Selected Publications from the DCM Research Project

 

Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study
Hofmeyer M, Haas GJ, Jordan E, Cao J, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Tang WHW, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Huggins GS, Kinnamon DD, Ni H, Hershberger RE. Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. Circulation 2023;148:872-881. PMID: 37641966

Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry
Jordan E, Kinnamon DD, Haas GJ, Hofmeyer M, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Tang WHW, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Fishbein DP, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Mead JO, Hurst NS, Huggins GS, Cowan J, Ni H, Rehm HL, Jarvik GP, Vatta M, Burke W, Hershberger RE. The genetic architecture of dilated cardiomyopathy in African and European ancestry: The DCM Precision Medicine Study. JAMA 2023; 2023; 330(5):432-441. PMC10394581

The DCM Project Portal: A direct-to-participant platform of The DCM Research Project
Jordan ES, Grover PL, Lin J, Starkey CA, Finley EA, Ni H, Hershberger RE. The DCM Project Portal: A direct-to-participant platform of The DCM Research Project. American Heart Journal Plus: Cardiology Research and Practice 38 (2024) 100356. PMID: 37425710

Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives
Ni H, Jordan E, Kinnamon DD, Cao J, Haas GJ, Hofmeyer M, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Tang WHW, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Fishbein DP, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Huggins GS, Hershberger RE. Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives. J Am Coll Cardiol 2023;81:2059-2071. PMID: 37225358

Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial
Kinnamon DD, Jordan E, Haas GJ, Hofmeyer M, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Tang WHW, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Aaronson KD, Fishbein DP, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Mead JO, Bowen DJ, Huggins GS, Ni H, Burke W, Hershberger RE, for the DCM Precision Medicine Study of the DCM Consortium. Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial. Circulation. 2023;147:1281-1290. PMID: 36938756; PMCID: PMC10133091

Knowledge of Genome Sequencing and Trust in Medical Researchers Among Patients of Different Racial and Ethnic Groups With Idiopathic Dilated Cardiomyopathy.
Ni H, Jordan E, Cao J, Kinnamon DD, Gottlieb SS, Hofmeyer M, Jimenez J, Judge DP, Kransdorf E, Morris AA, Owens A, Shah P, Tang WHW, Wang J, Hershberger RE. Knowledge of Genome Sequencing and Trust in Medical Researchers Among Patients of Different Racial and Ethnic Groups With Idiopathic Dilated Cardiomyopathy. JAMA Cardiol. 2023 Jan 1;8:33-42. PMID: 36383367

Validating an Idiopathic Dilated Cardiomyopathy Diagnosis Using Cardiovascular Magnetic Resonance: The DCM Precision Medicine Study
Haas GJ, Zareba KM, Ni H, Bello-Pardo E, Huggins GS, Hershberger RE. Validating an Idiopathic Dilated Cardiomyopathy Diagnosis Using Cardiovascular Magnetic Resonance: The DCM Precision Medicine Study. Circ Heart Fail 2022;15:e008877. DOI: 10.1161/CIRCHEARTFAILURE.121.008877

TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study
Trachtenberg BH, Jimenez J, Morris AA, Kransdorf E, Owens A, Fishbein DP, Jordan E, Kinnamon DD, Mead JO, Huggins GS, Hershberger RE; DCM Precision Medicine Study of the DCM Consortium. TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study. Genet Med. 2022 Jul;24(7):1495-1502. doi: 10.1016/j.gim.2022.03.011. Epub 2022 Apr 18. PMID: 35438637.   PMID: 35438637

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study
Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner M, Starkey C, Mead J, Ai T, Burke W, Gastier-Foster J, Jarvik GP, Rehm HL, Nickerson DA, Hershberger RE. Variant interpretation for dilated cardiomyopathy (DCM): refinement of the ACMG/ClinGen guidelines for the DCM Precision Medicine Study. Circ Genom Precis Med. 2020 2020 Apr;13(2):e002480. doi: 10.1161/CIRCGEN.119.002480. Epub 2020 Mar 11.  PMID: 32160020

Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study
Kinnamon DD, Morales A, Bowen DJ, Burke W, Hershberger RE; DCM Consortium*. Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study. Circ Cardiovasc Genet 2017; 10(6):e001826. PMID: 29237686

RECENT REVIEWS AND RELATED DCM PUBLICATIONS FROM THE DCM PROJECT

The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy
Hershberger RE, Cowan JR, Jordan E, Kinnamon DD. The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy. Circ Res 2021 14;128:1514-1532 PMID: 33983834

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy
Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, Celeghin R, Edwards M, Fan J, Ingles J, James CA, Jarinova O, Johnson R, Judge DP, Lahrouchi N, Lekanne Deprez RH, Lumbers RT, Mazzarotto F, Medeiros Domingo A, Miller RL, Morales A, Murray B, Peters S, Pilichou K, Protonotarios A, Semsarian C, Shah P, Syrris P, Thaxton C, van Tintelen JP, Walsh R, Wang J, Ware J, Hershberger RE. An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy. Circulation. 2021 May 5. doi: 10.1161/CIRCULATIONAHA.120.053033. PMID: 33947203. PMID: 33947203

Considering complexity in the genetic evaluation of dilated cardiomyopathy
Jordan E, Hershberger RE. Considering complexity in the genetic evaluation of dilated cardiomyopathy. Heart. 2021;107:106-112. doi: 10.1136/heartjnl-2020-316658. PMID: 33109712

Communal Coping as a Strategy to Enhance Family Engagement in Dilated Cardiomyopathy
Burke W, Hovick SR, Jordan E, Ni H, Kinnamon DD, Hershberger RE. Communal coping as a strategy to enhance family engagement in dilated cardiomyopathy. Circ Genom Precis Med 2022;15:e003541. doi: 10.1161/CIRCGEN.121.003541 . PMID: 35536229

LMNA-Related Dilated Cardiomyopathy
Hershberger RE, Jordan E. LMNA-Related Dilated Cardiomyopathy. 2008 Jun 12 [updated 2022 Mar 17]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews ® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID:20301717

Dilated Cardiomyopathy Overview
Hershberger RE, Jordan E. Dilated Cardiomyopathy Overview. 2007 Jul 27 [updated 2022 Apr 7]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301486

SOS1 Gain of Function Variants in Dilated Cardiomyopathy
Cowan JR, Salyer L, Wright NT, Kinnamon DD, Amaya P, Jordan E, University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson DA, Hershberger RE. SOS1 gain of function variants in dilated cardiomyopathy. Circ Genom Precis Med. 2020 Aug;13(4):e002892. PMID:32603605

Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees 
Cowan JR, Kinnamon DD, Morales A, Salyer L, Nickerson DA, Hershberger RE. Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy is Illustrated in Non-Segregating LMNA Pedigrees. Circ Genom Precis Med. 2018 Jul;11(7):e002038. PMID:30012837

GUIDELINE STATEMENTS FOR DCM

Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association
Musunuru K Chair, Hershberger RE, Co-Chair, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC. Genetic testing for inherited cardiovascular diseases: A scientific statement from the American Heart Association. Circ Genom Precis Med. 2020 Aug;13(4):e000067. doi: 10.1161/HCG.0000000000000067. Epub 2020 Jul 23. PMID: 32698598

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline
Hershberger RE, Givertz M, Ho CY, Judge DP, Kantor P, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic Evaluation of Cardiomyopathy – A Heart Failure Society of America Practice Guideline. J Card Fail. 2018 May: 24(5): 281-30. PMID:29567486

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Hershberger RE, Givertz M, Ho C, Judge D, Kantor P, McBride K, Morales A, Taylor M, Vatta M, Ware S. Genetic Evaluation of Cardiomyopathy – An American College of Medical Genetics and Genomics (ACMG) Practice Resource on behalf of the Professional Practice and Guideline Committee. Genet Med. 2018 Sep;20(9):899-909. PMID:29904160

LEGACY REVIEWS

Progress in DCM Genetics: The complexity of a diverse genetic architecture
Hershberger RE, Hedges DJ, Morales AM. Progress in DCM Genetics: The complexity of a diverse genetic architecture. Nature Reviews Cardiology 2013;10:531-47. PMID: 23900355

Return of genetic results in the familial dilated cardiomyopathy research project
Siegfried JD, Kushner JD, Burkett EL, Morales A, Cowan J, Mauro AC, Huggins GS, Li D, Norton N, Hershberger RE. Return of genetic results in the familial dilated cardiomyopathy research project. J Genetic Counseling 2013;22:164-74. PMID: 22886719

Where genome meets phenome: Rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure
Piran S, Liu P, Morales A, Hershberger RE. Where genome meets phenome: Rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure. J Am Coll Cardiol 2012;60:283-89. PMID: 22813604

Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy
Hershberger RE, and Siegfried JD.Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy. J of Am Coll Cardiol <2011; 57(16): 1641-1649.PMID:21492761

Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals
Hershberger RE, Morales A, Siegfried JD.  Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals. Genetics in Medicine 2010; 12(11): 655-667. PMID:20864896

Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic and arrhythmogenic right ventricular dysplasia/cardiomyopathy
Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail 2009;2:253-261.PMID:19808347

State of the Art: Clinical and genetic issues in familial dilated cardiomyopathy
Burkett EL, Hershberger RE. State of the Art: Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2005; 45:969-81. PMID:15808750

LEGACY GENE-SPECIFIC REPORTS

A Novel Human R25C-Phospholamban Mutation Is Associated with Superinhibition of Calcium Cycling, Dilated Cardiomyopathy and Ventricular Arrhythmia
Liu G, Morales A, Vafiadaki E, Lam CK, Cai W, Haghighi K, Hershberger RE, Kranias EG. A Novel Human R25C-Phospholamban Mutation Is Associated with Superinhibition of Calcium Cycling, Dilated Cardiomyopathy and Ventricular Arrhythmia. Cardiovasc Res 2015;107:164-74. PMID: 25852082

Identification and In Vitro Characterization of Novel Myosin Regulatory Light Chain Mutation Associated with Dilated Cardiomyopathy
Huang W, Liang J, Chen-Ching Yuan C, Kazmierczak K, Morales A, McBride KL, Fitzgerald-Butt SM, Hershberger RE, Szczesna-Cordary D. Identification and In Vitro Characterization of Novel Myosin Regulatory Light Chain Mutation Associated with Dilated Cardiomyopathy. FEBS J 2015; 282:2379-93. PMID: 25825243

Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy
Brodt C, Siegfried JD, Hofmeyer M, Martel J, Rampersaud E, Li D, Norton N, Hershberger RE. Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy. J Cardiac Failure 2013;19:233-239. PMID: 23582089

Exome sequencing and genome-wide linkage analysis in 17 families illustrates the complex contribution of TTN truncating variants to dilated cardiomyopathy
Norton N, Li D, Rampersand E, Morales A, Martin E, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE. Exome sequencing and genome-wide linkage analysis in 17 families illustrates the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circulation Cardiovasc Genetics 2013;6:144-53. PMID: 23418287

Evaluating Pathogenicity of Rare Variants from Dilated Cardiomyopathy in the Exome Era
Norton N, Robertson PD, Rieder MJ, Zuchner S, Rampersaud E. Evaluating Pathogenicity of Rare Variants from Dilated Cardiomyopathy in the Exome Era. Circ Cardiovasc Genet 2012; Apr 1;5(2):167-74. PMID:22337857

Copy Number Variation in 58 Probands probands with dilated cardiomyopathy
Norton N, Siegfried JD, Li D, Hershberger RE. Assessment of LMNA Copy Number Variation in 58 Probands probands with dilated cardiomyopathy. Clin Transl Sci 2011; Oct;4(5):351-2. PMID:22029807

Rare variant mutations identified in pediatric patients with dilated cardiomyopathy
Rampersaud E, Siegfried JD, Norton N, Li D, Martin E. Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. Progress in Pediatric Cardiology 2011; 31: 39–47. PMID:21483645

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy
Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Zuchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy. Am J of Human Genetics 2011; 88:273-282. PMID:21353195

Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy
Li D, Morales A, Gonzalez-Quintana J, Norton N, Siegfried JD, Hofmeyer M, Hershberger RE. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin Transl Sci 2010; Jun;3(3):90-97.PMID:20590677

Late Onset Sporadic Dilated Cardiomyopathy Caused by a Cardiac troponin T mutation
Morales A, Pinto JR, Siegfried JD, Li D, Norton N, Hofmeyer M, Vallin M, Morales AR, Potter JD, Hershberger RE. Late Onset Sporadic Dilated Cardiomyopathy Caused by a Cardiac troponin T mutation. Clin Translational Sci 2010; Oct;3(5):219-26. PMID:20973921

Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy
Morales A, Painter T, Li R, Siegfried JD, Li D, Norton N, Hershberger RE. Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. Circulation 2010; 121:2157-2159. PMID:20458009

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy
Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genetics 2010; 2:155-161. PMID: 20215591

Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy
Hershberger RE, Pinto J, Parks SB, Kushner JD, Li D, Ludwigsen S, Cowan J, Morales A, Parvatiyar MS, Potter JD. Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. Circ Genetics 2009; 2:253-261. PMID:20031601

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter C, Rahko P, Hershberger RE. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J 2008;156:161-9. PMID:18585512

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy
Hershberger RE, Parks SD, Kushner JD, Li D, Ludwigsen S, Jakobs PM, Nauman D, Burgess D, Partain J, Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci 2008; May;1(1):21-26(6).PMID:19412328

Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy
Kushner JD, Nauman D, Burgess D, Ludwigsen S, Dutton D, Parks S, Pantely G, Burkett EL, Hershberger RE. Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. J Cardiac Failure 2006;12:422-29. PMID:16911908

Mutations in presenilin genes in dilated cardiomyopathy and heart failure
Li D, Parks S, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin R, Jakobs PM, Litt M, Hershberger RE. Mutations in presenilin genes in dilated cardiomyopathy and heart failure. Am J Human Genetics 2006;79:1030-1039. PMID:17186461

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease and need for permanent pacemaker implantation
Hershberger RE, Hanson EL, Jakobs PM, Keegan , Coates K, Bousman S, Litt M.  A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease and need for permanent pacemaker implantation. Am Heart J  2002;144:1081-1086. PMID:12486434

Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy
Crispell KA, Hanson EL, Coates K, Warren T, Hershberger RE. Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. J Am Coll Cardiol 2002;39:1503-1507. PMID:11985914

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease
Jakobs PM, Hanson E, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle T, Litt M, Hershberger RE.  Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.  J Cardiac Failure 2001;7:249-256. PMID:11561226

Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice
Crispell KA, Wray A, Ni H, Nauman DJ, Hershberger RE. Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice.  J Am Coll Cardiol 1999;34:837-847. PMID:10483968