Hypertrophic Cardiomyopathy – Seidman Lab

Recent Publications (2011 -)

Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, Buchan RJ, Walsh R, John S, Wilkinson S, Mazzarotto F, Felkin LE, Gong S, MacArthur JAL, Cunningham F, Flannick J, Gabriel SB, Altshulter DM, Macdonald PS, Heinig M, Keogh AM, Hayward CS, Banner NR, Pennell DJ, O’Regan D, San RT, deMarvao A, Dawer TJW, Gulati A, Birks EJ, Yacoub MH, Radke M, Gotthardt M, Wilson JG, O’Donnell CJ, Prasad SK, Barton PJR, Fatkin D, Hubner N, Seidman JG, Seidman CE* Cook SA*. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Science Transl Med, 2014, In review.

Adalsteinsdottir B, Teekakirikul P, Maron BJ, Burke MA, Gudbjartsson DF, Holm H, Stefansson K, DePalma SR, Mazaika E, McDonough B, Danielsen R, Seidman JG, Seidman CE, Gunnarsson GTh. A Nationwide study on hypertrophic cardiomyopathy in Iceland: Evidence of a MYBPC3 Founder Mutation. Circulation 2014. doi: 10.1161/CIRCULATIONAHA.114.011207. PubMed PMID: 25078086. | PDF Download

Fatkin D, Seidman CE, Seidman JG. Genetics and Disease of Ventricular Muscle. Cold Spring Harbor Perspectives in Medicine. 2014;4:a021063. | PDF Download

Blankenburg R, Hackert K, Wurster S, Deenen R, Seidman JG, Seidman C, Lohse MJ, Schmitt JP. β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations. Circ Res. 2014 May 14. pii: CIRCRESAHA.113.303178. [Epub ahead of print]. PMCID: PMC4086907. | PDF Download

Shimada YJ, Passeri JJ, Baggish AL, O’Callaghan C, Lowry PA, Yannekis G, Abbara S, Ghoshhajra BB, Rothman RD, Ho CY, Januzzi JL, Seidman CE, Fifer MA. Effects of losartan on left ventricular hypertrophy and fibrosis in patients with nonobstructive hypertrophic cardiomyopathy. JACC Heart Fail. 2013 Dec;1(6):480-7. PMCID: PMC3950308. Available on 2014/12/1. | PDF Download

Christodoulou DC, Wakimoto H, Onoue K, Eminaga S, Gorham JM, DePalma SR, Herman DS, Teekakirikul P, Conner DA, McKean DM, Domenighetti AA, Aboukhalil A, Chang S, Srivastava G, McDonough B, De Jager PL, Chen J, Bulyk ML, Muehlschlegel JD, Seidman CE, Seidman JG. 5’RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy. J Clin Invest. 2014;124(3):1364-70. | PDF Download

Dai J, Matsui T, Abel ED, Dedhar S, Gerszten RE, Seidman CE, Seidman JG, Rosenzweig A. Deep Sequence Analysis of Gene Expression Identifies Osteopontin as a Downstream Effector of Integrin-Linked Kinase (ILK) in Cardiac-Specific ILK Knockout Mice. Circ Heart Fail. 2014 Jan 1;7(1):184-93. PMCID: PMC3950354. Available on 2015/1/1.

Domenighetti AA, Chu PH, Wu T, Sheikh F, Gokhin DS, Guo LT, Cui Z, Peter AK, Christodoulou DC, Parfenov MG, Gorham JM, Li DY, Banerjee I, Lai X, Witzmann FA, Seidman CE, Seidman JG, Gomes AV, Shelton GD, Lieber RL, Chen J. Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice. Hum Mol Genet. 2014;23(1):209-25. | PDF download

Jiang J, Wakimoto H, Seidman JG, Seidman CE. Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. Science. 2013;342(6154):111-4. | PDF Download

Palmer BM, Schmitt JP, Seidman CE, Seidman JG, Wang Y, Bell SP, Lewinter MM, Maughan DW. Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy. J Mol Cell Cardiol. 2013;57C:23-31. PMCID: PMC3594396. | PDF Download

Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, Herman DS, DePalma SR, Gupta N, Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J, Taylor HA Jr, Fox ER, Newton-Cheh C, Kathiresan S, O’Donnell CJ, Wilson JG, Altshuler DM, Hirschhorn JN, Seidman JG, Seidman C. Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Am J Hum Genet. 2012;91(3):513-9. | PDF Download

Teekakirikul P, Padera RF, Seidman JG, Seidman CE. Hypertrophic cardiomyopathy: translating cellular cross talk into therapeutics. J Cell Biol. 2012;199(3):417-21. | PDF Download

Lakdawala NK, Thune JJ, Colan SD, Cirino AL, Farrohi F, Rivero J, McDonough B, Sparks E, Orav EJ, Seidman JG, Seidman CE, Ho CY. Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy. Circ Cardiovasc Genet. 2012;5(5):503-10. PMCID: PMC3646896. | PDF Download

Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, Johnson N, Mendelsohn NJ, Morel C, Care M, Chung WK, Jones C, Psychogios A, Duffy E, Rehm HL, White E, Seidman JG, Seidman CE, Ho CY. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012 Apr;18(4):296-303. PMCID: PMC3666099.

Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, Teodorescu DL, Cirino AL, Banner NR, Pennell DJ, Graw S, Merlo M, Di Lenarda A, Sinagra G, Bos JM, Ackerman MJ, Mitchell RN, Murry CE, Lakdawala NK, Ho CY, Barton PJ, Cook SA, Mestroni L, Seidman JG, Seidman CE. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619-28. | PDF Download

Sparks EA, Boudoulas KD, Raman SV, Sasaki T, Graber HL, Nelson SD, Seidman CE, Boudoulas H. Heritable Cardiac Conduction and Myocardial Disease: From the Clinic to the Basic Science Laboratory and Back to the Clinic. Cardiology. 2011;118:179-186. | PDF Download

Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124(24):e783-831. | PDF Download

Seidman CE, Seidman JG. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res. 2011;108(6):743-50. | PDF Download

Prior Selected Publications (- 2010)

Konno T, Chen D, Wang L, Wakimoto H, Teekakirikul P, Nayor M, Kawana M, Eminaga S, Gorham JM, Pandya K, Smithies O, Naya FJ, Olson EN, Seidman JG, Seidman CE. Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy. P Natl Acad Sci USA. 2010 Oct 19;107(42):18097-102. Epub 2010 Oct 5. PMCID: PMC2964244.

Force T, Bonow RO, Houser SR, Solaro RJ, Hershberger RE, Adhikari B, Anderson ME, Boineau R, Byrne BJ, Cappola TP, Kalluri R, LeWinter MM, Maron MS, Molkentin JD, Ommen SR, Regnier M, Tang WH, Tian R, Konstam MA, Maron BJ, Seidman CE. Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute. Circulation. 2010 Sep 14;122(11):1130-3. PMCID: PMC3070356.

Teekakirikul P, Eminaga S, Toka O, Alcalai R, Wang L, Wakimoto H, Nayor M, Konno T, Gorham JM, Wolf CM, Kim JB, Schmitt JP, Molkentin JD, Norris RA, Tager AM, Hoffman SR, Markwald RR, Seidman CE, Seidman JG. Cardiac fibrosis in hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgfβ. J Clin Invest. 2010 Oct;120(10):3520-9. PMCID: PMC2947222.

Ho CY, Lopez B, Coelho-Filho OR, Lakdawala NK, Cirion Al, Jarolim P, Kwong R, Gonzalez A, Colan SD, Seidman JG, Diez J, Seidman CE. Myocardial Fibrosis as an Early Consequence of Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy. N Engl J Med, 2010;363(6):552-563. PMCID: PMC3049917.

Saltzman AJ, Mancini-Dinardo D, Li C, Chung WK, Ho CY, Hurst S, Wynn J, Care M, Hamilton RM, Seidman GW, Gorham J, McDonough B, Sparks E, Seidman JG, Seidman CE, Rehm HL. The Cardiac Myosin Binding Protein Arg502Trp Mutation: A Common Cause of Hypertrophic Cardiomyopathy. Circ Res 2010;14;106(9):1549-52. PMCID: PMC2893345.

Konno T, Chang S, Seidman JG, Seidman CE. Genetics of Hypertrophic Cardiomyopathy. Current Opinion in Cardiology. 2010;25(3):205-9. PMCID: PMC2932754.

Wang L. Seidman JG, Seidman CE. Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med. 2010;152(8):513-520. PMCID: PMC3017752.

Morita H, Nagai R, Seidman JG, Seidman CE. Sarcomere Gene Mutations in Hypertrophy and Heart Failure. J Cardiovasc Transl Res. 2010;3(4):297-303 (Review). PMCID: PMC3049265.

Wang LB, Seidman JG, Seidman CE. Using molecular genetics to guide the diagnosis and treatment of hypertrophic cardiomyopathy. Zhonghua Xin Xue Guan Bing Za Zhi. 2009 Dec;37(12):1063-8. Chinese.

Zimmerman RS, Cox S, Lakdawala NK, Cirino A, Mancini-DiNardo D, Clark E, Leon A, Duffy E, White E, Baxter S, Alaamery M, Farwell L, Weiss S, Seidman CE, Seidman JG, Ho CY, Rehm HL, Funke BH. A Novel Custom Resequencing Array for Dilated Cardiomyopathy. Genet Med. 2010;12(5):268-278. PMCID: PMC3018746.

Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, Watkins H, Seidman CE, Seidman JG, McNally EM, Ho CY. Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol. 2010;55(4):320-9. PMCID:PMC3000630.

Mobine HR, Baker AB, Wang L. Wakimoto H, Jacobsen KC, Seidman CE, Seidman JG, Edelman ER. Pheochromocytoma induced cardiomyopathy is modulated by the synergistic effects of cell-secreted factors. Circ Heart Fail. 2009;2(2):121-128. PMCID: PMC2769512.

Nyland LR, Palmer BM, Chen Z, Maughan DW, Seidman CE, Seidman JG, Kreplak L, Vigoreaux JO. Cardiac Myosin binding protein-C is essential for thick-filament stability and flexural rigidity. Biophys J. 2009; 96(8):3273-80. PMCID: PMC2718271.

Maron BJ, Roberts WC, Arad M, Haas TS, Spirito P, Wright GB, Almquist AK, Baffa JM, Saul JP, Ho CY, Seidman JG, Seidman CE. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009;301(12):1253-9. PMCID: PMC4106257.

Herman DS, Hovingh GK, Iartchouk O, Rehm HL, Kucherlapati R, Seidman JG, Seidman CE. Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods. 2009;6(7): 507-510. PMCID: PMC2773433.

Schmitt JP, Ahmad F, Lorenz K, Hein L, Schulz S, Asahi M, MacLennan DH, Seidman CE, Seidman JG, Lohse J. Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca 2+-ATPase inhibition. Circulation. 2009;119(3):436-44. PMID:19139388; Free full text.

Maron BJ, Seidman CE, Ackerman MJ, Towbin JA, Maron MS, Ommen SR, Nishimura RA, Gersh BJ. How should hypertrophic cardiomyopathy be classified?: What’s in a name? Dilemmas in nomenclature characterizing hypertrophic cardiomyopathy and left ventricular hypertrophy. Circ Cardiovasc Genet. 2009 Feb;2(1):81-5. Free Full Text.

Hershberger RE, Lindenfield J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic Evaluation of Cardiomyopathy: A Heart Failure Society of America Comprehensive Heart Failure Practice Guideline. J Card Fail. 2009;15(2):83-97.

Ahmad, F, Banerjee SK, Lage ML, Huang XN, Smith SH, Saba S, Rager J, Conner DA, Janczewski AM, Tobita K, Tinney JP, Moskowitz IP, Perez-Atayde AR, Keller BB, Mathier MA, Shroff SG, Seidman CE, Seidman JG. The role of Cardiac Troponin T quantity and function in cardiac development and dilated cardiomyopathy. PLoS ONE 2008;3(7):e2642. PMCID: PMC2441440.

Tsoutsman T, Kelly M, Ng DCH, Tan J-E, Tu E, Lam L, Bogoyevitch MA, Seidman CE, Seidman JG, Semsarian C. Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy. Circulation. 2008 Apr 8;117(14):1820-31. PMID: 18362229. Free full text.

Morita H, Rehm HL, Menesses AD, McDonough B, Roberts AE, Towbin JA, Seidman CE*, Seidman JG.* Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 1;358(18):1899-908. PMCID: PMC2752150.

Palmer BM, Wang Y, Teekakirikul P, Hinson JT, Fatkin D, Strouse S, Vanburen P, Seidman CE, Seidman JG, Maughan DW. Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of gender. Am J Physiol Heart Circ Physiol. 2008 Apr;294(4):H1939-47. PMID: 18281382. Free full text.

Gramolini AO, Kislinger T, Alikhani-Koopaei R, Fong V, Thompson NJ, Isserlin R, Sharma P, Oudit GY, Trivieri MG, Fagan A, Kannan A, Higgins D, Huedig H, Hess G, Arab S, Seidman JG, Seidman CE, Frey B, Perry M, Backx PH, Liu PP, Maclennan DH, Emili A. Comparative proteomic profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. Mol Cell Proteomics. 2008 Mar;7(3):519-33.

Wolf CM, Wang L, Alcalai R, Pizard A, Burgon PG, Ahmad F, Sherwood M, Branco DM, Wakimoto H, Fishman GI, See V, Stewart CL, Conner DA, Berul CI, Seidman CE, Seidman JG. Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. J Mol Cell Cardiol. 2008;44(2):293-303.

Alcalai R, Seidman JG, Seidman CE. Genetic Basis of Hypertrophic Cardiomyopathy: From Bench to the Clinics. J Cardiovasc Electrophysiol. 2008 Jan;19(1):104-10.

Kim JB, Porreca GJ, Greenway, SC, Gorham JM, Church GM, Seidman CE, Seidman JG. Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy. Science. 2007;316:1481-1484.

Luptak I, Shen M, He H, Hirshman MF, Musi N, Goodyear LJ, Yan J, Wakimoto H, Morita H, Arad M, Seidman CE, Seidman JG, Ingwall JS, Balschi JA, Tian R. Aberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage. J Clin Invest. 2007 May 1;117(5):1432-1439.

Debold EP, Schmitt JP, Moore JR, Patlak JB, Beck SE, Seidman JG, Seidman CE, Warshaw DM. Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay. Am J Physiol Heart Circ Physiol. 2007 Jul;293(1):H284-91.

Arad M, Seidman JG, Seidman CE. Cardiac AMP-activated protein kinase in health and disease. Circulation Research. 2007 Mar 2;100(4):474-88.

Sadayappan S, Osinska H, Klevitsky R, Lorenz JN, Sargent M, Molkentin JD, Seidman CE, Seidman JG, Robbins J. Cardiac myosin binding protein C phosphorylation is cardioprotective. Proc Natl Acad Sci U S A. 2006 Nov 7;103(45):16918-23.

Schmitt JP, Debold EP, Ahmad F, Armstrong A, Frederico A, Conner DA, Mende U, Lohse MJ, Warshaw D, Seidman CE, Seidman JG. Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. Proc Natl Acad Sci U S A. 2006;103(39):14525-30.

Morita H, Larson MG, Barr SC, Vasan RS, O’Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation. 2006;113(23):2697-705.

Song L, DePalma SR, Kharlap M, Zenovich AG, Cirino A, Mitchell R, McDonough B, Maron BJ, Seidman CE, Seidman JG, Ho CY. Novel locus for an inherited cardiomyopathy maps to chromosome 7. Circulation 2006;113(18):2186-92.

Ho CY, Seidman CE. A contemporary approach to hypertrophic cardiomyopathy. (Review) Circulation. 2006;113(24):e858-62.

Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB; American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113(14):1807-16.

Sabatine MS, Seidman JG, Seidman CE. Cardiovascular Genomics. Circulation. 2006;113(11):e450-5.

Zou L, Shen M, Arad M, He H, Lofgren B, Ingwall JS, Seidman CE, Seidman JG, Tian R. N488I mutation of the gamma 2-subunit results in bidirectional changes in AMP-activated protein kinase activity. Circ Res. 2005;97(4):323-8.

Ingles J, Doolan A, Chiu C, Seidman JG, Seidman CE, Semsarian C. Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetics testing and counseling. J Med Genet. 2005;42:59-65.

Sadayappan S, Gulick J, Osinska H, Martin LA, Hahn HS, Dorn GW, Klevitsky R, Seidman CE, Seidman JG, Robbins J. Cardiac Myosin binding protein-C Phosphorylation and Cardiac Function. Circ Res. 2005;97(11):1156-63.

Ahmad F, Arad M, Musi N, He H, Wolf C, Branco D, Perez-Atayde AR, Stapleton D, Bali D, Zing Yian r, Goodyear LJ, Berul CI, Ingwall JS, Seidman CE, Seidman JG. Increased α2 subunit associated AMPK activity and PRKAG2 cardiomyopathy. Circulation. 2005;112(20):3140-8.

Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE. Gene Mutations in Apical Hypertrophic Cardiomyopathy. Circulation. 2005;112:2805-2811.

Schönberger J, Wang L, Shin JT, Depreux FFS, Zhu H, Zon L, Kim JB, MacRae CA, Mungall AJ, Seidman JG, Seidman, CE. Mutation in the transcriptional co-activator Eya4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet. 2005;37(4):418-22.

Maron BJ, Seidman JG, Seidman CE. Proposal for Contemporary Screening Strategies in Families with Hypertrophic Cardiomyopathy. JACC. 2004;44(11):2125-2132.

Roberts AE, Hult B, Rehm HL, McDonough B, Barr S, Seidman CE, Seidman JG, Kucherlapati RS. The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy. Am J Med Genet. 2005;132(3):333-4.

Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright, GB, Kanter RJ, Seidman CE and Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. New Eng J Med. 2005;352:362-72.

Morita H, Seidman JG, Seidman CE. Genetic Causes of Human Heart Failure (Review). J Clin Invest. 2005;15(3):518-26.

Ahmad F, Seidman JG, Seidman CE. The Genetic Basis for Cardiac Remodeling. Annual Reviews Genomics and Human Genetics. 2005 Sep 22;6:185-216.

Palmer BM, Georgakopoulos D, Janssen PM, Wang Y, Alpert NR, Belardi DF, Harris SP, Moss RL, Burgon PG, Seidman CE, Seidman JG, Maughan DW, Kass DA. Role of cardiac myosin binding protein C in sustaining left ventricular systolic stiffening. Circ Res. 2004;94(9):1249-55.

Palmer BM, Noguchi T, Wang Y, Heim FU, Alpert NR, Burgon PG, Seidman CE, Seidman JG, Maughan DW, LeWinter MM. Effect of cardiac myosin binding protein-C on mechanoenergetics in mouse myocardium. Circ Res. 2004;94:1615-1622.

Palmer BM, McConnell BK, Li GH, Seidman CE, Seidman JG, Irving TC, Alpert NR, Maughan DW. Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C. Mol Cell Biochem. 2004;263(1-2):73-80.

Palmer BM, Fishbaugher DE, Schmitt JP, Wang Y, Alpert NR, Seidman CE, Seidman JG, VanBuren P, Maughan DW. Differential crossbridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium. Amer J Physiol. (Heart Circ Physiol) 2004;287:H91-9.

Grabie N, Delfs MW, Westrich JR, Love VA, Stavrakis G, Ahmad F, Seidman CE, Seidman JG, Lichtman AH. IL-12 is required for differentiation of pathogenic CD8+ T cell effectors that cause myocarditis. J Clin Invest. 2003;111(5):671-80.

Song Q, Schmidt AG, Hahn HS, Carr AN, Frank B, Pater L, Gerst M, Young K, Hoit BD, McConnell BK, Haghighi K, Seidman CE, Seidman JG, Dorn GW 2nd, Kranias EG. Rescue of cardiomyocyte dysfunction by phospholamban ablation does not prevent ventricular failure in genetic hypertrophy. J Clin Invest. 2003;111(6):859-67.

Schmitt JP, Semsarian C, Arad M, Gannon J, Ahmad F, Duffy C, Lee RT, Seidman CE, Seidman JG. The consequences of pressure overload on sarcomere protein mutation induced hypertrophic cardiomyopathy. Circulation. 2003;108:1133-1138.

Arad M, Moskowitz IP, Patel VV, Ahmad F, Perez-Atayde AR, Sawyer DB, Walter M, Li G-H, Burgon PG, Maguire CT, Stapleton D, Schmitt JP, Guo XX, Pizard A, Kuperschmidt S, Roden DM, Berul CI, Seidman CE, Seidman JG. Transgenic mice over-expressing mutant PRKAG2 define the cause of Wolff-Parkinson-White Syndrome in glycogen storage cardiomyopathy. Circulation. 2003;107:2850-2856.

Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U, Kranias EG, MacLennan DH, Seidman JG, Seidman CE. Dilated cardiomyopathy and heart failure caused by a mutation in Phospholamban. Science. 2003;299:1410-1413.

Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH 3rd, Spirito P, Ten Cate FJ, Wigle ED; American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents; European Society of Cardiology Committee for Practice Guidelines. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. Eur Heart J. 2003 Nov;24(21):1965-91.

Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH 3rd, Spirito P, Ten Cate FJ, Wigle ED; Task Force on Clinical Expert Consensus Documents. American College of Cardiology; Committee for Practice Guidelines. European Society of Cardiology. J Am Coll Cardiol. 2003;42(9):1687-713.

Arad M, Seidman JG, Seidman CE. Phenotypic diversity in hypertrophic cardiomyopathy. Hum Molec Genet. 2002:11(20):2499-2506.

Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE. Solomon SD. Assessment of diastolic function with Doppler tissue imaging to predict genotype in pre-clinical hypertrophic cardiomyopathy. Circulation. 2002;105(25):2992-7.

Hardt SE, Geng YJ, Montagne O, Asai K, Hong C, Yang GP, Bishop SP, Kim SJ, Vatner DE, Seidman CE, Seidman JG, Homcy CJ, Vatner SF. Accelerated cardiomyopathy in mice with over-expression of cardiac Gsa and a missense mutation in the α-Myosin Heavy Chain. Circulation. 2002;105(5):614-620.

Arad M, Benson W, McKenna WH, Perez-Atayde AR, Sparks EA, Kanter RJ, Seidman JG, Seidman CE. Constitutively active AMP kinase mutations cause ventricular pre-excitation, atrioventricular block and glyocgen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002;109(3):357-362.

Niimura H, Patton KK, McKenna WH, Soults J, Maron B, Seidman JG, Seidman CE. Sarcomere protein mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105(4)446-451.

Semsarian C, Ahmad I, Giewat M, Georgakopoulos D, Schmitt J, McConnell B, Kass DA, Seidman C, Seidman JG. The L-type calcium-channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest. 2002;109(8):1013-1020.

Gerull B, Gramlich M, Atherton J, McNabb M, Sasse-Klaassen S, Seidman JG, Seidman CE, Granzier H, Labeit S, Frenneauz M, Thierfelder L. Mutations of TTN, encoding the giant muscle filament titin, causes familial dilated cardiomyopathy. Nat Genet. 2002;30:201-204.

Braunwald E, Seidman CE, Sigwart U. Contemporary evaluation and management of hypertrophic cardiomyopathy. Circulation. 2002;106(11):1312-6.

Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman, JG, Seidman CE. Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. JACC. 2001;38(2):315-21.

Semsarian C, Healey MJ, Fatkin D, Giewat M, Duffy C, Seidman C, Seidman JG. Genetic modifiers and phenotypic heterogeneity in mice with familial hypertrophic cardiomyopathy. J Molec Cell Cardiol. 2001;33(11):2055-2060.

McConnell BK, Fatkin D, Semsarian C, Jones KA, Georgakopoulos D, Maguire CT, Healey MJ, Mudd JO, Moskowitz IPG, Conner DA, Giewat M, Wakimoto H, Berul CI, Schoen FJ, Kass DA, Seidman CE, Seidman JG. Comparison of two murine models of familial hypertrophic cardiomyopathy. Circ Research. 2001; 88:383-389.

Bruneau BG, Bao ZZ, Fatkin D, Xavier-Neto J, Georgakopoulos D, Maguire CT, Berul CI, Kass DA, Kuroski-de Bold ML, de Bold AJ, Conner DA, Rosenthal N, Cepko CL, Seidman CE, Seidman JG. Cardiomyopathy in Irx4-deficient mice is preceded by abnormal ventricular gene expression.. Molec Cell Biol. 2001;21(5):1730-1736.

Schonberger J, Seidman CE. Many Roads Lead to a Broken Heart: The Genetics of Dilated Cardiomyopathy. (Review) Am J Hum Genet. 2001; 69:249-260.

Semsarian C, Seidman CE. Molecular Medicine in the 21st Century. (Review) Internal Medicine Journal. 2001;31:53-59.

Fatkin D, McConnell BK, Mudd JO, Semsarian C, Moskowitz I, Schoen FJ, Giewat M, Seidman CE, Seidman JG. An abnormal Ca2+ response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin Invest. 2000;106:1351-1359.

Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Jarcho J, Smoot L, Mullen MP, Shapiro LR, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Sarcomere protein gene mutations cause dilated cardiomyopathy. N Eng J Med. 2000;343:1688-1695.

Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE. Homozygous mutation in cardiac troponin T: Implications for hypertrophic cardiomyopathy. Circulation. 2000;102:1950-1955.

Tyska MJ, Hayes E, Giewat M, Seidman CE, Seidman JG, Warshaw DM. Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy. Circ Research. 2000;86(7):737-744.

Schonberger J, Levy H, Grunig E, Sangwatanaroj S, Fatkin D, MacRae C, Stacker H, Halpin C, Eavey R, Philbin EF, Katus H, Seidman JG, Seidman CE. Dilated cardiomyopathy and sensorineural hearing loss: A heritable syndrome that maps to 6q23-24. Circulation. 2000;101(15):1812-1818.

Seidman CE. The genetic basis of hypertrophic cardiomyopathy. (Review) Cardiology Rounds. 2000;4:1-6.

Seidman CE. Hypertophic cardiomyopathy: From man to mouse. (Review) J Clin Invest. 2000; S9-13.

Milewicz DA, Seidman CE. Genetics of Cardiovascular Disease. (Review) Circulation. 2000;102:IV-103-IV-111.

Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999;104:1567-1573.

McConnell BK, Jones KA, Fatkin D, Arroyo LH, Lee RT, Aristizabal O, Turnbull DH, Georgakopoulos D, Kass D, Bond M, Niimura H, Schoen FJ, Conner DA, Fischman DH, Seidman CE, Seidman JG. Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice. J Clin Invest. 1999;104(9):1235-1244.

Mukherjea P, Tong L, Seidman JG, Seidman CE, Hitchcock-DeGregori SE. Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. Biochem. 1999;38(40):13296-13301.

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, DeGirolami U, Muntoni F, Johnson W, McDonough B, Seidman JG, Seidman CE. Missense mutations in the lamin A/C rod cause dilated cardiomyopathy and conduction system disease. New Eng J Med. 1999; 341(23):1715-1724.

Georgakopoulos D, Christe ME, Giewat M, Seidman CE, Seidman JG, Kass DA. The pathogenesis of familial hypertrophic cardiomyopathy: Early versus evolving effects from an -cardiac myosin heavy chain missense mutation. Nat Med. 1999;5(3):327-330.

Kim S-J, Iizuka K, Kelly RA, Geng Y-J, Bishop SP, Yang G, Kudej A, McConnell B, Seidman CE, Seidman JG, Vatner SF. An -cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes. Am J Physiol. 1999;276(45)H1780-1787.

Siu BL, Niimura H, Osborne JA, Fatkin D, MacRae C, Solomon S, Benson DW, Seidman JG, Seidman CE. A familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation. 1999; 99:1022-1026.

Gruver EJ, Fatkin D, Dodds GA, Kisslo J, Maron BJ, Seidman JG, Seidman CE. Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His β-cardiac myosin heavy chain mutation. Am Jour Card. 1999;83(12A):13H-18H.

Blanchard E, Seidman CE, Seidman JG, LeWinter M, Maughan D. Altered crossbridge kinetics in the MHC 403/+ mouse model of familial hypertrophic cardiomyopathy. Circ Res. 1999;84(4):475-483.

Fatkin D, Christe ME, Aristizabal O, McConnell BK, Srinivasan S, Schoen FJ, Seidman CE, Turnball DH, Seidman JG. Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the α-cardiac myosin heavy chain gene. J Clin Invest. 1999;103(1):147-153.

Spindler M, Saupe KW, Christe ME, Sweeney HL, Seidman CE, Seidman JG, Ingwall JS. Diastolic dysfunction and altered energetics in the MHC 403/+ mouse model of familial hypertrophic cardiomyopathy. J Clin Invest. 1998;101(8):1775-1783.

Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Thierfelder L, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Eng J Med. 1998;338(18):1248-1257.

Maron BJ, Moller JH, Seidman CE, Vincent GM, Dietz HC, Moss AJ, Sondheimer HM, Pyeritz RE, McGee G, Epstein AE. Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: Hypertrophic cardiomyopathy, long-QT syndrome and marfan syndrome. A statement for healthcare professionals from the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association. Circulation. 1998;98(14):1460-1471.

Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy (Review). N Eng J of Med. 1997;336(11):775-785.

Blanchard EM, Iizuka K, Christe M, Conner DA, Geisterfer-Lowrance A, Schoen FJ, Maughan DW, Seidman CE, Seidman JG. Targeted Ablation of the Murine α-Tropomyosin gene. Circ Res. 1997;81(6):1005-1010.

Golitsina N, An Y, Greenfield NJ, Thierfelder L, Iizuka K, Seidman JG, Seidman CE, Lehrer SS, Hitchcock-DeGregori SE. Effects of two familial hypertrophic cardiomyopathy-causing mutations on -tropomyosin structure and function. Biochemistry. 1997;36(15)4637-4642.

Berul CI, Christe ME, Aronovitz, MJ, Seidman CE, Seidman JG, Mendelsohn ME. Electrophysiological abnormalities and arrhythmias in MHC mutant familial hypertrophic cardiomyopathy mice. J Clin Invest. 1997;99(4):570-576.

Watkins H, Seidman CE, Seidman JG, Feng HS, Sweeney HL. Expression and functional assessment of a truncated cardiac troponin T that cause hypertrophic cardiomyopathy: Evidence for a dominant negative action. J Clin Invest. 1996;(11):2456-61. PMCID: PMC507702.

Coviello DA, Maron BJ, Spirito P, Watkins H, Vosberg H-P, Thierfelder L, Schoen FJ, Seidman JG, Seidman CE. Clinical features of hypertrophic cardiomyopathy caused by mutation of a “hot spot” in the α-tropomyosin gene. J Amer Coll Cardiol. 1997;29(3):635-640.

Geisterfer-Lowrance AAT, Christe M, Conner DA, Ingwall JS, Schoen RJ, Seidman CE, Seidman JG. A mouse model of familial hypertrophic cardiomyopathy. Science. 1996;272(5262):731-734.

Watkins H, Seidman JG, Seidman CE. Familial hypertrophic cardiomyopathy: A genetic model of cardiac hypertrophy. Hum Molec Genet. 1995;4:1721-1727.

Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:434-437.

Watkins H, Anan R, Coviello DA, Spirito P, Seidman JG, Seidman CE. A de novo mutation in α-tropomyosin that causes hypertrophic cardiomyopathy. Circulation. 1995;91:2302-2305.

Watkins H, McKenna W, Thierfelder L, Suk J, Anan R, O’Donoghue A, Spirito P, Matsumori A, Moravec C, Seidman JG, Seidman CE. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Eng J Med. 1995;332:1058-1064.

Greve G, Bachinski L, Friedman DL, Czernuzewicz G, Anan R, Towbin J, Seidman CE, Roberts R. Isolation of a de novo mutant myocardial ß MHC protein in a pedigree with hypertrophic cardiomyopathy. Human Mol Genet. 1994;3(11):2073-2075.

Watkins H, MacRae CA, Seidman JG, Seidman CE, A trinucleotide repeat polymorphism in the human myosin binding protein gene (MyBP-H) on chromosome 1q. Human Mol Genet. 1994;3(12):2267.

MacRae CA, Ghaisas N, Kass S, Donnelly S, Basson CT, Watkins H, Anan R, Thierfelder LH, McGarry K, Rowland E, McKenna W, Seidman, JG, Seidman CE. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White Syndrome maps to a locus on chromosome 7q3. J Clin Invest. 1995;96:1216-1220.

Kass S, MacRae C, Graber HL, Sparks EA, McNamara D, Boudoulas H, Basson CT, Baker PB, Cody RG, Fishman MC, Cox N, Kong A, Wooley CF, Seidman JG, Seidman CE. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1cen. Nat Genet. 1994;7:546-551.

Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg H-P, Seidman JG, Seidman CE. -Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere. Cell. 1994;77:1-20.

Straceski AJ, Geisterfer-Lowrance A, Seidman CE, Seidman JG, Leinwand, LA. Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci, USA. 1994;91(2):589-93.

Watkins HC, MacRae CA, Thierfelder L, McKenna WJ, Seidman CE, Seidman JG. A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q. Human Mol Genet. 1993;2(7):1084.

MacRae CA, Watkins HC, Thierfelder L, McKenna WJ, Seidman JG, Seidman CE. An evaluation of RNase protection assays for the detection of cardiac myosin heavy chain gene mutations. Circulation. 1994;89:33-35.

Anan R, Greve G, Thierfelder L, Watkins H, McKenna WJ, Solomon S, Vecchio C, Shono H, Nakao S, Tanaka H, Mares A, Towbin JA, Spirito P, Roberts R, Seidman JG, Seidman CE. Prognostic implications of novel  myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest. 1994;93:280-285.

Watkins H, Thierfelder L, Anan R, McKenna W, Seidman JG, Seidman CE. Independent origin of identicalβ myosin heavy chain gene mutations in hypertrophic cardiomyopathy. Amer J Hum Genet. 1993;53:1180-1185. PMCID: PMC1682496.

Solomon SD, Wolff S, Watkins H, Ridker PM, Come P, Seidman CE, McKenna WJ, Lee RT. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations in the β myosin heavy chain gene. J Am Coll Cardiol. 1993;22:498-505.

Thierfelder L, MacRae C, Watkins H, Tomfohrde J, Williams M, McKenna W, Bohm K, Noeske G, Schlepper M, Bowcock A, Vosberg H-P, Seidman JG, Seidman CE. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci, USA. 1993;90:6270-6274.

Tanigawa G, Watkins H, Jarcho JA, Morton CC, Seidman JG, Seidman CE. Absence of major deletions or rearrangements of cardiac myosin heavy chain genes in familial hypertrophic cardiomyopathy. Circulation. 1993;87(suppl):VII-11-VII-13.

Watkins H, MacRae C, Thierfelder L, Chou T-H. Fremmeaiz M, McKenna W, Seidman JG, Seidman CE. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet. 1993;3:333-337.

Watkins H, Thierfelder L, Hwang D-S, McKenna W, Seidman JG, Seidman CE. Sproradic hypertrophic cardiomyopathy due to de novo myosin mutations. J Clin Invest. 1992;90:1666-71.

Watkins H, Rosenzweig A, Hwang D S, Levi T, McKenna W, Seidman CE, Seidman, JG. Characteristics and prognostic implications of myosin missense mutations in familial hypertropic cardiomyopathy. N Eng J Med. 1992;326:1108-1114.

Watkins H, Seidman CE, MacRae C, Seidman JG and McKenna W. Progress in familial hypertrophic cardiomyopathy: Molecular genetic analyses in Teare’s original family. Br Heart J. 1992;67(1):34-8. PMCID: PMC1024696.

Seidman CE and Seidman JG. Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy. Molec Biol Med. 1991;8:159-66.

Rosenzweig A, Watkins H, Hwang D S, Miri M, McKenna W, Traill TA, Seidman JG, Seidman CE. Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Eng J Med. 1991;325:1753-60.

Geisterfer Lowrance AAT, Kass S, Tanigawa G, Vosberg H P, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: A ß cardiac myosin heavy chain gene missense mutation. Cell. 1990;62:999 1006.

Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg H P, Seidman JG, Seidman CE. A molecular basis for familial hypertrophic cardiomyopathy: An /ß cardiac myosin heavy chain hybrid gene. Cell. 1990;62:991 998.

Solomon SD, Jarcho JA, McKenna W, Salerni R, Germain R, Seidman JG, Seidman CE. Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. J Clin Invest. 1990;86:993 999.

Solomon SD, Lowrance A, Vosberg P, Jarcho JA, Morton C, McBride WO, McKenna W, Seidman JG, Seidman CE. The locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin genes, CRI L436, and CRI L329 on chromosomes 14q11 12. Amer J Hum Genet. 1990;47:389 394.

Jarcho JA, McKenna W, Pare JAP, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis Keller H, Seidman JG, Seidman, CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Eng J Med. 1989;321:1372 1378.

Lee RT, Bloch KD, Pfeffer JM, Pfeffer MA, Neer EJ, Seidman CE. Atrial natriuretic factor gene expression in ventricles of rats with spontaneous biventricular hypertrophy. J Clin Invest. 1987;81:431 434.