Myxoma

Introduction to the SeriesGenetic disorders have characteristic cardiovascular manifestations. These cardiovascular abnormalities often are a major determinant of the morbidity and mortality in this patient population. Some characteristics are unique and can be detected with echocardiography. Drs Alizad and Seward have compiled in this series a review of genetic disorders that have recognizable morphologic and/or functional cardiovascular abnormalities. The following

Background: Mitral annular disjunction (MAD) consists of an altered spatial relation between the left atrial wall, the attachment of the mitral leaflets, and the top of the left ventricular (LV) free wall, manifested as a wide separation between the atrial wall-mitral valve junction and the top of the LV free wall. Originally described in association with myxomatous mitral valve disease, this abnormality was recently revisited by a surgical group that pointed its relevance for mitral valve reparability. The aims of this study were to investigate the echocardiographic prevalence of mitral annular disjunction in patients with myxomatous mitral valve disease, and to characterize the clinical profile and echocardiographic features of these patients.

Background
Left Ventricular Outflow (LVOT) masses are rare and raise
concern for infective endocarditis vegetations, thrombus,
and cardiac tumors. When these masses arise in the LVOT,
they can lead to symptoms of LVOT obstruction and
thromboembolism. The most common cause of a cardiac
tumor is cardiac myxoma, occurring in 0.02% of the
population, and almost exclusively arises in the atria [1].
We present two cases of large cardiac masses of different
pathology arising in the left ventricle causing LVOT
obstruction.

La tumeur cardiaque primitive est une affection rare, avec une fréquence entre 0,001 et 0,03 %. Quatre-vingts pour cent sont des tumeurs bénignes et, parmi elles, 70 % sont des myxomes. Les autres tumeurs bénignes sont les fibroélastomes, rhabdomyomes, fibromes, angiomes et lipomes. Quatre-vingt-quinze pour cent des tumeurs malignes sont des sarcomes, les 5 % restants des lymphomes. Les métastases cardiaques sont plus fréquentes que les tumeurs primitives. Le diagnostic est fait par échocardiographie, scanner ou résonance magnétique. La chirurgie est le traitement de choix pour les tumeurs bénignes et les sarcomes quand ils sont localisés, la chimiothérapie pour les sarcomes avec une extension locale ou à distance. La radiothérapie associée à la chimiothérapie pour les lymphomes. Les tumeurs bénignes ont un excellent pronostic. La survie moyenne d'un sarcome est de 11 mois, celle des lymphomes de cinq ans.

A 69-year-old female with a previous hemisternectomy for recurrent phyllodes tumour was referred for echocardiography because of progressive dyspnoea, orthopnea, and a diastolic mitral rumble on auscultation. Transthoracic echocardiography revealed a large left atrial mass. Although a diagnosis of myxoma was likely, there was concern that this was a cardiac metastasis. A tissue diagnosis was mandatory before further thoracic surgery could be considered. This was obtained via a trans-septal puncture using transoesophageal echocardiographic guidance. Histology confirmed a diagnosis of myxoma, and our patient underwent successful surgery. This case highlights the importance of obtaining accurate tissue diagnosis and of excluding metastatic disease in patients with a cardiac mass and a history of tumour, prior to deciding whether surgical excision is warranted.

Comparable pathological changes in the mitral valve have been described in dogs, pigs and human patients with myxomatous mitral valve disease (MMVD), i.e., primary mitral valve prolapse. The progressive myxomatous changes are probably a response to repeated impact on the leaflets, and endothelial stress or damage probably plays a central role in the pathogenesis. Little, however, is known about the vasoactive substances that mediate the subendothelial changes. The aim of this study was to investigate the expression of nitric oxide synthase (NOS) in canine mitral valve leaflets and to relate the findings to MMVD changes. The mitral valve was taken post mortem from 12 dogs (six males and six females) and a whole valve NADPH (the reduced form of nicotinamide-adenine dinucleotide phosphate) diaphorase (NADPH-d) reaction was performed. Macroscopical (semiquantitative) and microscopical (computer image analysis) evaluations of the staining due to NADPH-d activity were performed at four specific areas of the valve and related to microscopical signs of MMVD and gross signs of thickening or prolapse, or both. Macroscopically, the NADPH-d colour grade was correlated with the degree of MMVD ðP ¼ 0:01Þ: In addition, endothelial NADPH-d staining intensity was correlated with macroscopical signs of disease ðP ¼ 0:004Þ as well as with collagen degeneration ðP ¼ 0:008Þ and deposition of mucopolysaccharides ðP ¼ 0:02Þ: Age, gender and specific area of the valve did not seem to influence the NADPH-d activity. In conclusion, increased NADPH-d activity, suggesting increased NOS expression, was found in areas of the mitral valve with myxomatous changes. This indicates that nitric oxide (NO) may play a role in the pathogenesis of MMVD in dogs. q

Background: Heart tumors are rare lesions with variegated histological types. Their clinicopathological features could be more comprehensively categorized. Methods: This is a 19-year retrospective study of 17 infants/toddlers (b2 years of age) and 42 patients aged between 14 and 79 years (mean =51.5) in a surgical center. Results: Congenital tumors (n=17; 29%), including rhabdomyomas (n=9), ventricular fibromas (n= 6), and hemangiomas (n =1), required surgery mainly because of mass effect. Familial myofibromatosis was the only embolic congenital lesion. Acquired benign tumors (n = 28; 47%) included myxomas (n = 21), fibroelastomas (n = 3), myofibroblastic inflammatory tumors (n =2), and lipomas (n=2). Eight (29%) were revealed by systemic embolization. These benign noncongenital tumors were all treated by complete resection, except for an incompletely resected lipoma of the mitral valve. Postoperative arrhythmia (n = 1) and pericardial effusion (n=3) were the only complications. Primary sarcomas (n=8; 14%) were mostly vascular tumors (five of eight), and patients with high-grade tumors had a mean survival of 15 months (n = 5). Cardiac metastases (n = 6; 10%) were from carcinomas (n = 3) or sarcomas (n=3); apart from a necrotic metastasis, all patients died (mean survival of 6 months). Conclusions: This study shows that, regardless of patients' age, heart tumors can be classified as: (a) congenital lesions, which are spontaneously nonprogressive or regressive lesions possibly requiring surgery mainly because of mass effect; (b) acquired benign tumors, which are lesions requiring surgery often because of embolization risk; and (c) primary and secondary malignant tumors, which are lesions with globally poor prognosis but with some indications for resection. D

Thirteen cases with myxomatous changes of the corneal stroma have been reported to date. We report six additional cases with clinical, histopathological, and immunohistochemical data. The clinical appearance is most often a gelatinous, whitish elevation with insidious onset. Histopathologically, there are inconspicuous spindle- and stellate-shaped cells in a loose, myxoid matrix. The typical location is in the anterior cornea beneath the epithelium, with varying degrees of extension into the stroma. Vimentin and smooth-muscle actin immunohistochemical stains are characteristically positive, and staining occasionally may be seen with muscle-specific actin, whereas CD34 staining usually is negative. In most cases, myxomatous changes are a degenerative process involving transformation of stromal keratocytes into cells with prominent secretory activity and myofibroblastic differentiation. Most occur in corneas with a history of ocular disease or trauma that disrupts Bowman's layer. We suggest labelling lesions with these features as "myxomatous corneal degeneration." So-called "primary corneal myxomas" also exist where there is no significant history. It remains unclear whether the myxomatous changes in such lesions are neoplastic or degenerative. Myxomatous corneal changes are likely under-recognized and under-diagnosed.

Introduction: Carney complex is a multiple neoplasia syndrome involving cardiac, endocrine, neural and cutaneous tumors with a variety of pigmented skin lesions. It has an autosomal dominant mode of inheritance. Approximately 7% of cardiac myxomas are related to the Carney complex. Myxomas that occur as part of the Carney complex affect both sexes with equal frequency. Cardiac myxomas with Carney complex are reported mostly in the left side of the heart and are less common on the right side. As per our review, this is the first reported case of Carney complex with right ventricle cardiac myxoma. Case presentation: We present a rare case of recurrent cardiac myxoma in a patient later diagnosed to have Carney complex. A 46-year-old Caucasian man with a history of thyroid hyperplasia came to out-patient cardiology department with new onset atrial fibrillation. A transthoracic echocardiogram revealed a right ventricular mass attached to his interventricular septum, which was later seen on a transesophageal echocardiogram and cardiac magnetic resonance imaging. He underwent resection of the ventricular mass which on pathology revealed myxoma. He later developed skin lesions, pituitary adenoma and Sertoli cell tumor suggesting Carney complex. Two years later he developed a new mass within his right atrium which was later resected.

Aggressive angiomyxoma is a rare tumour that typically occurs in the perineum in women of reproductive age. A small number of cases occurring in men have been reported, all of which were located in the low pelvis, perineum or scrotum. While benign, the tumour is locally infiltrative and consequently has a high rate of local recurrence following surgery; therefore, accurate preoperative diagnosis is important. The characteristic location of these tumours in the low pelvis or perineum has led to speculation that aggressive angiomyxomas arise from a mesenchymal cell that is unique to the perineum. We describe a case of aggressive angiomyxoma arising in the thigh of a 54-year-old man, which we believe is the first reported instance of this rare neoplasm occurring remote from the pelvis or perineum in a male patient. Cross-sectional imaging demonstrated a well-defined mass that had low density on CT and high intensity on fluid-sensitive MR sequences. Biopsy was non-diagnostic and excision was performed. At histological analysis, the tumour exhibited the characteristic features of aggressive angiomyxoma, with bland spindle cells and large, hyalinised blood vessels in a hypocellular myxoid matrix. Extensive immunohistochemical staining further supported the diagnosis. While the imaging features of these tumours are non-specific and suggestive of myxoid neoplasms, the diagnosis should be considered whenever biopsy of a myxoid-appearing mass yields hypocellular, non-diagnostic material, despite adequate sampling.

Mitral annular disjunction is a structural abnormality of the mitral annulus fibrosus described by pathologists in association with mitral leaflet prolapse and defined as a separation between the atrial wallmitral valve (MV) junction and the left ventricular attachment allowing for hypermobility of the MV apparatus. The transesophageal echocardiographic characteristics of this abnormality have not been previously described. In patients undergoing MV repair for myxomatous MV degeneration and evaluated using a standardized transesophageal echocardiographic protocol, annular disjunction (mean value 10 ؎ 3 mm) was seen at the base of the posterior leaflet in 98% of patients with advanced, and in 9% of patients with mild/moderate MV degeneration. There was a significant correlation between the magnitude of disjunction and the number of segments with prolapse/flail (r ‫؍‬ 0.397, P ‫؍‬ .001). We found annular disjunction to be a common component of MV apparatus in advanced MV degeneration. Its recognition on transesophageal echocardiography is important to facilitate optimal MV repair. The modification of the repair technique allows surgical correction of the annular disjunction, which seems to optimize long-term results in these challenging cases. (J Am Soc Echocardiogr

Myxomas are benign mesenchymal tumors, which rarely develop in the breast. Histologically, stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm are scattered in the myxoid stroma. We present a case of this rare type of breast tumor with sonographic and mammographic findings.

Acute myocardial infarction is a rare form of presentation in patients with left atrial myxoma. With wider availability of echocardiography, more and more patients with atrial myxomas will be diagnosed. This report describes a patient with left atrial myxoma who presented features of acute myocardial infarction and had surgical removal of LA myxoma.

Sarcomas infrequently develop in osseous sites of fibrous dysplasia. We report a patient with Mazabraud's syndrome (polyostotic fibrous dysplasia and soft tissue myxomas) complicated by the development of osteogenic sarcoma in a bone affected by fibrous dysplasia. This is the third case of osteosarcoma within the small population of reported patients with Mazabraud's syndrome. There may be an increased incidence of malignant transformation in these individuals' dysplastic bones above that associated with patients suffering from fibrous dysplasia alone.

We report the case of 31-year-old man who was admitted for cerebellar ischemia. The echocardiography showed an intraventricular mass, mobile with the cardiac activity compatible with a thrombus or a myxoma. He successfully underwent a video-assisted removal of the mass, through the mitral valve

Hydatid cyst in the heart is uncommon, with cardiac involvement occurring in about 0.4 -2% of all hydatid infestations. The right ventricle is only rarely involved accounting for 8% of cases. We report a case of a hydatid cyst located in the right ventricle involving the posterior papillary muscle requiring tricuspid valve excision.

Cardiac myxoma usually occurs as a solitary mass, but occasionally develops as part of a familial syndrome, the Carney complex (CNC). Two thirds of CNC-associated cardiac myxomas exhibit mutations in PRKAR1A. PRKAR1A mutations occur in both familial and sporadic forms of CNC but have not been described in isolated (nonsyndromic) cardiac myxomas. A total of 127 consecutive cardiac myxomas surgically resected at Mayo Clinic (1993 to 2011) from 110 individuals were studied. Clinical, radiologic, and pathologic findings were reviewed. Of these, 103 patients had isolated cardiac myxomas, and 7 patients had the tumor as a component of CNC. Age and sex distributions were different for CNC (mean 26 y, range 14 to 44 y, 71% female) and non-CNC (mean 62 y, range 18 to 92 y, 63% female) patients. PRKAR1A immunohistochemical analysis (IHC) was performed, and myxoma cell reactivity was graded semiquantitatively. Bidirectional Sanger sequencing was performed in 3 CNC patients and 29 non-CNC patients, to test for the presence of mutations in all coding regions and intron/exon boundaries of the PRKAR1A gene. IHC staining showed that all 7 CNC cases lacked PRKAR1A antigenicity and that 33 (32%) isolated cardiac myxomas were similarly nonreactive. Of tumors subjected to sequencing analysis, 2 (67%) CNC myxomas and 9 (31%) non-CNC myxomas had pathogenic PRKAR1A mutations. No germline mutations were found in 4 non-CNC cases tested. PRKAR1A appears to play a role in the development of both syndromic and nonsyndromic cardiac myxomas. Routine IHC evaluation of cardiac myxomas for PRKAR1A expression may be useful in excluding a diagnosis of CNC.

Primary cardiac tumours are rare, and metastases to the heart are much more frequent. Myxoma is the commonest benign primary tumour and sarcomas account for the majority of malignant lesions. Clinical manifestations are diverse, non-specific, and governed by the location, size, and aggressiveness. Imaging plays a central role in their evaluation, and familiarity with characteristic features is essential to generate a meaningful differential diagnosis. Cardiac magnetic resonance imaging (MRI) has become the reference technique for evaluation of a suspected cardiac mass. Computed tomography (CT) provides complementary information and, with the advent of electrocardiographic gating, has become a powerful tool in its own right for cardiac morphological assessment. This paper reviews the MRI and CT features of primary and secondary cardiac malignancy. Important differential considerations and potential diagnostic pitfalls are also highlighted.

A patient undergoing successful excision of a right atrial myxoma arising from the inferior vena cava is reported. The rarity of this case prompted a review of the literature in which only 2 other patients with a right atrial myxoma originating from inferior vena cava tissue were found.

A case of primary myxoma of the lung is presented. The patient is a 70-year-old woman who presented with a history of dyspnea, cough, and mild chest discomfort. Chest radiographic studies disclosed the presence of a well-marginated nodule in the left upper lobe. A wedge resection of the tumor mass was performed. The specimen contained a tan-gray, soft, well-circumscribed tumor nodule of approximately 1.8 cm in greatest dimension. Histologically, the tumor was characterized by a well-demarcated lesion, composed of loose spindle and stellate cells embedded in a myxoid matrix, containing thin-walled vessels. Immunohistochemical studies showed the cell to be negative for S-100, keratin, desmin, smooth muscle actin, and HMB-45. Vimentin stain showed positive staining in some of the stellate cells. No evidence of recurrence or metastatic disease was observed after 18 months.

Myxomas are the most common type of primary cardiac tumors. The aim of this study was to analyze the clinical forms of presentation of cardiac myxoma, the postoperative evolution, and the possibility of recurrence and tumoral embolism. From July 1992 to March 1999, 31 patients with myxoma were studied. Cell cycles (ploidy pattern of the tumoral DNA) were studied in 12 patients to evaluate the risk of recurrence and tumoral embolism. The most frequent clinical manifestations were constitutional symptoms (74%), dyspnea (45%), and embolism (41%). Smaller-diameter myxomas correlated independently with tumoral embolism (45%). The in-hospital mortality was 3.2%, no deaths were observed during follow-up (mean: 4.8 years). No patients had clinical or echocardiographic signs of tumoral recurrence. Patients with tumoral embolism (n = 8) were compared with patients without embolism (n = 4). Patients who suffered embolism had higher S phase > 7 and/or DNA index > 1.2 (4/4 patients [100%],...

A 57-year-old woman had suffered from migraine with aura since childhood. Once or twice per month she experienced visual disturbances starting in the right visual field lasting about 30 min that were followed by strong headaches for 2-3 days accompanied by nausea.

We compared the efficacy of echocardiography (ECHO) and magnetic resonance imaging (MRI) for evaluating intracardiac masses. Over an 8-yr period, 28 patients, 21 males, 7 females, 16 days–60 years of age (mean 25 years) with a suspected intracardiac mass on ECHO (transthoracic in all; transesophageal in 9) underwent an MRI examination. Five patients had a contrast-enhanced MRI. ECHO and MRI were compared with respect to their technical adequacy, ability to detect and suggest the likely etiology of the mass, and provide additional information (masses not seen with the other technique, inflow or outflow obstruction, and intramural component of an intracavitary mass). With MRI, the image morphology (including signal intensity changes on the various sequences) and extracardiac manifestations were also evaluated. The diagnosis was confirmed by histopathology in 18, surgical inspection in 4, by follow- up imaging on conservative management in 5, and by typical extracardiac manifestations of the disease in 1 patient. Fifteen (54%) patients had tumors (benign 12, malignant 3), 5 had a thrombus or hematoma, and 4 each had infective or vascular lesions. Thirty-four masses (13 in ventricle, 11 septal, 7 atrial, 2 on valve and 1 in pulmonary artery) were seen on MRI, 28 of which were detected by ECHO. Transthoracic ECHO (TTE) and MRI were technically optimal in 82% and 100% of cases, respectively. Nine patients needed an additional transesophageal ECHO (TEE). Overall, MRI showed a mass in all patients, whereas ECHO missed it in 2 cases. In cases with a mass on both modalities, MRI detected 4 additional masses not seen on ECHO. MRI suggested the etiology in 21 (75%) cases, while the same was possible with ECHO (TTE and TEE) in 8 (29%) cases. Intramural component, extension into the inflow or outflow, outflow tract obstruction, and associated pericardial or extracardiac masses were better depicted on MRI. We conclude that MRI is advantageous over a combination of TTE and TEE for the detection and complete morphological and functional evaluation (hemodynamic effects) of cardiac masses.

Background: Atrial myxomas are the most common primary cardiac tumors. They are usually small or moderate in size by the time of the diagnosis, exhibiting non specific cardiac or systemic symptoms, and are most frequently soft and friable without microscopic signs of ossification. We describe herein an extremely rare case of an asymptomatic giant left atrial myxoma with angiographic neovascularization and ossification.

The complications linked directly to coronary artery catheter itself are very rare. We presented a case in which the broken right coronary artery catheter was successfully removed from the ascending aorta. The removal of catheter was accomplished via an aortic incision, which was created for saphenous vein graft in the site of anastomosis during an emergency coronary artery bypass graft surgery. We believe that a broken catheter in the aorta is a catastrophic event, which could be removed safely in the operating room even with concomitant bypass surgery.

Between 1961 and 1985, 14 patients (9 males, 5 females; mean age 42.3 +/- 7.26 years) underwent surgery for excision of cardiac myxoma. Origin of the neoplasm was left atrium in all patients. In the last 7 cases diagnosis was obtained by echocardiographic examination. The clinical manifestations were dyspnea in 8 cases, palpitation in 5 and neurological symptoms in 3. One patient with concomitant mitral and aortic incompetence died on the 13th postoperative day because of low-output syndrome. All 13 operative survivors are alive and well without echocardiographic evidence of neoplastic recurrence at a follow-up ranging from 7 to 31 years. These results indicate a low incidence of recurrence with a complete tumor excision even without its extension to the normal atrial endocardium.

Cardiac myxomas are primary cardiac tumors. In some cases of atrial myxoma, the standard left atriotomy alone does not enable safe tumor resection and easy access to the mitral valve. We report the cases of 2 patients with huge left atrial myxomas associated with severe mitral valve regurgitation who underwent an inverted T-shaped biatrial incision for tumor excision and mitral repair. This approach reduces tumor fragmentation and permits good mitral valve exposure.

We present eight adult patients with noncompaction (four with isolated left ventricular noncompaction and four with combined left and right ventricular noncompaction) in whom live three-dimensional transthoracic echocardiography (3D TTE) demonstrated multiple, prominent myocardial trabeculations, deep intertrabecular recesses communicating with the ventricular cavity, and a typical honeycombing appearance. In the four patients with combined right and left ventricular noncompaction, very extensive trabeculations in the right ventricle were identified, much more than in normal or hypertrophied right ventricles. Five of the eight patients were not definitively identified to have noncompaction on two-dimensional (2D) TTE, but the diagnosis was made with 3D TTE. These cases demonstrate the potential usefulness of 3D TTE as a supplement to 2D TTE in the assessment of noncompaction. (ECHOCARDIOGRAPHY, Volume 22, August 2005) left ventricular noncompaction, right ventricular noncompaction, cardiomyopathy, live threedimensional transthoracic echocardiography, heart failure Noncompaction of the ventricle is a rare disorder of endomyocardial morphogenesis characterized by echocardiographic findings consisting of multiple, prominent myocardial trabeculations and deep intertrabecular recesses communicating with the ventricular cavity. 1-4 The disease affects the left ventricle, with or without right ventricular involvement, and may result in both systolic and diastolic ventricular dysfunction with frequent progression to clinical heart failure, and potential complications including arrhythmias and thromboembolic events. 5,6 Noncompaction was initially described in children; 7 however, recent

We report on nine new cases of myxoinflammatory fibroblastic sarcoma; in six of them the location of the tumor was distal (acral), and proximal in three (forearm, arm, and thigh). Tumors varied in size from 1.5 to 18 cm, were well-circumscribed, yellow-tan, and focally myxomatous. Histologically, they were similar in appearance and showed vaguely lobular architecture and oval, spindle, and epithelioid neoplastic cells with scattered, focally aggregated inflammatory cells. In all cases, in different numbers, bizarre giant cells with large, lobulated, or multiple nuclei were also admixed, some of them morphologically imitating Reed-Sternberg cells, lipoblasts, or ganglion cells; they showed distinct nucleoli or intranuclear inclusions. Myxoid areas were always present, to different extent. Immunohistochemically, tumor cells were uniformly positive for vimentin; some cells were also positive for CD68 and CD34. Ultrastructurally, tumor cells were nondescript, consistent with fibroblastic origin. On flow cytometry, two of the examined cases showed diploid pattern with low S-phase fraction. In none of the cases, metastases were observed, in one case the tumor recurred 5 years following surgery. We conclude that myxoinflammatory fibroblastic sarcoma is a distinct soft tissue tumor of low-grade malignancy and, until now, described only in extremities, although not confined to acral sites.

Ein 59-jähriger Mann stellte sich erstmals Ende Dezember 2010 ambulant wegen Sodbrennen und Oberbauchschmerzen vor. An Vorerkrankungen waren eine essenzielle arterielle Hypertonie und eine Adipositas bekannt. Endoskopisch fand sich eine Refluxösophagitis Grad IV mit histologisch verifizierter Barrett-Schleimhaut.

The concept of retroperitoneal adenomyotic disease is born, in: An atlas of operative laparoscopy and hysteroscopy, 2nd edn, edited by Donnez J. and Nisolle M., Chapter 12, pp. 113-117. London, Parthenon. Enatsu A., Harada T., Yoshida S., Iwabe T and Terakawa N. (2000) Adenomyosi s in a patient with the Rokitansky-Kuster-Hauser syndrome. Fertility and Sterility, 73, 862-683. Mitchell C.S., Goske M.J. and Applegate K. (1999) Imaging of Mullerian anomalies, in: Congenital malformations of the female genital tract-diagnosis and management , edited by Gidwani G. and Falcone T., Chapter 4, pp. 55-57. Philadelphia, Lippincott Williams and Wilkins.