction was preserved (47%), but systemic output was diminished relative to pulmonary output.
• The patient's complex cardiac anatomy precluded implantable cardioverter-defibrillator implantation, necessitating conservative management and evaluation for heart transplantation.

Implications:

• This case underscores the importance of comprehensive cardiac imaging in diagnosing and managing complex right ventricular pathology.
• Understanding the long-term sequelae of pediatric cardiac events is crucial for adult cardiology care.
• The findings highlight the challenges in managing heart failure secondary to severe right ventricular dilation and tricuspid regurgitation.