Cardiac amyloidosis presenting as right ventricular failure: a case report

Area of Science:

• Cardiology
• Nephrology
• Oncology

Background:

• A 38-year-old female with end-stage renal failure due to Granulomatosis with polyangiitis (GPA) presented with exertional dyspnea.
• Past medical history included GPA in remission, renal transplant with allograft nephropathy, and hypertension.

Purpose of the Study:

• To investigate the cause of exertional dyspnea and right ventricular dysfunction in a patient with complex medical history.
• To determine the underlying etiology of cardiac dysfunction and guide appropriate treatment.

Main Methods:

• Transthoracic echocardiography revealed dilated right ventricle, impaired function, severe tricuspid regurgitation, and pulmonary hypertension.
• Computed tomography pulmonary angiogram and cardiac catheterization excluded pulmonary embolism and shunting.
• Cardiac MRI, pyrophosphate scan, serum myeloma panel, bone marrow aspiration, fat pad biopsy, and endomyocardial biopsy were performed.
• Tissue typing confirmed light chain (AL) lambda type amyloid deposition.

Main Results:

• Echocardiography suggested pulmonary hypertension and right ventricular failure.
• Cardiac MRI showed features suggestive of cardiac amyloidosis.
• Endomyocardial biopsy confirmed cardiac amyloidosis with characteristic congophilia and apple-green birefringence.
• Diagnosis of light chain (AL) lambda type amyloidosis was established.

Conclusions:

• Cardiac amyloidosis can present atypically with isolated right ventricular failure, necessitating a high index of suspicion.
• Persistent diagnostic evaluation, including histology, is crucial for accurate diagnosis and initiation of chemotherapy.
• End-stage renal failure should not deter the use of gadolinium-based contrast imaging with appropriate counseling.