Coronary Ectasia in Amyloid Cardiomyopathy and Neuropathy Due to the Transthyretin Mutation C.323a>g

BACKGROUND:atrial fibrillation(AF) is a frequent manifestation of cardiac involvement in genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA). However, ectasia of coronary arteries and ablation for AF have not been reported in TTR-FA.METHODS AND RESULTS:A 65yo male developed progressive sensori-motor polyneuropathy since age 59y. At age 60y bifascicular block and myocardial thickening were recognised. At age 62y heart failure developed and work-up with cardiac MRI suggested amyloidosis but biopsy was non-informative. Coronary angiography revealed ectasias of the coronary arteries. At age 65y AF developed, neither responding to electrical cardioversion nor ablation. Work-up for polyneuropathy revealed the point mutation c.323A>G (p.His108Arg) in the TTR-gene. Tafamidis was started but did not exhibit a beneficial effect after 7 months.CONCLUSIONS:TTR-FA may manifest in the coronary arteries with ectasia. Ablation for AF in TTR-FA may be unsuccessful. Tafamidis has been unsuccessful for cardiac or nerve involvement after the first seven months.