Cardiomyopathy

Current Clinical Summary

Patients included in the clinic have a suspected or documented diagnosis of inherited cardiomyopathy.  This includes all major categories of inherited cardiomyopathy: hypertrophic, dilated, restrictive and arrhythmogenic, and unclassified.  The clinic will offer a unique combination of expertise in genetics and genetic counseling, as well as in clinical evaluation, treatment, and prognostication. 

History

In the northeast there is currently only one widely recognized center for inherited cardiomyopathy located at Harvard Partners in Boston, MA.  Several small programs have come into existence in New York, NY but these are limited in size and scope.  The burden of disease is estimated at between 1 in 250 to 1 in 5000 depending on the disease type yielding a total population of over 20,000 affected individuals in Connecticut alone.  It is estimated that 1 in 10 affected individuals has or will come to medical attention yielding a potential clinic population of 2000 patients.  Because of the nature of inherited disease, routine family screening using clinical visits, cardiac imaging, and genetic testing is necessary in multiple family members of patients with identified disease increasing the capturable patient population by an order of 100 to 200%. 

Proposed

While there are currently several clinics specializing in inherited heart disease in region as noted above, there are none in Connecticut.  In addition, our association with Professor Bill McKenna and UCL, as well at the Yale name, offers us considerable name recognition and a tremendous amount of organizational and clinical experience upon which to build our practice.  Where other clinics may be focused in one particular area, many have limited ability to manage the clinical expression of genetic disease, or may have limited access to top-level clinical geneticists, our clinic offers all of these in a single setting. 

Over the past year we have created an interdisciplinary team of practitioners to care for these patients, including interventional cardiology, cardiothoracic surgery, electrophysiology, and heart failure/heart transplant cardiologists. The ICM clinic is co-directed by Daniel Jacoby who is an Assistant Professor of Internal Medicine in the Division of Cardiology at the Yale School of Medicine with clinical experience in heart failure, heart transplant, congenital heart disease, and inherited cardiomyopathy.  The program's other co-director is William McKenna who is a Professor of Cardiology at the University College of London with a world-wide reputation as an expert in Inherited Cardiomyopathy.

Resources

In order to establish a world class program that is multidisciplinary and supports research and clinical excellence the following specialist are needed:

Administrative: Currently the administrative assistant serving a dual role in supporting the office functions and the work of the Inherited Cardiomyopathy Clinic. With a dedicated team, a dedicated administrative assistant (ICM Office Specialist) will be necessary to liase with patients and referrings, maintain office operations, attend clinic as an additional MA for patient support, and assist with data collection and entry as necessary.

Professional Data Base Management:  Database management is essential in maintaining security and confidentiality of patient records and information.  A database spec was developed in collaboration with UCL and Yale IT services.  The cost of this project was projected to be about 100,000 dollars.  In order to facilitate QA/PI development of a hospital based database is underway.  Diane Collins is working on this project from the hospital side.

Yale Cardiology: The clinic would advance with the involvement of cardiologists that specialize in inherited cardiomyopathy.  Salary support and stipends are not required for involvement of the individuals below.
  • Dr. Daniel Jacoby has established the current clinic structure with the support of Professor William McKenna of UCL.
  • Drs. Arya Mani  and Frank Giordano are structuring integration with the divisional goals of translational genetics.
  • Dr. Mike Clemen and Dr. Jeremy Asnes have expressed interest in training to become proficient at catheter based septal ablations for treatment of obstructive hypertrophic myopathies.
  • Drs. Joseph Akar and Jude Clancy are identified as the electrophysiologist for review and evaluations of inherited arrhythmia cases.
  • Drs. Martina Breukner and Kevin Hall are identified as the pediatric cardiologist for review and evaluation of pediatric cases. 
Yale Cardiac Surgery:
  • Identification of a Yale based CT surgeon for specialization in myectomy is necessary over the intermediate range (1 year).  In the interim, collaboration with Professor Christopher McGregor of UCL is in the planning phase.
Yale Genetics: The clinic will continue to advance with involvement of a geneticist with a focused interest in inherited cardiomyopathies.  Salary support and stipends are not required for involvement of the individual below.
  • Dr. Margretta Seashore has been providing genetics support and expertise for the clinic on a monthly basis.
University College of London:
  • Professor William McKenna is functioning as senior clinician and program advisor.  He has been traveling to the US to attend clinics every 1-2 months.
  • Shaughan Dickie is the database manager for the ICM clinic at UCL and has been interfacing with the Yale informatics group for establishment of an updated database for use at both institutions.
Educational Mission:
  • Medical Student: a summer research program for medical students was initiated during the summer of 2011.  This project is supported with medical student summer research project funds through the office of medical education.
  • Cardiology Fellow: a year long combined specialty fellowship in Cardiomyopathy and Echocardiography was initiated beginning July 1, 2011.  Eugene Depasquale is the first fellow in this program. 
Organization of the Clinic:
  • The clinic has transitioned to a program
  • Propose a separate cost center
  • Term and compensation as determined by YSM
  • Ideal to establish office space for Professor McKenna to use when in town
  • Staged growth of exam room space. 
  • Echo support provided for each clinic session.
  • Intense Marketing effort both nationally and internationally
  • Hospital will continue to provide salary support for the above positions