Minimal assessment of the index case: the point of view of the cardiologist

TTR familial amyloidosis is a systemic disease, with a frequent cardiac involvement For clinical reasons – related to its prolonged latency and historical reasons – as the first cases where diagnosed by neurologists, in young patients who died from neurological disease before cardiac complications occurredfamilial cardiac amyloidosis (TTR-FAC) has been and still remains underestimated. It is known to be responsible of 40% of mid-term deaths after liver transplantation. TTR-FAC appears irreversible; it can progress after liver transplantation, and is associated with a poor prognosis. Hence the heart deserves a special attention when taking in charge patients with familial amyloidosis, especially since there are several new promising therapeutic options. When following patients with a TTR mutation, the occurrence of a cardiac disease can be anticipated considering gene mutation (opposing the so called cardiac vs neurologic mutations), family history, and age, but as it can be observed in all types of mutations, with various frequencies, it can never be ruled out beforehand. The initial workup of those patients should take into account: