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Guidelines for Diagnosis and Treatment of Patients with Hypertrophic Cardiomyopathy (JCS 2012) – Digest Version – JCS Joint Working Group

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Guidelines for Diagnosis and Treatment of Patients with Hypertrophic Cardiomyopathy (JCS 2012) – Digest Version – JCS Joint Working Group Circulation Journal JCS GUIDELINES Official Journal of the Japanese Circulation Society http://www.j-circ.or.jp Guidelines for Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy (JCS 2012) – Digest Version – JCS Joint Working Group Table of Contents Introduction to the Revised Guidelines ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 753 III Treatment∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 763 I Pathophysiology ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 754 1. Management of Daily Life ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 763 1. Definition and Basic Pathophysiology ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 754 2. Pharmacotherapy ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 763 2. Causes of Hypertrophic Cardiomyopathy ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 756 3. Non-Pharmacotherapy ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 766 3. Pathophysiology and Hemodynamics ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 757 4. Management and Treatment of Hypertrophic 4. Prognosis ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 757 Cardiomyopathy in Children ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 769 II Diagnosis ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 757 References ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 769 1. Symptoms and Physical Findings ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 758 Appendix ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 773 2. Evaluation Method ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 758 3. Diagnostic Flow Charts∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 761 (Circ J 2016; 80: 753 – 774) 4. Diagnosis of Hypertrophic Cardiomyopathy in Children ∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙∙ 762 Introduction to the Revised Guidelines The diagnosis and treatment of hypertrophic cardiomyopathy accumulated consistently for 10 years since the release of the (HCM) require special expertise. Physicians often encounter first edition of this guideline document. A number of new this disease in clinical practice, but there are few randomized genetic mutations associated with HCM have been reported. clinical studies on the diagnosis and treatment of this disease, Physicians are becoming increasingly aware of the importance especially that on optimal treatment options. In 2002, The of differentiating HCM from other conditions such as Fabry Japanese Circulation Society published the “Guidelines for disease that may cause HCM-like cardiac hypertrophy but Diagnosis and Treatment of Patients with Hypertrophic Car- requiring different treatment. The clinical use of diagnostic diomyopathy” (Chair: Junichi Yoshikawa). In 2007, the guide- imaging techniques especially cardiac magnetic resonance lines were revised to add new findings obtained during the five imaging (MRI) has become common, and physicians under- years after the launch of the first edition (Chair: Yoshinori stand better the clinical significance of late gadolinium en- Doi), and the second edition was used widely in clinical prac- hancement (LGE) on contrast-enhanced MRI. New findings tice. During the five years after the release of the second edi- have also been obtained for risk factors in high-risk patients. tion, the American College of Cardiology Foundation (ACCF)/ In the present revision, a section on device therapy is newly the American Heart Association (AHA) and the European added to the chapter on non-pharmacotherapy to describe Society of Cardiology (ESC) provided new guidelines on the implantable cardioverter-defibrillators (ICDs) and cardiac re- diagnosis and treatment of cardiomyopathies. We decided to synchronization therapy (CRT) in addition to the descriptions revise the guidelines to reconfirm the definition of HCM and on pacemaker therapy in the previous versions. Data on the add new findings. mid- and long-term outcome of percutaneous transluminal Since few randomized clinical studies are available for the septal myocardial ablation (PTSMA) are added in this revi- diagnosis and treatment of HCM, not only data in Japan but sion. In the present revision of the guidelines, members of the also those in Western countries were referred in this revision expert committee discussed in depth, and independent assess- as in the previous ones. However, new clinical data have been ment committee members provided comments to make the Released online February 3, 2016 Mailing address: Scientific Committee of the Japanese Circulation Society, 18F Imperial Hotel Tower, 1-1-1 Uchisaiwai-cho, Chiyoda-ku, Tokyo 100-0011, Japan. E-mail: [email protected] This English language document is a revised digest version of Guidelines for Diagnosis and Treatment of Patients with Hypertrophic Cardiomyopathy reported at the Japanese Circulation Society Joint Working Groups performed in 2011 (Website: http://www.j-circ. or.jp/guideline/pdf/JCS2012_doi_d.pdf). Joint Working Groups: The Japanese Circulation Society, The Japanese Association for Thoracic Surgery, The Japanese Society of Pediat- ric Cardiology and Cardiac Surgery, Japanese Association of Cardiovascular Intervention and Therapeutics, Japanese Society for Car- diovascular Surgery, The Japanese College of Cardiology, The Japanese Society of Electrocardiology ISSN-1346-9843 doi: 10.1253/circj.CJ-66-0122 All rights are reserved to the Japanese Circulation Society. For permissions, please e-mail: [email protected] Circulation Journal Vol.80, March 2016 754 JCS Joint Working Group guidelines useful in clinical practice. We hope these guide- [Abbreviations] lines will help clinicians treat patients with HCM. ACCF: American College of Cardiology Foundation In this document, recommendations for the diagnosis and ACE: angiotensin-converting enzyme treatment of HCM are described with their classification of AHA: American Heart Association recommendations and level of evidence grade. Classification AMP: adenosine monophosphate of Recommendations and Level of Evidence are as follows: ARB: angiotensin receptor blocker CRT: cardiac resynchronization therapy Classification of Recommendations CT: computed tomography Class I: There is evidence and/or general agreement that a DDD: dual-chamber, dual-pacing, dual-response given procedure or treatment is useful and effective. D-HCM: dilated phase of hypertrophic cardiomyopathy Class II: There is conflicting evidence and/or a divergence of ECG: electrocardiography opinion about the usefulness/efficacy of a procedure ESC: European Society of Cardiology or treatment. FDG-PET: fluorodeoxyglucose positron emission tomography Class IIa: Weight of evidence and data and opinion is in HCM: hypertrophic cardiomyopathy favor of usefulness and/or effectiveness. HOCM: hypertrophic obstructive cardiomyopathy Class IIb: Usefulness/efficacy is less well established by ICD: implantable cardioverter-defibrillator evidence/opinion. LGE: late gadolinium enhancement Class III: There is evidence and/or general agreement that the LVEF: left ventricular ejection fraction procedure/treatment is not useful/effective, and in LVOT: left ventricular outflow tract some cases may be harmful. MHLW: Ministry of Health, Labor and Welfare MR: mitral regurgitation Level of Evidence MRI: magnetic resonance imaging Level A: Data derived from multiple randomized clinical NYHA: New York Heart Association studies or meta-analyses. PTSMA: percutaneous transluminal septal myocardial ablation Level B: Data derived from a single randomized study or QOL: quality of life large-scale non-randomized studies. RI: radioactive isotope Level C: Only consensus opinion of experts and/or small-size SAM: systolic anterior motion clinical studies (including retrospective studies and WHO/ISFC: World Health Organization/International Soci- registries). ety and Federation of Cardiology I Pathophysiology 1. Definition and Basic Pathophysiology include ischemic, valvular, hypertensive, inflammatory (myo- carditis) and metabolic cardiomyopathies, sensitivity and toxic reactions, peripartum cardiomyopathy, and general system 1. Definition and Classification disease including neuromuscular disorders, and connective Clinically, cardiomyopathies are defined as a group of dis- tissue disorders. eases of the myocardium associated with cardiac dysfunction In 2006, the AHA proposed a new definition and classifica- where no other causes such as valvular disease and hyperten- tion of cardiomyopathies.9 The AHA defined cardiomyopa- sion are present.1–4 Hypertrophic cardiomyopathy is defined thies as a “heterogeneous group of diseases of the myocardi- by an increase in the thickness of the left or right ventricular um associated with mechanical and/or electrical dysfunction wall or of both walls.5–7 that usually (but not invariably) exhibit inappropriate ven- In the report of the World Health Organization/Interna- tricular hypertrophy or dilatation and are due to a variety of tional Society and Federation of Cardiology (WHO/ISFC) causes that frequently are genetic.” In 2008, the ESC revised Task Force on the Definition and Classification of Cardiomy- the WHO/ISFC classification to define a cardiomyopathy as opathies published in 1980,8 cardiomyopathies are defined as “heart muscle diseases of unknown cause.” However, with advanced research and characterization of causative genes and abnormal sarcomere proteins, WHO/ISFC revised the defini- Table 1. Definition and Classification of Cardiomyopathies tion by deleting the expression of “unknown cause” to “dis- by the 1995 WHO/ISFC
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