Abstract:
:Familial dilated cardiomyopathy (F-DCM) describes a clinically and genetically heterogeneous group of diseases, mostly inherited as autosomal dominant traits, having idiopathic left ventricular dilatation and dysfunction as a common phenotype. The age of onset, rate of progression, disease complications, as well as overall prognosis and outcome vary both amongst and within families. Clinical traits, both cardiac and extracardiac, may recur in association with the DCM phenotype. The former include conduction defects, structural abnormalities such as left ventricular noncompaction, of right ventricular involvement, and recurrence of atrial or ventricular arrhythmias; the latter commonly affect the musculoskeletal (myopathies/dystrophies, both clinically overt and subclinical), ocular, auditory, nervous, and integument systems. These traits may help guide genetic testing. In parallel to the clinical heterogeneity, F-DCM also shows genetic heterogeneity: more than 40 genes have been causally linked to F-DCM, with mutations recurring more commonly in a few known genes, and less frequently in rare, less commonly known genes. Based on the known prevalence of mutations in disease genes, more than 50% of F-DCM cases can be regarded as still genetically orphan, implying that further disease genes have to be discovered. Family screening and genetic testing are now established as the gold standard for diagnosis, care, and prevention in F-DCM. Diagnostic tests are performed using Sanger-based sequencing. Furthermore, new biotechnology tools, based on next-generation sequencing, are now being implemented in the research setting and will dramatically modify the future of the nosology of F-DCM.
journal_name
Herzjournal_title
Herzauthors
Serio A,Narula N,Kodama T,Favalli V,Arbustini Edoi
10.1007/s00059-012-3707-9subject
Has Abstractpub_date
2012-12-01 00:00:00pages
822-9issue
8eissn
0340-9937issn
1615-6692journal_volume
37pub_type
杂志文章相关文献
HERZ文献大全abstract::Cardiac contractility modulation (CCM) is a device therapy for patients with systolic heart failure. CCM therapy applies non-excitatory signals during the absolute refractory period of the heart cycle. It influences myocardial contractility by modulating the regulation of calcium cycling. CCM therapy has been proven t...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/s00059-011-3510-z
更新日期:2011-10-01 00:00:00
abstract::The risk of malignant arrhythmias is higher during extremely intense exercise and after its cessation. It is still unclear whether high-intensity interval exercise (HIE), an increasingly popular option in preventive and rehabilitative medicine, can lead to an impaired electrophysiological milieu, as revealed by QT int...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-019-4808-5
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:The prognostic importance of high-sensitivity cardiac troponin T (hs-cTnT) has recently been reported in patients with heart failure. The myocardial performance index (MPI), which combines parameters of both systolic and diastolic ventricular function, provides a better marker of left ventricular dysfunction...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-015-4322-3
更新日期:2015-11-01 00:00:00
abstract::Coronary artery disease is still the no. 1 killer in the developed countries and must thus be detected and treated at an earlier stage. If coronary artery disease is advanced, patients have to be examined regarding the need for revascularization. For secondary prevention, of course, an optimal change of life style and...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/pl00001975
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:It is believed that most myocardial infarctions result from the rupture of "vulnerable plaques", that share certain common characteristics. These plaques typically consist of a lipid-rich core in the central portion of the thickened intima, covered by a thin friable fibrous cap. Today, one of the important c...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-003-2485-9
更新日期:2003-09-01 00:00:00
abstract::Electrophysiologic studies in patients with the Wolff-Parkinson-White (WPW) syndrome are performed for diagnostic and therapeutic reasons. Surface electrocardiographic leads plus intracardiac electrograms from different locations are stimultaneously recorded. Programmed electrical stimulation of the heart permits conf...
journal_title:Herz
pub_type: 杂志文章
doi:
更新日期:1979-02-01 00:00:00
abstract::Atrial fibrillation (AF) is the most frequently encountered sustained arrhythmia with a prevalence of 0.5-10%, depending predominantly on age. The arrhythmia is associated with significant morbidity and mortality, mainly due to thromboembolic events including stroke and systemic embolisms. These complications can be e...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/s00059-017-4648-0
更新日期:2018-02-01 00:00:00
abstract::With increasing age valvular heart disease is among the most frequent diseases of the heart. Relevant valvular disease impairs not only the long-term prognosis but also physical resilience, activities of daily living and the quality of life. In cases of middle to high-grade symptomatic cardiac defects, valve replaceme...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/s00059-020-04915-1
更新日期:2020-04-20 00:00:00
abstract::Of 89 children with angiographically-documented pulmonic stenosis and intact ventricular septum (PST), 76 (85.4%) had valvular, 11 (12.4%) infundibular and 2 (2%) had supravalvular lesions. Standard, p. a. view, chest X-rays of children with a mean age of 6 7/12 years were evaluated with respect to 1. cardiac enlargem...
journal_title:Herz
pub_type: 杂志文章
doi:
更新日期:1980-10-01 00:00:00
abstract:BACKGROUND:The emerging term "visceral adiposity index (VAI)" was reported to be closely correlated with glycemic disturbances and diabetes risk. However, whether VAI could predict future type 2 diabetes mellitus (DM) is unknown. Here, we aimed to assess the predictive value of VAI for DM in a Chinese population via a ...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-014-4175-1
更新日期:2015-05-01 00:00:00
abstract::Recent developments in technology have stimulated interest in the use of catheter-directed laser energy for removal of atherosclerotic plaques. Over the past three years, intensive research efforts by a number of investigators have defined the potential therapeutic benefit of laser angioplasty, as well as its limitati...
journal_title:Herz
pub_type: 杂志文章
doi:
更新日期:1985-12-01 00:00:00
abstract::The case presented here is intended to raise awareness of two uncommon coronary angiographic findings in the clinical context of acute coronary syndrome. The prevalence of patients presenting with spontaneous coronary dissection as the underlying cause of an ST-elevation myocardial infarction is low. It is typically f...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-011-3522-8
更新日期:2012-05-01 00:00:00
abstract::Chronic heart failure has an age-dependent prevalence of 2% and is therefore one of the most frequent diseases in western societies. A reduced hemoglobin concentration according to the definition of the World Health Organization is a common comorbidity affecting more than half of all heart failure patients. Elderly pa...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-013-3901-4
更新日期:2013-09-01 00:00:00
abstract::An electrophysiological study (EPS) and a programmed ventricular stimulation (PVS) are strongly recommended and clearly indicated before the implantation of a cardioverter defibrillator (ICD), if patients present with a cardiac arrest and no structural heart disease or a hypertrophic cardiomyopathy. In these patients ...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/s00059-005-2671-z
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:Inducible nitric oxide synthase (iNOS) single-nucleotide polymorphisms have been reported to confer susceptibility to hypertension, but no consensus has been reached. The aim of this study was to investigate the association between iNOS and hypertension in a Chinese population. METHODS:This was a case-contr...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-017-4591-0
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Serum cholesterol is positively associated with the risk of developing coronary heart disease. The aim of this study was to determine the relation between response of coronary arteries to ergonovine provocation and lipid profile in patients with nonsignificant coronary artery disease. PATIENTS A...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-007-2831-4
更新日期:2007-06-01 00:00:00
abstract::Stress echocardiography has come a long way in the past ten to twelve years since it first began. There have been many procedural and technical advances. The results being obtained by those laboratories with active programs are very gratifying. Stress echocardiography is proving to be particularly valuable in women an...
journal_title:Herz
pub_type: 杂志文章,评审
doi:
更新日期:1991-10-01 00:00:00
abstract::Blood pressure, the central parameter in the diagnosis of arterial hypertension, is subject to a high degree of variability. The dilemma for the evaluating physician is that he has no true value for the resting blood pressure that is both comparable and reproducible. Reproducibility, however, is an essential requireme...
journal_title:Herz
pub_type: 杂志文章
doi:
更新日期:1987-04-01 00:00:00
abstract::Acute heart failure and especially its most severe form, cardiogenic shock, remain the final common pathway to death in a substantial number of patients with acute myocardial infarction (MI). Several studies demonstrated that mechanical reperfusion of occluded coronary arteries by percutaneous coronary intervention (P...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/s00059-006-2940-5
更新日期:2006-11-01 00:00:00
abstract::To account for the current evidence in the field of infective endocarditis and to harmonize deviant national guidelines, in 2009 the European Society of Cardiology published novel recommendations on the prevention, diagnosis and treatment of infective endocarditis.The most important changes can be found concerning ant...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-010-3403-6
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:Contrast echocardiography has been used as a clinical method for more than 20 years. Using conventional ultrasound techniques the clinical use of contrast was limited. Now the development of "contrast specific" imaging modalities has increased the indications for contrast echocardiography. CONTRAST AGENTS:F...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-002-2371-x
更新日期:2002-05-01 00:00:00
abstract::In a prospective double-blind study of 40 male patients requiring aorto-coronary bypass surgery, a dose of 8 ng/kg/min of PGI2 was infused throughout extracorporeal circulation (ECC) (control group: glycine buffer). Between the two treatment groups there was no difference in preoperative hemodynamic parameters, number...
journal_title:Herz
pub_type: 临床试验,杂志文章
doi:
更新日期:1985-12-01 00:00:00
abstract:BACKGROUND:Fragmented QRS complexes (fQRS) have been associated with increased morbidity and mortality, sudden cardiac death, and recurrent cardiovascular events. The association between left ventricular systolic and diastolic functions and presence of fragmented QRS has not been comprehensively studied to date. We tes...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-012-3739-1
更新日期:2013-09-01 00:00:00
abstract::Numerous angiographic control regression studies have demonstrated that aggressive reduction of plasma cholesterol significantly reduces the incidence of clinical overt cardiovascular complications, but has almost no effect on the angiographically determined luminal diameter of the coronary arteries. These, as well as...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/BF03043815
更新日期:1999-02-01 00:00:00
abstract::Left ventricular hypertrophy (LVH) is a strong, independent predictor of cardiovascular events and all-cause mortality. Patients with LVH are at increased risk for stroke, coronary heart disease, congestive heart failure, and sudden cardiac death. Hypertension is a major influence on the development of LVH. The progno...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/s00059-006-2819-5
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND:Once contraindicated, beta-blockers have become an established, evidence-based, recommended treatment concept in chronic heart failure during the last years. PATHOPHYSIOLOGY:The increased activation of the adrenergic system in heart failure syndrome, which leads to transmission of several adverse biological...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/s00059-002-2353-z
更新日期:2002-03-01 00:00:00
abstract::Modern therapeutic options in ischemic coronary disease such as thrombolysis, coronary angioplasty, new emerging strategies in treating heart failure and secondary prevention have resulted in decreasing cardiac mortality over the last ten years. In the era of interventional cardiology a new focus of clinical interest ...
journal_title:Herz
pub_type: 杂志文章,评审
doi:
更新日期:1994-02-01 00:00:00
abstract::There is a J-shaped correlation between the amount of alcohol consumed per day and overall mortality risk and an inverse correlation between the amount of alcohol consumed per day and cardiovascular mortality. The evidence is stronger for men than for women. The correlations are independent of the type of alcoholic be...
journal_title:Herz
pub_type: 杂志文章
doi:10.1007/s00059-016-4467-8
更新日期:2016-09-01 00:00:00
abstract::Interventional catheterization for congenital heart disease has rapidly developed over the last 2 decades. The role of interventions has evolved from replacing surgery altogether in some cases to complementing surgery in others. The most commonly used approaches to common cardiac lesions such as persistent arterial du...
journal_title:Herz
pub_type: 杂志文章,评审
doi:10.1007/s00059-008-3133-1
更新日期:2008-12-01 00:00:00
abstract::Despite all advances in the diagnostic and therapy of cardiovascular diseases the mortality from malignant ventricular tachyarrhythmias is still a major health problem. In addition to established therapeutic strategies in the prevention of sudden cardiac death such as antiarrhythmic drug treatment, catheter ablation o...
journal_title:Herz
pub_type: 杂志文章,评审
doi:
更新日期:1994-10-01 00:00:00