Heart Myxomas Research Articles

Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia)

Carney complex is a rare autosomal dominant condition that manifests itself as a combination of lentiginosis, heart and skin myxomas, primary pigmented micronodular adrenocortical hyperplasia with ACTH-independent hypercorticism, calcifying Sertoli cell testicular tumours, schwannomas, thyroid and breast tumours, and other neoplasms. A total of 400 patients presenting with this pathology has thus far been described worldwide. 75% of the patients with Carney complex were found to have mutations in the gene encoding for the regulatory alpha-subunit of proteinkinase A (PRKARIA). The present paper presents three cases of Carney syndrome diagnosed in adolescents. Two new mutations in the PRKARIA gene were identified (c.1111_1112insC (pp.Q370fsX11) and c.1016T>A (p.339V>D)). One of the patients had adrenal adenoma. To the best of our knowledge, it is the first case of benign adrenal tumour greater than 2 cm in size in the patient with Carney complex.

Surgical treatment for heart myxomas

According to unselected autopsy data, primary cardiac tumours are a rare entity. About 80% of the tumours are benign and nearly half of these are myxomas. In clinical practice, when diagnosis of this pathological entity is ascertained, decision for surgical treatment is made in order to prevent thromboembolism and obstruction of the valvular apparatus. Surgical resection including total tumour removal is accompanied by low perioperative mortality. The recidive rate is low in sporadic cases. However, in familial syndrome groups, such as the Swiss-Carney syndrome, the recurrence rate is higher.

Impact of heart myxoma localization upon its clinical course and outcome

Primary heart tumors are very rare. They can be benign and malignant. Benign ones make about two thirds of all heart tumors. However, they are benign only by their biologic characteristics, but potentially malignant by their localization. About three forths of benign tumors are myxomas. Their growth is usually slow and they can be for a long time silent, particularly if they do not compromise vital functional parts of the heart. Myxomas grow in the atria, mostly in the left one and very rarely in the ventricles. We presented two patients with myxomas in the left, and, in the right atrium which are representative samples of the most common localization of heart myxoma considering previous knowledge of these tumors. Analysis of the clinical course in the two presented patients with characteristic localizations showed general characteristics of the clinical course of heart myxoma. The patients did not have characteristic symptoms for a rather long period of time and the findings obtained by standard examinations did not raise suspicion of heart tumor. Pulmonary symptomatology in one patient and cardial in the other, when tumor had already occupied almost the entire atrium, suggested necessity of cardiologic examination. Indication for operation was in both patients confirmed after performed echocardiography, computed tomography of the thorax and angiography with ventriculography. The size of the removed atrial tumors and their localization explained some of the patients' troubles, but it was also amazing that they had not caused more serious problems. Operation as the only method of treatment was successful in both female patients and its effect was permanent. At annual controls neither recurrence of the tumor nor troubles possibly associated with it were observed. Patients with heart myxoma usually pass through asymptomatic or oligosymptomatic phase, but when troubles become manifested, they do not much differ from those due to other causes. For this reason this tumor can be diagnosed just when complications caused by its localization and growth develop. Modern cardiologic diagnostics, primarily preventive non-invasive echocardiography, enables timely diagnosis and removal of the tumor because only then it may take a name benign tumor.

Diagnosis and results of treatment of heart myxoma

Myxoma is the most common benign primary cardiac neoplasm, and usually originates from the left atrial septum. Early diagnosis of cardiac myxomas depends on a high index of a clinical suspicion. Surgical management must be done as soon as possible after diagnosis. The aim of this retrospective study was to present diagnostics and treatment outcome data of 61 patients with cardiac myxoma treated in the Military Medical Academy, Belgrade during a 49-years period. Intra-hospital diagnosis was established in all the patients by the cardiologist. Diagnostic methods were various, in dependence on the examination period and suspected diagnosis. Within a 49-years period (1961-2009) heart myxoma was diagnozed and treated in 61 patients in the Military Medical Academy, Belgrade. Most of the operated patients were females (38 or 62.3%). The operated patients were 19-68 years old. Average age of all the patients was 47.9%. The great majority of them (98.4%) had atrial, and only one operated patient had ventricular myxoma. In 13 (21.3%) of the patients heart myxoma was found out accidentally due to no previous cardiologic symptomatology. In most patients (27.44%) symptomatology was presented as thromboembolic disease. Because of the suspected ventricular myxoma in one patient, the patient was operated on, but Hodgkin's lymphoma was found out which, according to the subsequent course of the disease, could be justifiably recognized as primary heart lymphoma. This study presented brief descriptions of the course of the disease in 4 patients with myxomas in each of the cardiac cavities. The only diagnostic difficulty in cardiac myxoma is due to its asymptomatic and oligosymptomatic presence within the longer period of time, namely, its growth period. Echocardiography should be the standard method of cardiologic examination of these patients, which could considerably contribute to early diagnosis and treatment of heart myxoma. Surgical extirpation of myxoma is the only and very successful therapeutic method.

Carney complex and lentiginosis

Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine overactivity,' Carney complex (CNC) is known as an autosomal dominant multiple neoplasia syndrome involving skin and cardiac myxomas, pigmented skin lesions and endocrine tumors. Pigmented cutaneous manifestations in CNC are important diagnostically because they can be used for the early detection of the disease and, thus, the prevention of life-threatening complications of CNC related to heart myxomas and endocrine abnormalities. Specific for the disease skin lesions are present in more than half of the CNC patients. A major challenge is to distinguish pigmented skin lesions associated with CNC from other skin pathology, and thus accurately estimate the risk of cancer in affected patients; curiously, patients with CNC do not appear to have predisposition to skin cancers whereas this is not the case with other genetic syndromes associated with melanotic and other cutaneous lesions. In this paper, we review the current knowledge on cutaneous pathology associated with CNC and the most recent data on the molecular basis of the disease.

A case of Carney complex

Carney complex is a rare syndrome characterized by myxomas, skin pigmentation and endocrine adenomas. We report a case of Carney complex in a 26‐year‐old man who exhibited skin myxomas on the buttocks, abdomen and neck, and spotty skin pigmentation on the lips. Past medical history revealed that surgical excisions of heart myxomas had been performed twice and calcifications of the testes had been noted.

The pathobiologic spectrum of Schwannomas.

In terms of their morphology, clinical associations and behavior, peripheral nerve sheath tumors are among the most varied of human neoplasm. Not surprisingly, such tumors are subject to frequent misdiagnosis. This is particularly true of the spectrum of schwannomas which include: a) conventional schwannoma, a histologically benign tumor which, on occasion, is destructive of surrounding osseous structures, b) the relatively recently described cellular schwannoma, a tumor that histologically simulates malignant peripheral nerve sheath tumor (MPNST), c) plexiform schwannoma which, particularly in cellular form and when occurring in childhood, simulates MPNST, and d) melanotic schwannoma which is often mistaken for melanoma. The psammomatous form of the latter is often associated with Carney complex, a rare heritable disorder that: a) includes cutaneous lentigines, b) myxomas of skin, subcutaneous tissue, and heart, c) and endocrine neoplasms. The tendency to misdiagnose schwannomas and to overestimate their grade makes schwannomas worthy of note. Herein, we discuss the four major schwannoma variants, their essential clinicopathologic features, and differential diagnosis. The distinction from MPNST is given particular attention.

Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).

Carney complex (CC) is a familial multiple neoplasia and lentiginosis syndrome, transmitted in an autosomal dominant manner. It is the only familial form of cardiac and skin myxomas known and includes endocrine neoplasms causing Cushing's syndrome [primary pigmented nodular adrenocortical disease (PPNAD)] and acromegaly (GH-producing adenoma). The molecular defect leading to CC remains unknown, but was recently mapped to chromosome 2p16 by linkage analysis. This region has exhibited cytogenetic aberrations in atrial myxomas from patients with CC and harbors the hMSH2 and hMSH6 genes, which are involved in the preservation of microsatellite length stability of replicating human cells. In the present study, we examined 15 tumor and normal tissue specimens from 13 patients with CC [GH-producing adenoma (n = 1), adrenal tumors (PPNAD, n = 8), thyroid cancer (n = 1), normal adrenal gland (n = 1)] and 4 cultured cell lines [heart myxoma (n = 3) and eyelid myxoma (n = 1)]. Chromosome analysis was obtained by standard cytogenetic techniques. One of the myxoma cell lines and 3 PPNAD specimens contained multiple telomeric associations (tas). The normal adrenocortical tissue from a patient with PPNAD contained no apparent chromosomal anomalies, whereas the neighboring PPNAD tissue demonstrated tas. DNA was extracted from peripheral blood, tumor cell lines, and frozen or paraffin-embedded tissues and subjected to PCR amplification with primers from 64 microsatellite locations covering chromosomes 1 and 3-22 and 14 loci covering chromosome 2. The alterations detected were loss and gain of heterozygosity (LOH and GOH; 49% and 26%, respectively), deletions of both alleles (DEL; 10%), and microsatellite length instability (15%). GOH and LOH were the most frequent changes, with telomeric markers significantly over-represented (P < 0.05). Chromosomes 6, 11, 22, 10, and 19 demonstrated mostly LOH, GOH, or DEL in over 40% of the informative loci tested (73%, 59%, 47%, 46%, and 44%, respectively), whereas markers on chromosome 2 showed only microsatellite length instability (10%). The degree of genomic instability and its type were independent of tumor type (P > 0.1). We conclude that tumors and tumor cell lines from patients with CC demonstrate significant genomic, but not microsatellite length, instability. Thus, the CC gene(s) on chromosome 2p16 is different from the hMSH2 and hMSH6 genes and has dominant, rather than recessive, tumorigenic function. This gene(s) appears to be involved in the regulation of genomic stability of dividing cells, in particular the structure of telomeres in replicating chromosomes and/or the function of the mitotic apparatus.

Histological examination of the temporal bone in medicolegal cases of asphyxia

Histological findings of the temporal bone in 23 autopsy cases of various asphyxial fatalities were studied. The temporal bones of 12 cases who died of tumors including mammary cancer, gastric cancer, myxoma of heart and craniopharyngioma, the bones of 3 cases of heart attack and the bones of 17 cases who died of various poisoning (barbiturate, amphetamine, paraquat and alcohol) were used as controls. In drowning, the primary finding was hemorrhage in the mastoid air cells of the bilateral temporal bones. In cases of strangulation by ligature, hemorrhage and edema of the cochlear duct in the inner ear as well as hemorrhage in the mastoid air cells were demonstrated bilaterally. In contrast, congestion and edema in the mastoid air cells and inner ear were found in cases of manual strangulation but there was no hemorrhage. From these results, the histological examination of the temporal bone is useful as an adjunct procedure for diagnosing the cause of asphyxia. Differentiation between drowning, strangulation by ligature and manual strangulation may be possible by observing hemorrhages or their absence in the mastoid air cells and inner ear.

心粘液腫によるものと考えられたｓａｄｄｌｅ ｅｍｂｏｌｉｓｍの一例

心粘液腫によるものと考えられたｓａｄｄｌｅ ｅｍｂｏｌｉｓｍの一例

Bedside diagnosis of right heart myxomas through detection of palpable tumor shocks and audible plops

Bedside diagnosis of right heart myxomas through detection of palpable tumor shocks and audible plops

Unusual echographic manifestations of right and left heart myxomas

Although echocardiography has provided a useful noninvasive means for detecting cardiac myxomas, the ultrasound manifestations of these tumors may be variable. We describe our experiences with unusual echographic features encountered in left and right heart myxomas. Thus the left atrial tumor may be manifested predominantly by multiple, discrete, linear echoes behind the mitral valve, the anterior leaflet of which may exhibit an abrupt mid-systolic posterior movement. In right heart myxomatous tumor arising from the septal tricuspid leaflet and adjacent interventricular septum, the echographic characteristics include a cloud of echoes throughout the cardiac cycle in the right ventricular outflow tract which are present in the right ventricle body only during relaxation and are anterior to the tricuspid valve in early diastole. Therefore, discrete linear echoes may be the principal echographic presentation of left atrial myxoma, and special attention should be focused on all areas of the tricuspid valve and right ventricle by ultrasound in patients in whom diagnosis of myxoma is suspected.

Radiologic observations in cerebral embolization from left heart myxomas.

Cerebral embolization of tumor tissue is a well known complication in patients with left heart myxomas (11). Surprisingly, cerebral angiography has rarely been employed in evaluation, and, even in the few cases in which it has been performed (2, 3, 6, 15), little discussion of the findings and only one set of reproductions (6) are presented in the literature. The purpose of this paper is to present a short review of this subject and report 2 cases in which angiocardiographic and pathologic demonstration of left heart myxomas were coupled with cerebral angiograms showing cerebral vascular abnormalities. Review Metastatic lesions constitute 90 to 95 per cent of all cardiac tumors, but of the primary tumors approximately 50 per cent are myxomas (13, 14). About 75 per cent arise in the left atrium. The majority of the others originate in the right atrium (14), with only 4 reported in the left ventricle (7, 12, 17, 18). Few typical clinical features exist (4, 5, 8, 9). The lesion may be entirely silent clinically, or it may simulate mitral valve disease with obstruction of the mitral orifice. The friable lesions can produce embolization to many different areas (11), resembling the pictures associated with a mural thrombus or subacute bacterial endocarditis. In Aldrich and Greenwood's series onethird of left atrial myxomas were associated with systemic embolization, half of which were cerebral (1). There is a frequent association of cerebral embolization with renal, splenic, and coronary emboli. A particularly suggestive situation, not given much emphasis previously but well illustrated in the literature and in the two cases to be presented herein, is the presence of systemic embolic phenomena in young patients (9). In this respect the cerebral angiographic findings, as suggested by the two cases below, may prove extremely helpful. Case Reports Case I: A 29-year-old male was first admitted to Vanderbilt Hospital May 29, 1963, with complaints of pain and tenderness in a leg muscle for four or five months. At about the time of the beginning of the tenderness minute hemorrhagic spots appeared in the nail beds of his fingers. One week prior to admission, while the patient was doing heavy lifting, a marked whitening developed in the left second through fifth fingers and also in his right fifth finger. This lasted approximately thirty minutes and was associated with coldness of the involved fingers followed by marked hyperemia and a jabbing pain. Also of recent origin were numerous small red spots in the palms of both hands. The patient's past history was essentially normal. Positive physical findings included small splinter hemorrhages in the nail beds of both hands, absence of the right dorsalis pedis pulse, and tenderness of the fingers and both calves. Cardiac examinationwas normal except for a questionable increase in the amplitude of the second pulmonic sound.

Surgical removal of an intracavitary left ventricular myxoma.

PRIMARY intracardiac tumors of theheart are rare. The commonest primarytumor is myxoma, found almost exclusivelyin the atria, 75 or mnore occurring in theleft atrium. Mahaim' reported 200 primarycardiac tumors in 1945, from the world liter-ature up to that time. Strauss and Merliss2reviewed 480,331 autopsies from the LosAngeles County Hospital and were able toreport 8 cases of myxoma occurring in theleft atrium.Myxoma originating in the ventricles ap-pears to be extremely rare. A well-doeu-mented pathologic study of a left ventric-ular myxoma with embolic occlusion of theabdominal aorta and renal arteries was pub-lished by Young and Hunter3 in 1957. Thepatient was a 10-year-old girl diagnosed ashaving rheumatic heart disease because ofher cardiac disability and a rough mitralsystolic murmur transmitted to the axillaand over the precordium. At autopsy

A CASE OF MYXOMA OF THE HEART

A CASE OF MYXOMA OF THE HEART