Peter Marstrand1,2, Kermshlise Picard1, Neal K Lakdawala3. 1. Cardiovascular Division, Brigham and Women's Hospital, 75 Francis Street, Boston, MA, 02115, USA. 2. Department of Cardiology, Herlev-Gentofte Hospital, University Hospital of Copenhagen, København, Denmark. 3. Cardiovascular Division, Brigham and Women's Hospital, 75 Francis Street, Boston, MA, 02115, USA. nlakdawala@bwh.harvard.edu.
Abstract
PURPOSE OF REVIEW: Genetic studies have identified an increasing number of culprit disease genes in patients with dilated cardiomyopathy (DCM). While these studies were originally conducted in patients with primary DCM, recent research has identified culprit mutations among patients who develop DCM in response to an environmental exposure. This review will summarize the genetic architecture of DCM secondary to alcohol, anthracyclines, and pregnancy, as well as the potential modifying role of exercise. RECENT FINDINGS: Mutations in DCM-associated genes are identified in 10-20% of patients categorized as having a secondary cardiomyopathy, a similar frequency to patients with primary DCM. The most commonly mutated gene is TTN, which encodes the sarcomere protein titin. Clinical outcomes differ among patients with or without an identifiable mutation. Genetic contributors should be sought in patients with presumed secondary cardiomyopathy. Future studies are necessary to determine the prospective management of previously unaffected patients known to have a DCM-associated mutation at the time of pregnancy or exposure to cardiotoxins.
PURPOSE OF REVIEW: Genetic studies have identified an increasing number of culprit disease genes in patients with dilated cardiomyopathy (DCM). While these studies were originally conducted in patients with primary DCM, recent research has identified culprit mutations among patients who develop DCM in response to an environmental exposure. This review will summarize the genetic architecture of DCM secondary to alcohol, anthracyclines, and pregnancy, as well as the potential modifying role of exercise. RECENT FINDINGS: Mutations in DCM-associated genes are identified in 10-20% of patients categorized as having a secondary cardiomyopathy, a similar frequency to patients with primary DCM. The most commonly mutated gene is TTN, which encodes the sarcomere protein titin. Clinical outcomes differ among patients with or without an identifiable mutation. Genetic contributors should be sought in patients with presumed secondary cardiomyopathy. Future studies are necessary to determine the prospective management of previously unaffected patients known to have a DCM-associated mutation at the time of pregnancy or exposure to cardiotoxins.
Authors: Simona Costanzo; Augusto Di Castelnuovo; Maria Benedetta Donati; Licia Iacoviello; Giovanni de Gaetano Journal: J Am Coll Cardiol Date: 2010-03-30 Impact factor: 24.094
Authors: Alice H Lichtenstein; Lawrence J Appel; Michael Brands; Mercedes Carnethon; Stephen Daniels; Harold A Franch; Barry Franklin; Penny Kris-Etherton; William S Harris; Barbara Howard; Njeri Karanja; Michael Lefevre; Lawrence Rudel; Frank Sacks; Linda Van Horn; Mary Winston; Judith Wylie-Rosett Journal: Circulation Date: 2006-06-19 Impact factor: 29.690
Authors: Jeffrey J Sacks; Katherine R Gonzales; Ellen E Bouchery; Laura E Tomedi; Robert D Brewer Journal: Am J Prev Med Date: 2015-10-01 Impact factor: 5.043
Authors: Barry J Maron; Bernard R Chaitman; Michael J Ackerman; Antonio Bayés de Luna; Domenico Corrado; Jane E Crosson; Barbara J Deal; David J Driscoll; N A Mark Estes; Claudio Gil S Araújo; David H Liang; Matthew J Mitten; Robert J Myerburg; Antonio Pelliccia; Paul D Thompson; Jeffrey A Towbin; Steven P Van Camp Journal: Circulation Date: 2004-06-08 Impact factor: 29.690
Authors: Piotr Ponikowski; Adriaan A Voors; Stefan D Anker; Héctor Bueno; John G F Cleland; Andrew J S Coats; Volkmar Falk; José Ramón González-Juanatey; Veli-Pekka Harjola; Ewa A Jankowska; Mariell Jessup; Cecilia Linde; Petros Nihoyannopoulos; John T Parissis; Burkert Pieske; Jillian P Riley; Giuseppe M C Rosano; Luis M Ruilope; Frank Ruschitzka; Frans H Rutten; Peter van der Meer Journal: Eur Heart J Date: 2016-05-20 Impact factor: 29.983
Authors: Angela M Wood; Stephen Kaptoge; Adam S Butterworth; Peter Willeit; Samantha Warnakula; Thomas Bolton; Ellie Paige; Dirk S Paul; Michael Sweeting; Stephen Burgess; Steven Bell; William Astle; David Stevens; Albert Koulman; Randi M Selmer; W M Monique Verschuren; Shinichi Sato; Inger Njølstad; Mark Woodward; Veikko Salomaa; Børge G Nordestgaard; Bu B Yeap; Astrid Fletcher; Olle Melander; Lewis H Kuller; Beverley Balkau; Michael Marmot; Wolfgang Koenig; Edoardo Casiglia; Cyrus Cooper; Volker Arndt; Oscar H Franco; Patrik Wennberg; John Gallacher; Agustín Gómez de la Cámara; Henry Völzke; Christina C Dahm; Caroline E Dale; Manuela M Bergmann; Carlos J Crespo; Yvonne T van der Schouw; Rudolf Kaaks; Leon A Simons; Pagona Lagiou; Josje D Schoufour; Jolanda M A Boer; Timothy J Key; Beatriz Rodriguez; Conchi Moreno-Iribas; Karina W Davidson; James O Taylor; Carlotta Sacerdote; Robert B Wallace; J Ramon Quiros; Rosario Tumino; Dan G Blazer; Allan Linneberg; Makoto Daimon; Salvatore Panico; Barbara Howard; Guri Skeie; Timo Strandberg; Elisabete Weiderpass; Paul J Nietert; Bruce M Psaty; Daan Kromhout; Elena Salamanca-Fernandez; Stefan Kiechl; Harlan M Krumholz; Sara Grioni; Domenico Palli; José M Huerta; Jackie Price; Johan Sundström; Larraitz Arriola; Hisatomi Arima; Ruth C Travis; Demosthenes B Panagiotakos; Anna Karakatsani; Antonia Trichopoulou; Tilman Kühn; Diederick E Grobbee; Elizabeth Barrett-Connor; Natasja van Schoor; Heiner Boeing; Kim Overvad; Jussi Kauhanen; Nick Wareham; Claudia Langenberg; Nita Forouhi; Maria Wennberg; Jean-Pierre Després; Mary Cushman; Jackie A Cooper; Carlos J Rodriguez; Masaru Sakurai; Jonathan E Shaw; Matthew Knuiman; Trudy Voortman; Christa Meisinger; Anne Tjønneland; Hermann Brenner; Luigi Palmieri; Jean Dallongeville; Eric J Brunner; Gerd Assmann; Maurizio Trevisan; Richard F Gillum; Ian Ford; Naveed Sattar; Mariana Lazo; Simon G Thompson; Pietro Ferrari; David A Leon; George Davey Smith; Richard Peto; Rod Jackson; Emily Banks; Emanuele Di Angelantonio; John Danesh Journal: Lancet Date: 2018-04-14 Impact factor: 202.731
Authors: Daniel S Herman; Lien Lam; Matthew R G Taylor; Libin Wang; Polakit Teekakirikul; Danos Christodoulou; Lauren Conner; Steven R DePalma; Barbara McDonough; Elizabeth Sparks; Debbie Lin Teodorescu; Allison L Cirino; Nicholas R Banner; Dudley J Pennell; Sharon Graw; Marco Merlo; Andrea Di Lenarda; Gianfranco Sinagra; J Martijn Bos; Michael J Ackerman; Richard N Mitchell; Charles E Murry; Neal K Lakdawala; Carolyn Y Ho; Paul J R Barton; Stuart A Cook; Luisa Mestroni; J G Seidman; Christine E Seidman Journal: N Engl J Med Date: 2012-02-16 Impact factor: 91.245
Authors: Carolyn Y Ho; Sharlene M Day; Euan A Ashley; Michelle Michels; Alexandre C Pereira; Daniel Jacoby; Allison L Cirino; Jonathan C Fox; Neal K Lakdawala; James S Ware; Colleen A Caleshu; Adam S Helms; Steven D Colan; Francesca Girolami; Franco Cecchi; Christine E Seidman; Gautam Sajeev; James Signorovitch; Eric M Green; Iacopo Olivotto Journal: Circulation Date: 2018-08-23 Impact factor: 29.690
Authors: Lobke L Pype; Philippe B Bertrand; Bernard P Paelinck; Hein Heidbuchel; Emeline M Van Craenenbroeck; Caroline M Van De Heyning Journal: Front Cardiovasc Med Date: 2022-04-12