Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hereditary Transthyretin (ATTR) Amyloidosis

System/ConcernEvaluationComment
Neurologic Complete neurologic assessment incl baseline nerve conduction studies
Cardiac EchocardiogramTo evaluate ventricular wall thickness, ventricular septal thickness, diastolic & systolic function, & longitudinal strain
ElectrocardiogramTo evaluate for low voltage in the standard limb leads & QS pattern in the right precordial leads w/ or w/out conduction blocks
Myocardial technetium-99m-pyrophosphate scintigraphyTo visualize amyloid deposition in heart
CNS
  • Gadolinium-enhanced MRI of brain & spinal cord
  • Amyloid PET imaging using PiB
To evaluate CNS amyloidosis
Ophthalmologic Ophthalmologic evalEvaluate for vitreous opacities & glaucoma.
Nephrologic Routine blood & urine exams for eval of renal function
Other Consultation w/clinical geneticist &/or genetic counselor

PiB = Pittsburgh compound B

From: Hereditary Transthyretin Amyloidosis

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