Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis.

Important clinical differences exist between ATTRv genotypes. While V122I is perceived to be a cardiac disease, peripheral neuropathy is common and clinically relevant. Most patients with V30M and V122I were diagnosed de-novo and therefore require clinical suspicion for diagnosis.A history of CTS and a positive Romberg sign are helpful diagnostic clues.