Research and Scholarly Activities

The Inherited Cardiovascular Disease Program has active research investigations in three core areas:

1. 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.

2. 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).

3. 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.

Peer Review Publications

  • Captur G, Flett AS, Jacoby DL, Moon JC.  Left ventricular non-noncompaction: The mitral valve prolapse of the 21st century?. Int J Cardiol. 2012 May 31 (epub ahead of schedule)
  • Jacoby D, McKenna WJ. Support for routine use of metabolic stress testing in hypertrophic cardiomyopathy. Am J Cardiol. 2012 May 15;109(10):1534-5.
  • Kaoukis A, Panagopoulou V, Mojibian HR, Jacoby D. Reverse Takotsubo cardiomyopathy associated with the consumption of an energy drink. Circulation. 2012 Mar 27;125(12):1584-5
  • Jacoby D, Albajrami O, Bellumkonda L. Natural history of end-stage LV dysfunction: has it improved from the classic Franciosa and Cohn Graph? Cardiol Clin. 2011 Nov;29(4):485-95
  • Jacoby D, McKenna WJ. Genetics of inherited cardiomyopathy. Eur Heart J. 2012 Feb;33(3):296-304
  • Jacoby, D., St Louis, T., Navarro, V. Hepatitis C practice routines among Connecticut's naturopathic physicians. Am J Gastroenterol. 2001 Sep; 96(9):2801-2802.
  • Jacoby, D. Doctors and torture. N Engl J Med. 2004; 351:1571-1574.

Abstracts

  • Isufi I, Barile A, Russell K, Hryniewicz K, Baker J, Medoff E, Jacoby D, Lee F, Moss F, Cooper D, Seropian S. Brain Natriuretic Peptide (BNP) Elevations in Allogenic Stem Cell Transplant (ASCT) Recipients at the Time of WBC Engraftment. Correlation with Engraftment Syndrome and Cardiac Dysfunction. American Society of Hematology December 2011
  • Depasquale E, Jacoby D, Lee F. Risks of Invasive Hemodynamics in UNOS 1A Patients. International Society of Heart Lung Transplant 2010
  • Jacoby D, Depasquale E, Laur O, Pomianowski P, McKenna WJ.  Familial Dilated Cardiomyopathy (FDCM) Prevalence Among End-Stage Non-Ischemic Heart Failure (ESHF). International Society of Heart Lung Transplant 2012 – Oral Presentation
  • Depasquale E, Dries D, McKenna WL, Jacoby D.  Outcomes of Familial Dilated Cardiomypathy Post-Transplant. International Society of Heart Lung Transplant 2012 – Oral Presentation
  • Depasquale E, Nasir K, Bellumkonda L, Mangi A, Dries D, Jacoby D.  Outcomes of Adults with Restrictive Cardiomyopathy Post Heart Transplant: UNOS Registry Analysis.  International Society of Heart Lung Transplant 2012 – Oral Presentation
  • Depasquale E, Jacoby D.  Outcomes in Patients Older Than 65 Years of Age Post Heart Transplant (HT).  Heart Failure Society of America 2012 – Poster Presentation