Research Topics
Genomes and Genes | Daniel P JudgeSummaryAffiliation: Johns Hopkins University Country: USA Publications
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Publications
Use of genetics in the clinical evaluation and management of heart failureDaniel P Judge
Center for Inherited Heart Disease, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Ross 1049, Baltimore, MD, 21205, USA
Curr Treat Options Cardiovasc Med 12:566-77. 2010..Because of its complexity and the rapid rate of change in available genetic testing options, the genetic evaluation of heart failure is best suited to tertiary referral centers with specific expertise in this area...
Pathophysiology and therapy of cardiac dysfunction in Duchenne muscular dystrophyDaniel P Judge
Division of Cardiology Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Am J Cardiovasc Drugs 11:287-94. 2011..This article focuses on mechanisms of cardiac dysfunction, as well as potential targets for pharmacologic manipulation to prevent or improve cardiomyopathy in DMD...- Mitral valve disease in Marfan syndrome and related disordersDaniel P Judge
Division of Cardiology, Johns Hopkins University, Ross 1049 720 Rutland Avenue, Baltimore, MD 21205, USA
J Cardiovasc Transl Res 4:741-7. 2011.... - Genetic evaluation of familial cardiomyopathyDaniel P Judge
Division of Cardiology, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Ross 1049, Baltimore, MD 21205, USA
J Cardiovasc Transl Res 1:144-54. 2008..This review will focus on inherited forms of cardiomyopathy, detailing the currently available genetic tests, as well as benefits, limitations, and possible outcomes of such testing... - Use of genetics in the clinical evaluation of cardiomyopathyDaniel P Judge
Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
JAMA 302:2471-6. 2009..With or without genetic testing, screening of family members who are at risk for an inherited form of cardiomyopathy leads to earlier identification, earlier treatment, and improved outcomes... 
Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonismJennifer P Habashi
Howard Hughes Medical Institute and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Science 332:361-5. 2011..These data highlight the protective nature of AT2 signaling and potentially inform the choice of therapies in MFS and related disorders...- Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathyBoon Yew Tan
Department of Medicine Cardiology, Johns Hopkins University School of Medicine, Rutland Avenue, Baltimore, MD 21205, USA
J Cardiovasc Transl Res 3:663-73. 2010..027). The presence of these variants did not associate with the age of onset of ARVD/C or ventricular tachycardia. These findings highlight the complex interplay of environmental and genetic factors contributing to this condition... - Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2Mark M Awad
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Hum Mutat 27:1157. 2006..The possibility of cryptic or alternative splicing should be considered with identification of apparently synonymous nucleotide substitutions in this gene... - Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathyDarshan Dalal
Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
J Am Coll Cardiol 48:1416-24. 2006.... - Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic statesRonald D Cohn
McKusick Nathans Institute of Genetic Medicine, Baltimore, Maryland 21205, USA
Nat Med 13:204-10. 2007..Moreover, we show TGF-beta-induced failure of muscle regeneration and a similar therapeutic response in a dystrophin-deficient mouse model of Duchenne muscular dystrophy... - Outcomes of catheter ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia/cardiomyopathyBinu Philips
Division of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Baltimore, MD 21287, USA
Circ Arrhythm Electrophysiol 5:499-505. 2012..The overall objective of the present study was to assess the efficacy of radiofrequency catheter ablation (RFA) of VT in ARVD/C, with particular focus on newer ablation strategies, including epicardial catheter ablation... - Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome miceTammy M Holm
Howard Hughes Medical Institute and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Science 332:358-61. 2011..Thus, noncanonical (Smad-independent) TGFβ signaling is a prominent driver of aortic disease in MFS mice, and inhibition of the ERK1/2 or JNK1 pathways is a potential therapeutic strategy for the disease... - The variable natural history of idiopathic dilated cardiomyopathyKapil Parakh
Department of Medicine, Johns Hopkins Bayview Medical Center, Baltimore, MD, USA
Isr Med Assoc J 14:666-71. 2012..The relative value of traditional prognostic criteria remains unclear and the assessment of long-term prognosis for individual patients is problematic... - Reader- and instrument-dependent variability in the electrocardiographic assessment of arrhythmogenic right ventricular dysplasia/cardiomyopathyRahul Jain
Department of Medicine Cardiology, Johns Hopkins University, Baltimore, Maryland, USA
J Cardiovasc Electrophysiol 22:561-8. 2011..This study was aimed at examining the variability in the ECG interpretation resulting from the same reader, different readers, and using different ECG-resolutions... - Morphologic variants of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy a genetics-magnetic resonance imaging correlation studyDarshan Dalal
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
J Am Coll Cardiol 53:1289-99. 2009.... - Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathyA Dénise den Haan
Department of Medicine Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Circ Cardiovasc Genet 2:428-35. 2009..We report comprehensive desmosome genetic analysis for 100 North Americans with clinically confirmed or suspected ARVD/C... - Prolonged RV endocardial activation duration: a novel marker of arrhythmogenic right ventricular dysplasia/cardiomyopathyHarikrishna Tandri
Division of Cardiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Heart Rhythm 6:769-75. 2009..Parietal block, defined as intra right ventricular (RV) conduction slowing, is a major diagnostic criterion for arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)... - Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndromeJennifer P Habashi
Howard Hughes Medical Institute and Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Science 312:117-21. 2006.... - Angiotensin II blockade and aortic-root dilation in Marfan's syndromeBenjamin S Brooke
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
N Engl J Med 358:2787-95. 2008..We evaluated the clinical response to ARBs in pediatric patients with Marfan's syndrome who had severe aortic-root enlargement... - The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonanceRadwa A Noureldin
Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, MD, USA
J Cardiovasc Magn Reson 14:17. 2012..It is likely that integrating genetic advances with enhanced phenotypic characterization of HCM with novel CMR techniques will importantly improve our understanding of this complex disease... - TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndromeConnie M Ng
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
J Clin Invest 114:1586-92. 2004.... - Long-term efficacy of catheter ablation of ventricular tachycardia in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathyDarshan Dalal
Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
J Am Coll Cardiol 50:432-40. 2007..Particular focus was placed on defining the single-procedure efficacy over long-term follow-up... - The benefit of upgrading chronically right ventricle-paced heart failure patients to resynchronization therapy demonstrated by strain rate imagingZayd A Eldadah
Division of Cardiology, Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Heart Rhythm 3:435-42. 2006..RV pacing induces conduction delay (CD), mechanical dyssynchrony, and increased morbidity in patients with HF. CRT improves HF symptoms and survival, but sparse data exist on its direct effect on chronically RV-paced HF patients... - The change in B-type natriuretic peptide levels over time predicts significant rejection in cardiac transplant recipientsMichelle M Kittleson
Department of Medicine, Division of Cardiology, University of California at Los Angeles, Los Angeles, California, USA
J Heart Lung Transplant 28:704-9. 2009.... - Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathyMark M Awad
Johns Hopkins University School of Medicine and Johns Hopkins University Cellular and Molecular Medicine Program, Baltimore, MD, USA
Nat Clin Pract Cardiovasc Med 5:258-67. 2008.... - Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndromeDaniel P Judge
Division of Cardiology, Johns Hopkins University, Baltimore, Maryland 21205, USA
J Clin Invest 114:172-81. 2004..In keeping with this model, introduction of a WT FBN1 transgene on a heterozygous C1039G background rescues aortic phenotype... - Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing implantable cardioverter-defibrillator implantation for primary preventionAditya Bhonsale
Division of Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
J Am Coll Cardiol 58:1485-96. 2011.... - DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathyMark M Awad
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Hum Genet 79:136-42. 2006..We report that mutations in DSG2 contribute to the development of ARVD/C... - Extensive cardiac allograft vasculitis and concurrent fat necrosis 6 years after orthotopic heart transplantationJonathan D Cuda
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, Maryland 21205, USA
J Heart Lung Transplant 26:1212-6. 2007..The presence of the M2 macrophage phenotype supports transplant vasculitis as part of the chronic transplant vasculopathy continuum... - Therapy of Marfan syndromeDaniel P Judge
Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Annu Rev Med 59:43-59. 2008..These results highlight the potential for development of targeted therapies based on discovery of disease genes and interrogation of pathogenesis in murine models... - Use of a coronary sinus lead and biventricular ICD to correct a sensing abnormality in a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathyKenneth C Bilchick
Division of Cardiology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
J Cardiovasc Electrophysiol 17:317-20. 2006..We discuss how the use of a bipolar coronary sinus lead and a biventricular ICD generator with a novel header configuration solved the problem... - A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndromeBrittney Murray
Division of Cardiology, Johns Hopkins University, Baltimore, Maryland, USA
Am J Med Genet A 161:371-6. 2013..Finally, it suggests that individuals with unexplained cardiomyopathy and dysmorphic facial features may benefit from CMA analysis... - Intracardiac giant cells after left ventricular assist device placementHubert Fenton
Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA
J Heart Lung Transplant 26:417-20. 2007..An awareness of this entity is important to avoid making a diagnosis of a more severe giant cell-related pathologic disease, which may recur in a transplanted heart... - Marfan's syndromeDaniel P Judge
Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Lancet 366:1965-76. 2005..Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype... - Prospective evaluation of the morbidity and mortality of wild-type and V122I mutant transthyretin amyloid cardiomyopathy: the Transthyretin Amyloidosis Cardiac Study (TRACS)Frederick L Ruberg
Amyloid Treatment and Research Program, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA
Am Heart J 164:222-228.e1. 2012..Prospective data are lacking in the most common TTR mutation, V122I, present in approximately 3.5% of African Americans... - A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2Bart L Loeys
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Nat Genet 37:275-81. 2005.... - Short-term effects of right-left heart sequential cardiac resynchronization in patients with heart failure, chronic atrial fibrillation, and atrioventricular nodal blockIlan Hay
Division of Cardiology, Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA
Circulation 110:3404-10. 2004..Sequential RV-LV stimulation offers minimal benefit on average and should perhaps be considered only in targeted subsets such as nonresponding patients... - Reversible cardiomyopathy caused by administration of interferon alphaAarif Y Khakoo
Division of Cardiology, Johns Hopkins University, Baltimore, MD 21287, USA
Nat Clin Pract Cardiovasc Med 2:53-7. 2005..DIAGNOSIS: Interferon alpha-2b-induced cardiomyopathy. MANAGEMENT: Intravenous dobutamine and dopamine for cardiogenic shock and discontinuation of interferon alpha-2b... - Current treatment of adult Duchenne muscular dystrophyKathryn R Wagner
Department of Neurology, The Johns Hopkins School of Medicine, Meyer 5 119, 600 N Wolfe St, Baltimore, MD 21287, USA
Biochim Biophys Acta 1772:229-37. 2007..Current and future therapies directed at prolonging the lifespan of those with DMD will result in further increases in this adult population with special needs and concerns. These needs are best addressed in a multidisciplinary clinic... - KLOTHO allele status and the risk of early-onset occult coronary artery diseaseDan E Arking
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Hum Genet 72:1154-61. 2003..Modifiable risk factors, including hypertension, smoking status, and HDL-C level, appear to influence the risk imposed by this allele... - Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2Darshan Dalal
Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Circulation 113:1641-9. 2006..The purpose of our study was to validate the frequency of PKP2 mutations in another large series of ARVD/C patients and to examine the phenotypic characteristics associated with PKP2 mutations... - Arrhythmogenic right ventricular dysplasia: a United States experienceDarshan Dalal
Division of Cardiology, The Johns Hopins University School of Medicine, Baltimore, MD, USA
Circulation 112:3823-32. 2005..Diagnosis is often delayed. Once diagnosed and treated with an ICD, mortality is low. There is a wide variation in presentation and course of ARVD patients, which can likely be explained by the genetic heterogeneity of the disease... - Conductance catheter-based assessment of arterial input impedance, arterial function, and ventricular-vascular interaction in micePatrick Segers
Hydraulics Laboratory, Institute Biomedical Technology, Ghent University, Gent, Belgium
Am J Physiol Heart Circ Physiol 288:H1157-64. 2005..We obtained an anticipated response of Z(in) and arterial function parameters following VCO and AOO, demonstrating the sensitivity of the measuring technique to induced physiological alterations in murine hemodynamics...
Research Grants
- Pathogenesis and Therapy of Marfan Vascular DiseaseDaniel Judge; Fiscal Year: 2007..Dr. Judge's training will be based in the School of Public Health at Johns Hopkins, and he will be advised by a committee of experts to create a fruitful environment for the development of an independent clinical scientist. ..
- Genetic Investigation of Arrhythmogenic Right Ventricular DysplasiaDaniel Judge; Fiscal Year: 2007..A more efficient type of genetic analysis will be tested. This will lead to better understanding of genetic susceptibility to sudden death from heart disease. ..