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Cardiology

Research

James C. Perry, M.D.
Dr. Perry's research pertains to clinical research efforts in electrophysiology and adult congenital heart disease. He has been a leader in research pertaining to Wolff-Parkinson-White syndrome, antiarrhythmic drugs in pediatrics, long QT syndrome, postoperative arrhythmia management and developing technologies for transcatheter electrophysiologic procedures. His current research focuses on pediatric arrhythmias and pacing and on clinical studies in the adult population with congenital heart disease. In the latter, his focus is on the interaction of hemodynamics and abnormalities of cardiac rhythm and the manifestations of heart failure in adult CHD patients.

Perry JC, Boramanand NK, Ing FF. "Transseptal" technique through atrial baffles for 3-dimensional mapping and ablation of atrial tachycardia in patients with d-transposition of the great arteries. J Interven Cardiovasc Electrophysiol 2003;9:365-9.

Pecht B, Maginot KR, Boramanand NK, Perry JC. Techniques to avoid atrioventricular block during radiofrequency catheter ablation of septal tachycardia substrates in young patients. J Interv Card Electrophysiol 2002 Aug;7(1):83-8.

Perry JC, Fenrich AL, Hulse JE, Triedman JK, Friedman RA, Lamberti JJ. Pediatric use of intravenous amiodarone: efficacy and safety in critically ill patients from a multicenter protocol. J Am Coll Cardiol 1996;27:1246-50.

Kugler JD, Danford DA, Deal B, Perry JC, Gillette PC, Silka MJ, Van Hare GF, Walsh E. Radiofrequency catheter ablation in children and adolescents: early results in 572 patients from 24 centers. N Engl J Med 1994;330:1481-7.

Perry JC, Garson A Jr. Supraventricular tachycardia due to Wolff-Parkinson-White inn children: early disappearance and late recurrence. J Am Coll Cardiol 1990:16:1215-1220.

Jeremy D. Asnes, M.D.
Dr. Asnes' research interests include the use of catheter therapies for stroke prevention, and cardiac device design. The Pediatric Cardiac Catheterization Laboratory will soon be participating in two pediatric interventional catheterization consortiums. These groups will bring together interventional cardiologists and resources from multiple centers across the country. The combined experience of these groups will allow participating institutions including The Children's Hospital at Yale New Haven Hospital to advance the understanding of congenital heart disease and provide the best possible care for their patients.

Rhodes JF, Blaufox AD, Seiden HS, Asnes JD, Gross RP, Rhodes JP, Griepp RB, Rossi AF. Cardiac arrest in infants after congenital heart surgery. Circulation. 1999 Nov 9;100(19 Suppl):II194-9.

Rhodes JF, Asnes JD, Blaufox AD, Sommer RJ Impact of low body weight on frequency of pediatric cardiac catheterization complications. Am J Cardiol. 2000 Dec 1;86(11):1275-8, A9.

Asnes RS, Asnes JD. "Pain." In RA Dershewitz ed. Ambulatory Pediatric Care, 3rd edition. J.B. Lipincott Company, Philadelphia. 1999.

Asnes JD, Joshi R, Kirsch J, White RD, Duncan BW. Interrupted Aortic Arch (Type B) with Bilateral Ductus Arteriosi and Bilateral Aberrant Subclavian Arteries. Circulation (in press).

Peter N. Bowers, M.D.
Dr. Bowers is investigating the pathogenesis of left heart obstruction, such as bicuspid aortic valve and hypoplastic left heart syndromes. He is studying aortic stenosis in several multigenerational pedigrees in collaboration with other centers abroad. He recently was awarded a R21 grant from the NIH for his work investigating the genetic causes of aortic stenosis.

Bowers PN, Tinney JP, and Keller BB: Nitroprusside selectively reduces ventricular preload in the stage 21 chick embryo. Cardiovascular Research 1996; 31: E132-E138.

Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers PN, Towbin JA, Casey B: Left-right axis malformations associated with mutations in ACVR2B, the gene for activin receptor type IIB. Am J Med Gen 82:70-76(1999).

Bowers PN, Greally JM, Nelson C, Ward DC, Guenthard J, Lifton RP: The physical mapping of an 11q23 translocation breakpoint in hypoplastic left heart syndrome. Circulation 2000; 102, 8, II-99, A472.

Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Towbin J, Bowers PN, Marino B, Schier AF, Shen M, Muenke M, Casey B: Loss-of-function mutations in the EGF-CFC gene CFC1are associated with human left-right laterality defects. Nature Genetics 26: 365-369 (2000).

State MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, Lifton RP, Ward DC. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proc Natl Acad Sci U. S. A. 2003 Apr 15; 100(8): 4684-9.

Martina Brueckner, M.D.
Dr. Brueckner's laboratory is studying what causes a particular type of congenital heart disease, called heterotaxy syndrome. This is a condition where the position of the heart and other organs along the left-right axis is not normal: for example, the heart can be on the right, instead of the left side of the body. Frequently, patients with heterotaxy have congenital heart disease, and they represent a significant percentage of patients with complex congenital heart disease seen by the pediatric cardiology service.

Dr. Brueckner's laboratory has identified genes, that when defective, can cause heterotaxy. Using mice which have the same genetic defects found in humans with heterotaxy, a pathway has been discovered that is required to normally position organs along the left-right axis. Her laboratory also discovered that a tiny structure found on cells in both the embryo and the adult, the cilium, is central to developing normal left-right asymmetry. Current research efforts are focused on further, more detailed understanding of how cilia in the early embryo lie at the root of heterotaxy-associated congenital heart disease.

Supp DM, Potter SS, Witte DP, Brueckner M. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature, 1997 389:963-966.

Supp DM, Brueckner M, Kuehn MR, Witte DP, Lowe LA, McGrath J, Corrales J, Potter SS. Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries. Development 1999 126: 5495-5504.

Essner JJ, Vogan KJ, Wagner MK, Tabin CJ, Yost HJ, Brueckner M. Conserved function for embryonic nodal cilia. Nature 418:37-38 (2002)

McGrath J, Brueckner M. Cilia are at the heart of vertebrate left-right asymmetry. Curr. Opin. Genet. Dev. 13:385-92 (2003)

McGrath J, Somlo S, Makova S, Tian X, Brueckner M. Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell 114:61-73 (2003)

John T. Fahey, M.D.
Over the last five years, Dr. Fahey has worked with Dr. Michael Cleman (the head of the adult interventional catheterization laboratory) in developing a collaborative approach to adult patients with congenital heart defects. This includes closure of patent foramen ovale (PFO) in young adults who have had a stroke due to a paradoxical embolus, older adult patients with ASD, PDA, pulmonary valve stenosis, coronary artery fistula and other coronary artery anomalies, and other more complex forms of congenital heart defects. The team has participated in trials of interventional catheter delivered devices to treat mitral insufficiency and mitral stenosis. Referreals also come from the regional Veterans Administration Hospital. These protocols serve as an excellent complimentary service for the Yale-New Haven Adult Congenital Heart Program.

Hamdan M, Maheshwari S, Fahey J, Hellenbrand W. Endovascular stents for coarctation of the aorta: Initial results and intermediate-term follow-up. J Am Coll Cardiol 38: 1518-23, 2001.

Fahey J, Jones-Bryant N, Karas D, Goldberg B, Destefano R, Gracco C. Exercise-induced stridor due to abnormal movement of the arytenoid area: Videoendoscopic diagnosis and characterization of the "at risk" group. Pediatr Pulmonology 39:51-55, 2005.

Fahey JT. Chest Pain. Chapter in: Rudolph's Pediatrics. Appleton &Lange, San Mateo , CA 2002.

Fahey J, Cooper D. Clinical Exercise Testing in Children. Chapter In: Progress in Respiratory Research: Clinical Exercise Testing. Karger 2002.

Alan H. Friedman, M.D.
Dr. Friedman's is the principle investigator for a research project that is evaluating the safety and efficacy of a drug (Synagis) to minimize the harmful effects of a respiratory virus on children with congenital heart disease. He also participates in research to evaluate the cardiovascular transition from the fetus to the newborn. He is also active in novel and innovative methods of pediatric resident education and systems management.

Friedman, AH and Factor, S (medical editors). The Complete Directory for People with Chronic Illness. Grey House Publishing, Lakeville, Connecticut, 2005.

Friedman, AH (medical editor). The Complete Directory for Pediatric Disorders, 3rd edition. Grey House Publishing, Lakeville, Connecticut, 2004.

Weeks, B. and Friedman AH. Training Pediatric Residents to Evaluate Congenital Heart Disease in the Current Era. Pediatric Clinics of North America: From Fetus to Young Adult: Contemporary Topics in Pediatric Cardiovascular Disease. Pediatr Clin North Am. 2004 Dec;51(6):1641-51.

Kuhn B, Shapiro E, Friedman A. Predictors of Outcome in Children with Acute Myocarditis. Pediatric Cardiology, vol 25 (4):379-384, 2004.

George A. Porter, Jr., M.D., Ph.D.
Dr. Porter's major focus is on the effects of altered intracellular calcium signaling on early heart development. Using novel whole-embryo and organ cultures, his lab has shown that decreased intracellular calcium levels in the developing heart leads to abnormal development of the cardiac outflow tract. More recent evidence suggests that a defined population of cardiac precursor cells may be particularly sensitive to altered calcium. He is currently investigating the function of these cells which make up the "anterior heart field" and which contribute to the developing outflow tract. In relation to these studies, he is also studying the expression calcium-regulatory proteins in the developing heart.

In addition, Dr. Porter is examining the origins of Fetal Alcohol Syndrome-associated congenital heart disease using in vivo and in vitro models of cardiac development. These studies focus on the effects of ethanol on gene expression that may lead to abnormal structural development of the heart.

Last, Dr. Porter's lab has an interest in small animal fetal ultrasound imaging, in particular the use of high-frequency ultrasound to examine cardiac structure and function in the mouse embryo and fetus.

Porter GA, Rivkees SA. The ontogeny of humoral heart rate regulation in the embryonic mouse. 2001. Amer J.Physiol. 281:R401-407.

Porter GA, Makuck RF, Rivkees SA. Reduction in intracellular calcium levels inhibit myoblast differentiation. 2002. J Biol Chem., 277: 28942-28947

Rentschler S, Zander J, Meyers K, France D, Levine R, Porter G, Rivkees SA, Morley G, Fishman, GI. Neuregulin-1 promotes formation of the murine cardiac conduction system. 2002. Proc Natl Acad Sci U S A. 99: 10464-10469.

Porter GA, Makuck RF, Rivkees SA. Intracellular calcium plays an essential role in cardiac development. 2003. Dev. Dyn. 227: 280-290.

Lakhani SA, Masud A, Kuida K, Porter GA, Booth CJ, Mehal WZ, Inayat I, Flavell RA Caspases 3 and 7: Key Mediators of Mitochondrial Events of Apoptosis. 2005. Science. In revision.

Bevin Weeks, M.D.
Dr. Weeks' research interests are in the application of existing and emerging non-invasive imaging modalities to the management of patients with congenital heart disease and investigating outcomes in patients undergoing surgical intervention for congenital heart disease. She has also undertaken an extensive review of Dr. Ruth Whittemore's files from the early days of Yale Pediatric Cardiology to examine inheritance patterns of congenital heart disease in affected families.

James DK, Spencer CJ, Weeks B. Fetal learning: a prospective randomized controlled study. Ultrasound in Obstetrics and Gynecology. 2002 November; 20(5):431-8.

Weeks B, Friedman AH. Training pediatric residents to evaluate congenital heart disease in the current era. Pediatric Clinics of North America. 2004 December; 51(6):1641-51.

Nicole K. Boramanand, C.P.N.P.
Nicole's primary areas of interest are the diagnosis and management of heart failure in the adult patient with congenital heart disease and the development of clinical programs to serve the needs of patients with complex and chronic childhood illnesses.

Perry JC, Boramanand N. Long term management of children with rhythm disturbances. In Dewitt T & Osborn L (eds). Comprehensive Pediatrics. Harcourt Publishing. 2005. (Textbook Chapter)

Boramanand NK, Goya G, Bichell DP, Perry JC. Atrial leads in the postoperative congenital heart patient: Long term benefits of a transmural approach. Submitted to North American Society for Pacing and Electrophysiology, May 2004, San Francisco, California. (Abstract Presentation)

Nancy Rollinson, A.P.R.N.

Rollinson NL. Understanding and managing neurally mediated syncope in the adolescent. J Sch Nurs 2005;21:200-7.

Kopf GS, Mello DM, Kenney KM, Moltedo J, Rollinson NR, Snyder CS. Intraoperative radiofrequency ablation of the atrium: effectiveness for treatment of supraventricular tachycardia in congenital heart surgery. Ann Thor Surg 2002;74:797-804.