Utility of Cardiac MRI in Diagnosing Fabry’s Cardiomyopathy

Slides:



Advertisements
Similar presentations
‘How I do’ CMR in DCM Dr Sanjay Prasad, Royal Brompton Hospital London, UK. For SCMR August 2006 This presentation is posted for members of scmr as an.
Advertisements

Cardiac Murmurs Lubna Piracha, D.O. Assistant Professor of Medicine Department of Cardiology.
INTRODUCTION BIVENTRICULAR NON-COMPACTION ASSOCIATED WITH ATRIAL AND VENTRICULAR SEPTAL DEFECTS A. ZAROUI, A. FEKI, F. EL AYECH, N. LARBI, MS. MOURALI,
DOMENICO CORRADO, MD, PhD University of Padova, Italy
Primary Myocardial Disease Dr. Raid Jastania. Case.
Heart Failure Whistle Stop Talks No 1 HFrEF and HFpEF Definitions for Diagnosis Susie Bowell BA Hons, RGN Heart Failure Specialist Nurse.
Cardiac Issues in Friedreich’s Ataxia 2 nd Annual Friedreich’s Ataxia Symposium Robert E. Shaddy, MD Jennifer Terker Professor of Pediatrics Division Chief,
Dr. Meg-angela Christi M. Amores
Atrial and Ventricular Enlargement
Investigator Investigator: Sharma Kattel, MBBS Mentor: Mentor: Yuji Saito, MD, PhD, FACP, FACC Department of Internal Medicine Sisters of Charity Hospital.
Ventricular Diastolic Filling and Function
Cardiomyopathy. Cardiomyopathy, which literally means "heart muscle disease", is the deterioration of the function of the myocardium (i.e., the actual.
In the Name of Allah the Most Beneficent and Merciful C ardiomyopathies Prof. Dr. Muhammad Akbar Chaudhry M.R.C.P.( UK ), F.R.C.P.( E ) F.R.C.P. ( LONDON.
INTRODUCTION  Chronic constrictrive pericarditis (CCP) and Restrictive cardiomyopathy (RCM) share several clinical, ultrasonographic and hemodynamic.
LEARNING OBJECTIVES Consider nonischemic causes of ventricular arrhythmia Add cardiac sarcoid to your differential diagnosis for ventricular arrhythmia.
Introduction BACKGROUND  N on-sustained VT (NSVT) is a known risk factor for poor outcomes in adults with HCM and diastolic dysfunction is linked to poor.
Serviço de Cardiologia Hospital de Santa Maria Centro Hospitalar Lisboa Norte Subclinical focal fibrosis and abnormal strain in patients with sarcoidosis.
Date of download: 5/27/2016 Copyright © The American College of Cardiology. All rights reserved. From: Frequency and Phenotypes of Familial Dilated Cardiomyopathy.
Myocarditis and cardiomyopathies Noncoronary myocardial diseases.
Cardiac Pathology 3: Valvular Heart Disease, Cardiomyopathies and Other Stuff Kristine Krafts, M.D.
Date of download: 6/3/2016 Copyright © The American College of Cardiology. All rights reserved. From: Pregnancy in Patients With Pre-Existing Cardiomyopathies.
Date of download: 6/23/2016 Copyright © The American College of Cardiology. All rights reserved. From: ACCF/SCAI/AATS/AHA/ASE/ASNC/HFSA/HRS/SCCM/SCCT/SCMR/STS.
Date of download: 6/24/2016 Copyright © The American College of Cardiology. All rights reserved. From: Diagnostic Value of CMR in Patients With Biomarker-Positive.
Date of download: 6/25/2016 Copyright © The American College of Cardiology. All rights reserved. From: Defining the Natural History of Uremic Cardiomyopathy.
Date of download: 6/29/2016 Copyright © The American College of Cardiology. All rights reserved. From: Cardiac Imaging and Stress Testing Asymptomatic.
Date of download: 7/5/2016 Copyright © The American College of Cardiology. All rights reserved. From: Cardiac Magnetic Resonance Imaging for the Interventional.
Date of download: 7/7/2016 Copyright © The American College of Cardiology. All rights reserved. From: Toward clinical risk assessment inhypertrophic cardiomyopathy.
Date of download: 7/7/2016 Copyright © The American College of Cardiology. All rights reserved. From: Frequency and clinical expression of cardiac troponin.
Date of download: 9/17/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Association of Fibrosis With Mortality and Sudden.
J Am Coll Cardiol 2007;50:2399–403 Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy Lorenzo Monserrat,
A Case of Elderly Women with Biventricular Hypertrophic Cardiomyopathy
Case No #1 Viability assessment
‘How I do’ CMR in DCM Dr Sanjay Prasad, Royal Brompton Hospital
‘How I do’ CMR in HCM Dr Sanjay Prasad, Royal Brompton Hospital
Edematous syndrome. Differential diagnosis of edema of various etiologies (local - allergic, cardiovascular, inflammatory, general - circulatory insufficiency,
Journal of Nuclear Cardiology | Official Journal of the American Society of Nuclear Cardiology Isolated Cardiac Sarcoidosis: A Focused Review of An.
Acromegalic cardiomyopathy: A case report
Cannabis - A Heartbreaker
Iacopo Olivotto Unit Cardiomiopatie
Gateways to the heart – Incidental CT findings of anomalous systemic venous connections and the clinical challenges they present Hanzhou Li, Christopher.
Cardiac Remodeling in Obesity
Figure 10 Assessment of myocardial fibrosis
HYPERTROPHIC CARDIOMYOPATHY(HCM)
Volume 9, Issue 1, Pages (January 2012)
Figure 1 Cine cardiovascular magnetic resonance (CMR)
Figure 3 T1 mapping and late gadolinium enhancement (LGE)
ΑΣΘΕΝΗΣ ΜΕ ΚΟΙΛΙΑΚΕΣ ΑΡΡΥΘΜΙΕΣ
CR 10: Myocarditis mimicking an acute coronary syndrome
Anomalous Left Coronary Artery in Hypertrophic Cardiomyopathy
When Shortness of Breath Is NOT Asthma
The cardiomyopathy in Friedreich's ataxia — New biomarker for staging cardiac involvement  Frank Weidemann, Dan Liu, Kai Hu, Cristiane Florescu, Markus.
Sudden cardiac death: The role of imaging
Division of Cardiovascular Diseases No relevant author disclosures
Figure 5 Genotype-positive hypertrophic
Figure 2 Apical hypertrophy missed by echocardiography
Echocardiographic Assessment of Left Ventricular Systolic Function: An Overview of Contemporary Techniques, Including Speckle-Tracking Echocardiography 
Isolated Severe Right Ventricular Hypertrophic Cardiomyopathy
Left ventricular (LV) thrombus formation on delayed gadolinium contrast cardiac MRI and transthoracic echocardiography. Left ventricular (LV) thrombus.
Michela Brambatti et al. JACC 2017;70:
Examples of association between CMR features and abnormal Q waves.
Ronan Abgral et al. JIMG 2017;10:
Ingrid Kindermann et al. JACC 2012;59:
Khalid AlHabib Professor of Cardiac Sciences Cardiology Consultant
Canadian Society for Cardiovascular Magnetic Resonance (CanSCMR) Recommendations for Cardiovascular Magnetic Resonance Image Analysis and Reporting 
Cardiac magnetic resonance imaging of the heart in a patient with pulmonary arterial hypertension. a) Short axis image. #: dilated right ventricle; ¶:
Recurrent polymorphic ventricular tachycardia initiated by Purkinje ectopy in a patient with cardiac sarcoidosis  Faisal Matto, MD, Mohsan Chaudhry, MD,
Fig. 7. T1 mapping in dilated cardiomyopathy (DCM)
Apical ‘sparing’ pattern: This is a finding that its helpful in addition to others. Apical ‘sparing’ pattern: This is a finding that its helpful in addition.
Cardiac MRI during the acute phase of the illness.
Illustration of discordance between location of Q waves on ECG derivations and location of LGE in the myocardium on CMR. (A) Incidence of LGE within cited.
Presentation transcript:

Utility of Cardiac MRI in Diagnosing Fabry’s Cardiomyopathy Ankita Tirath1, Arun Nagabandi, MD2, Gyanendra K.Sharma, MD2, Jayanth H. Keshavamurthy3 1Medical College of Georgia at Augusta University, 2Division of Cardiology, 3Department of Radiology and Imaging, Augusta University Medical Center, Augusta, GA Background Results of CMR Conclusions Fabry’s disease is an X-linked lysosomal storage disorder with reported incidence of 1:40,000, caused by deficiency of the enzyme alpha-galactosidase A. This results in accumulation of intracellular globotriaosylceramide in various tissues throughout the body In males, Fabry’s disease is diagnosed by measurement of the activity of the alpha-galactosidase A enzyme in leukocytes or plasma. In female carriers, analysis of the gene for mutations is required Greater than 50% of patients with Fabry’s disease have cardiac manifestations, most commonly concentric left ventricular hypertrophy (LVH), malignant arrhythmias and infiltrative cardiomyopathy The gold standard to demonstrate myocardial fibrosis is late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR) Typically, the basal and mid segments of anterolateral and inferolateral left ventricular walls develop myocardial fibrosis with sparing of the subendocardium Clinical manifestations of Fabry’s disease can be cutaneous, corneal, cardiac, renal, or neurologic. Cardiovascular manifestations include left and right ventricular hypertrophy, aortic and mitral regurgitation, conduction defects, coronary artery disease, and aortic root dilation. The most common pattern of hypertrophy is concentric, with asymmetric septal hypertrophy occurring in only 5% of cases. Hypertrophy is likely due to deposition of glycolipid, hypertrophy of individual myocytes, and interstitial remodeling. Deposition of glycolipid in the electrical conduction pathway of the heart can result in arrhythmias. CMR with LGE involving the basal and mid segments of anterolateral and inferolateral walls with sparing of the subendocardium is diagnostic Fabry disease should be considered in patients with unexplained LVH, because early diagnosis and enzyme replacement can improve the course of disease. Fabry’s should be excluded in patients with diagnosis of hypertrophic cardiomyopathy, as approximately 2-5% of these patients have Fabry’s disease. A Major Teaching Points CMR has specific findings in Fabry’s cardiomyopathy and is diagnostic of the condition. An indirect way to screen for regional myocardial fibrosis is functional strain rate imaging by echocardiography. Early diagnosis and treatment with enzyme replacement can alter the course and slow down overall progression of the disease. B Fig.1 Cardiac MRI - Short axis view – (A) LV with mesocardial fibrosis of inferolateral wall and (B) concentric LVH, characteristic of Fabry’s disease Case Presentation A 52 year old white male presented to the ED with worsening shortness of breath and swelling in his hands for 4 days. He was in moderate respiratory distress and on exam had elevated JVP, crackles in lungs, normal heart sounds, and edema of hands and feet. His labs were significant only for elevated BNP (502 pg/mL) and troponin I (0.149 ng/mL).   Chest x-ray showed pulmonary edema Electrocardiography showed sinus rhythm with no abnormalities Echocardiography showed ejection fraction of 55-60% with a restrictive left ventricular filling pattern Left heart catheterization revealed non-obstructive coronaries Cardiac MRI for further investigation revealed increased myocardial mass, severe concentric LVH, and LGE in a pattern suggestive of Fabry’s cardiomyopathy   Use of CMR in Evaluation of LVH References Fabry’s disease: Approximately half of patients have LGE localized to the mid-myocardial portion of the basal inferolateral wall, with sparing of the subendocardium Hypertrophic Cardiomyopathy (HCM): Heterogeneous patterns, usually involving segments that are most hypertrophied Cardiac Amyloidosis: Approximately 70% with pattern of global subendocardial gadolinium enhancement; often involves both atria and ventricles Cardiac Sarcoidosis: Enhancement at right ventricular septum is very specific; enhancement is typically subepicardial or mid‐myocardial Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Thorac Cardiovasc Surg. 2011;142(6):e153-203. Watanabe E, Kimura F, Nakajima T, et al. Late gadolinium enhancement in cardiac sarcoidosis: characteristic magnetic resonance findings and relationship with left ventricular function. J Thorac Imaging. 2013;28:60–66 De cobelli F, Esposito A, Belloni E, et al. Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol. 2009;192(3):W97-102. Seydelmann N, Wanner C, Störk S, Ertl G, Weidemann F. Fabry disease and the heart. Best Pract Res Clin Endocrinol Metab. 2015;29(2):195-204. Azour L, Jacobi AH, Cham MD. The Heart of the Matter: Cardiac Imaging of Sarcoidosis. Society of Thoracic Radiology (STR), presented March 13‐16, 2016.  Acknowledgements I would like to thank Dr. Sharma, Dr. Nagabandi, and Dr. Keshavamurthy for their support. I would also like to thank the Medical College of Georgia at Augusta University for supporting me in my medical education.