Hypothyroid cardiomyopathy: A reversible phenocopy of hypertrophic cardiomyopathy.

We present the case of a 46-year-old patient with hypothyroidism secondary to Hashimoto's thyroiditis who was admitted with decompensation in the form of myxedema. A 2-D echocardiogram shows a septal asymmetric hypertrophy, with low-voltage QRS complex in the ECG and a bull's-eye map of longitudinal strain with preserved apical strain with reduction of mid and basal strain that results in "cherry on the top" pattern, similar to the most frequent phenocopy of hypertrophic cardiomyopathy, as is the cardiac amyloidosis, and that, unlike this pathology, reverted after the patient reached the euthyroid state.

[Cardiac metastasis from primary anaplastic thyroid carcinoma]. / Metástasis cardíaca de carcinoma anaplásico de tiroides.

Cardiac neoplasms are rare entities in the clinical practice. Cardiac metastatic involvement is 20 to 40 times more frequent than the primary form, representing 95% of all cardiac tumors; however, they are frequently underdiagnosed because of their clinical and oncologic features. In this report, we present two cases of cardiac metastasis from primary anaplastic thyroid carcinoma: a 69-years-old woman with right ventricular metastasis and a 61-years-old man with right atrial metastasis. Both patients died during their hospitalization and one of them underwent an autopsy.

Las neoplasias cardíacas son entidades poco frecuentes en la práctica clínica cardiológica y dentro de éstas, la afectación metastásica es 20 a 40 veces más frecuente que la forma primaria, correspondiendo al 95% de todos los tumores cardíacos; no obstante, debido a las características clínicas y oncológicas del tumor primario, los tumores cardíacos metastásicos son habitualmente subdiagnosticados. En este trabajo se presentan dos casos de pacientes con carcinoma anaplásico de tiroides, una mujer de 69 años con metástasis en ventrículo derecho y un varón de 61 años con metástasis en aurícula derecha. Ambos pacientes fallecieron durante la internación y a uno de ellos se le realizó autopsia.

Metástasis cardíaca de carcinoma anaplásico de tiroides / Cardiac metastasis from primary anaplastic thyroid carcinoma

Resumen Las neoplasias cardíacas son entidades poco frecuentes en la práctica clínica cardiológica y dentro de éstas, la afectación metastásica es 20 a 40 veces más frecuente que la forma primaria, corres pondiendo al 95% de todos los tumores cardíacos; no obstante, debido a las características clínicas y oncológicas del tumor primario, los tumores cardíacos metastásicos son habitualmente subdiagnosticados. En este trabajo se presentan dos casos de pacientes con carcinoma anaplásico de tiroides, una mujer de 69 años con metástasis en ventrículo derecho y un varón de 61 años con metástasis en aurícula derecha. Ambos pacientes fallecieron durante la internación y a uno de ellos se le realizó autopsia.

Abstract Cardiac neoplasms are rare entities in the clinical practice. Cardiac metastatic involvement is 20 to 40 times more frequent than the primary form, representing 95% of all cardiac tumors; however, they are frequently underdiagnosed because of their clinical and oncologic features. In this report, we present two cases of cardiac metastasis from primary anaplastic thyroid carcinoma: a 69-years-old woman with right ventricular metastasis and a 61-years-old man with right atrial metastasis. Both patients died during their hospitalization and one of them underwent an autopsy.

Rapidly progressive aortic stenosis treated with transcatheter aortic valve implantation in a patient with Fabry disease: a case report.

BACKGROUND: Fabry disease (FD) is a rare lysosomal storage disease, caused by mutations in the gene encoding the enzyme α-galactosidase A (α-Gal A). Cardiac involvement is one of the main causes of death and it is characterized by progressive concentric left ventricular hypertrophy (LVH), which in most cases is symmetric. Mild thickening of the left-sided valves is seen in as many as a quarter of patients. Severe aortic stenosis is an extremely rare disorder in FD. CASE SUMMARY: In this report, we describe the case of a 57-year-old male, who was diagnosed with a cardiac variant of FD 10 years ago. Since the patient had severe LVH, he was started on enzyme replacement therapy when he was 47 years old with an intravenous infusion of 0.2 mg/kg of agalsidase alpha every 14 days. The patient remained stable and asymptomatic for 9 years, until he presented with dyspnoea in New York Heart Association functional class II-III and severe aortic stenosis (aortic valve area: 0.97 cm2) together with severe systolic dysfunction [ejection fraction (EF): 29%]. Because of the patient's comorbidities and high surgical risk, he underwent successful transfemoral transcatheter aortic valve implantation (TAVI). At 2 months following TAVI, the patient was asymptomatic and, in spite of his Fabry cardiomyopathy, the EF had increased to 45%. DISCUSSION: To our knowledge, this is the first case in the literature to demonstrate a rapid progression of aortic stenosis with severe impairment of left ventricular function and worsening in functional class in a patient with FD, who following TAVI improved his EF, with disappearance of symptoms and ventricular arrhythmias.

Clinical significance of tissue Doppler imaging in chronic Chagas disease.

INTRODUCTION: Chagas disease (ChD) is one of the main parasitic diseases in Latin-America. Its heart involvement is the most important cause of death. The aim of this study is to evaluate if Doppler Tissue Imaging (DTI) may have a predictive value for later events in subjects with chronic ChD. METHODS: we analyses DTI variables of 543 patients with chronic ChD for the evaluation of predicting factors of events. Major adverse cardiovascular events (MACE) were considered as stroke, heart failure resistant to treatment, sustained ventricular tachycardia, implantable cardioverter-defibrillator, sudden death, and cardiovascular death. The following findings were also included in total evens: heart failure, bradycardia, ventricular arrhythmia, new conduction system abnormalities, and new echocardiographic abnormalities. Multivariate analysis with logistic regression was used in order to assess the Doppler and DTI parameters predicting events. Variables with a P-value ≤ .5 in the univariate analysis were included in the multivariate analysis. RESULTS: In patients with chronic ChD, the analysis of DTI parameters showed that S' wave and E' wave of the lateral wall of the left ventricle were significant predictors of MACE (OR: 0.83; 95% CI: 0.71-0.96; P-value: .015 and OR: 0.80; 95% CI: 0.66-0.98; P-value: .031, respectively). CONCLUSIONS: This study found that patients with chronic ChD who had events showed significantly lower parameters in the DTI. What is more, this study showed that even lower DTI parameters are significant predictors of events.

Mechanical dispersion in Fabry disease assessed with speckle tracking echocardiography.

BACKGROUND: Fabry disease (FD) is a rare X-linked storage disorder caused by deficiency of the lysosomal enzyme α-galactosidase A, and it typically causes multiorgan dysfunction. The main cause of death is heart disease resulting from left ventricular (LV) diastolic dysfunction, LV systolic dysfunction, severe LV hypertrophy (LVH), and sudden death. In several cardiac disorders, LV systolic dysfunction and ventricular arrhythmias are associated with mechanical dispersion (MD). MD has until now not been studied in patients with FD. OBJECTIVE: To investigate the prevalence of MD in patients with FD. METHODS: Complete echocardiographic data and speckle tracking echocardiographic data were collected. MD is an index of inter-segmental discoordination of contraction and is defined as the standard deviation (SD) of the time-to-peak longitudinal negative strain in 17 LV segments with a value >49 milliseconds. Patients with FD were divided into the following 2 groups: group I (patients with FD but no LVH, n = 64) and group II (patients with FD and LVH, n = 25). These groups were compared with a group of healthy subjects (group III, n = 50). Parametric variables were expressed as mean ± SD, and nonparametric variables were expressed as median and inter-quartile range. A P value <.05 was considered significant. RESULTS: A total of 113 patients with FD were included in this study. Of these, 24 (21%) were excluded because of poor imaging quality or presence of comorbidities, and the final study population consisted of 89 patients (mean age of 33.5 ± 14.5 years, 64% female). Group II patients were older than group I patients (46 ± 13 years vs 27 ± 11 years, P < .0001). There was no difference in LV ejection fraction between the 3 groups. There was also no difference in MD between groups I and III (32.4 ms [26-39] vs 32 ms [26-39]). In group II, the MD in 19 patients (76%) was 56 ms (39-80). CONCLUSIONS: To the best of our knowledge, this is the first study to assess the prevalence of MD in patients with FD. MD was observed in 76% of patients with FD and LVH. The use of MD in strain echocardiography may be beneficial in the assessment of patients with FD who develop heart failure.

Bone cement cardiac and pulmonary embolism.

This case describes a complication of bone cement use. A 65-year-old male patient with back spine trauma caused by a fall, underwent a percutaneous vertebroplasty. Five years later, he consulted for palpitations, and the electrocardiogram showed supraventricular arrhythmia. A transthoracic two-dimensional echocardiography showed a hyperechogenic linear structure of 7 cm length, running from the lateral wall of the right ventricle to the right atrium through the tricuspid valve. This foreign body, which was suspicious for bone cement embolism, appeared rigid and was attached at the lateral wall of the right ventricle, with its proximal end free in the right atrium. The tip of the cement embolus was inside the myocardium of the lateral wall of the right ventricle, with risk of cardiac perforation. A fluoroscopy was performed, which confirmed the presence of cement within the right heart, with great mobility in each cardiac cycle. Chest computed tomography (CT) and multidetector CT three-dimensional reconstruction confirmed the presence of cement within the right heart. Chest CT showed two pulmonary embolisms, one in the right upper lobe and one in the left lower pulmonary lobe. This case emphasizes the risk of late clinical manifestations of cardiac and pulmonary embolism of methylmethacrylate after percutaneous vertebroplasty, suggesting that the risk of such embolism might be underestimated. We propose routine chest radiography, two-dimensional echocardiography, and chest CT after every percutaneous vertebroplasty, to detect asymptomatic cardiac and pulmonary embolism and thereby prevent serious delayed cardiopulmonary failures.

Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease.

We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy.

CoreValve prosthesis causes anterior mitral leaflet perforation resulting in severe mitral regurgitation.

Percutaneous transcatheter aortic valve replacement (TAVR) has become an alternative to surgical therapy for patients with severe aortic stenosis and high operative risk, but it is associated with specific complications. We report the case of a 72-year-old man who underwent the procedure without complications; however, 45 days after the procedure, he was admitted to the hospital with symptoms of heart failure secondary to severe mitral regurgitation. Necropsy findings showed prosthesis malposition and perforation of the anterior mitral leaflet caused by the contact of the stent of the CoreValve prosthesis (Medtronic, Minneapolis, MN). We discuss TAVR complications, specifically regarding low positioning of the prosthetic valve.

Severe mitral regurgitation after radiotherapy.

We present the case of a 69-year-old patient with a history of gynecological neoplasia and a pulmonary metastasis, who in 1996 underwent 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. In 2011, she underwent a mitral valve replacement with a biological prosthesis and the pathology exam revealed valve damage consistent with radiotherapy-induced changes. This unusual mechanism of mitral regurgitation can be demonstrated clearly by echocardiography and 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.

Double-orifice mitral valve.

We report the case of a rare congenital anomaly, a double-orifice mitral valve, in a 21-year-old woman who was asymptomatic and had no history of heart disease. Transthoracic echocardiography revealed two functionally normal orifices mitral valve of equal size. As the presentation in adulthood is rare, echocardiographers should be trained to make the appropriate diagnosis.

Complete regression of myocardial involvement associated with lymphoma following chemotherapy.

Cardiac involvement as an initial presentation of malignant lymphoma is a rare occurrence. We describe the case of a 26 year old man who had initially been diagnosed with myocardial infiltration on an echocardiogram, presenting with a testicular mass and unilateral peripheral facial paralysis. On admission, electrocardiograms (ECG) revealed negative T-waves in all leads and ST-segment elevation in the inferior leads. On two-dimensional echocardiography, there was infiltration of the pericardium with mild effusion, infiltrative thickening of the aortic walls, both atria and the interatrial septum and a mildly depressed systolic function of both ventricles. An axillary biopsy was performed and reported as a T-cell lymphoblastic lymphoma (T-LBL). Following the diagnosis and staging, chemotherapy was started. Twenty-two days after finishing the first cycle of chemotherapy, the ECG showed regression of T-wave changes in all leads and normalization of the ST-segment elevation in the inferior leads. A follow-up Two-dimensional echocardiography confirmed regression of the myocardial infiltration. This case report illustrates a lymphoma presenting with testicular mass, unilateral peripheral facial paralysis and myocardial involvement, and demonstrates that regression of infiltration can be achieved by intensive chemotherapy treatment. To our knowledge, there are no reported cases of T-LBL presenting as a testicular mass and unilateral peripheral facial paralysis, with complete regression of myocardial involvement.

Esophageal carcinoma and transthoracic echocardiography.

We report a rare case of a patient with esophageal carcinoma diagnosed using transthoracic echocardiography. This examination proved to be useful in the identification of a paracardiac mediastinal mass. Images of the esophageal carcinoma, of the stent in the esophagus, and the bubbles inside the stent generated with the ingestion of a carbonated beverage, have not been previously published. Therefore, we believe our findings may be useful to other echocardiographers.

Assessment of coronary flow with transthoracic color Doppler echocardiography in patients with hypertrophic cardiomyopathy.

BACKGROUND: Recent advances in echocardiography have allowed assessment of flow velocity in the epicardial coronary arteries of patients with ischemic heart disease, using transthoracic color Doppler echocardiography (TTDE). However, few data are available regarding coronary blood flow in patients with hypertrophic cardiomyopathy (HCM). OBJECTIVE: To assess the epicardial coronary arteries of patients with HCM. MATERIAL AND METHODS: A group of 25 patients with HCM was assessed prospectively (mean age 57 ± 21 years, 11 male) using TTDE; flow velocities in the epicardial coronary arteries were measured and compared with those obtained in 10 age- and gender-matched controls. Analysis of the diastolic spectral waveform included flow velocity integral (VTI), peak velocity, deceleration time, and deceleration slope measurements, while systolic waveform analysis included peak flow measurement and morphology assessment (positive, absent or negative). An analysis of variance (ANOVA) test was used for multiple comparisons for variables with a normal distribution, and a Kruskal-Wallis test was used for variables with non-Gaussian distribution. RESULTS: Patients with HCM exhibited an increase in diastolic flow velocity with a rapid deceleration slope and a systolic slope which was decreased, absent or reversed, compared to normal subjects. On linear regression analysis there was no correlation with the type of hypertrophy or magnitude of the intraventricular pressure gradient in patients with obstructive HCM. CONCLUSION: In patients with HCM, noninvasive assessment with TTDE revealed abnormal findings in the distal flow of the epicardial coronary arteries, very similar to those seen in the no-reflow phenomenon. These findings were independent of the type of hypertrophy and magnitude of the intraventricular pressure gradient in patients with obstructive HCM.

Two-dimensional speckle tracking echocardiography for early detection of myocardial damage in young patients with Fabry disease.

Fabry disease (FD) is characterized by left ventricular hypertrophy (LVH). Conventional echocardiography is not sensitive enough to perform the preclinical diagnosis To assess whether longitudinal myocardial strain of the left ventricle (LV), using speckle tracking, is useful to detect early myocardial involvement in FD. Forty-four patients with FD who were diagnosed with genetic testing were prospectively included and were compared to a sex-matched control group. They were divided into three groups: 22 with LVH (Group I), 22 without LVH (Group II), and 22 healthy volunteers (Group III). LV longitudinal strain was measured from the apical views. An ANOVA test was used for multiple comparisons for variables with a normal distribution, and a Kruskal-Wallis test was used for variables with non-Gaussian distribution. Longitudinal LV strain was different in the three groups: it was ≥-15% in at least one segment in all Group I patients, in 50% of patients of Group II and in no patient of Group III. Seventy percent of the segments with abnormal strain in Group II were located in the basal regions (32/46). These findings show that the presence of at least one strain value ≥-15% demonstrates subclinical myocardial dysfunction in patients with preclinical FD. Longitudinal myocardial LV strain measured with speckle tracking is a useful tool to detect early myocardial involvement in young patients with FD. This information allows the detection and treatment of myocardial dysfunction at an early stage, which is of high clinical importance.

Contrast echocardiography in the non-invasive diagnosis of giant aneurysm of the right atrial appendage.

A 57 year-old male patient was admitted to our echocardiography laboratory to rule out thrombus in left atrium before electrical cardioversion of atrial fibrillation. Transoesophageal echocardiography (TEE) demonstrated in the bicaval view, the right atrial appendage measured 10 x 5 cm, area: 42 cm(2), volume: 229 mL (Figure, left). A quick injection of 15 cc of echo-contrast fluid (shaken saline/1 cc air), delivered via an antecubital vein, showed filling the right atrial appendage aneurysm (Figure, right). Idiopathic giant congenital aneurysm of the right atrium appendage is a very rare malformation. TEE with contrast echocardiography is very useful in the non-invasive diagnosis of giant right atrial appendage aneurysm.

Left ventricular thrombus mimicking primary cardiac tumor in a patient with primary antiphospholipid syndrome and recurrent systemic embolism.

Primary antiphospholipid syndrome (APS) is a well-defined entity characterized by spontaneous and recurrent abortion, thrombocytopenia and recurrent vascular thromboses (arterial and venous). Left ventricular thrombus mimicking primary cardiac tumor with recurrent systemic embolism has not been previously reported. In this report we describe a 39 year-old man admitted to hospital presenting with left hemiparesis and a peripheral embolism. He had no history of thrombotic events. Transthoracic echocardiography showed a large, polypoid and mobile mass (4.0 x 1.2 cm) attached to the apex of the left ventricle, highly suggestive of primary cardiac tumor. The patient subsequently underwent open heart surgery. The histological examination showed an older thrombus and a fresh thrombus. Post-operative laboratory tests showed lupus anticoagulant activity, confirming the primary APS diagnosis. The patient initiated treatment with oral anticoagulation (INR levels between 2 and 3) and was discharged 29 days after surgery. At ten month follow-up, he was symptom-free with long-term anticoagulation therapy. No evidence of intracardiac mass recurrence on two-dimensional echocardiography was seen. Intracardiac thrombus has been rarely reported as a complication of primary APS. Left ventricular mass mimicking primary cardiac tumor with recurrent systemic embolism has not been previously reported. Pre-operative investigations could not distinguish such a thrombus from a cardiac tumor and the diagnosis was made post-operatively.