Jay S. Meisner

Bio: Jay S. Meisner is an academic researcher from Jacobi Medical Center. The author has contributed to research in topics: Cardiac magnetic resonance imaging & Dilated cardiomyopathy. The author has an hindex of 1, co-authored 2 publications receiving 373 citations.

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

Abstract: Background Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable involvement of hepatic, muscular, neurologic, dermatologic, and cardiac systems. Cardiomyopathy seen in GSD IV is also heterogeneous and its appearance on cardiac magnetic resonance imaging (CMR) is rarely described. Case summary A 29-year-old man without previous medical history was admitted to our facility multiple times over 2 years for focal sensorimotor deficits, gout arthropathy, chronic hyperlactataemia and hyperuricaemia, and severe decompensated non-ischaemic cardiomyopathy complicated by episodes of thromboembolic organ infarction. Echocardiography and CMR showed severe biventricular failure with the presence of intraventricular thrombi with increased right ventricular trabeculation and absent late gadolinium enhancement. He underwent muscle biopsy which showed prominent glycogen in skeletal muscle followed by genetic testing showing a single heterozygous splicing mutation c.993-1G>T found at the junction of intron 7 and exon 8 of the GBE1 gene which had not previously been reported and was predicted to be pathologic. He was referred to a tertiary care centre with glycogen storage disease specialists but expired prior to establishing care at that facility. Discussion Discovery of GSD IV in our patient was unexpected due to a highly variant clinical presentation. Our case stresses the clinical heterogeneity of GSD IV and the importance of genetic sequencing studies in the evaluation of potential glycogen storage disease.

2009 Focused Update Incorporated Into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: Developed in Collaboration With the International Society for Heart and Lung Transplantation

Abstract: Mariell Jessup, MD, FACC, FAHA, Chair [*][1] William T. Abraham, MD, FACC, FAHA[†][2] Donald E. Casey, MD, MPH, MBA[‡][3] Arthur M. Feldman, MD, PhD, FACC, FAHA[§][4] Gary S. Francis, MD, FACC, FAHA[§][4] Theodore G. Ganiats, MD[∥][5] Marvin A. Konstam, MD, FACC[¶][6] Donna M.

How to diagnose diastolic heart failure: a consensus statement on the diagnosis of heart failure with normal left ventricular ejection fraction by the Heart Failure and Echocardiography Associations of the European Society of Cardiology

Abstract: Diastolic heart failure (DHF) currently accounts for more than 50% of all heart failure patients. DHF is also referred to as heart failure with normal left ventricular (LV) ejection fraction (HFNEF) to indicate that HFNEF could be a precursor of heart failure with reduced LVEF. Because of improved cardiac imaging and because of widespread clinical use of plasma levels of natriuretic peptides, diagnostic criteria for HFNEF needed to be updated. The diagnosis of HFNEF requires the following conditions to be satisfied: (i) signs or symptoms of heart failure; (ii) normal or mildly abnormal systolic LV function; (iii) evidence of diastolic LV dysfunction. Normal or mildly abnormal systolic LV function implies both an LVEF > 50% and an LV end-diastolic volume index (LVEDVI) 16 mmHg or mean pulmonary capillary wedge pressure >12 mmHg) or non-invasively by tissue Doppler (TD) (E/E' > 15). If TD yields an E/E' ratio suggestive of diastolic LV dysfunction (15 > E/E' > 8), additional non-invasive investigations are required for diagnostic evidence of diastolic LV dysfunction. These can consist of blood flow Doppler of mitral valve or pulmonary veins, echo measures of LV mass index or left atrial volume index, electrocardiographic evidence of atrial fibrillation, or plasma levels of natriuretic peptides. If plasma levels of natriuretic peptides are elevated, diagnostic evidence of diastolic LV dysfunction also requires additional non-invasive investigations such as TD, blood flow Doppler of mitral valve or pulmonary veins, echo measures of LV mass index or left atrial volume index, or electrocardiographic evidence of atrial fibrillation. A similar strategy with focus on a high negative predictive value of successive investigations is proposed for the exclusion of HFNEF in patients with breathlessness and no signs of congestion. The updated strategies for the diagnosis and exclusion of HFNEF are useful not only for individual patient management but also for patient recruitment in future clinical trials exploring therapies for HFNEF.

2009 Focused Update: ACCF/AHA Guidelines for the Diagnosis and Management of Heart Failure in Adults

Abstract: 2009;53;1343-1382; originally published online Mar 26, 2009; J. Am. Coll. Cardiol. Rahko, Marc A. Silver, Lynne Warner Stevenson, and Clyde W. Yancy Francis, Theodore G. Ganiats, Marvin A. Konstam, Donna M. Mancini, Peter S. Mariell Jessup, William T. Abraham, Donald E. Casey, Arthur M. Feldman, Gary S. Heart and Lung Transplantation Developed in Collaboration With the International Society for Guidelines Cardiology Foundation/American Heart Association Task Force on Practice Management of Heart Failure in Adults: A Report of the American College of 2009 Focused Update: ACCF/AHA Guidelines for the Diagnosis and This information is current as of August 30, 2010 http://content.onlinejacc.org/cgi/content/full/53/15/1343 located on the World Wide Web at: The online version of this article, along with updated information and services, is

Exercise Hemodynamics Enhance Diagnosis of Early Heart Failure with Preserved Ejection Fraction

Abstract: Background—When advanced, heart failure with preserved ejection fraction (HFpEF) is readily apparent. However, diagnosis of earlier disease may be challenging because exertional dyspnea is not specific for heart failure, and biomarkers and hemodynamic indicators of volume overload may be absent at rest. Methods and Results—Patients with exertional dyspnea and ejection fraction >50% were referred for hemodynamic catheterization. Those with no significant coronary disease, normal brain natriuretic peptide assay, and normal resting hemodynamics (mean pulmonary artery pressure <25 mm Hg and pulmonary capillary wedge pressure [PCWP] <15 mm Hg) (n=55) underwent exercise study. The exercise PCWP was used to classify patients as having HFpEF (PCWP ≥25 mm Hg) (n=32) or noncardiac dyspnea (PCWP <25 mm Hg) (n=23). At rest, patients with HFpEF had higher resting pulmonary artery pressure and PCWP, although all values fell within normal limits. Exercise-induced elevation in PCWP in HFpEF was confirmed by greater incre...