Cardiomyopathy Research
The Inherited Cardiomyopathy Program has active research investigations in three core areas:
- Genotype-Phenotype Correlation: the goal of these projects is to advance our understanding of the relationship between putative disease causing mutations and disease expression within and between families. Improved understanding of this relationship is critical to the provision of outstanding clinical care and to development of novel therapies.
- Prevalence and Disease Outcome: because recognition of inherited disease is often limited by practice patterns which are in turn heavily influenced by the urgent demands of caring for sick patients, an important proportion of inherited disease is misdiagnosed. As an example, we discovered that nearly 25% of patients undergoing heart transplant for end stage cardiomyopathy have inherited disease, whereas current recognition of inherited disease in this population is limited to 4% of patients. This research was presented at the International Society of Heart and Lung Transplant in Prague (2012).
- Novel Gene Discovery: collaborating with Dr. Arya Mani and the Yale Department of Genetics, and the National Institutes of Health, we helping families with clear inherited disease uncover the pathogenic gene mutation responsible for their family’s disease. Discoveries in this arena open disease treatment to novel therapeutics and improved prognostication.
PubMed List
2023
- Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.Madhani A, Sabogal N, Massillon D, Paul LD, Rodriguez C, Fine D, Helmke S, Winburn M, Kurian D, Raiszadeh F, Teruya S, Cohn E, Einstein AJ, Miller EJ, Connors LH, Maurer MS, Ruberg FL. J Am Heart Assoc. 2023 Aug; 2023 Jul 24. PMID: 37486082.
- Aficamten for Drug-Refractory Severe Obstructive Hypertrophic Cardiomyopathy in Patients Receiving Disopyramide: REDWOOD-HCM Cohort 3.Owens AT, Masri A, Abraham TP, Choudhury L, Rader F, Symanski JD, Turer AT, Wong TC, Tower-Rader A, Coats CJ, Fifer MA, Olivotto I, Solomon SD, Watkins HC, Heitner SB, Jacoby DL, Kupfer S, Malik FI, Meng L, Sohn R, Wohltman A, Maron MS. J Card Fail. 2023 Jul 18; 2023 Jul 18. PMID: 37473912.
- Design and Rationale the SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.Ruberg FL, Blaner WS, Chiuzan C, Connors LH, Einstein AJ, Fine D, Helmke S, Kurian D, Pandey S, Raiszadeh F, Rodriguez C, Sabogal N, Teruya S, Winburn M, Chung WK, Cohn E, Miller EJ, Kelly JW, Maurer MS. J Am Heart Assoc. 2023 Apr 18; 2023 Apr 17. PMID: 37066788.
- Effect of beta-blocker therapy on the response to mavacamten in patients with symptomatic obstructive hypertrophic cardiomyopathy.Wheeler MT, Jacoby D, Elliott PM, Saberi S, Hegde SM, Lakdawala NK, Myers J, Sehnert AJ, Edelberg JM, Li W, Olivotto I. Eur J Heart Fail. 2023 Feb; 2023 Feb 1. PMID: 36404399.
- Signaling network model of cardiomyocyte morphological changes in familial cardiomyopathy.Khalilimeybodi A, Riaz M, Campbell SG, Omens JH, McCulloch AD, Qyang Y, Saucerman JJ. J Mol Cell Cardiol. 2023 Jan; 2022 Nov 10. PMID: 36370475.
2022
- Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry.Gimeno JR, Olivotto I, Rodríguez AI, Ho CY, Fernández A, Quiroga A, Espinosa MA, Gómez-González C, Robledo M, Tojal-Sierra L, Day SM, Owens A, Barriales-Villa R, Larrañaga JM, Rodríguez-Palomares J, González-Del-Hoyo M, Piqueras-Flores J, Reza N, Chumakova O, Ashley EA, Parikh V, Wheeler M, Jacoby D, Pereira AC, Saberi S, Helms AS, Villacorta E, Gallego-Delgado M, de Castro D, Domínguez F, Ripoll-Vera T, Zorio-Grima E, Sánchez-Martínez JC, García-Álvarez A, Arbelo E, Mogollón MV, Fuentes-Cañamero ME, Grande E, Peña C, Monserrat L, Lakdawala NK. ESC Heart Fail. 2022 Aug; 2022 Jun 3. PMID: 36255281.
- Pragmatic randomized trial assessing the impact of digital health technology on quality of life in patients with heart failure: Design, rationale and implementation.Victoria-Castro AM, Martin M, Yamamoto Y, Ahmad T, Arora T, Calderon F, Desai N, Gerber B, Lee KA, Jacoby D, Melchinger H, Nguyen A, Shaw M, Simonov M, Williams A, Weinstein J, Wilson FP. Clin Cardiol. 2022 Aug; 2022 Jul 12. PMID: 35822275.
- Sarcomere protein modulation: The new frontier in cardiovascular medicine and beyond.Morelli C, Ingrasciotta G, Jacoby D, Masri A, Olivotto I. Eur J Intern Med. 2022 Aug; 2022 May 6. PMID: 35534374.
- Muscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy.Riaz M, Park J, Sewanan LR, Ren Y, Schwan J, Das SK, Pomianowski PT, Huang Y, Ellis MW, Luo J, Liu J, Song L, Chen IP, Qiu C, Yazawa M, Tellides G, Hwa J, Young LH, Yang L, Marboe CC, Jacoby DL, Campbell SG, Qyang Y. Circulation. 2022 Apr 19; 2022 Apr 6. PMID: 35384713.
- Risk and predictors of mortality after implantable cardioverter-defibrillator implantation in patients with sarcoid cardiomyopathy.Higgins AY, Annapureddy AR, Wang Y, Minges KE, Bellumkonda L, Lampert R, Rosenfeld LE, Jacoby DL, Curtis JP, Miller EJ, Freeman JV. Am Heart J. 2022 Apr; 2021 Dec 27. PMID: 34968442.
- Automated multilabel diagnosis on electrocardiographic images and signals.Sangha V, Mortazavi BJ, Haimovich AD, Ribeiro AH, Brandt CA, Jacoby DL, Schulz WL, Krumholz HM, Ribeiro ALP, Khera R. Nat Commun. 2022 Mar 24; 2022 Mar 24. PMID: 35332137.
2021
- Effect of Mavacamten on Echocardiographic Features in Symptomatic Patients With Obstructive Hypertrophic Cardiomyopathy.Hegde SM, Lester SJ, Solomon SD, Michels M, Elliott PM, Nagueh SF, Choudhury L, Zemanek D, Zwas DR, Jacoby D, Wang A, Ho CY, Li W, Sehnert AJ, Olivotto I, Abraham TP. J Am Coll Cardiol. 2021 Dec 21. PMID: 34915982.
- Predictors of Major Atrial Fibrillation Endpoints in the National Heart, Lung, and Blood Institute HCMR.Kramer CM, DiMarco JP, Kolm P, Ho CY, Desai MY, Kwong RY, Dolman SF, Desvigne-Nickens P, Geller N, Kim DY, Maron MS, Appelbaum E, Jerosch-Herold M, Friedrich MG, Schulz-Menger J, Piechnik SK, Mahmod M, Jacoby D, White J, Chiribiri A, Helms A, Choudhury L, Michels M, Bradlow W, Salerno M, Dawson DK, Weinsaft JW, Berry C, Nagueh SF, Buccarelli-Ducci C, Owens A, Casadei B, Watkins H, Weintraub WS, Neubauer S. JACC Clin Electrophysiol. 2021 Nov; 2021 Jun 30. PMID: 34217663.
- Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.Nauffal V, Marstrand P, Han L, Parikh VN, Helms AS, Ingles J, Jacoby D, Lakdawala NK, Kapur S, Michels M, Owens AT, Ashley EA, Pereira AC, Rossano JW, Saberi S, Semsarian C, Ware JS, Wittekind SG, Day S, Olivotto I, Ho CY. Eur Heart J. 2021 Oct 7. PMID: 36282238.
- Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.Nauffal V, Marstrand P, Han L, Parikh VN, Helms AS, Ingles J, Jacoby D, Lakdawala NK, Kapur S, Michels M, Owens AT, Ashley EA, Pereira AC, Rossano JW, Saberi S, Semsarian C, Ware JS, Wittekind SG, Day S, Olivotto I, Ho CY. Eur Heart J. 2021 Oct 7. PMID: 34491319.
- Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.Abou Ziki MD, Bhat N, Neogi A, Driscoll TP, Ugwu N, Liu Y, Smith E, Abboud JM, Chouairi S, Schwartz MA, Akar JG, Mani A. Hum Mutat. 2021 Oct; 2021 Jul 29. PMID: 34289528.
- Loss of crossbridge inhibition drives pathological cardiac hypertrophy in patients harboring the TPM1 E192K mutation.Sewanan LR, Park J, Rynkiewicz MJ, Racca AW, Papoutsidakis N, Schwan J, Jacoby DL, Moore JR, Lehman W, Qyang Y, Campbell SG. J Gen Physiol. 2021 Sep 6; 2021 Jul 28. PMID: 34319370.
- Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM. Genet Med. 2021 Jul; 2021 Mar 29. PMID: 33782553.
- Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial.Spertus JA, Fine JT, Elliott P, Ho CY, Olivotto I, Saberi S, Li W, Dolan C, Reaney M, Sehnert AJ, Jacoby D. Lancet. 2021 Jun 26; 2021 May 15. PMID: 34004177.
- Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.Marston NA, Han L, Olivotto I, Day SM, Ashley EA, Michels M, Pereira AC, Ingles J, Semsarian C, Jacoby D, Colan SD, Rossano JW, Wittekind SG, Ware JS, Saberi S, Helms AS, Ho CY. Eur Heart J. 2021 May 21. PMID: 33769460.