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(BQ) Part 1 book The ESC textbook of cardiovascular medicine presents the following contents: The morphology of the electrocardiogram, cardiac ultrasound, cardiovascular magnetic resonance, cardiovascular computerized tomography, nuclear cardiology, invasive imaging and haemodynamics, clinical pharmacology of cardiovascular drugs,...
The ESC Textbook of Cardiovascular Medicine A JOHN CAMM THOMAS F LÜSCHER PATRICK W SERRUYS www.passfans.com/forum List of Contributors Editors: A John Camm MD FESC FRCP FACC FAHA FCGC Professor of Clinical Cardiology, Chairman of the Division of Cardiac and Vascular Sciences, St George’s University of London, London, UK Thomas F Lüscher MD FRCP Professor and Head of Cardiology, University Hospital, Zurich, Switzerland Patrick W Serruys MD PhD FESC FACC Professor of Medicine and Interventional Cardiology, Head of the Department of Interventional Cardiology, Thoraxcenter, Erasmus Medical Centre, Rotterdam, The Netherlands Bert Andersson MD PhD Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden Annalisa Angelini MD Department of Cardiovascular Pathology, Universita di Padova, Via A Gabelli 61, Padova, Italy Stefan Anker MD PhD Clinical Research Fellow, Department of Cardiac Medicine, National Heart and Lung Institute, London, UK Velislav N Batchvarov MD Department of Cardiac and Vascular Sciences, St George’s Medical School, London, UK Iris Baumgartner MD Swiss Cardiovascular Center, Division of Angiology, University Hospital, 3010-Bern, Switzerland Authors: Stephan Achenbach MD FESC Department of Internal Medicine, University of Erlangen, Erlangen, Germany Antoni Bayés de Luna MD Director of Cardiology Department, Hospital Santa Creu i Sant Pau, Barcelona, Spain Etienne Aliot MD FESC FACC Department of Cardiology, University of Nancy, Vandoeuvre-les-Nancy, France Giancarlo Biamino MD Department of Clinical and Interventional Angiology, Heartcenter Leipzig, Leipzig, Germany Maurits A Allessie MD PhD Physiology Department, Maastricht University, Cardiovascular Research Institute Maastricht, Maastricht, The Netherlands Jean-Jacques Blanc MD FESC Département de Cardiologie, Hôpital de la Cavale Blanche, Brest, France Carina Blomström-Lundqvist MD PhD FESC FACC www.passfans.com/forum Department of Cardiology, University Hospital in Uppsala, Uppsala, Sweden Giacomo G Boccuzzi MD Unità di Cardiologia Invasiva, Ospedale San Giovanni Bosco, Torino, Italy Eric Boersma MSc PhD FESC Associate Professor of Clinical Cardiovascular Epidemiology, Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands Pathophysiology, Imperial College of Science, Technology and Medicine, Hammersmith Hospital, London, UK Alessandro Capucci MD Centro Studi, Associazione Cardiologi Ospedalieri, FIRE Study Investigators, Firenze, Italy Raffaele De Caterina MD PhD Director of University Cardiology Division, Università degli Studi di Chieti G D’Annunzio, Chieti, Italy Henri Bounameaux MD Professor of Medicine and Director of Division of Angiology and Homeostasis, University Hospital of Geneva, Geneva, Switzerland Christian de Chillou MD PhD Department of Cardiology, University of Nancy, Hopital de Brabois, Vandoeuvre-lesNancy, France Günter Breithardt MD FESC FACC Professor of Medicine, Department of Cardiology and Angiology, University of Münster, Münster, Germany Francesco Cosentino MD PhD Division of Cardiology, 2nd Faculty of Medicine, La Sapienza University, Ospedale Sant’ Andrea, Rome, Italy Michele Brignole MD FESC Chief of Department of Cardiology, Department of Cardiology, Ospedali de Tigullion, Lavagna, Italy, Filippo Crea MD PhD FESC FACC Professor of Cardiology, Director, Institute of Cardiology, Catholic University of the Sacred Heart, Rome, Italy Pedro Brugada MD PhD Cardiovascular Center, Onze Lieve Vrouw Hospital, Aalst, Belgium Harry JGM Crijns MD PhD FESC Department of Cardiology, University Hospital Maastricht, Maastricht, The Netherlands Dirk Brutsaert MD Laboratory of Physiology, University of Antwerp, Antwerp, Belgium Harry R Büller MD PhD Professor and Chair, Department of Vascular Medicine, University of Amsterdam, Amsterdam, The Netherlands Jean Dallongeville MD PhD Head of Laboratory, Arteriosclerosis Department, Pasteur Institute, Lille, France Werner G Daniel MD FESC FACC Professor of Internal Medicine, Medical Clinic II/Cardiology, University Clinic Erlangen, Erlangen, Germany José A Cabrera MD PhD Director of Arrhythmia Unit, Department of Cardiology, Fundacion Jimenez Diaz, Madrid, Spain John E Deanfield MD FRCP Professor of Cardiology, Great Ormond Street Hospital, London, UK Paolo G Camici MD FESC FACC FAHA FRCP Professor of Cardiovascular Maria Cristina Digilio MD Chief of Dysmorphology, Medical Genetics, Bambino Gesu Hospital, Rome, Italy www.passfans.com/forum Robert Dion MD PhD Professor and Head of Department of Cardiothoracic Surgery, Leiden University Medical Centre, Leiden, The Netherlands Lars Eckardt MD Klinik und Poliklinik C, Universitätsklinikum (Kardiologie/Angiologie), Münster, Germany Raimund Erbel MD Professor of Cardiology, Department of Cardiology, West German Heart Centre, University Duisburg-Essen Robert Fagard MD PhD Professor of Medicine, Hypertension Department, University of Leuven, Leuven, Belgium Erling Falk MD PhD Professor of Cardiovascular Pathology, Department of Cardiology, University of Aarhus, Aarhus, Denmark Jerónimo Farré MD PhD FESC Professor and Chair, Department of Cardiology, Fundacion Jimenez Diaz, Madrid, Spain Pim J de Feyter MD PhD Cardiologist, Erasmus Medical Centre, Rotterdam, The Netherlands Frank A Flachskampf MD FESC FACC Professor of Internal Medicine, Medical Clinic II/Cardiology, University Clinic Erlangen, Erlangen, Germany Keith AA Fox MD FRCP FESC Professor of Cardiology and Head of Medical and Radiological Sciences, Department of Cardiological Research, University of Edinburgh, Edinburgh, UK Kim Fox MD FRCP FESC Professor of Clinical Cardiology, Department of Cardiology, Royal Brompton Hospital, London, UK Pietro Francia MD Division of Cardiology, 2nd Faculty of Medicine, University La Sapienza, Ospedale Sant’ Andrea, Rome, Italy Nazzareno Galiè MD Institute of Cardiology, University of Bologna, Bologna, Italy Roy Gardner MD Department of Cardiology, Western Infirmary, Glasgow, UK Stephan Gielen MD Senior Resident, Department of Cardiology, University of Leipzig, Leipzig, Germany Christianne JM de Groot MD PhD Gynaecologist/Obstetrician, Department of Obstetrics and Gynaecology, Erasmus Medical Centre, Rotterdam, The Netherlands Rainer Hambrecht MD Department of Cardiology, University of Leipzig, Heart Centre, Leipzig, Germany Christian W Hamm MD Professor of Medicine and Medical Director, Abt Für Kardiologie, Kerckhoff Clinic & Max-Planck-Institute, Bad Nauheim, Germany Liv Hatle MD Norwegian University of Technology and Science, Trondheim, Norway Axel Haverich MD Hannover School of Medicine, Department of Cardiology, Hannover, Germany Christopher Heeschen MD Professor for Oncology and Transplantation Medicine, Experimental Surgery, Department of Surgery, LudwigMaximilians-University, Munich, Germany www.passfans.com/forum Otto M Hess MD Department of Cardiology, Universitätsklinik Inselspital, Bern, Switzerland Aroon Hingorani MA PhD FRCP Senior Fellow and Reader in Clinical Pharmacology, Centre for Clinical Pharmacology, Department of Medicine, University College London, London, UK Michel Komajda MD FESC Département de Cardiologie, Pitié Salpêtrière Hospital, Paris, France Paul Kotwinski MD Medical Genetics, Bambino Gesu Hospital, Rome, Italy Gaetano A Lanza MD FESC Università Cattolica di Roma, Istituto di Cardiologia, Rome, Italy Vibeke E Hjortdal MD DMSc PhD Professor of Congenital Heart Surgery, Department of Thoracic and Cardiovascular Surgery, University Hospital of Aarhus, Aarhus, Denmark Christophe Leclercq MD PhD Department de Cardiologie, Centre Cardiopneumologique, Centre Hospitalier Universitaire Pontchaillou, Rennes, France Stefan H Hohnloser MD Professor of Medicine, Department of Cardiology, JW Goethe University, Frankfurt, Germany Cecilia Linde MD PhD FESC Head of Cardiology, Department of Cardiology, Karolinska Hospital, Stockholm, Sweden Stephen Humphries MD Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College Medical School, London, UK Gregory YH Lip MD FRCP DFM FACC FESC Professor of Cardiovascular Medicine and Director of Haemostasis Thrombosis and Vascular Biology Unit, University Department of Medicine, City Hospital, Birmingham, UK Bernard Iung MD Professor of Cardiology, Cardiology Department, Bichat Hospital, Paris, France Pierre Jaïs MD Service du Professeur Clémenty, Hôpital du Haut Levêque, Bordeaux, France Raymond MacAllister MA MD FRCP Reader in Clinical Pharmacology, Centre for Clinical Pharmacology, Department of Medicine, University College London, London, UK Lukas Kappenberger MD Médecin Chef, Division de Cardiologie, Centre Hospitalier Universitaire Vaudois Lausanne, Lausanne, Switzerland Felix Mahler MD Professor of Angiology, Cardiovascular Department, University Hospital Bern, Bern, Switzerland Philipp A Kaufmann MD Nuclear Medicine and Cardiology, University Hospital Zürich, Zurich, Switzerland Bernhard Maisch MD FESC FACC Professor and Director of Internal Medicine and Cardiology, Phillips University, Marburg, Germany Sverre E Kjeldsen MD PhD FAHA Chief Physician and Professor, Department of Cardiology, Ullevaal University Hospital, Oslo, Norway Marek Malik PhD MD DSc DScMed FACC FESC Department of Cardiac and Vascular www.passfans.com/forum Sciences, St George’s Hospital Medical School, London, UK Guiseppe Mancia MD PhD Professor of Dipartimento di Medicina, Universita Milano-Bicocca in Ospedale San Gerardo Monza, Monza, Italy Bruno Marino MD Professor of Pediatrics and Chief of Pediatric Oncology, Department of Pediatrics, University La Sapienza, Rome, Italy Carlo Di Mario MD Consultant Cardiologist, Catheterization Laboratory, Royal Brompton Hospital, London, UK William McKenna MD FACC FESC Department of Cardiology, The Heart Hospital, London, UK John McMurray BSc (Hons) MBChB (Hons) MD FRCP FESC FACC Professor of Medical Cardiology, Department of Cardiology, Western Infirmary, Glasgow, UK Raad H Mohiaddin MD PhD FRCR FRCP FESC Consultant and Reader in Cardiovascular Imaging Royal Brompton Hospita and Imperial College London S Bertil Olsson MD PhD FESC FAHA MRPhS Professor, Department of Cardiology, University Hospital Lund, Lund, Sweden Dudley J Pennell MD FRCP FACC FESC Director of Cardiovascular Magnetic Resonance Unit, Royal Brompton Hospital, London, UK John Pepper MA MChir FRCS Professor of Cardiothoracic Surgery, Cardiac Department, Royal Brompton Hospital, London, UK Joep Perk MD FESC Consultant, Department of Internal Medicine, Public Health Department, Oskarshamn, Sweden Luc Pierard MD PhD FESC FACC Professor of Medicine and Head of Department of Cardiology, Service de Cardiologie, University Hospital SartTilman, Université de Liège, Liège, Belgium Patrizia Presbitero MD Chief of Interventional Cardiology Department, Istituto Clinico Humanitas, Rozzano, Italy Silvia G Priori MD PhD Associate Professor of Cardiology, University of Pavia, Pavia, Italy John Morgan MA MD FRCP Consultant Cardiologist, Wessex Cardiothoracic Centre, Southampton University Hospital, Southampton, UK Henry Purcell MB PhD Senior Fellow in Cardiology, Department of Cardiology, Royal Brompton Hospital, London, UK Carlo Napolitano MD PhD Senior Research Associate, Molecular Cardiology, Fondazione Salvatore Maugeri, Pavia, Italy Henrik M Reims MD Department of Cardiology, Ullevaal University Hospital, Oslo, Norway Christoph A Nienaber MD Head of Department of Cardiology and Vascular Medicine, Universitats Klinikum Rostock, Rostock, Germany Arsen D Ristic MD FESC Department of Cardiology, Belgrade University Medical School and Institute for Cardiovascular Diseases of the Clinical Center of Serbia, Belgrade, Serbia and Montenegro www.passfans.com/forum Jos Roelandt MD PhD FESC FACC FAHA Professor of Cardiology, Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands Marco Roffi MD Head of Cardiology, University Hospital Zürich, Zürich, Switzerland Jolien W Roos-Hesselink PhD MD Cardiologist, Department of Cardiology, Erasmus Medical Centre, Rotterdam, The Netherlands Annika Rosengren MD Deparment of Medicine, Sahlgrenska University ospital/Ostra, Goteborg, Sweden Lars Ryden MD FRCP DESC FACC Professor of Cardiology, Department of Cardiology, Karolinska Hospital, Stockholm, Sweden Hugo Saner MD Head of Cardiovascuar Prevention and Rehabilitation Inselspital, Swiss Cardiovascular Center Bern, Bern, Switzerland Heinz-Peter Schultheiss MD Professor and Director Cardiology and Pulmonology, University Hospital Benjamin Franklin, Berlin, Germany Peter J Schwartz MD Professor of Department of Cardiology, Policlinico S Metteo IRCCS, Pavia, Italy Udo P Sechtem MD Professor and Head, Department of Cardiology, Robert Bosch Medical Centre, Stuttgart, Germany Co-chairman of Cardiology, Department of Cardiology, University Hospital Bern, Bern, Switzerland Mary N Sheppard MD FRCPath Department of Histopathology, Royal Brompton Hospital, London, UK Gerald Simonneau MD Service de Pneumologie, Hôpital Antoine Béclère, Clamart, France Jordi Soler-Soler MD FESC FACC Professor of Cardiology, Department of Cardiology, University Hospital, Barcelona, Spain Irina Savelieva MD Division of Cardiac and Vascular Sciences, St George’s Hospital Medical School, London, UK Richard Sutton DScMed FRCP FESC Consultant Cardiologist, Royal Brompton Hospital, London, UK Dierk Scheinert MD Department of Clinical and Interventional Angiology, Heartcenter Leipzig, Leipzig, Germany Karl Swedberg MD PhD Professor of Medicine, Department of Medicine, Sahlgrenska University Hospital/Östra, Gothenburg, Sweden Sebastian M Schellong MD Head of Division of Angiology, Division of Vascular Medicine, University Hospital Carl Gustav Carus, Dresden, Germany William D Toff BSc MD MRCP Senior Lecturer in Cardiology, University of Leicester, Leicester, UK Andrej Schmidt MD Department of Clinical and Interventional Angiology, Heartcenter Leipzig, Leipzig, Germany Marko Turina MD Professor of Surgery, University Hospital, Zurich, Switzerland S Richard Underwood MD FRCP FRCR FESC FACC www.passfans.com/forum Professor of Cardiac Imaging, National Heart and Lung Institute, Imperial College, Royal Brompton Hospital, London, UK Alec Vahanian MD Head of Department, Cardiology Department, Hôpital Bichat, Paris, France Patrick Vallance PhD FRCP Professor, Centre for Clinical Pharmacology, The Rayne Institute, London, UK Hein JJ Wellens MD PhD FESC FACC Interuniversity Institute of Cardiology, Maastricht, The Netherlands Frans Van de Werf MD PhD FESC FACC FAHA Professor and Head of Department of Cardiology, Gasthuisberg University Hospital, Leuven, Belgium William Wijns MD PhD Cardiovascular Centre, Onze-Lieve-Vrouw Ziekenhuis, Aalst, Belgium Robert Yates MBBCh FRCP Consultant Fetal and Paediatric Cardiologist, Cardiothoracic Department, Great Ormond Street Hospital for Children, London, UK Felix Zijlstra MD PhD Director of Coronary Care Unit and Catheterization Laboratory, Cardiology Department, Academic Hospital Groningen, Groningen, The Netherlands www.passfans.com/forum Foreword Cardiovascular disease has become the foremost cause of death and permanent disability in western countries, and is set to become the foremost cause of death and permanent disability worldwide by the year 2020 We are confronting a pandemic that will be a heavy burden on the population and that will cause much human suffering The burden on health systems is also considerable in terms of healthcare expenditure, which looks set to continue growing Cardiovascular disease is becoming increasingly common, in particular all types of atherothrombosis This is driven by the rapid increase in the prevalence of risk factors among the world’s population, such as the increasing frequency of obesity, type diabetes, smoking, physical inactivity and psychological stress combined with a gradual increase in consumption of energy-dense foods and lower consumption of fruit and vegetables In this context, the burden of cardiovascular disease will continue to increase with a gradual increase in life expectancy in the population Despite major progress in this field over the last 50 years, there is still much to learn about the progression of cardiovascular disease, particularly in understanding the mechanism of disease, the pathophysiology and evolution of diagnostic methods The explosion of imaging techniques combined with ever more refined biological assays, particularly those based on genomics and proteomics, have all helped to make the diagnosis of cardiovascular diseases considerably more accurate and rapid This exponential progress is the result of very active research and heavy investment in this field This exciting progress has been translated from basic research into clinical management, thanks to active clinical research in cardiovascular disease A large number of clinical trials, surveys and registries have helped us to understand both the impact of cardiovascular disease on the population and the impact of new strategies for diagnosis and management European cardiologists have played an active part in advancing research in cardiovascular disease in basic, clinical and population sciences The overall result is an improvement in diagnostic and therapeutic potential, as well as better prevention measures Patients now benefit from a greater diversity of therapeutic options than ever before The dissemination of this increased knowledge base is of paramount importance because physicians need to be aware of the best evidence concerning the most suitable treatment strategies for a particular disease They need to implement this information in their daily routine practice, and keep abreast of changes and improvements in the management of cardiovascular disease The ESC mission statement is to improve the quality of life of the European population by reducing the burden of cardiovascular disease To fulfil its mission, the ESC has taken on the responsibility of training cardiologists and disseminating knowledge through congress activity, writing and publication of guidelines and, now, publication of The ESC Textbook of Cardiovascular Medicine This is the first textbook to be proposed by an international society of www.passfans.com/forum cardiology More specifically, the goals of the textbook are to address the knowledge requirements specified in the ESC Core Syllabus, to be consistent with ESC Guidelines and best practice and to produce a clinically focused resource for cardiologists and trainees In all, The ESC Textbook of Cardiovascular Medicine is set to become the new benchmark for cardiologists in Europe and beyond The textbook is available in traditional printed format, as well as an online edition complete with CME-accredited self-assessment programmes The online edition will be regularly updated, and it is hoped that translations will be available in the future A large number of prominent European cardiologists have contributed to this comprehensive textbook that covers all aspects of cardiovascular disease from diagnosis to management and prevention As a teaching text, this textbook covers knowledge that every general cardiologist needs to know and keep current, but does not address all the information needs of subspecialists The concise and practical style was deliberately chosen to make this textbook easy to use We would like to take this opportunity to thank all those who have contributed so generously their experience, and time, in order to produce this work, most particularly the authors and the co-editors The wealth of their experience will be invaluable in bringing the most pertinent information to our colleagues throughout Europe and around the world We are confident that this textbook will enjoy wide recognition, and hope that it will become a reference work for cardiologists around the globe Jean-Pierre Bassand President European Society of Cardiology 2002–2004 Michael Tendera President European Society of Cardiology 2004-2006 www.passfans.com/forum TETC16 12/2/05 18:31 Page 502 502 Chapter 16 during antihypertensive treatment is associated with reduced incidence of cardiovascular events, additional to the effects of blood pressure control However, not all antihypertensives are equipotent in this regard ACE inhibitors and AT receptor antagonists appear most efficacious Calcium channel antagonists also decrease left ventricular mass Atenolol, in contrast, has been linked with increased cardiovascular mortality in comparison with other antihypertensives [262] The hydrophilic profile of atenolol, and consequent low permeability into the central nervous system, may account for its apparent ineffectiveness in preventing VF Alcoholic cardiomyopathy Alcoholic cardiomyopathy (ACM), by definition, is a form of dilated cardiomyopathy that occurs secondary to excess long-term alcohol consumption The concept largely predates recognition of the genetic basis of DCM Since the prevalence of heavy alcohol intake far exceeds that of ACM, it is likely that ethanol, as a known myocardial depressant, unmasks an underlying genetic predisposition to DCM Intake of > 90 g of alcohol daily for over years appears to confer an increased risk of ACM [263] The effects of alcohol on the heart appear to be dose dependent but non-linear [264] The threshold for the development of ACM is also lower in women, although reasons underlying this increased sensitivity to alcohol have not been elucidated [265] Two phases are recognized in the natural history of ACM: an asymptomatic stage, characterized by isolated left ventricular enlargement with or without diastolic dysfunction; and a clinically overt stage, during which systolic impairment supervenes, together with signs and symptoms of heart failure The incidence of AF and nonsustained VT appears similar to that of DCM The sudden death rate is also comparable, although prognosis is noticeably more favourable in ACM patients practising abstinence [266] In vitro experiments and animal models have suggested several potential mechanisms for the development of ACM, including ethanol-induced apoptosis of cardiac myocytes, impaired function of the mitochondria and sarcoplasmic reticulum, altered expression of sarcomeric proteins, and abnormal calcium handling The contribution and interplay of these factors in the clinical setting remain to be clarified Heart failure therapy improves ventricular function in ACM, particularly in the presence of alcohol abstinence Increased LVEF has also been documented in the context of continued heavy drinking, but pharmacological therapy does not confer any survival benefit in this subgroup [267] The importance of abstinence in reducing mortality from ACM is therefore underscored A recent study suggests that comparable outcomes may be achieved by controlled moderate drinking [268], although longterm follow-up data in a large cohort will be necessary before this approach can be recommended Metabolic cardiomyopathy The term ‘metabolic cardiomyopathy’ refers to a heterogeneous group of disorders in which myocardial dysfunction occurs as a consequence of a derangement in metabolism Covered previously in this chapter are the cardiac complications of the storage diseases and mutations in AMP kinase, the cellular fuel gauge Nutritional deficits such as thiamine deficiency are well-known causes of a reversible DCM Perhaps the most common form of metabolic cardiomyopathy is that seen in association with diabetes Diabetes is a prominent risk factor for the development of ischaemic heart disease, but there is growing awareness of a direct effect on ventricular function that is independent of obstructed coronary arteries or concurrent hypertension The prevalence of heart failure is considerably higher in diabetic patients than in agematched controls, and a less favourable prognosis has also been reported [269,270] Diabetic cardiomyopathy may account, at least in part, for the increased risk Profound changes in cardiac metabolism occur in diabetes (Table 16.21) Periodic evaluation of diabetic patients may be advisable to ensure early detection of subclinical ventricular dysfunction Optimal glycaemic control and pharmacological therapy with ACE inhibitors/AT receptor antagonists and beta-blockers may attenuate ventricular remodelling and lead to improved survival Muscular dystrophy cardiomyopathy The muscular dystrophies are primary disorders of skeletal and/or cardiac muscle that have a genetic basis Originally defined by the presence of progressive muscle wasting and weakness, the dystrophies are classified according to the distribution and severity of skeletal muscle involvement Many forms of muscular dystrophy are accompanied by myocardial disease, which was previously attributed to processes extrinsic to the heart Weakness of the postural musculature causes lordosis and scoliosis, which impair thoracic movement during respiration Intrinsic disease of the intercostal muscles and diaphragm is also well described The combined result is restrictive lung disease, which may in turn lead to pulmonary hypertension and a secondary cardiomyopathy [271] However, cardiomyopathy in the muscular dystrophies is a consequence of intrinsic myocardial dysfunction www.passfans.com/forum TETC16 12/2/05 18:31 Page 503 Myocardial Disease Table 16.21 Factors that may contribute to myocardial dysfunction in diabetes Obstructive epicardial coronary artery disease Hypertension Disturbances in calcium homeostasis Decreased myosin ATPase activity Decreased uptake of calcium by sarcoplasmic reticulum Inhibition of Na+/K+-ATPase and Ca2+-ATPase Decreased Ca2+ sensitivity of actin–myosin complex Alterations in sarcomeric proteins Shifts in cardiac myosin heavy chain isoforms Effects on myosin light chain-2, troponin I Abnormalities of the microcirculation Oxidative stress Concomitant diabetic autonomic neuropathy Myocardial ischaemia Activated renin–angiotensin system Reduced glucose utilization Marked increase in fatty acid oxidation Reduced rates of lactate oxidation Inhibition of protein synthesis and increased catabolism of amino acids Data from Avogaro et al [270] rather than skeletal muscle disease and respiratory complications Several lines of evidence support this inference Duchenne and Becker muscular dystrophies have been linked to absolute or relative deficiency of the sarcolemmal protein dystrophin Mutations in dystrophin have also been identified in X-linked DCM [272], underlining its role in primary myocardial disease Molecular disruption of dystrophin in both ischaemic heart failure and DCM may be reversible by treatment with LVADs [67] Thus it has been proposed that dystrophin remodelling may provide a final common pathway for contractile impairment in heart failure Histological examination of the heart in Duchenne and Becker muscular dystrophy reveals replacement of the myocardium with connective tissue and fat [273] Similar findings in skeletal muscle suggest a common underlying disease process Equally compelling is the observation that female carriers of Duchenne and Becker muscular dystrophy may have left ventricular dilation in the absence of significant myopathic symptoms [274] In some forms of muscular dystrophy, notably Emery–Dreifuss, locomotor involvement is mild and cardiac manifestations predominate [275] Table 16.22 summarizes cardiac involvement in the muscular dystrophies and myotonic dystrophy Periodic evaluation of affected patients and carriers with 12-lead ECG, two-dimensional echocardiography and ambulatory ECG monitoring is recommended Myotonic dystrophy may occasionally present with cardiac manifestations and should be considered part of the differential diagnosis in a young patient with progressive conduction system disease Treatment is tailored according to the nature of cardiac involvement; conduction defects may require pacing, while standard heart failure therapy is indicated for ventricular dilation and impairment The presence of ventricular tachyarrhythmia in myotonic dystrophy may prompt the use of an ICD, as sudden death is a recognized complication Peripartum cardiomyopathy Peripartum cardiomyopathy (PPCM) is defined as left ventricular systolic impairment in the presence of the following additional criteria: presentation within month of delivery or during the first months post-partum; absence of pre-existing cardiac disease; and no other cause for cardiac dysfunction Underlying cardiac disorders that are unmasked by the haemodynamic stress of a normal pregnancy are thereby excluded [276,277] Prevalence and aetiology The true incidence has not been established, although existing data suggest a frequency of between in 3000 and in 10 000 pregnancies [278] This is likely to be an underestimate, as mild forms of PPCM probably remain unrecognized because of the prevalence of exertional dyspnoea and ankle oedema in the last trimester The aetiology of PPCM also remains uncertain (Table 16.23) Endomyocardial biopsies demonstrate features of myocarditis in up to 62% of cases [279], suggesting an inflammatory component However, there does not appear to be any association between the presence of myocarditis and the clinical outcome Malnutrition has been cited as a possible factor; women with PPCM in certain geographical areas have low plasma levels of selenium [280] Others, however, appear to have good nutritional status Viral infection has been postulated, although recurrence in subsequent pregnancies is less easy to explain on this basis One intriguing possibility is that of an abnormal immune response during pregnancy [281], which has also been implicated in the pathogenesis of pre-eclampsia Finally, familial occurrence of PPCM has been reported [282] The most likely explanation is that PPCM is a manifestation of familial DCM, with the cardiovascular burden of pregnancy uncovering previously www.passfans.com/forum 503 TETC16 12/2/05 18:31 Page 504 504 Chapter 16 Table 16.22 Cardiac involvement in muscular dystrophies Type Inheritance Gene affected Mechanism of disease expression Extracardiac manifestations Cardiac involvement Duchenne X-linked Dystrophin gene at Xp21 Dystrophin serves as a bridge between the cytoskeletal protein actin (at the N-terminus) and the transmembrane protein β-dystroglycan (at the C-terminus) Absence of dystrophin leads to disruption of the mechanical link between the sarcolemma and the extracellular matrix Childhood onset Progressive proximal myopathy Wheelchair-bound by teens Dilated cardiomyopathy Becker X-linked Dystrophin gene at Xp21 Dystrophin present but reduced in quantity or otherwise abnormal Onset age 12 or later in life Proximal myopathy Slowly progressive Dilated cardiomyopathy Emery– Dreifuss X-linked STA gene at Xq28 AD, rarely AR LMNA gene at 1q21 Emerin is an integral protein of the inner nuclear membrane Lamins A and C are also nuclear envelope proteins Contractures at ankles, elbows and neck Slowly progressive myopathy Humeroperoneal distribution Atrial flutter/fibrillation ‘Isolated atrial standstill’; low-amplitude or absent P waves; atria unresponsive to pacing Ventricular pacing indicated Massive atrial dilation; anticoagulants advised Dilated cardiomyopathy Sudden death AD DMPK gene at 19q13.3 Abnormal expansion of a trinucleotide cytosinethymine-guanine sequence in the myotonin protein kinase gene (DMPK) 35 copies or less of CTG repeat in normal subjects; 50–2000 in myotonic patients May demonstrate genetic anticipation Exact function of DMPK unknown; localized to intercalated discs; can modify actin cytoskeleton Myotonia Weakness of facial, pharyngeal and distal limb muscles Diabetes, thyroid dysfunction Cataracts Conduction system defects (prolonged PR interval and/or wide QRS on ECG; pacing may be required) Atrial flutter/fibrillation Ventricular tachyarrhythmia Sudden cardiac death Mitral valve prolapse LV dilation and/or systolic impairment Left ventricular hypertrophy Myotonic (type 1) AD, autosomal dominant; AR, autosomal recessive; LV, left ventricle unrecognized subclinical disease This possibility is supported by anectodal evidence but warrants further prospective evaluation Clinical presentation Patients with PPCM typically present with symptoms of left ventricular failure, such as orthopnoea and par- oxysmal nocturnal dyspnoea Repetitive monomorphic VT and systemic thromboembolism have also been reported The findings on physical examination may be difficult to interpret as a third heart sound and ejection systolic murmur are present in more than 90% of normal pregnant women Similarly, slight leftward deviation of the QRS axis is a normal ECG feature during pregnancy Non-specific ST-segment changes and supraventricular www.passfans.com/forum TETC16 12/2/05 18:31 Page 505 Myocardial Disease Table 16.23 Risk factors for the development of peripartum cardiomyopathy Increasing maternal age Multiparity Multiple pregnancy Pre-eclampsia Gestational hypertension Afro-Caribbean Familial occurrence Malnutrition Cocaine use by mother Long-term tocolytic therapy Selenium deficiency Chlamydia infection Enterovirus infection refractory ventricular failure, the potential risks to the fetus from ACE inhibitor therapy should perhaps be balanced against the urgent need to optimize ventricular function to ensure a positive outcome for both mother and baby Pregnancy per se is a hypercoagulable state, and the risk of thromboembolism is further enhanced by bed rest, diuretic therapy and impaired ventricular function Prophylactic doses of low-molecular-weight heparin are appropriate during pregnancy; warfarin may be instituted following delivery Prognosis and outcome Data from de Beus et al [276] and James [277] or ventricular extrasystoles are often seen in PPCM Two-dimensional echocardiography is the principal investigation Left ventricular systolic impairment is requisite for diagnosis, with some authors recommending strict echocardiographic criteria: LVEF < 45% and/or fractional shortening < 30% plus left ventricular enddiastolic measurement of 2.7 cm/m2 body surface area Dilation of cardiac chambers may also be present, particularly in patients presenting more than month after delivery Management Standard therapy for left ventricular failure is employed in PPCM Cardiogenic shock may necessitate insertion of an intra-aortic balloon pump In the absence of significant decompensation, however, PPCM may be managed on an out-patient basis ACE inhibitors and AT receptor antagonists are contraindicated after the first trimester owing to the potential for adverse effects on the fetus (oligohydramnios and its consequences, i.e limb deformities, cranial ossification deficits, lung hypoplasia) and neonate (hypotension and renal failure) However, beneficial rescue therapy with a low-dose, short-acting ACE inhibitor has been reported in a small series of pregnant women with severe resistant vasoconstrictive hypertension [283] Serial assessment of amniotic fluid volume was conducted and delivery was remote from maternal dosing There were no fetal or neonatal complications; improved haemodynamics were observed in the mothers, with successful continuation of pregnancy In a multicentre survey of the management of PPCM in current practice, 6% of perinatologists reported using ACE inhibitors during pregnancy [284] In cases of severe Reports of the long-term prognosis in PPCM are highly variable Many patients experience symptomatic improvement, accompanied by complete or partial recovery of left ventricular function However, a few progress to endstage heart failure In a retrospective series of 42 patients with PPCM followed up for an average of years, death was recorded in 7% and a similar proportion underwent cardiac transplantation Left ventricular function normalized in 43% Earlier studies indicated a less favourable clinical outcome, with mortality rates of up to 56% [285] Death usually results from worsening pump failure, although systemic thromboembolism and ventricular tachyarrhythmia have been documented Predictors of high risk are lacking at present, but a combined strategy of early recognition and aggressive medical therapy is recommended Counselling patients with PPCM on the issue of future pregnancies poses a major clinical challenge because of potential recurrences of symptomatic heart failure It has been suggested that subclinical ventricular dysfunction persists in many patients, and the haemodynamic burden of another pregnancy precipitates decompensation Reactivation of a pregnancy-related disease process may also be invoked Surveys of subsequent pregnancies in survivors of PPCM have elicited the following findings [286] Left ventricular dysfunction and clinical deterioration may recur in the mother The incidence of complications is higher (up to 50%) in women with incomplete recovery of ventricular function Maternal deaths are more likely to occur An increased incidence of fetal prematurity and loss is also reported in this subgroup Women in whom ventricular function has normalized prior to pregnancy are at very low risk of death Symptomatic heart failure may nonetheless recur in around 20% and result in persistent left ventricular impairment Careful monitoring is therefore warranted www.passfans.com/forum 505 TETC16 12/2/05 18:31 Page 506 506 Chapter 16 Personal perspective Myocardial diseases represent a large spectrum of inherited and acquired forms of heart muscle disease The term ‘cardiomyopathy’ has been used in the past to describe primary forms of myocardial disease of unknown aetiology However, in the past few years it has become evident that most of the primary forms are genetically transmitted, affecting the sarcomeric genes in HCM and the cytoskeleton-encoding genes in DCM Secondary forms may represent HCM or DCM and are, References Geisterfer-Lowrance AA, Kass S, Tanigawa G 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