Vincent E Friedewald Clinical Guide to Cardiovascular Disease 123 Clinical Guide to Cardiovascular Disease Vincent E. Friedewald Clinical Guide to Cardiovascular Disease Vincent E. Friedewald Division of Cardiology UT Health Science Center at Houston Division of Cardiology Houston, Texas, USA ISBN 978-1-4471-7291-8    ISBN 978-1-4471-7293-2 (eBook) DOI 10.1007/978-1-4471-7293-2 Library of Congress Control Number: 2016960003 © Springer-Verlag London 2016 This work is subject to copyright All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed The use of general descriptive names, registered names, trademarks, service marks, etc in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer-Verlag London Ltd The registered company address is: 236 Gray’s Inn Road, London WC1X 8HB, United Kingdom To our patients – our best teachers, when we listen Preface The Clinical Guide to Cardiovascular Disease culminates over 70 years of disease data collection, begun by my father, Vincent E. Friedewald, Sr M.D., when he was awarded patent rights for the first medical computer – a mechanical index card-sorting machine – for differential diagnosis and other elements of medical decision support (Figs. 1 and 2) Today these data reside within the largest medical relational database in the world,1 comprising a unified lexicon of thousands of confirmed clinical manifestations of human disease This massive collection of information is the foundation for the Clinical Guide to Cardiovascular Disease and the preceding Clinical Guide to Bioweapons and Chemical Agents (Friedewald VE, Springer-Verlag, 2006) Unlike traditional books, the Clinical Guide is specifically designed for rapid access to disease information, segregated into keyword data elements organized under 20 separate headings relevant to clinical care In addition, external links are provided for supplemental and updated information The bulk of content in the Clinical Guide is focused on information essential to correct disease diagnosis, for good reason According to the Institute of Medicine (IOM),2 “diagnosis—and, in particular, the occurrence of diagnostic errors— has been largely unappreciated in efforts to improve the quality and safety of health care The result of this inattention  COR Medical Technologies, Inc https://www.cormedicaltechnologies com/landing.aspx   National Academies of Sciences, Engineering, and Medicine Improving diagnosis in health care Washington: The National Academies Press; 2015 vii viii Preface is significant: The committee concluded that most people will experience at least one diagnostic error in their lifetime, ­sometimes with devastating consequences.” The IOM report further points out that: • Five percent of adults in the USA seeking outpatient care experience a diagnostic error • Diagnostic errors contribute to 10 % of deaths • 6–17 % of adverse hospital events are due to diagnostic errors • Diagnostic errors are the leading cause of malpractice claims in the USA The Clinical Guide directly addresses the challenges of diagnostic accuracy with eight sections of information relevant to diagnosis in every disease chapter: • • • • • • • • Signs and Symptoms Predisposing/Comorbid Conditions Differential Diagnosis ECG Genomics Imaging Laboratory Other Tests While the main emphasis of the Clinical Guide content is on diagnosis, treatment is presented in a more generic form The reasons for this less-granular information about treatment are threefold: Treatment recommendations are extremely dynamic, constantly changing as new outcome studies for current treatments are completed and as new modalities emerge, thereby greatly reducing the shelf life of treatment information Treatment is more and more being personalized according to individual patient preferences, circumstances, comorbidities, and other factors, all of which cannot be accommodated in one book Preface ix Treatment recommendations are exquisitely defined and openly accessed in major Guidelines – especially those written by the American College of Cardiology/American Heart Association and by the European Society of Cardiology; they are linked to each disease in the Clinical Guide when they exist and are relatively current In addition to diagnostic and treatment information, other information that is often important to patient management is included in separate sections, such as demographics, pathophysiology, and clinical course The style of the Clinical Guide is designed for easy use on mobile devices, as well for rapid access in its print form This design includes extensive use of abbreviations, keywords, short phrases, and external links to both professional and patient information All of the content in the Clinical Guide was made possible by thousands of researchers worldwide via their contributions to the many excellent cardiovascular and general medical journals we are fortunate to have at our disposal To them, I offer my deepest thanks, and an apology: because this book is so content-rich, it would take a second book just to accommodate standard referencing, and even then many of these primary authors would likely be slighted Thus, I have chosen to list only a relatively few, select articles in the section Professional Information, along with their links, that I encourage readers to access for additional information I acknowledge and thank the many authors of major Guidelines, especially Guidelines written by the American College of Cardiology and American Heart Association, and by the European Society of Cardiology Such Guidelines are remarkable documents – in my opinion, far too underutilized by practitioners – and a rich source of information for this book In places, I have gone so far as to extract exact language from Guidelines, with the source specified I thank some of the many persons who assisted in compiling the Clinical Guide information, especially Doctor Patrick Finnigan, Mr Ryan Carbone, my daughter Natalie Nieto, and the cardiology Fellows at The Cleveland Clinic, selected for x Preface me by my friend and colleague, Doctor James Young Those Fellows are Doctor Mohammed B. Elshazly, Doctor Samuel Horr, Doctor Manju Pai, Doctor Grant Reed, Doctor Brett Sperry, and Doctor Amanda Vest As further testament to the digital age, I thank Mr John Scott – who does not even pretend to understand a word in this book, nor I have even the most remote notion of what he does – for building the software program that so greatly facilitated writing this book Finally, I offer a great big Texas-size mountain of gratitude to my publisher at Springer-Verlag, Mr Grant Weston, for his patience, which is a vanishing virtue Houston, TX, USA Vincent E. Friedewald MD, FACC, FACP Preface xi Fig 1  United States patent award in 1953 to Vincent E Friedewald, Sr, M.D., for the first medical computer Notes 1303 [4] Young children: face described as “pixie-like”, “cute”, “elfin” [5] Declines after childhood [6] Features of Supravalvular AS [7] With Supravalvular AS, due to Coanda effect: preferential blood flow into right brachiocephalic artery [8] Crescendo-decrescendo; ejection click absent; radiates to right carotid artery [9] Especially lower extremities [10] Mean IQ approximately 55 (sometimes normal) [11] Williams-Beuren syndrome cognitive profile: includes relative strengths in memory/language and weaknesses in spatial/motor skills; strength in facial recognition [12] Usually not major; more often dysthymia [13] >50 % have DM/abnormal glucose metabolism [14] May occur due to coronary ostial stenosis, which can occur in absence of Supravalvular AS [15] Usually mild, but may be moderate-severe elevation in infants/young children; usually resolves in childhood [16] Usually subclinical [17] Relates to hypertension [18] Pathology highly variable and treatment individualized according to associated conditions; life-long supportive care with team approach often necessary [19] Peripheral pulmonary stenosis often resolves spontaneously [20] May be secondary to RAS or occur in its absence, related to NCF1 mutation [21] Cardiovascular disease most common cause of death [22] Due to coronary artery diffuse stenosis, aneurysm, ostial stenosis, AV inflow obstruction, sinotubular ridge, or combinations [23] Valvular AS, MVP, MR; TV involvement rare; Ebstein Anomaly reported [24] Especially VSD, usually muscular [25] 25–100x risk in general population; cause uncertain in many cases [26] 60 % RVH, 40 % LVH 1304 Chapter 98.  Williams Syndrome [ 27] Common, often due to RAS [28] May indicate intracranial stenosis [29] May indicate brachiocephalic stenosis [30] Angioplasty ineffective [31] Periprocedural CV collapse reported in WS patients: particular caution indicated at these times [32] Due to uncertain mechanism in WS, but may also be prolonged by use of CNS drugs for ADHD, anxiety, etc., including but not limited to: phenothiazines, haloperidol, tricyclic antidepressants, astemizole, ketoconazole, itraconazole, probucol, ketanserin, cisapride, papaverine, tacrolimus, arsenic trioxide [33] JT interval rather than QT interval measure may be preferable in presence of prolonged QRS Guidelines ACC/AHA 2008 guidelines for the management of adults with congenital heart disease J Am Coll Cardiol 2008;52:e143–e263 http://content.onlinejacc.org/ article.aspx?articleid=1188032#tab1 ESC guidelines for the management of grown-up congenital heart disease (new version 2010) Eur Heart J. 2010;31:2915–57 http://eurheartj.oxfordjournals.org/ content/ehj/31/23/2915.full.pdf Patient Information Images https://www.nlm.nih.gov/medlineplus/ency/imagepages/17243.htm Medlineplus ENGLISH https://www.nlm.nih.gov/medlineplus/ency/article/001116.htm Guidelines 1305 ESPANOL https://www.nlm.nih.gov/medlineplus/spanish/ency/article/001116 htm Genetics Home REF http://ghr.nlm.nih.gov/condition/williams-syndrome Williams Syndrome ASSN http://williams-syndrome.org/ws Cleveland Clinic http://my.clevelandclinic.org/disorders/genetic-disorders/hic-­ williams-­syndrome.aspx NORD https://rarediseases.org/rare-diseases/williams-syndrome/ Professional Information Review N Engl J Med 2010;362:239–52 full/10.1056/NEJMra0903074 ­http://www.nejm.org/doi/ Review Circulation 2013;127:2125–34 tent/127/21/2125.full http://circ.ahajournals.org/con- 1306 Chapter 98.  Williams Syndrome Acquired Coarctation Heart 1998;80:205–6 full#ref-1 http://heart.bmj.com/content/80/2/205 Adult Course of Supravalvular Aortic Stenosis Eur Heart J. 2012 doi: 10.1093/eurheartj/ehs206 http://eurheartj oxfordjournals.org/content/early/2012/07/19/eurheartj.ehs206 full Cognitive Profile Brain Cogn 2004;44:604–28 http://www.sciencedirect.com/science/ article/pii/S0278262600912326 Cardiovascular Abnormalities Am J Cardiol 2010;105:874–78 http://www.sciencedirect.com/science/article/pii/S0002914909027647 Cardiovascular Abnormalities J Pediatr 2010;156:253–8 ­http://www.sciencedirect.com/science/article/pii/S0022347609008403 Diabetes Mellitus Am J Med Genet C Semin Med Genet 2010;154C:291–8 http:// www.ncbi.nlm.nih.gov/pmc/articles/PMC2882962/ Guidelines 1307 JT Interval Am J Cardiol 2010;106:1029–33 http://www.ncbi.nlm.nih.gov/ pubmed/20854969 Neuropsychiatric Review J Child Psychol Psychiatry 2008;49:576–608 http://onlinelibrary wiley.com/doi/10.1111/j.1469-7610.2008.01887.x/full Updates and More https://clinicalguidecvd.com/williams Chapter 99 Wolff-Parkinson-White Syndrome ICD-10 Code I45.6 Alternate Names/Abbreviation ACCELERATED AV CONDUCTION PRE-EXCITATION AV CONDUCTION PREEXCITATION SYNDROME WPW Description/Etiology Premature excitation of ventricular myocardium by impulse bypass of normal conduction pathway via accessory pathways [6], causing tachyarrhythmias in many affected persons [5] Patients with WPW typically present with palpitations or presyncope caused by an atrioventricular reciprocating tachycardia or, less commonly, a primary atrial tachycardia Persons with ECG preexcitation pattern may be asymptomatic [20] V.E Friedewald, Clinical Guide to Cardiovascular Disease, DOI 10.1007/978-1-4471-7293-2_99, © Springer-Verlag London 2016 1309 1310 Chapter 99.  Wolff-Parkinson-White Syndrome Rapid conduction of AF over an accessory pathway resulting in VF rare but may be first manifestation Accessory pathways thought to be an embryologic remnant Also occurs in patients with myopathic and structural congenital heart disease, particularly Ebstein anomaly Uncommonly, may coexist with cardiac rhabdomyoma, usually discovered in newborns, associated with tumors located at AV groove or septum, and believed caused by disruption of AV annulus electrical integrity rather than being true accessory pathways HCM may be associated with WPW, often associated with specific gene mutations Comorbid Conditions ATRIAL SEPTAL DEFECT - SECUNDUM CARDIOMYOPATHY - DANON DISEASE CARDIOMYOPATHY - DILATED CARDIOMYOPATHY - HYPERTROPHIC COARCTATION OF AORTA EBSTEIN ANOMALY GRAVES DISEASE HYPERTHYROIDISM LEBER HEREDITARY OPTIC NEUROPATHY [7] MITRAL VALVE PROLAPSE POMPE DISEASE PRKAG2 SYNDROME TETRALOGY OF FALLOT TOTAL ANOMALOUS VENOUS RETURN TRANSPOSITION OF GREAT ARTERIES CORRECTED TRICUSPID ATRESIA TUBEROUS SCLEROSIS VENTRICULAR SEPTAL DEFECT Differentiation 1311 Demography All populations Sometimes familial Pathophysiology Antegrade conduction of impulse via accessory pathway, initiating ventricular depolarization (manifest as delta wave on ECG) before arrival of normally conducted impulse Accessory pathways make possible retrograde ventricular-­ atrial impulse conduction and resultant tachyarrhythmias Ventricular septal dyskinesis reported in some persons (reversible with ablation) Majority of WPW cases have normal cardiac anatomy Signs/Symptoms CHEST - PALPITATIONS CONSCIOUSNESS - LOSS, SUDDEN (SYNCOPE) DIZZY/LIGHTHEADED/PRESYNCOPE HEART, RATE - RAPID (TACHYCARDIA) HEART, RHYTHM - IRREG HEART, S1, INTENSITY - INCR HEART, S2, SPLIT - REVERSED (PARADOXICAL) Differentiation AMI Fabry Disease [10] LBBB or RBBB PVT RVH 1312 Chapter 99.  Wolff-Parkinson-White Syndrome Complications Cardiac Arrest Rapid AF SCD [12] VF Laboratory NS ECG [11] DELTA WAVE [2] DYSRHYTHMIAS - ATRIAL (PACS/OTHERS) [5] DYSRHYTHMIAS - VENTRICULAR (PVCS/ OTHERS) PR INTERVAL - SHORT [3] QRS - LONG, NS [4] ST-T WAVE - ABN, NS Imaging NS/VAR WITH COMORBID Genomics PRKAG2 Other Tests Ambulatory ECG monitoring Notes 1313 EP testing [9] Stress test Treatment: Nonpharmacologic NS Treatment: Pharmacologic NS Treatment: Surgical/Invasive [9] Pathway ablation Antitachycardia atrial pacemaker Course Highly variable Notes [1] During tachyarrhythmia [2] Type A: initial positive QRS deflection in V1-2 Type B: initial negative QRS deflection in V1-2 Type C: initial negative QRS deflection in lateral leads [3] 0.10 SEC; configuration dependent on location of bypass tract [5] PSVT; sudden AF may be serious [6] Accessory pathway: an extranodal AV pathway that connects atrial myocardium to ventricle across the AV groove; accessory pathways include AV tracks, nodofas- 1314 Chapter 99.  Wolff-Parkinson-White Syndrome cicular tracts, and many other variations; most common insertion is into left lateral LV free wall [7] Inherited disorder of mitochondria causing subacute blindness, mainly in young men; WPW may also affect maternal carriers without blindness [8] For comorbid cardiac conditions [9] Consult current Guidelines for detailed recommendations of EP testing and treatment for asymptomatic and symptomatic persons with preexcitation findings [10] Short PR in absence of preexcitation characteristic of Fabry Disease; uncertain mechanism [11] Preexcitation ECG pattern: Reflects presence of a manifest accessory pathway connecting the atrium to the ventricle Pre-excited ventricular activation over accessory pathway competes with anterograde conduction over AV node and spreads from accessory pathway insertion point in ventricular myocardium Variable degree of pre-excitation, with characteristic pattern of short P-R interval with slurring of the initial upstroke of the QRS complex (delta wave) may occur, depending on relative contribution from ventricular activation by normal AV nodal/ His Purkinje system versus the manifest accessory pathway Can be intermittent or not easily appreciated with pathways capable of anterograde conduction; usually associated with low-risk pathways, with exceptions [12] Increased risk of SCD in WPW associated with: History of symptomatic tachycardia Multiple accessory pathways Shortest pre-excited R-R interval of