Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases

被引:0
|
作者
Krebsova, Alice [1 ]
Kutilkova, Eva [1 ]
Zoubkova, Veronika [2 ,3 ]
Tavacova, Terezia [3 ,4 ]
Peldova, Petra [2 ,3 ]
Piherova, Lenka [5 ,6 ]
Votypka, Pavel [2 ,3 ]
Kucerova, Stepanka Pohlova [7 ,8 ]
Grochova, Ilga [9 ,10 ]
Gregorova, Andrea [11 ]
Zakova, Daniela [12 ,13 ]
Freiberger, Tomas [12 ,13 ]
Janousek, Jan [3 ,4 ]
Novotny, Tomas [14 ,15 ]
Macek, Milan [2 ,3 ]
机构
[1] ERN GUARD Heart, Inst Klin & Expet Med, Klin Kardiol, Ctr Dedicnych Kardiovaskularnich Onemocneni, Prague, Czech Republic
[2] Univ Karlovy, Lekarska Fak 2, Ustav Biol & Lekarske Genet, Prague, Czech Republic
[3] ERN ITHACA, Prague, Czech Republic
[4] Univ Karlovy, Lekarska Fak 2, Detske Kardioctr, Prague, Czech Republic
[5] Univ Karlovy, Lekarska Fak 1, Klin Deti & Dorostu, Prague, Czech Republic
[6] Vseobecna Fak Nemocnice Praze, Prague, Czech Republic
[7] Univ Karlovy, Ustav Soudniho Lekarstvi, Lekarska Fak, Hradec Kralove, Czech Republic
[8] Fak Nemocnice Hradec Kralove, Hradec Kralove, Czech Republic
[9] Fak Nemocnice U SV Anny Brne, Interni Kardioangiol Klin 1, Brno, Czech Republic
[10] Ctr Prenatalni Diag Brno, Brno, Czech Republic
[11] Ustav Klin Mol Patol & Lekarske Genet UKMPLG, Fak Nemocnice Ostrava, Ostrava, Czech Republic
[12] Lekarska Fak Masarykovy Univ, Brno, Czech Republic
[13] Ctr Kardiovaskularni & Transplantacni Chirurg Brn, Brno, Czech Republic
[14] Masarykovy Univ, Lekarska Fak, Interni Kardiol Klin, Brno, Czech Republic
[15] Fak Nemocnice Brno, Brno, Czech Republic
关键词
Genetic analysis; Family cascade screening; Inherited cardiovascular diseases; POSITION STATEMENT; WORKING GROUP; CARDIOMYOPATHIES; GUIDELINES; SCORE;
D O I
10.33678/cor.2023.057
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
In contemporary cardiology, genetics is mainly applied to cardiovascular diseases with Mendelian inheritance. These diseases include cardiomyopathy, hereditary forms of arrhythmic syndromes, aortic syndromes, and some congenital developmental defects. The common risk of all mentioned groups of diseases is sudden cardiac death, which is why post-mortem examination and care for relatives and survivors are an important part. The goal of clinical genetic examination and genetic counselling in cardiology is to carry out a detailed description of the disease - phenotyping, compiling a family tree, cascade cardiology screening in the family and, in indicated cases, molecular genetic diagnosis - genotyping. Knowledge of the molecular nature of genetic diseases opens up the possibilities of the so-called molecular genetic stratification of diseases, the goal of which is personalized care for patients and their relatives. Cardiogenetic examination is a complex matter, where it is necessary to build interdisciplinary teams. Communication between individual experts and teams on a national scale is absolutely essential to ensure care for patients with rare and very rare forms of hereditary disease.
引用
收藏
页码:798 / 805
页数:8
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