Cardiac MRI detection of a rare case of familial cardiac amyloidosis (Ser23Asn): case report with literature review

Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review

“…According to the medical history, no other family members were diagnosed with amyloidosis or cardiac disease including the close relatives of patient's mother but no information existed regarding the Italian father of the patient and his ancestors. Daoko et al found the same variant in a 41-year-old male patient originating from Peru presenting with angina and dyspnea (Daoko et al, 2010). The patient had a family history of sudden cardiac death (mother and two brothers in Peru) due to presumed hypertrophic cardiomyopathy (HCM).…”

Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: A Series of Cases

“…Similarly, in another review of clinical cases published by Colombian authors who highlight the relevance of the use of the Technetium 99 pyrophosphate scintigraphy technique for the diagnosis of hereditary transthyretinal amyloidosis in a 41-year-old Ecuadorian patient with symptoms of fatigue, difficulty breathing and peripheral neuropathy, whose identified variant corresponds to Ser23ASn that possibly has Spanish origin. Different researchers mention a possible origin of the variant in Portugal, Spain and Italy [9]; It is difficult to know precisely the origin of the variant and its presence is attributed to migration and colonization processes; with a possible founding effect in the province of Loja, particularly in the Quilanga canton.…”