Heymans S, Lakdawala NK, Tschöpe C, Klingel K (2023) Dilated cardiomyopathy: causes, mechanisms, and current and future treatment approaches. Lancet 402(10406):998–1011

Google Scholar 

Reichart D, Magnussen C, Zeller T, Blankenberg S (2019) Dilated cardiomyopathy: from epidemiologic to genetic phenotypes: A translational review of current literature. J Intern Med 286(4):362–372

Google Scholar 

Schultheiss HP, Fairweather D, Caforio ALP, Escher F, Hershberger RE, Lipshultz SE, Liu PP, Matsumori A, Mazzanti A, McMurray J, Priori SG (2019) Dilated cardiomyopathy. Nat Rev Dis Primers 5(1):32

Google Scholar 

McNally EM, Mestroni L (2017) Dilated cardiomyopathy: genetic determinants and mechanisms. Circ Res 121(7):731–748

Google Scholar 

Eldemire R, Mestroni L, Taylor MRG (2024) Genetics of dilated cardiomyopathy. Annu Rev Med 75:417–426

Google Scholar 

Kaski JP, Cannie D (2023) Clinical screening for dilated cardiomyopathy in At-Risk First-Degree relatives: Who, When, and how? J Am Coll Cardiol 81(21):2072–2074

Google Scholar 

Rosenbaum AN, Agre KE, Pereira NL (2020) Genetics of dilated cardiomyopathy: practical implications for heart failure management. Nat Rev Cardiol 17(5):286–297

Google Scholar 

Carrier L, Mearini G, Stathopoulou K, Cuello F (2015) Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology. Gene 573(2):188–197

Google Scholar 

Mahdieh N, Hosseini Moghaddam M, Motavaf M, Rabbani A, Soveizi M, Maleki M, Rabbani B, Alizadeh-Asl A (2018) Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance. J Clin Lab Anal 32(6):e22419

Google Scholar 

Marian AJ (2021) Molecular genetic basis of hypertrophic cardiomyopathy. Circ Res 128(10):1533–1553

Google Scholar 

de Frutos F, Ochoa JP, Fernández AI, Gallego-Delgado M, Navarro-Peñalver M, Casas G, Basurte MT, Larrañaga-Moreira JM, Mogollón MV, Robles-Mezcua A, García-Granja PE, Climent V, Palomino-Doza J, García-Álvarez A, Brion M, Brugada R, Jiménez-Jáimez J, Bayes-Genis A, Ripoll-Vera T, Peña-Peña ML, Rodríguez-Palomares JF, Gonzalez-Carrillo J, Villacorta E, Espinosa MA, Garcia-Pavia P, Mirelis JG (2023) Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation. Eur Heart J Cardiovasc Imaging 25(1):75–85

Google Scholar 

Blagova O, Pavlenko E, Sedov V, Kogan E, Polyak M, Zaklyazminskaya E, Lutokhina Y (2022) Different phenotypes of sarcomeric MyBPC3-cardiomyopathy in the same family: hypertrophic, left ventricular noncompaction and restrictive phenotypes (in association with sarcoidosis). Genes (Basel) 13(8):1344

Rasicci DV, Tiwari P, Bodt SML, Desetty R, Sadler FR, Sivaramakrishnan S, Craig R, Yengo CM (2022) Dilated cardiomyopathy mutation E525K in human beta-cardiac myosin stabilizes the interacting-heads motif and super-relaxed state of myosin. Elife 11:e77415

Yang KC, Breitbart A, De Lange WJ, Hofsteen P, Futakuchi-Tsuchida A, Xu J, Schopf C, Razumova MV, Jiao A, Boucek R, Pabon L, Reinecke H, Kim DH, Ralphe JC, Regnier M, Murry CE (2018) Novel Adult-Onset systolic cardiomyopathy due to MYH7 E848G mutation in Patient-Derived induced pluripotent stem cells. JACC Basic Transl Sci 3(6):728–740

Google Scholar 

Toepfer CN, Wakimoto H, Garfinkel AC, McDonough B, Liao D, Jiang J, Tai AC, Gorham JM, Lunde IG, Lun M, Lynch TL, McNamara JW, Sadayappan S, Redwood CS, Watkins HC, Seidman JG, Seidman CE (2019) Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin. Sci Transl Med 11(476):eaat1199

Ansari AA, Wang YC, Danner DJ, Gravanis MB, Mayne A, Neckelmann N, Sell KW, Herskowitz A (1991) Abnormal expression of histocompatibility and mitochondrial antigens by cardiac tissue from patients with myocarditis and dilated cardiomyopathy. Am J Pathol 139(2):337–354

Google Scholar 

Katagiri T, Kitsu T, Akiyama K, Takeyama Y, Niitani H (1987) Alterations in fine structures of myofibrils and structural proteins in patients with dilated cardiomyopathy–studies with biopsied heart tissues. Jpn Circ J 51(6):682–688

Google Scholar 

Karakikes I, Ameen M, Termglinchan V, Wu JC (2015) Human induced pluripotent stem Cell-Derived cardiomyocytes insights into Molecular, Cellular, and functional phenotypes. Circul Res 117(1):80–88

Google Scholar 

Ntelios D, Meditskou S, Efthimiadis G, Pitsis A, Zegkos T, Parcharidou D, Theotokis P, Alexouda S, Karvounis H, Tzimagiorgis G (2022) α-Myosin heavy chain (MYH6) in hypertrophic cardiomyopathy: prominent expression in areas with vacuolar degeneration of myocardial cells. Pathol Int 72(5):308–310

Google Scholar 

Thomas D (2014) Allometric relations and scaling laws for the cardiovascular system. Mamm Syst 2(2):168–185

Google Scholar 

Takahashi K, Yamanaka S (2006) Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126(4):663–676

Google Scholar 

Kehat I, Kenyagin-Karsenti D, Snir M, Segev H, Amit M, Gepstein A, Livne E, Binah O, Itskovitz-Eldor J, Gepstein L (2001) Human embryonic stem cells can differentiate into myocytes with structural and functional properties of cardiomyocytes. J Clin Invest 108(3):407–414

Google Scholar 

Smith AS, Macadangdang J, Leung W, Laflamme MA, Kim DH (2017) Human iPSC-derived cardiomyocytes and tissue engineering strategies for disease modeling and drug screening. Biotechnol Adv 35(1):77–94

Google Scholar 

Lin Y, Linask KL, Mallon B, Johnson K, Klein M, Beers J, Xie W, Du Y, Liu C, Lai Y, Zou J, Haigney M, Yang H, Rao M, Chen G (2017) Heparin promotes cardiac differentiation of human pluripotent stem cells in chemically defined Albumin-Free Medium, enabling consistent manufacture of cardiomyocytes. Stem Cells Transl Med 6(2):527–538

Google Scholar 

Helms AS, Tang VT, O’Leary TS, Friedline S, Wauchope M, Arora A, Wasserman AH, Smith ED, Lee LM, Wen XW, Shavit JA, Liu AP, Previs MJ, Day SM (2020) Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy. JCI Insight 5(2):e133782

Google Scholar 

Barefield D, Kumar M, de Tombe PP, Sadayappan S (2014) Contractile dysfunction in a mouse model expressing a heterozygous MYBPC3 mutation associated with hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol 306(6):H807–H815

Google Scholar 

Gacita AM, Fullenkamp DE, Ohiri J, Pottinger T, Puckelwartz MJ, Nobrega MA, McNally EM (2021) Genetic variation in enhancers modifies cardiomyopathy gene expression and progression. Circulation 143(13):1302–1316

Google Scholar 

Zhang XL, Xie J, Lan RF, Kang LN, Wang L, Xu W, Xu B (2020) Genetic basis and Genotype-Phenotype correlations in Han Chinese patients with idiopathic dilated cardiomyopathy. Sci Rep 10(1):2226

Google Scholar 

Streckfuss-Bömeke K, Tiburcy M, Fomin A, Luo X, Li W, Fischer C, Özcelik C, Perrot A, Sossalla S, Haas J, Vidal RO, Rebs S, Khadjeh S, Meder B, Bonn S, Linke WA, Zimmermann WH, Hasenfuss G, Guan K (2017) Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes. J Mol Cell Cardiol 113:9–21

Google Scholar 

Shah D, Virtanen L, Prajapati C, Kiamehr M, Gullmets J, West G, Kreutzer J, Pekkanen-Mattila M, Heliö T, Kallio P, Taimen P, Aalto-Setälä K (2019) Modeling of LMNA-related dilated cardiomyopathy using human induced pluripotent stem cells. Cells 8(6):594

Powers JD, Malingen SA, Regnier M, Daniel TL (2021) The sliding filament theory since Andrew huxley: multiscale and multidisciplinary muscle research. Annu Rev Biophys 50:373–400

Google Scholar 

Sibbles ET, Waddell HMM, Mereacre V, Jones PP, Munro ML (2022) The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias. Biophys Rev 14(1):329–352

Google Scholar 

Wleklinski MJ, Kryshtal DO, Kim K, Parikh SS, Blackwell DJ, Marty I, Iyer VR, Knollmann BC (2022) Impaired dynamic sarcoplasmic reticulum Ca buffering in autosomal dominant CPVT2. Circ Res 131(8):673–686

Google Scholar 

Stanczyk PJ, Seidel M, White J, Viero C, George CH, Zissimopoulos S, Lai FA (2018) Association of cardiac myosin-binding protein-C with the Ryanodine receptor channel - putative retrograde regulation? J Cell Sci 131(15):jcs210443

Google Scholar 

Steinberg C, Roston TM, van der Werf C, Sanatani S, Chen SRW, Wilde AAM, Krahn AD (2023) RYR2-ryanodinopathies: from calcium overload to calcium deficiency. Europace 25(6):euad156

Google Scholar 

Wescott AP, Jafri MS, Lederer WJ, Williams GS (2016) Ryanodine receptor sensitivity governs the stability and synchrony of local calcium release during cardiac excitation-contraction coupling. J Mol Cell Cardiol 92:82–92

Google Scholar