Ventricular Arrhythmias and Left Ventricular Dysfunction in Familial Cardiomyopathy

ABSTRACT. In familial cardiomyopathy (CM), different forms of myocardial abnormalities including asymmetric and symmetric hypertrophy and dilated left ventricles are presented, mostly showing varying hereditary penetrance. This study presents a family with CM including three major clinical manifestations: severe ventricular arrhythmias, repolarization abnormalitites and left ventricular hypertrophy. This triad was strikingly consistent in the two generations examined. The familial pattern with an autosomal dominant inheritance did not show any linkage to the HLA region.     

Sex Differences in Left Ventricular Cavity Dilation and Outcomes in Acute Heart Failure Patients With Left Ventricular Systolic Dysfunction

Background

In this study we evaluated the influence of sex on the left ventricular end-diastolic dimension (LVEDD) and adverse outcomes in patients hospitalized for acute decompensated heart failure (HF) with a reduced ejection fraction (EF).

Association of Wolff-Parkinson-White With Left Ventricular Noncompaction Cardiomyopathy in Children

BackgroundWolff-Parkinson-White (WPW) has been associated with left ventricular noncompaction (LVNC) in children. Little is known about the prevalence of this association, clinical outcomes, and treatment options.MethodsRetrospective review of subjects with LVNC. LVNC was defined by established criteria; those with congenital heart disease were excluded. Electrocardiograms (ECGs) were reviewed for presence of pre-excitation. Outcomes were compared between those with isolated LVNC and those with WPW and LVNC.ResultsA total of 348 patients with LVNC were identified. Thirty-eight (11%) were found to have WPW pattern on ECG, and 84% of those with WPW and LVNC had cardiac dysfunction. In Kaplan–Meier analysis, there was significantly lower freedom from significant dysfunction (ejection fraction ≤ 40%) among those with WPW and LVNC (P < .001). Further analysis showed a higher risk of developing significant dysfunction in patients with WPW and LVNC versus LVNC alone (hazard ratio 4.64 [2.79, 9.90]). Twelve patients underwent an ablation procedure with an acute success rate of 83%. Four patients with cardiac dysfunction were successfully ablated, 3 having improvement in function.ConclusionWPW is common among children with LVNC and is associated with cardiac dysfunction. Ablation therapy can be safely and effectively performed and may result in improvement in function.     

孤立性心肌致密化不全患者左室收缩功能的相关因素分析

目的总结孤立性左室心肌致密化不全（ILVNC）患者的临床资料,并对其左室收缩功能的相关影响因素进行分析。方法连续入选自2006年1月至2010年9月经超声心动图确诊为ILVNC的患者共41例,总结其临床资料,并对可能影响该组患者左室射血分数（LVEF）的因素进行分析。结果 41例患者（男性35例）LVEF均值为31.41±11.21%;最常受累的心肌节段是心尖部（100%受累）,其次是心尖段外侧壁（92.7%受累）、心尖段下壁（82.9%受累）和心尖段前壁（70.7%受累）。相关性分析表明,LogNT-proBNP、左室舒张末内径（LVEDD）和室壁运动评分指数（WMSI）与LVEF均呈负相关,r分别为-0.441（P=0.007）、-0.357（P=0.022）以及-0.714（P=0.000）,具有显著的统计学意义;受累节段数目和NC/C比值则与LVEF无显著相关性;WMSI与受累节段数目呈正相关（r=0.362,P=0.020）,与NC/C比值无显著相关性（P=0.254）。结论 ILVNC患者LVEF左室整体收缩功能与NT-proBNP及LVEDD呈负相关,而与受累心肌节段数目、NC/C比值无明显关联。     

Outcomes in Patients With Hypertrophic Cardiomyopathy and Left Ventricular Systolic Dysfunction

BackgroundEnd-stage (ES) hypertrophic cardiomyopathy (HCM) has been considered a particularly grim and unfavorable disease complication, associated with substantial morbidity and mortality, frequently requiring heart transplant. Previous reports have included small numbers of patients with relatively short follow-up, predominantly in prior treatment eras.ObjectivesThe purpose of this study was to re-evaluate clinical profile and prognosis for end-stage heart failure in a large HCM cohort with contemporary management strategies.MethodsPatients at Tufts HCM Institute, from 2004 to 2017, were identified with ES and systolic dysfunction (ejection fraction [EF] <50%), followed for 5.8 ± 4.7 years (up to 18 years).ResultsOf the 2,447 patients, 118 (4.8%) had ES-HCM (EF 39 ± 9%; range 12% to 49%) at age 48 ± 15 years. Notably, over follow-up, 57 patients (48%) achieved clinical stability in New York Heart Association functional classes I/II with medical treatment (or cardiac resynchronization therapy), including 6 patients ≥10 years from ES diagnosis (up to 14 years). In total, 61 other patients (52%) developed refractory heart failure to disabling New York Heart Association functional classes III/IV (5.2%/year); 67% have survived, including 31 with heart transplant. Of the 118 ES patients, 21 had appropriate implantable cardioverter-defibrillator (ICD) therapy terminating potentially lethal tachyarrhythmias, with no difference in frequency of events in patients with EF 35% to 49% versus EF <35% (17% vs. 19%; p = 0.80). With all available treatment modalities, ES-related mortality was 1.9%/year, with 10-year survival of 85% (95% confidence interval: 77% to 94%). Mortality was 4-fold lower than previously reported for ES (8.0%/year), but exceeded 10-fold HCM with preserved EF (0.2%/year; p < 0.001).ConclusionsAlthough ES remains an important complication of HCM, contemporary treatment strategies, including ICDs and heart transplant, are associated with significantly lower mortality than previously considered. Primary prevention ICDs should be considered when EF is <50% in HCM. Rapid heart failure progression is not an inevitable consequence of ES, and some patients experience extended periods of clinical stability.     

Clinical Outcomes in Patients With Isolated Left Ventricular Noncompaction and Heart Failure

BackgroundWe prospectively evaluated long-term clinical outcomes of patients diagnosed with isolated left ventricular noncompaction (ILVNC) and heart failure from a sub-Saharan African population.Methods and ResultsPatients in this single-center study were followed at a tertiary care institution. Clinical follow-up was performed with the use of protocol-driven echocardiographic screening for ventricular thrombus every 4 months. Warfarin was maintained or initiated only if thrombus was detected with the use of echocardiography. Fifty-five patients were followed for 16.7 ± 5.9 (range 12–33) months. All individuals had left ventricular (LV) ejection fraction <50% (mean 29.6 ± 11.8%). Of the 55 patients, 7 (12.7%) died, and sudden cardiac death was the cause in 5 (71.4%). There were no differences in baseline clinical, echocardiographic, or electrocardiographic characteristics between survivors and nonsurvivors. Recurrent heart failure developed in 12 patients (21.8%); 1 patient developed a ventricular arrhythmia. No thromboembolic or major bleeding complications occurred in the 16 patients on warfarin; 1 episode of thromboembolism occurred in the 39 patients not on warfarin. Mean survival probability at 33 months was 0.64.ConclusionsSudden cardiac death was the most common cause of death in patients with ILVNC and heart failure. Recurrent heart failure occurred in 21.8% of patients. Development of LV thrombus and cardioembolism is uncommon in this population.     

Cardiomyopathy and Pregnancy: Considerations for Women With Severely Reduced Left Ventricular Dysfunction

Women with dilated cardiomyopathy or left ventricular (LV) dysfunction (LV ejection fraction [LVEF] < 40%) from other etiology are at increased risk of maternal and fetal mortality and morbidity. They should undergo preconception evaluation, risk assessment, and treatment modification including discontinuation and replacement of contraindicated medications. A close follow-up and treatment by a multidisciplinary team is recommended at all stages: preconception, gestation, delivery, and postpartum. An early gestational and delivery plan has to be prepared to face complications and to achieve a successful delivery and outcome. Long-term postpartum cardiac follow-up is recommended anticipating potential adverse effects of pregnancy. The recommended mode of delivery for most patients is vaginal. The indications for cesarian section are mainly obstetric, unless the patient is in severely decompensated heart failure or urgent delivery if the patient is receiving warfarin therapy. Cardiac events during pregnancy or in the first months postpartum occur in 32%-60% of patients. Prepregnancy signs of heart failure, atrial fibrillation, and New York Heart Association functional classification (NYHA FC) > II were associated with a poor cardiac outcome. Predictors of deterioration during pregnancy that are considered very high risk and should be advised to avoid pregnancy are: patients with NYHA FC III/IV unless improved under treatment and LVEF < 20%. Predictors for high risk of adverse outcome include: LVEF < 30%, NYHA FC II, ventricular tachyarrhythmias (including patients with implantable cardioverter defibrillator or cardiac resynchronization therapy defibrillator),atrial fibrillation with rapid ventricular rate, severe mitral regurgitation, significant right ventricular failure, and hypotension. Overall, despite a high rate of complications, most women with LV dysfunction can undergo a successful pregnancy.     

Left Ventricular Dysfunction and Heart Failure Mechanistic and Therapeutic Distinctions

Dysfunction of the left ventricle may result from a variety of insults, all of which may initiate a self-perpetuating process of ventricular remodeling which may progress to end-stage heart disease. Symptoms of heart failure may or may not coexist with this ventricular remodeling. Treatment and prevention of these two largely distinct entities differ. Symptoms may respond to diuretics, vasodilators and digoxin. Progressive ventricular remodeling may be slowed by angiotensin converting enzyme inhibitors, hydralazine + isosorbide dinitrate and beta blockers. Prevention of symptomatic heart failure is dependent on early recognition of ventricular dysfunction and aggressive treatment to slow its progression. Development of more effective and targeted therapies will be dependent on expanded insight into the cellular and molecular mechanisms contributing to the remodeling process.     

左心室重构对扩张型心肌病心力衰竭近期死亡的意义

目的:研究左心室重构指标对扩张型心肌病心力衰竭近期死亡的估测价值.方法:随机选取扩张型心肌病心力衰竭患者103例,于入选当时行常规经胸心脏彩色多普勒超声心动图检查,测量左心房内径(LADs),左心室内径,左心室射血分数,球形指数等指标.所有患者随访1～12个月,平均(6.57±3.53)个月,记录死亡事件(死亡者为死亡组)及存活时间(存活者为存活组).对比死亡与存活者上述各指标的差异,并采取相关分析和多因素分析法筛选与近期死亡密切相关的指标.结果:在随访过程中,死亡21例,其中死于心力衰竭者17例.死亡组的患者其左心房收缩末期内径及左心室舒张末期内径明显扩大,球形指数-1显著大于存活组,有显著性差异(P＜0.05),同时收缩功能障碍和心功能分级也明显重于存活组.经Cox多因素回归分析,与生存时间相关的指标只有心功能分级(B＝0.833,P=0.024),LADs(B＝0.073,p=0.028)和球形指数-1 (B＝1.401,p=0.028),其中球形指数-1的相关性最大.结论:心功能分级、左心房收缩末期内径及左心室球形指数-1对扩张型心肌病心力衰竭的近期死亡有重要预测价值,其中评价左心室形态的球形指数-1价值最大,而衡量左心室大小及收缩功能的指标对近期死亡并无影响.