Research ExplorerPublicationsHereditäre kardiale Amyloidosen mit Mutationen des Transthyr...

Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes

Standard

Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes. / Edler, C; Saeger, Wolfgang; Orth, U; Braun, C; Wulff, B; Sperhake, J.

In: HERZ, Vol. 37, No. 4, 01.06.2012, p. 456-60.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Edler, C, Saeger, W, Orth, U, Braun, C, Wulff, B & Sperhake, J 2012, 'Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes', HERZ, vol. 37, no. 4, pp. 456-60. https://doi.org/10.1007/s00059-011-3566-9

APA

Edler, C., Saeger, W., Orth, U., Braun, C., Wulff, B., & Sperhake, J. (2012). Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes. HERZ, 37(4), 456-60. https://doi.org/10.1007/s00059-011-3566-9

Vancouver

Edler C, Saeger W, Orth U, Braun C, Wulff B, Sperhake J. Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes. HERZ. 2012 Jun 1;37(4):456-60. https://doi.org/10.1007/s00059-011-3566-9

Bibtex

@article{ca226702708d40a398a02b93bbdaa5f4,
title = "Heredit{\"a}re kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des pl{\"o}tzlichen Todes",
abstract = "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.",
keywords = "Amyloidosis, Familial, Death, Sudden, Cardiac, Genetic Predisposition to Disease, Heart Diseases, Humans, Male, Middle Aged, Mutation, Prealbumin",
author = "C Edler and Wolfgang Saeger and U Orth and C Braun and B Wulff and J Sperhake",
year = "2012",
month = jun,
day = "1",
doi = "10.1007/s00059-011-3566-9",
language = "Deutsch",
volume = "37",
pages = "456--60",
journal = "HERZ",
issn = "0340-9937",
publisher = "Urban und Vogel",
number = "4",

}

RIS

TY - JOUR

T1 - Hereditäre kardiale Amyloidosen mit Mutationen des Transthyretin. Ursache des plötzlichen Todes

AU - Edler, C

AU - Saeger, Wolfgang

AU - Orth, U

AU - Braun, C

AU - Wulff, B

AU - Sperhake, J

PY - 2012/6/1

Y1 - 2012/6/1

N2 - 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.

AB - 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.

KW - Amyloidosis, Familial

KW - Death, Sudden, Cardiac

KW - Genetic Predisposition to Disease

KW - Heart Diseases

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Prealbumin

U2 - 10.1007/s00059-011-3566-9

DO - 10.1007/s00059-011-3566-9

M3 - SCORING: Zeitschriftenaufsatz

C2 - 22301727

VL - 37

SP - 456

EP - 460

JO - HERZ

JF - HERZ

SN - 0340-9937

IS - 4

ER -