Transthyretin ILE20, a new variant associated with late‐onset cardiac amyloidosis

Jacobson, Daniel R.; Pan, Timothy; Kyle, Robert A.; Buxbaum, Joel N.

doi:10.1002/(sici)1098-1004(1997)9:1<83::aid-humu19>3.3.co;2-j

Cited by 8 publications

(9 citation statements)

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“…Several cases of hereditary ATTR amyloidosis have now been reported with a late disease onset [18], e.g. the p.Val20Ile mutation is thought to be associated with a late-onset cardiac amyloidosis [35]. Thus, it is important to emphasize that patient age does not exclude heredity [19] and that genetic counseling should be considered independent from patient age.…”

Section: Hereditary Attr Amyloidosismentioning

confidence: 99%

Amyloid in endomyocardial biopsies

et al. 2010

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The prognosis of cardiac amyloidosis depends on the nature and origin of the amyloid protein deposited. However, little is known about the prevalence and origin of amyloid in heart muscle biopsies. We therefore examined retrospectively the distribution and origin of amyloid in a consecutive series of endomyocardial biopsies. Endomyocardial biopsies with verified presence of amyloid from 101 patients were included. Amyloid was classified immunohistochemically in each of them. Our collective comprised 63 men and 38 women, with a mean age of 66 years (range 37-85 years). Cardiac amyloidosis was the most common of the AL (54 patients) or ATTR type (42 patients). In five individuals, amyloid remained unclassified. AL amyloidosis was subdivided into ALlambda (45 patients) and ALkappa amyloid (nine patients). AA amyloid was not found in any individual. The amount of amyloid was higher in AL than in ATTR amyloidosis. Genomic DNA was extracted and examined by DNA sequencing in 19 patients with ATTR amyloidosis. Five (26%) individuals carried TTR mutations (p.Val20Ile, p.Val30Met (twice), p.Asp39Val and p.Glu54Asp) and were classified as suffering from hereditary ATTR amyloidosis. Amyloid in endomyocardial biopsies is most commonly of immunoglobulin light chain origin, followed by non-hereditary and hereditary-type ATTR amyloid.

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Section: Hereditary Attr Amyloidosismentioning

confidence: 99%

Amyloid in endomyocardial biopsies

et al. 2010

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“…This is the case in senile systemic amyloidosis (SSA) [2], a late onset amyloidosis where the amyloid deposits consist of wild-type TTR. However, amyloidogenic TTR mutations (ATTR), such as ATTR Val122Ile and ATTR Leu111Met, may also cause clinical syndromes where heart involvement is a dominating clinical feature [3,4]. In addition, heart involvement is a component of familial amyloidotic polyneuropathy (FAP) caused by the ATTR Val30Met mutation [5,6].…”

Section: Introductionmentioning

confidence: 99%

Myocardial hypertrophy and function are related to age at onset in familial amyloidotic polyneuropathy

Suhr

Lindqvist

Olofsson

et al. 2006

Amyloid

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Heart complications are frequently encountered in hereditary transthyretin amyloidosis. Lately, reports of late onset familial amyloid polyneuropathy (FAP) cases presenting with a phenotype similar to that observed in senile systemic amyloidosis have emerged. The aim of the present study was to evaluate morphological and functional features of the heart by echocardiography including myocardial strain measurements, and to compare the outcome for early with those of late onset FAP cases. Eighty-one biopsy and genetically proven FAP, ATTR Val30Met patients were investigated with two-dimensional, M-mode echocardiography and myocardial strain with special attention to inter-ventricular septum (IVS) thickness. IVS thickness was closely related to the age at onset (P < 0.0001), but not to duration of disease. Seventeen percent of the patients had severe left ventricular hypertrophy (IVS > 15 mm). These patients were all late onset cases and represented 39% of all of the late onset cases. Strain measurements were also closely related to IVS thickness and age at onset thereby signifying a decreased function of the heart muscle in late onset cases. From the present investigation it appears that late onset Swedish FAP-cases more readily develop cardiomyopathy with an increased IVS thickness. Different pathways for amyloid formation in the heart may operate in early and late onset cases.

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“…Die Val20Ile-Variante führte in den wenigen bisher beschriebenen Fällen immer zu einem kardialen Befall [5,20,21] …”

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Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin

Edler

Saeger

Orth

et al. 2012

Herz

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Hereditary amyloidoses present a clinically and genetically heterogeneous group of autosomal dominant diseases. The most frequent form is associated with mutations of the transthyretin gene. The type of mutation determines the process, the organs primarily involved as well as the time of onset of the disease. Life expectancy is generally limited by the degree of cardiomyopathy. The cases of two male patients who died suddenly and unexpectedly are presented. In both cases, autopsy revealed a biventricular cardiac hypertrophy. Cardiac amyloidosis was diagnosed by means of histologic and genetic analysis. Early diagnosis is essential for those affected, since liver transplantation still represents the only effective treatment. This illustrates the benefit of autopsy investigations for surviving relatives, who may themselves be affected by the disease.

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Transthyretin ILE20, a new variant associated with late‐onset cardiac amyloidosis

Cited by 8 publications

References 0 publications

Amyloid in endomyocardial biopsies

Amyloid in endomyocardial biopsies

Myocardial hypertrophy and function are related to age at onset in familial amyloidotic polyneuropathy

Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin

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