Positive family history decreases diagnosis time by over 200%

Brown, Emily; Fajardo, Johana; Judge, Daniel P.

doi:10.1080/13506129.2019.1582484

Cited by 3 publications

(2 citation statements)

References 3 publications

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“… 25 Heterozygosity is enough to prompt disease manifestations, although reduced penetrance and variable expression make family history an unreliable factor in recognizing ATTRv except among individuals and families with early-onset ATTRh. 26 These mutations tend to cluster into geographic or ethnic groups with an autosomal-dominant pattern of inheritance. 10 In the US, the most common TTR mutations are Val122Ile, Thr60Ala, and Val30Met, whereas the most common TTR mutations worldwide are Val30Met, Val122Ile, and Glu89Gln.…”

Section: Geneticsmentioning

confidence: 99%

ATTR Epidemiology, Genetics, and Prognostic Factors

Chukwuemeka

Mostertz

Griffin

et al. 2022

Methodist DeBakey Cardiovascular Journal

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Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed disease and an underestimated cause of both heart failure and conduction abnormalities. It is characterized by pathologic accumulation of extracellular protein arising from unstable transthyretin (TTR) tetramers, which dissociate into monomers that misfold, aggregate, and form insoluble fibrils that are resistant to proteolysis. Cardiac amyloidosis appears in two distinct forms: hereditary and wild-type. There is considerable heterogeneity in the clinical presentation of ATTR, ranging from primarily cardiac, primarily neuropathic, or mixed cardiac and neuropathic disease. Pathogenic variants in the TTR gene that predominantly involve the heart include Val122Ile, Leu111Met, and Ile68Leu. The wild-type form of ATTR is also predominantly cardiac. Phenotypic heterogeneity is linked to differences among specific pathogenic TTR variants, geography, and the subtype of endemic versus nonendemic disease. Factors contributing to wild-type ATTR are largely unknown, but similar factors likely influence the penetrance of hereditary ATTR. Recognition of ATTR-CM is improving due to the increased use of cardiac scintigraphy as a noninvasive diagnostic tool, and early recognition of cardiac infiltration is crucial to optimize long-term prognosis.

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Section: Geneticsmentioning

confidence: 99%

ATTR Epidemiology, Genetics, and Prognostic Factors

Chukwuemeka

Mostertz

Griffin

et al. 2022

Methodist DeBakey Cardiovascular Journal

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“…Több mint 130 patogén mutáció ismert, amely az ATTRv-hez köthető (17). Autoszomális domináns öröklődést mutat, de a penetranciája a betegségnek változó lehet, így a családi anamnézisre egyértelműen nem támaszkodhatunk a diagnosztika során (18). Bizonyos mutációk halmozottan fordulhatnak elő egyes népcsoportokban.…”

Section: Szívérintettséggel Járó Amiloidtípusokunclassified

A szívamyloidosis diagnosztikájának és terápiájának aktualitásai : Az ESC Myocardial and Pericardial Diseases Munkacsoportjának 2021-es position statementje alapján

Takács¹,

Nagy²,

Rácz³

et al. 2022

Cardiologia Hungarica

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A szívamyloidosis egy súlyos, progresszív, infiltratív betegség, amelyet amiloidfibrillumok szívizomban való lerakódása okoz. Hátterében általában hematológiai, krónikus gyulladásos betegségek, illetve genetikai eltérések állhatnak, de az időskorban jellemző forma esetében a pontos ok ismeretlen. Az utóbbi években a modern képalkotó eljárásoknak és a noninvazív diagnosztika lehetőségének, valamint az egyre több, hatásos betegség specifikus terápiának köszönhetően növekszik a diagnosztizált esetek száma, így feltételezhetően a kórkép a korábban gondolthoz képest gyakoribb eltérés lehet. Sorra jelentek meg a diagnosztikus és terápiás algoritmusok a közelmúltban, így 2021-ben az ESC Myocardial and Pericardial Diseases Munkacsoportja egy áttekintő közleményt adott ki a jelenleg alkalmazandó irányelvekről.

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Transthyretin Stabilizers and Seeding Inhibitors as Therapies for Amyloid Transthyretin Cardiomyopathy

et al. 2023

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Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a progressive and increasingly recognized cause of heart failure which is associated with high mortality and morbidity. ATTR-CM is characterized by the misfolding of TTR monomers and their deposition within the myocardium as amyloid fibrils. The standard of care for ATTR-CM consists of TTR-stabilizing ligands, such as tafamidis, which aim at maintaining the native structure of TTR tetramers, thus preventing amyloid aggregation. However, their efficacy in advanced-staged disease and after long-term treatment is still a source of concern, suggesting the existence of other pathogenetic factors. Indeed, pre-formed fibrils present in the tissue can further accelerate amyloid aggregation in a self-propagating process known as “amyloid seeding”. The inhibition of amyloidogenesis through TTR stabilizers combined with anti-seeding peptides may represent a novel strategy with additional benefits over current therapies. Finally, the role of stabilizing ligands needs to be reassessed in view of the promising results derived from trials which have evaluated alternative strategies, such as TTR silencers and immunological amyloid disruptors.

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Positive family history decreases diagnosis time by over 200%

Cited by 3 publications

References 3 publications

ATTR Epidemiology, Genetics, and Prognostic Factors

ATTR Epidemiology, Genetics, and Prognostic Factors

A szívamyloidosis diagnosztikájának és terápiájának aktualitásai : Az ESC Myocardial and Pericardial Diseases Munkacsoportjának 2021-es position statementje alapján

Transthyretin Stabilizers and Seeding Inhibitors as Therapies for Amyloid Transthyretin Cardiomyopathy

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