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First Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant. 2023

Camilla Simonsen Lyng, and Einar Gude, and Anders Hodt, and Eva Cecilie Knudsen
Department of Cardiology, Oslo University Hospital, Ullevål, Oslo, Norway.

An earlier healthy 64-year-old man with previous surgery for bilateral carpal tunnel syndrome (CTS) in his 50s, presented with dyspnoea on exertion. Cardiac amyloidosis was suspected due to "red flag" signs and symptoms. Further investigations with scintigraphy and genetic testing confirmed the diagnosis of hereditary ATTR variant (ATTRv) amyloidosis. This is the first case report of ATTRv amyloidosis in a patient of Norwegian origin and is caused by the mutation E54A (p.E74A) in the transthyretin (TTR) gene. This mutation is previously not reported in international databases. Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed disease with a poor prognosis. Early recognition remains essential to afford the best treatment efficacy.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009202 Cardiomyopathies A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). Myocardial Disease,Myocardial Diseases,Myocardial Diseases, Primary,Myocardial Diseases, Secondary,Myocardiopathies,Primary Myocardial Disease,Cardiomyopathies, Primary,Cardiomyopathies, Secondary,Primary Myocardial Diseases,Secondary Myocardial Diseases,Cardiomyopathy,Cardiomyopathy, Primary,Cardiomyopathy, Secondary,Disease, Myocardial,Disease, Primary Myocardial,Disease, Secondary Myocardial,Diseases, Myocardial,Diseases, Primary Myocardial,Diseases, Secondary Myocardial,Myocardial Disease, Primary,Myocardial Disease, Secondary,Myocardiopathy,Primary Cardiomyopathies,Primary Cardiomyopathy,Secondary Cardiomyopathies,Secondary Cardiomyopathy,Secondary Myocardial Disease
D011228 Prealbumin A tetrameric protein, molecular weight between 50,000 and 70,000, consisting of 4 equal chains, and migrating on electrophoresis in 3 fractions more mobile than serum albumin. Its concentration ranges from 7 to 33 per cent in the serum, but levels decrease in liver disease. Proalbumin,Transthyretin
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016896 Treatment Outcome Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series. Rehabilitation Outcome,Treatment Effectiveness,Clinical Effectiveness,Clinical Efficacy,Patient-Relevant Outcome,Treatment Efficacy,Effectiveness, Clinical,Effectiveness, Treatment,Efficacy, Clinical,Efficacy, Treatment,Outcome, Patient-Relevant,Outcome, Rehabilitation,Outcome, Treatment,Outcomes, Patient-Relevant,Patient Relevant Outcome,Patient-Relevant Outcomes
D028227 Amyloid Neuropathies, Familial Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN. Familial Amyloid Polyneuropathies,Amyloid Neuropathy Type 1,Amyloid Polyneuropathy, British Type,Amyloid Polyneuropathy, Iowa Type,Amyloid Polyneuropathy, Swiss Type,Appalachian Type Familial Amyloid Polyneuropathy,British Type Amyloid Polyneuropathy,Cerebral Amyloid Angiopathy, British Type,Familial Amyloid Neuropathy, Andrade Type,Familial Amyloid Neuropathy, Finnish Type,Familial Amyloid Neuropathy, Portuguese Type,Familial Amyloid Polyneuropathy, Appalachian Type,Familial Amyloid Polyneuropathy, Jewish Type,Familial Amyloid Polyneuropathy, Type I,Familial Amyloid Polyneuropathy, Type II,Familial Amyloid Polyneuropathy, Type III,Familial Amyloid Polyneuropathy, Type IV,Familial Amyloid Polyneuropathy, Type V,Familial Amyloid Polyneuropathy, Type VI,Familial Portuguese Polyneuritic Amyloidosis,Finnish Type Familial Amyloid Neuropathy,Hereditary Neuropathic Amyloidosis,Iowa Type Amyloid Polyneuropathy,Jewish Type Familial Amyloid Polyneuropathy,Neuropathic Amyloid Syndrome,Polyneuritic Amyloidosis, Portuguese,Portuguese Polyneuritic Amyloidosis,Portuguese Type Familial Amyloid Neuropathy,Swiss Type Amyloid Polyneuropathy,Type I Familial Amyloid Polyneuropathy,Type II Familial Amyloid Polyneuropathy,Type III Familial Amyloid Polyneuropathy,Type IV Familial Amyloid Polyneuropathy,Type V Familial Amyloid Polyneuropathy,Type VI Familial Amyloid Polyneuropathy,Wohlwill-Andrade Syndrome,Wohlwill-Corino Andrade Syndrome,Amyloid Neuropathy, Familial,Amyloid Polyneuropathies, Familial,Amyloid Polyneuropathy, Familial,Amyloid Syndrome, Neuropathic,Amyloid Syndromes, Neuropathic,Amyloidoses, Hereditary Neuropathic,Amyloidoses, Portuguese Polyneuritic,Amyloidosis, Hereditary Neuropathic,Amyloidosis, Portuguese Polyneuritic,Familial Amyloid Neuropathies,Familial Amyloid Neuropathy,Familial Amyloid Polyneuropathy,Hereditary Neuropathic Amyloidoses,Neuropathic Amyloid Syndromes,Neuropathic Amyloidoses, Hereditary,Neuropathic Amyloidosis, Hereditary,Neuropathies, Familial Amyloid,Neuropathy, Familial Amyloid,Polyneuritic Amyloidoses, Portuguese,Polyneuropathies, Familial Amyloid,Polyneuropathy, Familial Amyloid,Portuguese Polyneuritic Amyloidoses,Wohlwill Andrade Syndrome,Wohlwill Corino Andrade Syndrome

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