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Hypertrophic Cardiomyopathy Center

Research + Clinical Trials

In addition to providing world-class care for patients with HCM and their family members, the Tufts Medical Center HCM Center is at the forefront of scientific clinical research aimed at improving diagnosis and management strategies for all patients with hypertrophic cardiomyopathy. Our team is currently involved in a variety of investigative research projects focused on identifying mechanisms of HCM disease expression which may ultimately lead to future therapies to improve the lives of our patients. In addition, we are a leading Center for clinical trials evaluating the efficacy of a number of recent novel drug therapies aimed at mitigating limiting symptoms in patients with HCM.  

At Tufts Medical Center, hypertrophic cardiomyopathy is a treatable genetic heart disease compatible with normal or extended longevity (often without the requirement of major treatments). Our national/international HCM Referral Center has established this principle for patients with this genetic disease over the past 15 years.

Interested in Participating in a Study or Clinical Trial?

If you are a patient interested in hearing more about our research or participating in one of our studies, please contact our Center and leave a message with Sue Costa. One of our team members will reach out to you promptly. Sue can be reached at scosta@tuftsmedicalcenter.org or 617-636-8066 (opt. 1).

The following is a sampling of our most current research:

1.       Signaling Pathways Within HCM

Research study of the heart muscle removed after surgical septal myectomy evaluating the HCM disease process using network theory methods to identify important biologic interactions unique to HCM that promote increased wall thickness and heart muscle scarring. This may ultimately led to developing novel treatments aimed at improving symptoms or mitigating disease progression. 

2.       Effect of Eleclazine (GS-6615) on Exercise Capacity with Symptomatic Hypertrophic Cardiomyopathy (Liberty-HCM)

Dr. Maron is the US primary investigator for an international clinical trial which is evaluating a novel drug called eleclazine, developed by Gilead Sciences, in the treatment of limiting symptoms in patients with HCM. Learn more >

3.       Safety, Tolerability and Preliminary Pharmacokinetics and Pharmacodynamis of MYK-461

The Tufts HCM Institute is participating in early human clinical studies evaluating the safety and tolerability of a novel drug (MYK-461), developed for the treatment of limiting symptoms in patients with HCM. Learn more >

4.       Novel Markers of Prognosis in HCM (HCMR)

National Heart, Lung and Blood Institute (NHLBI) sponsored international study evaluating demographic, clinical, and novel CMR, genetic and biomarker variables to develop a predictive model of cardiovascular outcomes within HCM. Learn more >

5.       3D-Printing Model for Surgical Myectomy Planning

Study to evaluate the efficacy of a 3-D printed model to help guide surgical planning for septal myectomy.  A model that accurately reproduces an individual patient anatomy may ultimately lead to shorter cardiopulmonary bypass times as well as improve surgical training of the unique techniques required for this operation.  

The following are select, clinically impactful scientific publication from the Tufts Medical Center HCM Center. (Authors in BOLD are Tufts MC physicians.)

1.       Rowin, EJ, Maron, BJ, Haas, TS, Garberich, RF, Wang, W, Link, MS, Maron, MS. Hypertrophic Cardiomyopathy With Left Ventricular Apical Aneurysm: Implications for Risk Stratification and Management. JACC. 2016; vol. 69 no. 7 761-773.

A previously under-recognized subset of hypertrophic cardiomyopathy (HCM) patients with left ventricular (LV) apical aneurysms is being identified with increasing frequency. However, risks associated with this subgroup are unknown.

2.       Maron, BJ, Rowin, EJ, Casey, SA; Maron, MS. How Hypertrophic Cardiomyopathy Became a Contemporary Treatable Genetic Disease With Low Mortality Shaped by 50 Years of Clinical Research and Practice. JAMA Cardiol. 2016;1(1):98-105

A constellation of comprehensive non-pharmacologic HCM management strategies have evolved over the last 15 years, including implantable defibrillators, heart transplant, external defibrillation/therapeutic hypothermia, advances in surgical myectomy, and alcohol ablation. Large cohort studies now show significantly improved survival rates with a low HCM-related mortality of 0.5% per year across all ages characteristically with the most aggressive disease course. Thus preserving life, restoring an active lifestyle, and providing many patients with a reasonable expectation for an extended (if not normal) life span.

3.       Maron BJ, Rowin EJ, Casey SA, Lesser JR, Garberich RF, McGriff DM, Maron MS. Hypertrophic Cardiomyopathy in Children, Adolescents, and Young Adults Associated With Low Cardiovascular Mortality With Contemporary Management Strategies. Circulation. 2016 Jan 5;133(1):62-73

Study evaluating clinical course in children and young adults with HCM.  In the past it was felt children and young adults with HCM had high mortality rates.   While younger individuals have potentially higher rates of adverse events, with modern treatments survival free of symptoms is excellent.

4.       Maron BJ, Rowin EJ, Casey SA, Link MS, Lesser JR, Chan RH, Garberich RF, Udelson JE, Maron MS. Hypertrophic Cardiomyopathy in Adulthood Associated With Low Cardiovascular Mortality With Contemporary Management Strategies. J Am Coll Cardiol. 2015 May 12;65(18):1915-28

With optimal modern treatment strategies adult HCM patients have excellent survival with an HCM related mortality rate no different than the mortality rate of the general US population. This finding emphasizes the improvement in treatment over the past several decades in HCM patients.  

5.       Maron BJ, Udelson JE, Bonow RO, Nishimura RA, Ackerman MJ, Estes NA 3rd, Cooper LT Jr, Link MS, Maron MS; Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: Task Force 3: Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Other Cardiomyopathies, and Myocarditis: A Scientific Statement From the American Heart Association and American College of Cardiology. Circulation. 2015 Dec 1;132(22):e273-80

American Heart Association and American College of Cardiology guidelines for participation in competitive sports for patients with HCM.  Athletes with an unequivocal diagnosis of HCM should not participate in most competitive sports. 

6.       Weinstock J, Bader YH, Maron MS, Rowin EJ, Link MS. Subcutaneous Implantable Cardioverter Defibrillator in Patients With Hypertrophic Cardiomyopathy: An Initial Experience. J Am Heart Assoc. 2016 Feb 12;5(2).

Study demonstrating the efficacy of the new subcutaneous ICD (a device without transvenous leads) in terminating ventricular arrhythmias in patients with HCM.

7.       Rowin EJ, Maron BJ, Kiernan MS, Casey SA, Feldman DS, Hryniewicz KM, Chan RH, Harris KM, Udelson JE, DeNofrio D, Roberts WC, Maron MS. Advanced heart failure with preserved systolic function in nonobstructive hypertrophic cardiomyopathy: under-recognized subset of candidates for heart transplant. Circ Heart Fail 2014 7(6):967-75

Descriptive study of a rare but important subset of HCM patients who develop severe heart failure symptoms in the absence of LV outflow obstruction and with normal systolic function (normal pumping function) and require heart transplantation for treatment. 

8.       Chan RH, Maron BJ, Olivotto I, Pencina MJ, Assenza GE, Haas T, Lesser JR, Gruner C, Crean AM, Rakowski H, Udelson JE, Rowin EJ, Lombardi M, Cecchi F, Tomberli B, Spirito P, Formisano F, Biagini E, Rapezzi C, De Cecco CN, Autore C, Cook EF, Hong SN, Gibson CM, Manning WJ, Appelbaum E, Maron MS.  Risk for sudden death assessed by prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy. Circulation 2014;130:484-95.

Multicenter international study demonstrating that the extent of fibrosis/scarring (late gadolinium enhancement) seen on contrast enhanced CMR is an independent risk marker for ventricular arrhythmias in HCM patients.  This study has led to the proposal that extensive amounts of scarring/fibrosis is deserving for consideration of ICD placement. 

9.       Maron BJ, Maron MS. The 25-year genetic era in hypertrophic cardiomyopathy: revisited. Circ Cardiovasc Genet 2014;7:401-4.

Review article discussing the evolution of genetic testing within HCM.  At present time genetic testing does not predict prognosis within HCM however if a known genetic mutation is identified, genetic testing can be a useful strategy in screening of family members. 

10.       Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol 2014;64:83-99.

Review article outlining modern treatment strategies for patients with HCM. 

11.       Maron BJ, Rastegar H, Udelson JE, Dearani JA, Maron MS. Contemporary surgical management of hypertrophic cardiomyopathy, the need for more myectomy surgeons and disease-specific centers and the Tufts initiative. Am J Cardiol 2013:112:1512-5. 

The initial 10 year experience of the Tufts Medical Centers surgical myectomy program and its efficacy in improving heart failure symptoms in obstructive HCM patients with low surgical mortality rates. 

12.   Maron, BJ; Spirito, P; Ackerman, MJ; Casey, SA; Semsarian, C; Estes, NA; Shannon, KM; Ashley, EA; Day, SM; Pacileo, G; Formisano, F; Devoto, E; Anastasakis, A; Bos, JM; Woo, A; Autore, C; Pass, RH; Boriani, G; Garberich, RF; Almquist, AK; Russell, MW; Boni, L; Berger, S; Maron, MS; Link, MS. Prevention of sudden cardiac death with implantable cardioverter-defibrillators in children and adolescents with hypertrophic cardiomyopathy. J Am Coll. Cardiol 2013;61:1527-35.

Multicenter international study describing the efficacy of the ICD in preventing sudden death in high risk children and adolescents with HCM. 

13.   Olivotto I, Maron BJ, Tomberli B, Appelbaum E, Salton C, Haas TS, Gibson CM, Nistri S, Servettini E, Chan RH, Udelson JE, Lesser JR, Cecchi F, Manning WJ, Maron MS. Obesity and its association to phenotype and clinical course in hypertrophic cardiomyopathy. J Am Coll Cardiol 2013;62:449-57.

Evaluation of the impact of weight on clinical course of HCM patients.  Obesity is independently associated with development of worsening symptoms in HCM. 

14.   Maron BJ, Rowin EJ, Casey SA, Haas TS, Chan RH, Udelson JE, Garberich RF, Lesser JR, Appelbaum E, Manning WJ, Maron MS. Risk stratification and outcome in patients with hypertrophic cardiomyopathy over 60 years of age. Circulation 2012, in press.

Evaluation of the impact of weight on clinical course of HCM patients.  Obesity is independently associated with development of worsening symptoms in HCM. 

15.   Maron MS, Kalsmith B, Udelson JE, Li W, Denofrio D. Survival following cardiac transplantation in patients with hypertrophic cardiomyopathy. Circ: Heart Failure 2010; 3(5): 574-79

HCM patients who require heart transplantation compose a small subset (1%) of the overall population who undergo heart transplantation in the US.  Nonetheless survival after transplant among HCM patients is comparable (and may be enhanced) to that of patients transplanted for other forms of cardiovascular disease. 

16.   Maron MS, Maron BJ, Harrigan C, Buros J, Gibson CM, Olivotto I, Biller L, Lesser JR, Udelson JE, Manning WJ, Appelbaum, E. Hypertrophic cardiomyopathy phenotype revisited after 50 years with cardiovascular magnetic resonance. J Am Coll Cardiol 2009;54:220-8.

LV hypertrophy in HCM is often not extensive, involving less than 50% of the heart in half of HCM patients.  Cardiac MRI plays an important role in defining the location and extent of hypertrophy in HCM. 

17.   Maron MS, Finley JJ, Bos JM, Hauser RH, Manning WJ, Haas TS, Lesser JR, Udelson JE, Ackerman MJ, Maron BJ. Prevalence, clinical significance and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. Circulation 2008;118:1541-1549

Study describing a novel and rare-phenotype of HCM patients who develop thin walled aneurysms in the LV apex.  These patients appear to be at increased risk for ventricular arrhythmias as well as thromboembolic events (such as stoke) and thereby deserve consideration for ICD placement and anticoagulation for stroke preventions. 

18.   Maron MS, Olivotto I, Zenovich AG, Udelson JE, Link MS, Pandian NG, Kuvin JT, Nistri S, Cecchi F, Maron BJ. Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction. Circulation. 2006; 114:2232-2239.

Over two-thirds of HCM patients have LV outflow obstruction, including one-third of patients who have provocable obstruction.  This finding altered the previous perception that outflow obstruction occurred in only the minority of HCM patients and supports the routine use of stress echocardiogram for evaluation of HCM patients with symptoms. 

19.   Maron MS, Olivotto I, Betocchi S, Casey, SA, Lesser JR, Losi MA, Cecchi F, Maron BJ. Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. N Engl J Med 2003;348:295-303.

Multicenter study demonstrating that LV outflow obstruction at rest is a strong independent predictor of future progression to severe heart failure symptoms

The 2011 American College of Cardiology (ACCF)/American Heart Association (AHA) Guideline for the Diagnosis and Treatment of HCM guides practices for this disease. Two members of our HCM Center played a major role in formulating these seminal recommendations: 

Sue Costa is the coordinator in the Hypertrophic Cardiomyopathy Center at Tufts Medical Center in downtown Boston, MA.

For an appointment, contact our HCM Center Coordinator Sue Costa. She will help you.

Phone: 866-972-3678
Email: scosta2@tuftsmedicalcenter.org

Father, son Cardiovascular Specialists, Barry and Martin Maron, spread the word that HCM is now a manageable disease at Tufts Medical Center in downtown Boston, MA.

The father-son duo that’s changing a cardiac narrative

Drs. Barry and Marty Maron want you to know something: HCM is now a treatable disease compatible with normal longevity and a good quality of life.

Read the article