Eponymous cardiovascular abnormalities- Imaging review and historical perspectives Poster No.: C-2567 Congress: ECR 2015 Type: Educational Exhibit Authors: Y. Ahmed, P. Rajiah; Cleveland, Ohio/US Keywords: Congenital, Diagnostic procedure, MR, CT, Cardiovascular system, Cardiac DOI: 10.1594/ecr2015/C-2567 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. www.myesr.org Page 1 of 15
Learning objectives ±To describe eponymous cardiovascular abnormalities ±To demonstrate cross sectional imaging appearances of these anomalies ±To describe the biography and history of the physicians involved in these anomalies. Background ±There are several eponymous cardiovascular abnormalities ±This involves the name of pioneering physicians ±The story behind these abnormalities is fascinating ±Knowledge of these disease processes is essential for proper diagnosis Findings and procedure details Tetralogy of Fallot: 1) Pulmonary infundibular stenosis 2) Right ventricular hypertrophy 3) Overriding aorta 4) Ventricular septal defect Ebstein anomaly: 1) Apical displacement of the tricuspid leaflet, > 8mm/m2 BSA 2) Septal > posterior > anterior leaflets 3) Adeherence of septal, posterior leaflets to myocardium 4) Dilation of atrialized portion of RV, with wall thinning 5) Redundancy, fenestrations, tethering og anterior leaflet Page 2 of 15
6) Dilated right AV junction Barlow's Syndrome: 1) Mitral valve prolapse syndrome 2) Posterior prostrusion of mitral leaflet into left atrium during systole. 3) Complications include mitral regurgitation, infective endocarditis and sudden cardiac death. Holmes heart: 1) Abscence of the sinus of the morphologically right ventricle 2) Unpaired morphologically left ventricle 3) Double inlet left ventricle 4) Normal great arteries with pulmonary artery arising from infundibular outlet chamber (IOC). Lutembacher's syndrome: 1) Combination of congenital ASD with acquired mitral stenosis 2) Symptoms and signs vary according to size of atrial septal defect Uhl's anomaly: 1) Isolated right ventricular enlargement with partial or total loss of myocardium, apposition of epi and endocardium with no adipose tissue in between. 2) Normal musculature of septal wall and tricuspid papillary muscles. 3) Presents with CHF > arrythmia or heart block 4) No evidence of inflammation of necrosis Taussig-Bing anomaly: Page 3 of 15
1) Aorta originating from RV 2) Pulmonary artery in normal position and lies side by side with aorta 3) Muscular septum between PA and aorta 4) Subpulmonic VSD Gerbode defect: 1) True/direct left-ventricular-to-right-atrial communication is the classic definition of Gerbode defect. 2) Blood flows through the small membranous area of the ventricular septum, above Tricuspid valve, where there's potential for an LV-RA shunt. 3) Indirect communication occurrs through a VSD in addition to a Tricuspid valve defect. Shone's complex: 1) Parachute mitral valve: unifocal attachment of chordae tendenae 2) Supravalvular ring 3) Coarctation of aorta 4) Subaortic obstruction Libman-Sack endocarditis: 1) Verrucous aseptic vegetations on endocardial surfaces 2) Leaflet thickening 3) Valvular regurgitation > stenosis 4) More common on the left side Danon disease: 1) Hypertrophic/dilated cardiomyopathy Page 4 of 15
2) Associated with Wolf-Parkinson-White syndrome 3) Skeletal myopathy 4) Mental retardation 5) Males more severely affected than females Yamaguchi disease: 1) Left ventricular apical hypertrophic cardiomyopathy 2) 10-25% of HCM in Japan and 1-2% of HCM in Caucasians 3) Ace of spade configuration of LV cavity at end-diastole on MRI 4) With or without t-wave negativity Takayasu's arteritis: 1) Granulomatous inflammation of the aorta and its major branches 2) Weak pulse in upper extremities 3) Affects females of child bearing age, more commonly of Asian descent 4) Cardiac involvement includes: Myocarditis, aortic regurgitation Kawasaki disease: 1) Acute febrile vasculitis 2) Asian male children < 5 y are more commonly affected 3) Occurrs in outbreak 4) Cardiac involvement in 1 out of 5 patients, includes; coronary artery, aneurysm formation and pancarditis. Kommerell's diverticulum: Page 5 of 15
1) Bulbuous configuration of the origin of an aberrant left subclavian artery in the setting of a right sided aortic arch 2) Originally described as a diverticular out pouching at the origin of an aberrant right subclavian artery with a left side aortic arch 3) May present with esophageal and/or tracheal obstruction Fabry disease: 1) X-linked lysosomal storage disorder 2) Cardiac involvement could be the sole manifestation, includes; 3) LV wall thickening w/o significant cavity dilation, concentric LV hypertrophy, papillary muscle hypertrophy, systolic anterior motion (SAM), left ventricular outflow obstruction, valvular regurgitations, A-V conduction anomalies. 4) Can mimic HOCM Images for this section: Fig. 1: Ventricular septal defect (arrow), overriding aorta Page 6 of 15
Fig. 2: Apical displacement of septal tricuspid leaflet Severe tricuspid regurgitation Fig. 3: Prolapse of the posterior mitral leaflet (arrow) Anterior jet of mitral regurgitation Page 7 of 15
Fig. 4: Unpaired left ventricle Fig. 5: ASD (red arrow) and mitral stenosis (yellow arrow) Page 8 of 15
Fig. 6: Near total absence of RV myocardium in Uhl's Fig. 7: Aorta originating from RV Pulmonary artery in normal position and lies side by side with aorta Muscular septum between PA and aorta Subpulmonic VSD Page 9 of 15
Fig. 8: A defect connecting left ventricle (LV) and right atrium(ra) Fig. 9: Parachute mitral valve (red arrow) and coarctation (yellow arrow) in a patient with Shones complex Page 10 of 15
Fig. 10: Aseptic vegetation in the tricuspid valve Fig. 11: Image on the left: Concentric thickening in a patient with Danon disease Image on the right: Patchy midmyocardial enhancement in same patient Page 11 of 15
Fig. 12: Image on the left: Thickening of the apical LV segments in apical hypertrophic cardiomyopathy Image on the right: Patchy enhancement of the apical segments indicating interstitial fibrosis Fig. 13: Wall thickening and edema of the thoracoabdominal aorta in a patient with Takayasu arteritis Page 12 of 15
Fig. 14: Aneurysmal right coronary artery with thrombosis in Kawasaki disease Fig. 15: Komerell diverticulum in patient with right aortic arch and aberrant left subclavian artery Page 13 of 15
Fig. 16: Concentric LV thickening and patchy midmyocardial enhancement in basal inferolateral wall in a patient with Fabry's disease Page 14 of 15
Conclusion ±There are several eponymous cardiovascular abnormalities ±Knowledge of these abnormalities is essential to make a proper diagnosis. Personal information Yasmine Ahmed, MD, Research Fellow University Hospitals, Case Medical Center Cleveland, Ohio yasmine.ahmed@uhhospitals.org Prabhakar Rajiah, MD, Assistant Professor University Hospitals, Case Medical Center Cleveland Ohio prabhakar.rajiah@uhhospitals.org References Whonamedit.com Page 15 of 15