{"title":"Mitochondrial Cardiomyopathy","authors":"Ryosuke Tashiro, N. Onoue, T. Shinozaki","doi":"10.5772/intechopen.77105","DOIUrl":"https://doi.org/10.5772/intechopen.77105","url":null,"abstract":"Mitochondrial diseases are multisystem disorders, resulting from mitochondrial electron transport chain dysfunction and oxidative phosphorylation due to pathogenic variants in mitochondrial or nuclear DNA. The clinical presentations are variable in the age of onset, symptoms, and range and severity of organ involvement. Diagnosis requires a multidisciplinary approach and is based on clinical symptoms, laboratory tests, histo- pathological findings, and genetic analysis. Due to the multi-organ involvement, the evaluation of mitochondrial diseases should include a systemic screening for all targeted organs, including neuroimaging, ophthalmology, and hearing examinations. Cardiac involvement should be evaluated at the time of diagnosis, as cardiac involvement is an independent predictor of morbidity and early mortality, even in asymptomatic cases. Hypertrophic cardiomyopathy is the most common cardiac manifestation; however, mitochondrial cardiomyopathy might also present as left ventricular non-compaction (LVNC) or as dilated, histiocytoid, or restrictive cardiomyopathy. The precise evaluation of cardiac involvement is of clinical use in predicting future cardiac events and prognosis. Despite advancements in molecular biology, no satisfactory treatments for mitochondrial diseases exist. Treatment remains largely symptomatic and does not significantly alter disease progression.","PeriodicalId":213648,"journal":{"name":"Current Perspectives on Cardiomyopathies","volume":"99 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114327890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Epsilon Waves: The Gate to Understand Arrhythmogenic Right Ventricular Dysplasia","authors":"Guoliang Li, A. Saguner, G. Fontaine","doi":"10.5772/INTECHOPEN.75871","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.75871","url":null,"abstract":"Arrhythmogenic right ventricular dysplasia (ARVD), first recognized in 1977, is an inher - ited cardiomyopathy mostly due to mutations in both desmosomal and non-desmosomal genes. ARVD is considered as a leading cause of sudden cardiac death in the young and the athlete. It is characterized by an abnormality in the development of the right ven tricular (RV) musculature. The final diagnosis of ARVD was pathologically based on the findings characterized by fibro-fatty infiltration and cardiomyocyte loss predominantly affecting the RV. Epsilon waves are a feature of ARVD reflecting postexcitation of the myocytes in the RV that are interspersed between fibrous and fatty tissue. Epsilon waves are considered to be one of the major diagnostic criteria of ARVD and appear to correlate with the extent of ARVD and arrhythmic risk. In this review, we will briefly review the discovery of ARVD and Epsilon waves, discuss the electrogenesis and various methods for recording Epsilon waves, provide evidence to assist in understanding the pathologi cal and functional changes of the heart in ARVD, thus promoting the management of this disease in patients and family members.","PeriodicalId":213648,"journal":{"name":"Current Perspectives on Cardiomyopathies","volume":"128 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132126254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Isolated Form of Left Ventricular Non-compaction Cardiomyopathy (LVNC) as a Rare Cause of Heart Failure","authors":"Skopoulis Sotiris","doi":"10.5772/INTECHOPEN.76379","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.76379","url":null,"abstract":"Non-compaction cardiomyopathy (LVNC) is a rare, hereditary disease manifested by heart failure, thromboembolic complications and arrhythmias, which can even result in a sudden cardiac arrest. This disease is often misdiagnosed as dilated or ischemic cardiomyopathy, apical hypertrophic cardiomyopathy, or other myocardial infiltrative processes, including tumours. Due to its potentially severe complications and outcomes it should be always considered as a part of differential diagnosis.","PeriodicalId":213648,"journal":{"name":"Current Perspectives on Cardiomyopathies","volume":"77 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132736718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic Evaluation of Hypertrophic Cardiomyopathy","authors":"C. Florescu","doi":"10.5772/intechopen.79626","DOIUrl":"https://doi.org/10.5772/intechopen.79626","url":null,"abstract":"Hypertrophic cardiomyopathy (HCM) is defined as left ventricular hypertrophy in the absence of abnormal loading conditions. In 50–60% of adolescents and adults with HCM, the disease is inherited as an autosomal dominant trait caused by mutations in cardiac sarcomere protein genes. The most cases are due to mutations in genes which determine the synthesis of myosin-binding protein C (MYBPC3) and beta-myosin heavy chain (MYH7). More rarely involved genes are those encoding myosin light chain 3 (MYL3), tropomyosin alpha-1 chain (TPM1), and cardiac troponins I and T (TNNI3, TNNT2). Mutations in genes encoding Z-disc or calcium-handling proteins account for less than 1% of cases. Multiple sarcomeric protein mutations are present in up to 5% of individuals. A further of 5% of patients have inherited metabolic or neuromuscular diseases, chromosome abnormalities, and genetic syndromes. HCM is characterized by a highly heterogeneous phenotype, highly variable intraand interfamily expressivity and incomplete penetrance, therefore by a genotype-phenotype plasticity.","PeriodicalId":213648,"journal":{"name":"Current Perspectives on Cardiomyopathies","volume":"61 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125913507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Contemporary Surgical Treatment for Hypertrophic Cardiomyopathy","authors":"T. Murashita","doi":"10.5772/INTECHOPEN.75866","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.75866","url":null,"abstract":"Hypertrophic cardiomyopathy is the most common cause of sudden death in young athletes. Surgical septal myectomy is highly effective for the patients with hypertrophic obstructive cardiomyopathy, which is refractory to medical treatment. The perioperative mortality rate for isolated septal myectomy is less than 1% in high volume centers. The long-term outcomes have been reported to be outstanding with >90% of patients being free of significant symptoms and most being able to return to a normal lifestyle. There is a documented survival benefit after surgical septal myectomy. There is a wide variation of pathophysiology in hypertrophic cardiomyopathy including diffuse midventricular obstruction or subvalvular abnormalities. Several surgical approaches have been applied in accordance with the pathophysiology, such as transaortic, transapical, and transmitral septal myectomy. There is a controversy how to manage concomitant mitral valve regur- gitation. The most recent Society of Thoracic Surgeons database showed that operative mortality of concomitant septal myectomy and mitral valve operations was double com- pared with isolated septal myectomy.","PeriodicalId":213648,"journal":{"name":"Current Perspectives on Cardiomyopathies","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117074898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Burhan Sheikh Alkar, Gustav Mattsson, P. Magnusson
{"title":"Ischemic Cardiomyopathy: Contemporary Clinical Management","authors":"Burhan Sheikh Alkar, Gustav Mattsson, P. Magnusson","doi":"10.5772/INTECHOPEN.76723","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.76723","url":null,"abstract":"Ischemic cardiomyopathy, disease of the heart muscle due to coronary artery disease, is the most common cardiomyopathy. It is often difficult to discern the etiology of heart failure, and often there are multiple underlying causes. Ischemic cardiomyopathy most often pres - ents with a dilated morphology with wall motion defects and a history of previous myocar dial infarction or confirmed coronary artery disease. Mechanisms of myocardial depression in ischemia are necrosis of myocardial cells resulting in irreversible loss of function or reversible damage, either short term through myocardial stunning or long term through hibernation. In ischemic cardiomyopathy, echocardiography may be extended with stress testing or other imaging modalities such as myocardial scintigraphy and cardiac magnetic resonance tomography. Coronary angiography is often considered a gold standard; how -ever, other modalities such as positron emission tomography can be needed to detect small vessel disease. Cardiac revascularization, through percutaneous coronary intervention and coronary artery bypass grafting, both in acute coronary syndrome and in stable coronary artery disease, relieves symptoms and improves prognosis. Therapy should aspire to treat ischemia, arrhythmias in addition to heart failure management, which includes device therapy with cardiac resynchronization therapy, implantable cardioverter defibrillators, and mechanical support as bridging or destination therapy in end-stage disease.","PeriodicalId":213648,"journal":{"name":"Current Perspectives on Cardiomyopathies","volume":"49 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114668380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Takotsubo Syndrome: Still Graveyard of Case Reports?","authors":"G. Demir","doi":"10.5772/INTECHOPEN.76525","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.76525","url":null,"abstract":"Takotsubo syndrome, or previously named as Takotsubo cardiomyopathy, is an increasingly recognized acute reversible form of heart failure, which is typically seen in postmenopausal women following emotional or physical stress. Although several mechanisms regarding pathophysiology had been proposed, the most common ones include catecholamine toxicity, diffuse epicardial coronary artery spasm and microvascular dysfunction. A vast majority of patients with TTS (>90%) have good prognosis as they regain normal left ventricular systolic function in 3–6 months after the acute phase. Increased awareness among physicians led to the recognition of a great number and variety of conditions associated with TTS and played a key role for the development of new diagnostic criteria. However, there are still big gaps in the management and treatment of this syndrome to be supported with further well-designed randomized controlled trials.","PeriodicalId":213648,"journal":{"name":"Current Perspectives on Cardiomyopathies","volume":"98 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123906784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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