Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Ursula MooreRoberto Fernandez-TorronMarni B JacobsHeather Gordish-DressmanJordi Díaz-ManeraMeredoith K JamesAnna G MayhewElizabeth HarrisMichela GuglieriLaura E RufibachJia FengAndrew M BlamirePierre G CarlierSimone SpulerJohn W DayKristi J JonesDiana X Bharucha-GoebelEmmanuelle Salort-CampanaAlan PestronkMaggie C WalterCarmen ParadasTanya StojkovicMadoka Mori-YoshimuraElena BravverElena PegoraroLinda Pax LowesJerry R MendellKate Bushbynull nullJohn BourkeVolker StraubPublished in: Muscle & nerve (2022)
These results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow-up should include FVC measurement, enquiry about arrhythmia symptoms and peripheral pulse palpation to assess cardiac rhythm. However, periodic specialist cardiac review is probably not warranted unless prompted by symptoms or abnormal pulse findings.