Role of genetic testing in cardiomyopathies: A primer for cardiologists

被引：10

作者：

Vogiatzi, Georgia ^{[1
]}

Lazaros, George ^{[2
]}

Oikonomou, Evangelos ^{[3
]}

Lazarou, Emilia ^{[2
]}

Vavuranakis, Emmanouil ^{[1
]}

Tousoulis, Dimitris ^{[2
]}

机构：

[1] Sotiria Hosp, Dept Cardiol 3, Mesogeion 152, Athens 11527, Greece

[2] Hippokrateion Hosp, Dept Cardiol 1, Athens 11526, Greece

[3] Natl & Kapodistrian Univ Athens, Hippokrat Hosp, Med Sch, Dept Cardiol 1, Athens 11527, Greece

来源：

WORLD JOURNAL OF CARDIOLOGY | 2022年 / 14卷 / 01期

关键词：

Cardiomyopathy; Genetic counselling; Genetic testing; Variant; Hereditary; ANTHRACYCLINE-INDUCED CARDIOTOXICITY; ASSOCIATION TASK-FORCE; SUDDEN CARDIAC DEATH; HYPERTROPHIC CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; AMERICAN-COLLEGE; HEART-FAILURE; RESTRICTIVE CARDIOMYOPATHY; ACCF/AHA GUIDELINE; ESC GUIDELINES;

D O I：

10.4330/wjc.v14.i1.29

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies. As novel mutations have been identified, understanding when to consider genetic testing has emerged as an important consideration in the management of these cases. Specific genetic testing has a paramount importance in the risk stratification of family members, in the prognosis of probands at higher risk of a serious phenotype expression, and finally in the identification of new mutations, all of which are discussed in this review. The indications for each type of cardiomyopathy are described, along with the limitations of genetic testing. Finally, the importance of public sharing of variants in large data sets is emphasized. The ultimate aim of this review is to present key messages about the genetic testing process in order to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team in order to offer the best care to families with inherited cardiomyopathies.

引用

页码：29 / 39

页数：11

共 48 条

[1]

Ackerman M J., Heart Rhythm

[2] Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy [J].

Akinrinade, Oyediran ;

Ollila, Laura ;

Vattulainen, Sanna ;

Tallila, Jonna ;

Gentile, Massimiliano ;

Salmenpera, Pertteli ;

Koillinen, Hannele ;

Kaartinen, Maija ;

Nieminen, Markku S. ;

Myllykangas, Samuel ;

Alastalo, Tero-Pekka ;

Koskenvuo, Juha W. ;

Helio, Tiina .

EUROPEAN HEART JOURNAL, 2015, 36 (34) :2327-2337

[3]

Alfares AA, 2015, GENET MED, V17, P880, DOI [10.1038/gim.2014.205, 10.1038/gim.2015.16]

[4] Recommendations for genetic testing to reduce the incidence of anthracycline-induced cardiotoxicity [J].

Aminkeng, Folefac ;

Ross, Colin J. D. ;

Rassekh, Shahrad R. ;

Hwang, Soomi ;

Rieder, Michael J. ;

Bhavsar, Amit P. ;

Smith, Anne ;

Sanatani, Shubhayan ;

Gelmon, Karen A. ;

Bernstein, Daniel ;

Hayden, Michael R. ;

Amstutz, Ursula ;

Carleton, Bruce C. .

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, 2016, 82 (03) :683-695

[5] A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer [J].

Aminkeng, Folefac ;

Bhavsar, Amit P. ;

Visscher, Henk ;

Rassekh, Shahrad R. ;

Li, Yuling ;

Lee, Jong W. ;

Brunham, Liam R. ;

Caron, Huib N. ;

van Dalen, Elvira C. ;

Kremer, Leontien C. ;

van der Pal, Helena J. ;

Amstutz, Ursula ;

Rieder, Michael J. ;

Bernstein, Daniel ;

Carleton, Bruce C. ;

Hayden, Michael R. ;

Ross, Colin J. D. .

NATURE GENETICS, 2015, 47 (09) :1079-+

[6] The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy Endorsed by the World Heart Federation [J].

Arbustini, Eloisa ;

Narulay, Navneet ;

Dec, G. William ;

Reddy, K. Srinath ;

Greenberg, Barry ;

Kushwaha, Sudhir ;

Marwick, Thomas ;

Pinney, Sean ;

Bellazzi, Riccardo ;

Favalli, Valentina ;

Kramer, Christopher ;

Roberts, Robert ;

Zoghbi, William A. ;

Bonow, Robert ;

Tavazzi, Luigi ;

Fuster, Valentin ;

Narula, Jagat .

GLOBAL HEART, 2013, 8 (04) :355-382

[7] A Prospective Study of Sudden Cardiac Death among Children and Young Adults [J].

Bagnall, R. D. ;

Weintraub, R. G. ;

Ingles, J. ;

Duflou, J. ;

Yeates, L. ;

Lam, L. ;

Davis, A. M. ;

Thompson, T. ;

Connell, V. ;

Wallace, J. ;

Naylor, C. ;

Crawford, J. ;

Love, D. R. ;

Hallam, L. ;

White, J. ;

Lawrence, C. ;

Lynch, M. ;

Morgan, N. ;

James, P. ;

du Sart, D. ;

Puranik, R. ;

Langlois, N. ;

Vohra, J. ;

Winship, I. ;

Atherton, J. ;

McGaughran, J. ;

Skinner, J. R. ;

Semsarian, C. .

NEW ENGLAND JOURNAL OF MEDICINE, 2016, 374 (25) :2441-2452

[8]

BENNETT RL, 1995, AM J HUM GENET, V56, P745, DOI 10.1007/BF01408073

[9] Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy [J].

Broch, Kaspar ;

Andreassen, Arne K. ;

Hopp, Einar ;

Leren, Trond P. ;

Scott, Helge ;

Muller, Fredrik ;

Aakhus, Svend ;

Gullestad, Lars .

OPEN HEART, 2015, 2 (01)

[10] Temporal Relationship of Conduction System Disease and Ventricular Dysfunction in LMNA Cardiomyopathy [J].

Brodt, Chad ;

Siegfried, Jill D. ;

Hofmeyer, Mark ;

Martel, Jose ;

Rampersaud, Evadnie ;

Li, Duanxiang ;

Morales, Ana ;

Hershberger, Ray E. .

JOURNAL OF CARDIAC FAILURE, 2013, 19 (04) :233-239

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