Prevalence of papillary muscle hypertrophy in fabry disease.

BACKGROUND AND AIMS: Fabry disease (FD) is an X-linked genetic lysosomal disease, in which a deficit in the alpha-galactosidase A enzyme results in lysosomal build-up of globotriaosylceramide in several organs, causing cardiac, renal and cerebrovascular complications. The aim of this study was to assess the prevalence of papillary muscle hypertrophy (PMH) in patients with FD. METHODS: A group of 63 patients with FD and a positive genetic diagnosis were studied and were divided into two groups: one included 24 patients with FD and LVH and another group included 39 patients with FD and without LVH. Papillary muscles were measured from the left parasternal short axis view, defining PMH as a diastolic thickness greater than 11 mm in any diameter. RESULTS: Patients with FD and LVH had a high prevalence of anterolateral PMH (66.6%), and such prevalence was lower for the posteromedial PMH (33.3%). However, patients who had not yet developed LVH had a high prevalence of anterolateral PMH (33.3%). CONCLUSIONS: Patients with FD in the pre-clinical stage (without LVH) have a high prevalence of PMH, especially involving the anterolateral papillary muscle. This finding could be an early marker for the development of LVH, allowing to suspect the disease during its early stages, and begin enzyme replacement therapy in the appropriate patients.

Speckle Tracking Imaging in Patients with Pulmonary Hypertension.

BACKGROUND: Right ventricular (RV) systolic dysfunction is a strong predictor of mortality in pulmonary hypertension (PH). The goal of this study was to investigate whether right atrium (RA) and RV myocardial strain related to PH using speckle tracking echocardiography provide a superior estimation of RV systolic function than 2-dimensional (2D)-echo. METHODS: This cross-sectional study analyzed 22 patients with a diagnosis of PH stratified by right heart catheterization, and they were compared to a control group of 22 age- and sex-matched healthy subjects. RESULTS: Global longitudinal peak systolic strain measured in the RV free wall from the apical 4 chamber view was -15% vs. -14.5% when measured from the subcostal view (p = 0.99). Mean longitudinal strain during reservoir phase, and longitudinal strain rate during atrial reservoir and passive conduit function was significantly impaired measured in the right atrial free wall in patients with PH. CONCLUSIONS: This study showed impaired LV contractility in patients with PH assessed by speckle tracking strain. RV free wall longitudinal strain does not correlate with any of the measurements of RV systolic function obtained by 2D echocardiography. A major strength of RV longitudinal strain is its ability to assess the RV function without the limitations of 2D parameters. The subcostal RV strain is a feasible and accurate alternative to conventional RV strain from the apical view in patients with poor acoustic apical 4-chamber windows. The RA strain and strain rates values may be a valuable additive to assess right-sided heart function.

Use of tissue doppler imaging for the early detection of myocardial dysfunction in patients with the indeterminate form of Chagas disease.

INTRODUCTION: Chagas disease is one of the most common diseases in Latin America and heart involvement is the main cause of death. This study aimed to determine differences in tissue Doppler imaging (TDI) parameters in the assessment left and right ventricular function in patients with the indeterminate form of Chagas disease compared to those in healthy controls. METHODS: We compared 194 patients with the indeterminate form of Chagas disease to 72 age-matched healthy individuals. We considered p-values <0.05 to be statistically significant. RESULTS: TDI analysis of the right ventricular (RV) showed lengthened isovolumic relaxation time (IRT) and higher RV index of myocardial performance (RIMP) and left ventricle (LV) index of myocardial performance (LIMP) in the Chagas group than in the control group, indicating RV and LV systolic and diastolic myocardial damage. TDI analysis of the myocardial velocities of the interventricular septum and the lateral wall of the LV also showed a systolic and diastolic myocardial damage. CONCLUSIONS: The study results demonstrated early LV systolic and diastolic myocardial damage in the RV and LV in patients with the indeterminate form of Chagas disease by TDI. These early findings of RV and LV dysfunction may help identify patients who will progress to heart failure during the disease course. TDI should be included in initial patient evaluations because it allows adequate follow-up and treatment.

Use of tissue doppler imaging for the early detection of myocardial dysfunction in patients with the indeterminate form of Chagas disease

Abstract INTRODUCTION: Chagas disease is one of the most common diseases in Latin America and heart involvement is the main cause of death. This study aimed to determine differences in tissue Doppler imaging (TDI) parameters in the assessment left and right ventricular function in patients with the indeterminate form of Chagas disease compared to those in healthy controls. METHODS: We compared 194 patients with the indeterminate form of Chagas disease to 72 age-matched healthy individuals. We considered p-values <0.05 to be statistically significant. RESULTS: TDI analysis of the right ventricular (RV) showed lengthened isovolumic relaxation time (IRT) and higher RV index of myocardial performance (RIMP) and left ventricle (LV) index of myocardial performance (LIMP) in the Chagas group than in the control group, indicating RV and LV systolic and diastolic myocardial damage. TDI analysis of the myocardial velocities of the interventricular septum and the lateral wall of the LV also showed a systolic and diastolic myocardial damage. CONCLUSIONS: The study results demonstrated early LV systolic and diastolic myocardial damage in the RV and LV in patients with the indeterminate form of Chagas disease by TDI. These early findings of RV and LV dysfunction may help identify patients who will progress to heart failure during the disease course. TDI should be included in initial patient evaluations because it allows adequate follow-up and treatment.

Twenty Years of Clinical Experience with Cardiac Myxomas: Diagnosis, Treatment, and Follow Up.

BACKGROUND: Cardiac myxomas are the most frequent cardiac tumors. Although histologically benign, in some cases myxomas may be lethal, due to impairment of cardiac dynamics and their thromboembolic potential. The study aimed to assess the clinical presentation of cardiac myxomas and their correlation with echocardiographic features and to describe the perioperative results and long-term outcome of surgically treated patients. METHODS: A prospective study of 53 patients with cardiac myxomas who were operated the Hospital Argerich, followed clinically and with echocardiography from 1993 until 2013. All patients underwent echocardiographic studies. RESULTS: The patient's mean age was 53 ± 16 years (62.3% were women). The most common findings were dyspnea followed by embolic events. Most tumors were localized in the left atrium (77.4%), mainly in the fossa ovalis (63%). Mean size of the tumors was 4.76 x 3.50 cm. Tumors were generally mobile (88%) and went beyond the valve plane, causing mild mitral or tricuspid valve obstruction (58%) and dilation of the respective atrial chamber. Patients whose tumors were obstructive had higher pulmonary artery systolic pressures (50 vs 33 mmHg p < 0.01). According to the echocardiographic appearance 67% of tumors had a smooth surface and the remaining 32% had a villous surface. All patients with embolic manifestations had tumors with a villous surface. CONCLUSIONS: Clinical presentation relates to the ultrasound characteristics of myxomas. Smooth tumors are larger, occur with obstructive symptoms, and benefit from an elective surgery, whereas villous myxomas entailed a high embolic risk and require prompt surgical treatment.

Papillary Fibroelastoma of the Left Ventricle in a Radiation-treated Cancer Patient.

We present the case of a 69-year-old female patient with a history of endometrial carcinoma in 1996, who underwent a total hysterectomy and bilateral adnexectomy. The patient also received chemotherapy and mediastinal radiotherapy followed by cancer remission. Ten years later she presented with heart failure and her Doppler-echocardiogram showed severe mitral regurgitation with pulmonary hypertension and a papillary fibroelastoma in the left ventricle. In 2011, she underwent a mitral valve replacement with a biological prosthesis and the pathology exam revealed valve damage consistent with radiotherapy- induced changes and confirmed the presence of a papillary fibroelastoma. This unusual mechanism of papillary fibroelastoma should be disseminated among cardiology physicians and in patients who have survived for long periods after radiotherapy. It is important to remember that cardiac complications may indeed occur, and the treating physician is responsible for detecting them.

Speckle tracking echocardiography to assess regional ventricular function in patients with apical hypertrophic cardiomyopathy.

AIM: To explore regional systolic strain of midwall and endocardial segments using speckle tracking echocardiography in patients with apical hypertrophic cardiomyopathy (HCM). METHODS: We prospectively assessed 20 patients (mean age 53 ± 16 years, range: 18-81 years, 10 were male), with apical HCM. We measured global longitudinal peak systolic strain (GLPSS) in the midwall and endocardium of the left ventricle. RESULTS: The diastolic thickness of the 4 apical segments was 16.25 ± 2.75 mm. All patients had a normal global systolic function with a fractional shortening of 50% ± 8%. In spite of supernormal left ventricular (LV) systolic function, midwall GLPSS was decreased in all patients, more in the apical (-7.3% ± -8.8%) than in basal segments (-15.5% ± -6.93%), while endocardial GLPPS was significantly greater and reached normal values (apical: -22.8% ± -7.8%, basal: -17.9% ± -7.5%). CONCLUSION: This study shows that two-dimensional strain was decreased mainly confined to the mesocardium, while endocardium myocardial deformation was preserved in HCM and allowed to identify subclinical LV dysfunction. This transmural heterogeneity in systolic strain had not been previously described in HCM and could be explained by the distribution of myofibrillar disarray in deep myocardial areas. The clinical application of this novel finding may help further understanding of the pathophysiology of HCM.

Papillary fibroelastoma: clinical and echocardiographic features and initial approach in 54 cases.

INTRODUCTION: Papillary fibroelastoma (PFE) is a benign cardiac tumor that is currently detected more often due to the technological improvements in echocardiography. OBJECTIVES: To describe the echocardiographic features of PFE and correlate them with the clinical presentation and initial treatment. MATERIALS AND METHODS: A prospective analysis of patients with a diagnosis of PFE was conducted between 2000 and 2015. We assessed the clinical history, symptoms at the time of diagnosis, echocardiographic features, and initial treatment. RESULTS: Fifty-four patients with a diagnosis of PFE by echocardiography were included. The incidence was 0.038%. Mean age was 62±16 years; 50% were male. Forty-six percent of patients had symptoms at the time of diagnosis, the most frequent of which was transient ischemic accident (TIA). Embolic episodes occurred in 31% of patients, mainly to the brain. PFEs were valvular in 70.4% of cases and multiple in 13%. Mean maximum length was 1.18±0.58 cm, and 44% were mobile. PFEs >1.5 cm were most often found in the heart valves (56.8% vs 10.8%; P=.045). There was no significant relation between size, mobility, location and number of tumors, and the presence of embolism or symptoms. Most frequent treatment was oral anticoagulation in 48.6%, followed by simple tumor resection in 42.8% of cases. CONCLUSIONS: PFE is a small tumor, predominantly valvular and benign, but entails a high incidence of cerebral embolism. The initial approach should be individualized according to clinical manifestations, comorbidities, and the experience of the surgical center.

Limitations of multimodality imaging in the diagnosis of pannus formation in prosthetic aortic valve and review of the literature.

Pannus formation is a rare complication and occurs almost exclusively in mechanical prosthetic valves. It consists of fibrous tissue that covers the surface of the prosthesis either concentrically or eccentrically, resulting in valve dysfunction. The pathophysiology seems to be associated to a chronic inflammatory process that explains the late and insidious clinical presentation. This diagnosis should be considered in patients with high transvalvular gradients on transthoracic echo, and workup should be completed with fluoroscopy and transesophageal echocardiography. Treatment is always surgical and recurrence is rare. We present a case of pannus formation in a prosthetic aortic valve and a review of the literature regarding this disorder.

Two-dimensional speckle tracking echocardiography for the assessment of atrial function.

Echocardiography is the most common diagnostic method for assessing atrial function but the technique has some limitations. Traditionally, assessment of left atrial function has been performed by measuring volumes with 2D echocardiography. Additionally, it can be assessed with transmitral Doppler and pulmonary vein Doppler. Recently, an alternative method has been incorporated, namely, measurement of myocardial deformation with color tissue Doppler-derived strain. However, this method has several limitations, such as suboptimal reproducibility, angle-dependence, signal artifacts and the fact that it only measures regional strain and does not obtain information about the curved portion of the atrial roof. To overcome these limitations in the quantification of atrial function, the use of speckle tracking echocardiography (STE) strain has been proposed. This technique is not derived from Doppler but rather from 2D echocardiography; it is angle-independent and allows one to measure global as well as regional atrial strain. In this editorial, we describe the physical and pathophysiological concepts of STE and underline the clinical usefulness of this new technique.

Pivoting system fracture in a bileaflet mechanical valve: a case report.

A leaflet escape occurred in a low profile bileaflet mechanical prosthesis manufactured by TRI-Technologies that had been implanted for 3 years in the mitral position of a 32 year old patient. The escaped leaflet had embolized and was subsequently located by an abdominal computerized axial tomography scan and ultrasound in the terminal portion of the aortic bifurcation. The embolized leaflet was removed 3 months after valve replacement surgery. In an attempt to determine the cause of the escape the retrieved embolized leaflet was investigated. Techniques employed included visual examination aided by stereo-microscopy, x-ray imaging and scanning electron microscopy. One of the ears had fractured and was missing from the leaflet. Chipping was observed at the leaflet ear position on both the inflow and outflow surfaces. Visual and SEM observations found fractographic river-lines that indicated an apparent origin at the inflow surface of the ear nearest to the straight 'B-datum' line or coaptation edge. The origin seemed to be in the radius between the leaflet ear and the leaflet body. SEM observation of the remaining intact ear showed wear marks on both the inflow and outflow sides of the leaflet ear that corresponded to the suspected origin of fracture. It is believed that the use of boron alloyed pyrolytic carbon material and the leaflet's homogeneous monolithic structural design were factors that contributed to this adverse event.

Intermittent acute aortic regurgitation of a mechanical bileaflet aortic valve prosthesis: diagnosis and clinical implications.

Intermittent aortic regurgitation (AR) is an unusual complication after a mechanical prosthetic replacement. We describe a rare case of intermittent dysfunction of a bileaflet mechanical aortic prosthetic valve in a 41-year-old man with a 21 mm Tri-technologies prosthetic valve implanted 4 years before. Transthoracic echocardiography (TTE) before discharge was normal and prosthesis-patient mismatch was ruled out. He was admitted to our hospital because of mild dyspnoea at effort. TTE revealed acute and severe intermittent AR. The patient underwent surgery, during which abnormal proliferation of subvalvular pannus overgrowth on the inflow aspect of the prosthesis was found impeding the normal closure of one of the discs of the prosthesis. The pannus formation was resected, the Tri-technologies prosthetic valve was prophylactic explanted and a 23 mm St Jude Medical bileaflet mechanical prosthesis valve was implanted. We describe the role of TTE and the limitation of the cinefluoroscopy in the diagnosis of Tri-technologies prosthetic dysfunction.

Monozygotic twins with Marfan's syndrome and ascending aortic aneurysm.

Marfan's syndrome is a hereditary connective tissue disease, in which cardiovascular abnormalities (especially aortic root dilatation) are the most important cause of morbidity and mortality. In this report, we describe two 24-year-old twins, with a history of surgery for lens subluxation and severe cardiovascular manifestations secondary to Marfan's syndrome. One of the twins suffered a type A aortic dissection, which required replacement of the ascending aorta, and the other twin had an aneurysmal dilatation of the ascending aorta (46mm) and was prescribed medical treatment with atenolol and periodic controls to detect the presence of a critical diameter (50mm) that would indicate the need for prophylactic surgery.

Acute mitral valve dysfunction due to leaflet escape in a Tri-technologies bileaflet mechanical valve.

Acute prosthetic valve dysfunction due to leaflet escape is a mode of structural valve failure of mechanical prostheses which is associated with a high mortality. In this report, we describe the case of a 32-year-old patient, who underwent mitral valve replacement with a Tri-technologies bileaflet valve three years ago, and was admitted to the hospital on August 2005, in cardiogenic shock. He discontinued oral anticoagulation therapy four months ago. Transthoracic and transesophageal echocardiograms showed acute-onset massive mitral regurgitation with normal left ventricular function. The patient underwent emergency surgery, during which one leaflet was found to be absent and the other leaflet was fixed due to prosthetic thrombus.

Echocardiographic evaluation of mitral valve repair by modified "edge to edge" technique.

The "edge to edge" or "double-orifice" technique is an alternative surgical option of mitral valve repair to treat mitral regurgitation. Echocardiography is very useful to evaluate the postoperative valve function, but since this technique is not frequently used, there is little experience about its echocardiographic features, which are different from those of the classic mitral valve repair. In this report, we present a patient who underwent this repair with a modified approach called "triple-orifice technique" and was evaluated by transthoracic and transesophageal echocardiography.