PortalPublikationen[Hereditary cardiac amyloidosis with transthyretin mutations...

[Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ].

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[Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ]. / Edler, Carolin; Saeger, Wolfgang; Orth, Ulrike; Braun, C; Wulff, Birgit; Sperhake, Jan.

in: HERZ, Jahrgang 37, Nr. 4, 4, 2012, S. 456-460.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Edler, C, Saeger, W, Orth, U, Braun, C, Wulff, B & Sperhake, J 2012, '[Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ].', HERZ, Jg. 37, Nr. 4, 4, S. 456-460. <http://www.ncbi.nlm.nih.gov/pubmed/22301727?dopt=Citation>

APA

Edler, C., Saeger, W., Orth, U., Braun, C., Wulff, B., & Sperhake, J. (2012). [Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ]. HERZ, 37(4), 456-460. [4]. http://www.ncbi.nlm.nih.gov/pubmed/22301727?dopt=Citation

Vancouver

Edler C, Saeger W, Orth U, Braun C, Wulff B, Sperhake J. [Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ]. HERZ. 2012;37(4):456-460. 4.

Bibtex

@article{c6ebbafdc2d14558912c29d33904ecbd,
title = "[Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ].",
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 = "Humans, Male, Middle Aged, Mutation/genetics, Genetic Predisposition to Disease/*genetics, Amyloidosis, Familial/*diagnosis/*genetics, Death, Sudden, Cardiac/etiology, Heart Diseases/*diagnosis/*genetics, Prealbumin/*genetics, Humans, Male, Middle Aged, Mutation/genetics, Genetic Predisposition to Disease/*genetics, Amyloidosis, Familial/*diagnosis/*genetics, Death, Sudden, Cardiac/etiology, Heart Diseases/*diagnosis/*genetics, Prealbumin/*genetics",
author = "Carolin Edler and Wolfgang Saeger and Ulrike Orth and C Braun and Birgit Wulff and Jan Sperhake",
year = "2012",
language = "Deutsch",
volume = "37",
pages = "456--460",
journal = "HERZ",
issn = "0340-9937",
publisher = "Urban und Vogel",
number = "4",

}

RIS

TY - JOUR

T1 - [Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ].

AU - Edler, Carolin

AU - Saeger, Wolfgang

AU - Orth, Ulrike

AU - Braun, C

AU - Wulff, Birgit

AU - Sperhake, Jan

PY - 2012

Y1 - 2012

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 - Humans

KW - Male

KW - Middle Aged

KW - Mutation/genetics

KW - Genetic Predisposition to Disease/genetics

KW - Amyloidosis, Familial/diagnosis/genetics

KW - Death, Sudden, Cardiac/etiology

KW - Heart Diseases/diagnosis/genetics

KW - Prealbumin/genetics

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation/genetics

KW - Genetic Predisposition to Disease/genetics

KW - Amyloidosis, Familial/diagnosis/genetics

KW - Death, Sudden, Cardiac/etiology

KW - Heart Diseases/diagnosis/genetics

KW - Prealbumin/genetics

M3 - SCORING: Zeitschriftenaufsatz

VL - 37

SP - 456

EP - 460

JO - HERZ

JF - HERZ

SN - 0340-9937

IS - 4

M1 - 4

ER -