Val122Ile mt-ATTR Has a Worse Survival Than wt-ATTR Cardiac Amyloidosis

Singh, Avinainder; Geller, Hallie I.; Falk, Rodney H.

doi:10.1016/j.jacc.2016.09.987

Cited by 13 publications

(10 citation statements)

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“…A formal bias assessment of identified studies is provided in online supplementary Table . The individual studies and the extracted aggregate data are summarized in Table 2 2,3,10,11,13,26,27,29,30,52,54,65,71,78–158 . An exponential growth in the annual publication of studies on clinical outcomes of ATTR was observed over the recent years ( Figure ).…”

Section: Resultsmentioning

confidence: 99%

“…The individual studies and the extracted aggregate data are summarized in Table 2. 2,3,10,11,13,26,27,29,30,52,54,65,71, An exponential growth in the annual publication of studies on clinical outcomes of ATTR was observed over the recent years (Figure 3A). such as China, there is paucity of clinical data.…”

Section: Geographical Availability Of Prospective Outcome Data In Tra...mentioning

confidence: 99%

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Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta‐analysis

Antonopoulos

Panagiotopoulos

Kouroutzoglou

et al. 2022

European J of Heart Fail

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Section: Resultsmentioning

confidence: 99%

Section: Geographical Availability Of Prospective Outcome Data In Tra...mentioning

confidence: 99%

Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta‐analysis

Antonopoulos

Panagiotopoulos

Kouroutzoglou

et al. 2022

European J of Heart Fail

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“…Although patients often present multisystemic involvement including peripheral nerves, autonomic nervous system, and heart, 2,4 V122I main clinical expression is a late-onset hypertrophic restrictive cardiomyopathy, invariably leading to heart failure. 5 Heart involvement seems to be more severe in V122I patients respect to those with wild-type transthyretin cardiac amyloidosis, with a significantly shorter life expectancy, 6,7 and in V122I homozygous than to V122I heterozygous subjects, with symptoms starting significantly earlier in the former. 8 Apparently peripheral nerves involvement is not remarkable, with mild or no neurological symptoms or signs.…”

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confidence: 99%

Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: Neurological and cardiological features

Gentile

Bella

Minutoli

et al. 2020

J Peripheral Nervous Sys

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V122I is one of more than 130 mutations in transthyretin gene associated with hereditary TTR (ATTRv) amyloidosis. Main clinical expression is an infiltrative pseudohypertrophic cardiomyopathy with mild or no neurological symptoms. It is particularly common among African‐Americans (prevalence: 3%‐4%). We report 12 subjects from seven unrelated Caucasian families hailing from Sicily and carrying the V122I mutation. One patient was homozygous for V122I and in another family two subjects also carried the E89Q variant in compound heterozygosity. All the subjects underwent neurologic/neurophysiologic evaluation and cardiologic baseline tests; in five of them, cardiac magnetic resonance and/or (99 m) Tc‐DPD scintigraphy were performed. Three of 12 subjects were asymptomatic carriers. Of the remaining nine subjects, in four of nine patients, the nerve conduction studies revealed a polyneuropathy; in one of them, this represents the only sign of disease after 5 years of follow‐up. In eight of nine subjects, we found a hypertrophic restrictive cardiomyopathy and cardiac failure, associated with a carpal tunnel syndrome. Although in non‐Afro‐American individuals V122I prevalence is low, subjects carrying this mutation have been identified in the United Kingdom, Italy, and France. Our report describes a large cohort of V122I Caucasian patients from a non‐endemic area, confirming the possible underestimation of this mutation in the non‐African population. Moreover, it highlights the heterogeneity in the genotype‐phenotype correlation of ATTRv mutations, suggesting that the presence of a polyneuropathy has to be identified as soon as possible, since available treatments are, in Europe, so far authorized only for ATTRv amyloid peripheral neuropathy.

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“…There was higher walking disability and more neurologic symptoms (neuropathic pain and tingling) in those with Val122Ile mutations than wildtype ATTR, although the absolute numbers were limited [6]. On the other hand, another study reported that the survival of Val122Ile patients (median survival: 47 months) was significantly shorter than that for wild-type ATTR patients (59 months, hazard ratio: 2.1; 95% confidence interval: 1.2 to 3.6) [7]. Our case was consistent with the clinical features of previously reported Val122Ile mutations in that the patient had late-onset cardiomyopathy without neuropathy and he had cardiac symptoms including dizziness, heart failure, dyspnea, and rhythm disturbance (atrial fibrillation).…”

Section: Discussionmentioning

confidence: 97%

A case of cardiac amyloidosis in an elderly Japanese patient with amyloidogenic transthyretin Val122Ile variant

Ono

Takahashi

Sato

et al. 2020

Journal of Cardiology Cases

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Val122Ile mt-ATTR Has a Worse Survival Than wt-ATTR Cardiac Amyloidosis

Cited by 13 publications

References 1 publication

Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta‐analysis

Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta‐analysis

Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: Neurological and cardiological features

A case of cardiac amyloidosis in an elderly Japanese patient with amyloidogenic transthyretin Val122Ile variant

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