Heart Valve Involvement in Fabry Cardiomyopathy

Fabry disease is a rare X-linked lysosomal storage disorder leading to an accumulation of glycosphingolipids in all tissues and organs including the heart. Among the pathologies of myocardial involvement, reviews and registry data list affection of heart valves and its hemodynamic significance as predominant alterations during progression of the disease. We thought to approach this uncertainty with a systematic observational study. In a single center study, 111 patients with genetically proven Fabry disease were systematically investigated by echocardiography for abnormalities of the valves in the left (aortic and mitral valve) and right heart (pulmonary and tricuspid valve). In addition, 60 patients were followed by echocardiography for 2.7 ± 1.5 y (range 1 to 6). Both valve stenosis and regurgitation were classified as mild, moderate or severe. Overall, no patient had severe heart valve abnormalities. The most frequent findings were mild aortic (n = 17), mitral (n = 57) and tricuspid (n = 38) valve regurgitation. Only two patients showed mild aortic valve stenosis. Moderate aortic (n = 1), mitral (n = 2) or tricuspid (n = 1) regurgitation were rarely detected. All Fabry patients in advanced stages (n = 9) had only mild mitral regurgitation and one of them had mild aortic and mitral regurgitation, moderate tricuspid regurgitation and mild aortic stenosis. Thirty patients had completely normal valve function. There was no significant change toward hemodynamic relevant heart valve abnormalities during follow-up. Mild left ventricular valve regurgitations are frequent in Fabry disease. However, these valve abnormalities are not the major limitations for the Fabry heart. (E-mail: weidemann_f@medizin.uni-wuerzburg.de)     

Tricuspid valve insufficiency: what should be done?

Tricuspid regurgitation is relatively common. Due to the progress made in echocardiography, its diagnosis is in general made readily and in reliable fashion. Basically one has to distinguish between functional tricuspid valve regurgitation due to volume and/or pressure overload of the right ventricle with intact valve structures versus tricuspid valve regurgitation due to pathologic valve structures. The clear identification of the regurgitation mechanism is of prime importance for the treatment. Functional tricuspid valve regurgitation can often be improved by medical treatment of heart failure, and eventually a tricuspid valve plasty can solve the problem. However, the presence of pathologic tricuspid valve structures makes in general more specific plastic surgical procedures and even prosthetic valve replacements necessary. A typical example for a structural tricuspid valve regurgitation is the case of a traumatic papillary muscle rupture. Due to the sudden onset, this pathology is not well tolerated and requires in general surgical reinsertion of the papillary muscle. In contrast, tricuspid valve regurgitation resulting from chronic pulmonary embolism with pulmonary artery hypertension, can be improved by pulmonary artery thrombendarteriectomy and even completely cured with an additional tricuspid annuloplasty. However, tricuspid regurgitations due to terminal heart failure are not be addressed with surgery directed to tricuspid valve repair or replacement. Heart transplantation, dynamic cardiomyoplasty or mechanical circulatory support should be evaluated instead.     

Mechanism of tricuspid regurgitation in paramembranous ventricular septal defect.

Literature has been limited in regard to the mechanisms of tricuspid regurgitation (TR) in patients with paramembranous (perimembranous) ventricular septal defect (VSD). Most observations have noted tricuspid valve clefts or dysplasia. We describe another mechanism for production of TR in association with paramembranous VSD. In 8 patients, we found significant TR produced by the VSD jet pushing the tricuspid anterior leaflet forward to open the tricuspid valve orifice. In these patients, a moderate paramembranous VSD extended slightly below the septal tricuspid leaflet with only partial obstruction of the VSD jet. All patients had restrictive VSD with low right ventricular pressure. This mechanism to produce TR was best defined by intraoperative transesophageal echocardiography, but current higher resolution imaging should allow correct diagnosis. We believe that when this mechanism for TR is found in association with a moderate VSD, surgical VSD closure is warranted.     

Tricuspid regurgitation: when is it time for surgery?

ABSTRACT

Introduction: The interest in tricuspid regurgitation (TR) surgical treatment has grown in the last years, mostly motivated by the trend for early intervention and the development of minimally invasive surgical techniques. Despite this, there is still a lack of evidence regarding when to intervene in functional tricuspid regurgitation outside the context of left-sided valve surgery and when is the best time to approach primary tricuspid regurgitation.

Areas covered: Herein, we present the state-of-the-art in tricuspid regurgitation surgical intervention, covering indications, optimum time, surgical options, and outcomes, as well as the role of transcatheter tricuspid valve intervention in the current era.

Expert opinion: Current evidence support that the indications and timing of tricuspid valve invasive management should be centered on a range of factors, including patients’ characteristics, disease stage, and anatomical considerations. Early intervention, before severe right ventricle dysfunction and pulmonary hypertension, seems to results in better postoperative outcomes. Transcatheter techniques are arising as potential alternatives for inoperable and high-risk patients.     

心外膜彩色多普勒超声在三尖瓣成形术中的应用

目的　评价术中心外膜超声心动图 (IEE)在三尖瓣成形术 (TVP)中的作用。方法　对 17例风湿性心脏病 (RHD)换瓣术并 TVP患者在术中体外循环前后用 IEE对三尖瓣的形态和功能进行评价以指导 TVP。结果　体外循环前 IEE新发现 3例患者伴左房血栓 ,1例伴卵园孔未闭 ,1例伴动脉导管未闭 ,另 1例经 IEE提示作了补救性 TVP,避免了二次开胸。全组患者术后即刻在 1～ 2周后三尖瓣环直径、三尖瓣返流束长度 ,面积及其与右房长度面积比值均显著减少 (P<0 .0 1)。结论　 IEE在 TVP中具有重要应用价值。     

Dilation of the coronary sinus on echocardiogram: prevalence and significance in patients with chronic pulmonary hypertension.

BACKGROUND: Although rarely seen in healthy patients, the coronary sinus (CS) is often visualized on echocardiography in patients with right-sided heart disease. However, the prevalence of this finding and its relation to right-sided heart structure and pressure remains undefined. METHODS: We examined the transthoracic echocardiograms of 43 consecutive patients referred for the evaluation of pulmonary hypertension (26 men, 17 women) with a mean age of 53 +/- 15 years (range 21 to 82 years). Structural abnormalities of the tricuspid valve were absent. All patients underwent right heart catheterization within 48 hours of their echocardiogram, which revealed the following pressures: mean pulmonary artery (50 mm Hg, range 31 to 84 mm Hg) and right atrial (RA) (mean 10, range 1 to 24 mm Hg). Echocardiograms were analyzed for CS size (identified as the smallest diameter of a circular structure in the left atrioventricular groove in the parasternal long-axis view), as well as RA and right ventricular (RV) sizes. The presence and severity (grades 1 through 3) of tricuspid regurgitation (TR) were also recorded. RESULTS: The CS was visualized in 35 (81%) of 43 patients, and measurements ranged from 0.4 to 1.6 cm (mean 0.8 cm). No difference in RA size, RV size, TR grade, RA pressure (RAP), RV pressure (RVP), mean pulmonary artery pressure (PAP), or pulmonary vascular resistance (PVR) was observed between patients with a visualized and nonvisualized CS. Coronary sinus size correlated significantly with RA size (r = 0.60, P <.001) and pressure (r = 0.59, P <.001), but not with RV size, degree of TR, RVP, PAP, or PVR. Nineteen of 35 patients with a visualized CS underwent pulmonary artery thromboendarterectomy (PTE), and their CS size and RAP were unchanged (0.8 cm and 12 mm Hg, respectively, preand post-PTE; both P = NS [not significant]), though a decrease was observed in other measurements: RA size (4.2 versus 4.8 cm, P =.02), RV size (4.2 versus 5.1 cm, P =.0004), mean PAP (37 versus 72 mm Hg, P <.0001), and PVR (230 versus 899 mm Hg, P <.0001). CONCLUSIONS: Coronary sinus dilation was observed in 81% of a selected group of patients with pulmonary hypertension in the absence of structural disease of the tricuspid valve. Coronary sinus dilation is related to RAP and RA size, but not to RV size, degree of TR, RVP, PA pressure, or PVR. Once dilated, CS size does not change shortly after decreases of RA size, RV size, or PA pressure produced by PTE.     

Prognostic Importance and Predictors of Survival in Isolated Tricuspid Regurgitation: A Growing Problem

ObjectiveTo define mortality associated with isolated tricuspid regurgitation (TR) and identify risk factors associated with decreased survival.Patients and MethodsWe conducted a retrospective cohort study of residents of southeastern Minnesota with moderate-severe or more severe isolated TR diagnosed between January 1, 2005, and April 15, 2015. Isolated TR was defined as TR in the absence of left-sided heart disease or pulmonary hypertension. Patients with an ejection fraction of less than 50%, right ventricular systolic pressure greater than 45 mm Hg, moderate or more severe left-sided valve disease, congenital cardiac anomalies, previous valve operation, tricuspid stenosis, flail leaflet, carcinoid, and rheumatic disease were excluded. Five-year survival was compared with age- and sex-matched Minnesota census bureau data. Multivariate regression was used to identify variables associated with mortality.ResultsOver a 10-year period, 289 patients with isolated TR were identified. The mean ± SD age was 79.2±10.6 years, 70.6% (204) were women, atrial fibrillation was present in 74.0% (214), and 24.6% (71) had an intracardiac device. By 5 years after diagnosis, 51.5% had been hospitalized for heart failure. Observed 5-year mortality was 47.8% compared with 36.3% in the census data (P=.005). After adjusting for age and other comorbidities, multivariate regression identified a dilated inferior vena cava (≥2.1 cm) without respiratory variation on echocardiography (hazard ratio, 1.93; 95% CI, 1.13-3.31; P=.02) and creatinine level greater than 1.6 mg/dL (hazard ratio, 1.8; 95% CI, 1.16-2.8; P=.009) as associated with increased mortality.ConclusionPatients with isolated TR are frequently hospitalized for heart failure and experience excess mortality. Elevated right atrial pressure and renal dysfunction are associated with mortality. This poor outcome may have implications for timing of intervention.     

室间隔完整的肺动脉闭锁的产前超声诊断

目的探讨室间隔完整的肺动脉闭锁的胎儿期超声诊断声像特征、检测技巧及其鉴别诊断,提高此类畸形的产前检出率。 方法对33200例胎儿均采取胎儿心脏四腔心切面加胎儿头侧偏转法获得四腔心切面及左右心室流出道及主、肺动脉长轴切面快速筛查胎儿心脏畸形,对疑有胎儿心脏畸形者则更行详细的胎儿彩色多普勒超声心脏检查。分析8例产前及产后诊断的室间隔完整的肺动脉闭锁的声像特征和病理特征。 结果产前共诊断室间隔完整的肺动脉闭锁8例,其主要声像特征是8例均有肺动脉内径细小,彩色多普勒于三血管气管平面显示7例动脉导管内血流反向,7例右室右房扩大,6例右室壁厚,7例中重度三尖瓣反流,1例三尖瓣下移畸形,1例三尖瓣狭窄并右室小。 结论肺动脉内径细小、不同程度的右房右室扩大、三尖瓣畸形、右室发育不良、动脉导管内血流反向是肺动脉闭锁的主要声像特征,三血管气管平面是产前超声诊断室间隔完整的肺动脉闭锁的关键切面,需注意与主动脉闭锁、永存动脉干进行鉴别。     

彩色多普勒血流显像检测胎儿心脏三尖瓣返流

目的 探讨胎心三尖瓣返流的原因与临床价值。方法 应用彩色多普勒血流显像对２０例胎心三尖瓣返流进行了检测,观察胎心结构、返流信号分布、测量最大返流速度。结果 ２０例胎心三尖瓣返流的原因为：先心病组６例,均显示心内结构异常;Ⅱ先心病组１４例,４例表现右心扩大,无心内结构畸形;两组返流速度无显著差异（Ｐ〉０．０５）。结论 先心病引起的三尖瓣返流是因心脏结构异常所致,非先心病性三尖瓣返流主要由于胎心右室功     

Partial Rupture of the Tricuspid Valve after Extraction of Permanent Pacemaker Leads: Detection by Transesophageal Echocardiography

Traumatic lesions of the tricuspid valve complicating pacemaker lead extractions appear to be rare. We report two cases of partial rupture of the tricuspid valve, following apparently uneventful extraction of permanent ventricular leads, resulting in severe regurgitation and. in one case, chronic heart failure. TEE was useful to identify the traumatic mechanism of tricuspid regurgitation (TR) and the extent of valvular lesions in these patients. Such etiology should be suspected, and TEE performed, in patients developing TR or heart failure late after lead extraction.     

风湿性心脏病二尖瓣置换术后三尖瓣返流的再手术治疗

目的分析风湿性心脏病二尖瓣置换术后再发三尖瓣返流（TR）患者的临床特点、外科手术方法和疗效,总结围手术期处理经验。方法2000年1月至2011年12月,17例风湿性心脏病二尖瓣置换术后再发三尖瓣返流的患者在我院接受单纯再次三尖瓣手术,行三尖瓣成形术10例,包括单纯DeVega成形术1例、瓣叶成形＋人工瓣环成形9例;行三尖瓣置换术7例,其中置换生物瓣4例,双叶机械瓣3例,回顾性分析其临床表现、诊治经过和预后情况。结果术后早期死亡1例（5．88％,1／17）,死于术后左心功能衰竭。术后发生低心排血量综合征3例,肾功能不全2例,呼吸功能不全2例,均成功救治。随访14例,随访时间3～9年,心功能I级2例,Ⅱ级8例,Ⅲ级4例。失访2例。结论对风湿性心脏病二尖瓣置换术后三尖瓣返流患者再手术治疗效果较好,合理掌握手术指征、手术时机和良好的围手术期处理是提高手术成功率的关键。     

Surgical pathology of the pulmonary valve: a study of 116 cases spanning 15 years

The gross surgical pathologic features of the pulmonary valve were reviewed in 116 patients (63 male and 53 female) who had undergone a cardiac operation with pulmonary valve excision at our institution during the period 1973 through 1987. Although the mean age was 12 years, subjects ranged in age from 3 months to 73 years, and 25 patients, including 19 with congenital heart disease, were older than 20 years of age. Among 105 patients who had pure pulmonary stenosis, 61 (58%) had tetralogy of Fallot, 18 had isolated pulmonary stenosis, 23 had other congenital cardiac anomalies, and 3 had carcinoid heart disease. Five patients had pure pulmonary regurgitation (four with tetralogy and one with infective endocarditis), and four had combined pulmonary stenosis and regurgitation (two with congenital cardiac anomalies and two with carcinoid heart disease). In two patients, the valve was neither stenotic nor regurgitant. Thus, congenital heart disease accounted for 110 of the 116 cases (95%), and tetralogy of Fallot was the most commonly observed form (65 cases). Bicuspid pulmonary valve was the most common anomaly and was present in 58% of patients with tetralogy but in only 17% of those with isolated pulmonary stenosis.     

Outcomes and Echocardiographic Follow-up After Surgical Management of Tricuspid Regurgitation in Patients With Transvenous Right Ventricular Leads

ObjectiveTo evaluate outcomes of elective surgical management of tricuspid regurgitation (TR) in patients with transvenous right ventricular leads, and compare results between non–lead-induced and lead-induced TR patients.Patients and MethodsWe studied patients with right ventricular leads who underwent tricuspid valve surgery from January 1, 1993, through December 31, 2015, and categorized them as non–lead-induced and lead-induced TR. Propensity score (PS) for the tendency to have lead-induced TR was estimated from logistic regression and was used to adjust for group differences.ResultsFrom the initial cohort of 470 patients, 444 were included in PS-adjustment analyses (174 non–lead-induced TRs [123 repairs, 51 replacements], 270 lead-induced TRs [129 repairs, 141 replacements]). In PS-adjusted multivariable analysis, lead-induced TR was not associated with mortality (P=.73), but tricuspid valve replacement was (hazard ratio, 1.59; 95% CI, 1.13 to 2.25; P=.008). Five-year freedom from tricuspid valve re-intervention was 100% for non–lead-induced TR and 92.3% for lead-induced TR; rates adjusted for PS differed between groups (P=.005). There was significant improvement in TR postoperatively in each group (P<.001). In patients having tricuspid valve repair, TR grades tended to worsen over time, but the difference in trends was not significantly different between groups.ConclusionLead-induced TR did not affect long-term survival after elective tricuspid valve surgery. In patients with lead-induced TR, tricuspid valve re-intervention was more common. Improvement in TR was achieved in both groups after surgery; however, severity of TR tended to increase over follow-up after tricuspid valve repair.     

肺动脉瓣缺失伴右心发育不良的诊断学特征及文献复习

目的探讨肺动脉瓣缺失、三尖瓣闭锁、室间隔完整、动脉导管未闭、动脉导管未闭并发右室发育不良患者的超声影像学及病理特征。 方法回顾性分析1例于2016年2月23日就诊于湖北省妇幼保健院,在超声科经产前超声诊断为肺动脉瓣缺失病例的声像图特征和病理结果,并文献复习。 结果孕妇27岁,孕24.6周,胎儿产前超声表现为：肺动脉瓣缺失,肺动脉与动脉导管均显示双向的血流信号,并记录到双向动脉频谱,静脉导管A波反向,三尖瓣闭锁,右心室小。诊断：法洛四联症(肺动脉瓣缺失型),右心发育不良。患儿大体检查结果：心房正位,心室右襻,大动脉正常位置,动脉导管可见,肺动脉瓣缺失,三尖瓣闭锁,右心室发育不良,室间隔完整。镜下结构：右心室及右心室游离壁可见疏松的结缔组织,部分围成血窦结构,其间可见少量散在的心肌细胞。左心室：正常心肌结构。病理诊断：肺动脉瓣缺失,三尖瓣闭锁,室间隔完整。 结论法洛四联症合并肺动脉瓣缺失综合征同时伴有三尖瓣闭锁、室间隔完整和右心室发育不良非常罕见,掌握特殊的解剖、组织学和血液动力学特征,对本类患者的正确诊断有指导价值。     

Percutaneous bicuspidalization of the tricuspid valve using the MitraClip system

An 84-year-old man with cardial senile amyloidosis and severe tricuspid regurgitation was referred for right sided heart failure symptoms. The patient was scheduled for a percutaneous treatment due to the prohibitive risk of surgery. Two MitraClips were implanted using a transjugular approach with successful echocardiographic and clinical results. This case shows the rational of the procedural with a bicuspidalization of the valve demonstrated at the three dimensional transesophageal echocardiography.     

The importance of tricuspid regurgitation and right ventricular overload in ICD/CRT recipients: beside the left, beyond the left

Device therapy for advanced heart failure has become increasingly employed in the last 10 years. Several retrospective studies have postulated a harmful effect of implantable cardioverter-defibrillator (ICD) lead placement on tricuspid valve function and right heart hemodynamics, in particular among patients with preexisting pulmonary vascular overload and both left and right ventricular remodeling/dysfunction. This functional hypothesis is also supported by long-term clinical follow-up analyses of ICD and cardiac resynchronization therapy recipients. In this viewpoint, we propose that the possibility of worsening tricuspid regurgitation and consequent hemodynamic deterioration following device implantation should be considered in future studies, as well as in the preimplant evaluation of individual candidates among other clinical factors.     

多普勒超声心动图评价甲亢性心脏病患者心脏形态及血流动力学改变

目的探讨甲亢性心脏病(HHD)患者的心脏形态和血流动力学改变.方法应用多普勒超声测量73例HHD和75例健康对照组各心腔大小、瓣口血流速度和瓣膜返流,评价左室收缩功能,并利用三尖瓣返流速度计算肺动脉收缩压.结果 HHD患者82.7%有不同程度房室腔扩大,左室收缩功能大多正常或高于正常;88%HHD存在瓣口返流,其中二尖瓣、三尖瓣中-重度返流; 14例HHD患者有瓣膜增厚,27例可见二尖瓣脱垂;肺动脉增宽和肺动脉高压发生率分别为62.6% 和73.3%.结论 HHD可引起不同房室腔扩大,左房扩大最常见,右室扩大多于左室扩大;HHD常合并瓣膜反流,部分患者瓣膜增厚;肺动脉增宽和肺动脉高压是HHD的普遍现象.     

Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases

Ebstein anomaly, an abnormally low insertion of the tricuspid valve, occurs in 0.5% of patients with congenital heart disease. In rare cases, this disorder may be complicated by congestive heart failure in utero and hydrops fetalis. This article reports the prenatal sonographic features of 2 cases of Ebstein anomaly associated with hydrops fetalis. In both cases, fetal echocardiography was performed at 34 weeks of gestation. The 4-chamber view showed fetal cardiomegaly and pericardial effusion. In both cases, the annular attachment of the tricuspid valve leaflets was difficult to demonstrate and so distal that it could easily be confused with papillary muscle in the right ventricular wall. Poor fetal cardiac hemodynamics with severe tricuspid regurgitation was demonstrated by pulsed Doppler imaging. Pulmonary regurgitation was also clearly demonstrated in both cases. Preterm delivery with stillbirth occurred in both cases. Autopsies confirmed the very distal displacement of the tricuspid valve insertion, close to the apex, and enlargement of the right atrium.     

Tricuspid regurgitation in children: a pulsed Doppler, contrast echocardiographic and angiographic comparison

Thirty-one children with congenital heart disease were examined for tricuspid regurgitation by four methods: (1) auscultation, (2) pulsed Doppler echocardiography, (3) saline contrast echocardiography, and (4) right ventricular angiography. Tricuspid regurgitation was detected in three children by auscultation, in 20 by pulsed Doppler echocardiography, in 21 by saline contrast echocardiography, and in 20 by right ventricular angiography. To determine the prevalence of tricuspid regurgitation in children suspected of having congenital heart disease, we reviewed 5417 Doppler echocardiograms performed between 1983 and 1985. Tricuspid regurgitation was detected in 399 of 4670 children (8.5%) with congenital heart disease and in 26 of 106 newborns (25%) with respiratory distress. By comparison, tricuspid regurgitation was detected in only 19 of 641 (3%) normal children. Tricuspid regurgitation is uncommon in normal children, but its incidence in children with congenital heart disease and/or respiratory distress is high.     

Timing of pulmonary valve replacement after tetralogy of Fallot repair

Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease. If left untreated, it carries a 33% mortality in the first year of life and a 50% mortality in the first 3 years of life. Since the introduction of the first open-heart repair by Lillehei and Varco in 1954, surgical management of TOF has evolved to be the primary repair during infancy in the majority of patients. Surgical management of TOF results in anatomic and functional abnormalities in the majority of patients, such as chronic pulmonary valve regurgitation and right ventricular (RV) dysfunction. Long-standing chronic pulmonary valve regurgitation can result in RV dilatation and failure, increasing tricuspid regurgitation, impaired exercise performance and supraventricular or ventricular arrhythmias. A timely reoperation may prevent these consequences, with a complete RV-function recovery. This article provides insight into the questions of when to perform a pulmonary valve implantation and in whom.