Multiple fusiform myxomatous cerebral aneurysms in a patient with Carney complex

Carney complex is a rare autosomal-dominant familial tumor syndrome that involves the triad of myxoma, mucocutaneous pigmentation, and endocrine overactivity. To the best of the authors' knowledge, there are no reports of multiple fusiform aneurysms coinciding with atrial myxoma. The authors report the case of a 38-year-old woman with typical Carney complex who had multiple skin myxomas, endocrine abnormalities, and multiple brownish perioral lesions. Multiple fusiform aneurysms were also discovered after the recurrence of atrial myxoma. During a follow-up period of > 10 years, there have been no angiographic changes in the aneurysms and no progression of symptoms.     

The Variations in the Immunologic Features and Interleukin-6 Levels for the Surgical Treatment of Cardiac Myxomas

Purpose In this study, we propose the existence of a relationship between cardiac myxomas and the immunologic features or interleukin-6 (IL-6), while also considering the optimal treatment of cardiac myxoma, especially “familial myxoma.” Methods In a 19-year period at our hospital, 20 patients underwent 21 operations for cardiac myxomas. The immunologic features and the IL-6 levels were measured pre-operatively in 13 cases and post-operatively in 10 cases. A case of “familial myxoma” was diagnosed based on molecular genetic analyses. Results No patients died in the hospital. The tumor size correlated with the preoperative IL-6 and/or α1-globulin values (P < 0.05). In addition, all of the immunologic features and IL-6 levels normalized by 4 weeks after surgery. “Familial myxoma” demonstrated recurrence without showing increases in either the immunologic features, inflammatory signs, or serum IL-6 levels. Conclusions Patients with cardiac myxoma should therefore be operated on immediately because the possibility that the tumor size might be large when IL-6 and/or α1-globulin values are high. In addition, cases of “familial myxoma” require careful observation and periodic echocardiography after surgery to identify any possible recurrence. Recently, molecular genetic analyses are therefore considered to be an important diagnostic tool for cardiac myxoma, especially “familial myxoma.” Our “familial myxoma” case demonstrated a C769T PRKAR1a mutation, which has also been observed in other cases of “familial myxoma.”     

Neurosurgical implications of Carney complex

OBJECT: The authors present their neurosurgical experience with Carney complex. Carney complex, characterized by spotty skin pigmentation, cardiac myxomas, primary pigmented nodular adrenocortical disease, pituitary tumors, and nerve sheath tumors (NSTs), is a recently described, rare, autosomal-dominant familial syndrome that is relatively unknown to neurosurgeons. Neurosurgery is required to treat pituitary adenomas and a rare NST, the psammomatous melanotic schwannoma (PMS), in patients with Carney complex. Cushing's syndrome, a common component of the complex, is caused by primary pigmented nodular adrenocortical disease and is not secondary to an adrenocorticotropic hormone-secreting pituitary adenoma. METHODS: The authors reviewed 14 cases of Carney complex, five from the literature and nine from their own experience. Of the 14 pituitary adenomas recognized in association with Carney complex, 12 developed growth hormone (GH) hypersecretion (producing gigantism in two patients and acromegaly in 10), and results of immunohistochemical studies in one of the other two were positive for GH. The association of PMSs with Carney complex was established in 1990. Of the reported tumors, 28% were associated with spinal nerve sheaths. The spinal tumors occurred in adults (mean age 32 years, range 18-49 years) who presented with pain and radiculopathy. These NSTs may be malignant (10%) and, as with the cardiac myxomas, are associated with significant rates of morbidity and mortality. CONCLUSIONS: Because of the surgical comorbidity associated with cardiac myxoma and/or Cushing's syndrome, recognition of Carney complex has important implications for perisurgical patient management and family screening. Study of the genetics of Carney complex and of the biological abnormalities associated with the tumors may provide insight into the general pathobiological abnormalities associated with the tumors may provide insight into the general pathobiological features of pituitary adenomas and NSTs.     

Tumorectomy with right thoracotomy for synchronous left atrial myxomas from Carney complex: report of a case

This report describes a case of synchronous left atrial myxomas from Carney complex resected through a right thoracotomy. The patient was a 30-year-old female that had previously been diagnosed with Carney complex following a genetic examination. Preoperative echocardiography showed a left atrial tumor, but intraoperative inspection revealed another tumor in the left atrium. Carney complex was first described in the 1980s and cardiac myxoma from Carney complex can occur in any cardiac chamber, presenting multiple times with postoperative recurrences, occurring at any age and without any predilection for gender, and is inherited in an autosomal-dominant manner. Treatment for cardiac myxoma from Carney complex is very important for patient mortality and morbidity and, despite the endocrine nature of the disorder, cardiologists and cardiac surgeons play an important role.     

Palatal Soft Tissue Myxoma in a Patient with Carney Complex

Carney complex (CNC) is a rare, autosomal dominant multiple neoplasia syndrome. Although cutaneous myxomas commonly occur in CNC patients, intraoral myxomas are extremely rare. We present a case of a palatal myxoma in a 21-year-old female patient with CNC, along with a review of the pertinent literature. She presented with a sessile nodule on the hard palate that microscopically showed a multilobulated and highly vascularized myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells, suggestive of myxoid neurofibroma. Six years after the oral lesion was removed, she presented with a growth hormone (GH)-producing pituitary adenoma, a cardiac myxoma, two cutaneous myxomas on the lower abdomen area, and one myxoma in the vaginal mucosa. Therefore, the final diagnosis of the palatal lesion was of a soft tissue myxoma related to CNC. The patient remains on close follow-up, with no recurrences of the palatal myxoma after 7 years.     

Multiple recurrence of cardiac myxoma in a Carney complex patient 4 years after the first operation

Carney complex is a rare syndrome which includes cardiac myxoma, hyperactive endocrine neoplasm, spotty pigmented skin, and extracardiac myxomatous tumors. We report a case of a 26-year-old woman with Carney complex in whom recurrent multiple cardiac myxomas were resected 4 years after the first operation for left atrial (LA) myxoma. She had a history of left adrenalectomy in 1997 for Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). In February 2001, she was diagnosed with Carney complex because of evidence of LA myxoma, her spotty pigmented skin lesions, her past history and family history of cardiac myxoma in her mother. Then, LA myxoma was successfully resected through the superior trans-septal approach and has been followed-up by ultrasound cardiography (UCG) every 6-month after discharge.In January 2005, UCG revealed 2 masses in the LA and the right ventricle outflow tract. The 2nd surgery was performed in February 2005. We found the 3rd myxoma during surgery, resembling a flat polyp in the LA just at the inflow of the right upper pulmonary vein. All 3 myxomas were successfully resected. Sixteen months after the 2nd operation, she has been doing well without any sign of recurrence of myxoma.     

Carney's syndrome: complex myxomas. Report of four cases and review of the literature

Cardiac myxomas are rare tumors. They usually appear as a sporadic isolated condition in the left atrium of middle-aged women with no other coincidental pathology. Carney and others have described in young people a special complex group of cardiac myxomas associated to a distinctive complex pathology, giving identity to the "Syndrome Myxoma" or "Carney's Syndrome". Four additional cases of this syndrome, treated from 1977 to 1999 at the Hospital Clínico de la Universidad de Chile are presented here with a comprehensive review of the literature, accumulating 100 cases. The main features of our cases include the presence of malignant non cardiac tumors, a familial trend, follow-up of 23 years and an iterative recurrence in the elder case. To date all patients are tumor free. Reviewing the literature, patients with Carney's Syndrome were younger, with a mean age of 26 years and female predominance (62%). Cardiac myxomas affected the four chambers of the heart: 64% the left atrium; 44% the right atrium; 14% the left ventricle and 12% the right ventricle. They were multiple tumors in 41% and involved more than one chamber in 31%, being synchronous or metachronous. There was a marked familial trend (52%), a high incidence of recurrence (20%), with more than one occurring in half the cases. Extra-cardiac involvement consisted of: 68% pigmented skin lesions, 40% cutaneous myxomas, 37% adrenal cortical disease, 27% myxoid mammary fibroadenoma and 34% male patients with testes tumors. A low percentage had pituitary adenoma, melanotic schwannomas and thyroid disease. The diagnosis is made when two or more of these criteria are present. In agreement with these findings the four chambers of the heart should be examined at surgery for atypical myxoma locations, right atriotomy and combined superior-transseptal approach improve exposure of the cavities, careful screening of the first degree family members should be conducted, and closed short and long term follow up controls are important. Complex myxoma appears as a multi-systemic disorder, occasionally having an ominous prognosis and malignant potentiality, and is still undergoing investigation for better understanding and identification.     

The significance of multiple, recurrent, and "complex" cardiac myxomas

We reviewed the Mayo Clinic records of 56 patients who underwent operation for cardiac myxoma and 29 cases in which cardiac myxoma was found at autopsy. Five patients had a "complex" of unusual findings including multiple pigmented skin lesions (lentiginosis), myxoid fibroadenomas of the breast, skin myxomas, and primary pigmented nodular adrenocortical disease (a cause of Cushing's syndrome). Four of these five patients had multiple cardiac myxomas. Three of the four patients who underwent surgical excision of the cardiac myxomas had recurrent myxomas (the only recurrences in our series), and one of these patients had a second recurrence. The occurrence of multiple and recurrent myxomas in patients with the complex was significantly (p less than 0.001) higher than in our 80 patients with sporadic myxomas. The world literature was searched for cases of cardiac myxomas with the unusual associations of the complex, and also for familial, multiple, and recurrent myxomas. A group of patients were identified who had unusual biologic behavior including early development of myxomas, atypical myxoma locations, and a high risk for the development of recurrent myxomas. For these patients, we recommend a thorough search for multiple tumors at operation, close postoperative follow-up, and careful screening of family members.     

Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions

Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as "animal-type melanoma" and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC). Mutations of the protein kinase A regulatory subunit type 1alpha (R1alpha) (coded by the PRKAR1A gene) are found in more than half of CNC patients. In this study, we investigated whether PEM and EBN are related at the molecular level, and whether changes in the PRKAR1A gene status and the expression of the R1alpha protein may be involved in the pathogenesis of PEM and other melanocytic lesions. Histologic analysis of hematoxylin and eosin-stained sections and immunohistochemistry (IHC) with R1alpha antibody were performed on 34 sporadic PEMs, 8 CNC-associated PEMs from patients with known PRKAR1A mutations, 297 benign and malignant melanocytic tumors (127 conventional sections of 10 compound nevi, 10 Spitz nevi, 5 deep-penetrating nevi, 5 blue nevi, 6 cellular blue nevi, 2 malignant blue nevi, 3 lentigo maligna, and 86 melanomas of various types); in addition, 170 tissue microarray sections consisting of 35 benign nevi, 60 primary melanomas, and 75 metastatic melanomas, and 5 equine dermal melanomas, were examined. Histologic diagnoses were based on preexisting pathologic reports and were confirmed for this study. DNA studies [loss of heterozygosity (LOH) for the 17q22-24 locus and the PRKAR1A gene sequencing] were performed on 60 melanomas and 7 PEMs. IHC showed that R1alpha was expressed in all but one core from tissue microarrays (169/170), and in all 127 melanocytic lesions evaluated in conventional sections. By contrast, R1alpha was not expressed in the 8 EBN from patients with CNC and PRKAR1A mutations. Expression of R1alpha was lost in 28 of 34 PEMs (82%). R1alpha was expressed in the 5 equine melanomas studied. DNA studies correlated with IHC findings: there were no PRKAR1A mutations in any of the melanomas studied and the rate of LOH for 17q22-24 was less than 7%; 5 of the 7 PEMs showed extensive 17q22-24 LOH but no PRKAR1A mutations. The results support the concept that PEM is a distinct melanocytic tumor occurring in a sporadic setting and in the context of CNC. They also suggest that PEM differs from melanomas in equine melanotic disease, further arguing that the term animal-type melanoma may be a misnomer for this group of lesions. Loss of expression of R1alpha offers a useful diagnostic test that helps to distinguish PEM from lesions that mimic it histologically.     

Familial cardiac myxoma with multiple and contralateral recurrence

This report described a familial recurrent cardiac myxoma involving mother and daughter. The mother, at 27 year of age, had developed recurrent multiple myxomas in both left and right atrium and right ventricle 4 years after surgical excision of left atrial myxoma. Excision was successful and remains well without signs of recurrence 9 years postoperatively. In an asymptomatic 13-year-old daughter, a recurrent left atrial myxoma was found 3 years after the excision of right atrial myxoma by echocardiographic follow-up at 6 month intervals. Excision of left atrial myxoma was performed and histology showed the essentially the same findings as primary myxoma without signs of malignancy. From an experience of this familial recurrent myxoma and a review of 38 cases of 17 familial cardiac myxoma, it is recommended that wide excision of tumor including surrounding tissues, thorough search for multiple heterotopic tumors at surgery, close postoperative echocardiographic follow-up for at least 5 years, and examination of skin and breast tumor, and endocrine disorder for "complex" myxoma.     

Cardiac myxomas: results of surgical treatment.

Nineteen patients with cardiac myxoma were seen at Allegheny General Hospital from November 1974 to December 1990. Eighteen underwent operative removal, 9 females and 9 males; age range was 29-81 (mean 55). There were 18 operations for removal of a total of 24 myxomas. Fifteen patients had single myxomas and 3 had multiple myxomas. Of the 3 patients with multiple myxomas, 2 were familial. One patient had a metastatic recurrence intracranially. Perioperative mortality was 1 of 18 (5.5%). Operative morbidity was 12 of 18 (66.6%). Three patients required permanent pacemakers postoperatively (16.6%). Follow-up is complete and 15 of 17 patients (88%) are alive at a mean follow-up interval of 66.6 months (range 3-196 months).     

Male infertility as a component of Carney complex

Carney complex (CNC) is a multiple neoplasia syndrome characterised by endocrine tumours, spotty skin pigmentation, cardiac and other myxomas, psamommatous and pigmented schwannomas, large cell calcifying Sertoli cell tumours, and mammary ductal adenomas and other more rare lesions. CNC is inherited in an autosomal-dominant manner and has been mapped to at least two chromosomal loci. Patients who map to the CNC1 locus located on chromosome 17 carry inactivating mutations of the PRKAR1A gene that encodes the cAMP-dependent protein kinase regulatory subunit type 1-alpha (Kirschner et al., 2000). One gene responsible for type 2 (CNC2) is located on chromosome 2p16. Infertility in CNC can be caused by a number of factors; there is evidence that prkar1a deficiency in mice leads directly to infertility (Burton et al., 2006), but patients with CNC also have Sertoli cell tumours and a number of other reasons to affect fertility. We report on an infertile male with CNC and present evidence that male infertility should be considered as part of the phenotype of CNC.     

Recurrent Atrial Myxoma: Resection for Carney Complex Through a Minimally Invasive Approach

Abstract Carney's complex is an autosomal dominant syndrome characterized by recurrent atrial myxomas with concurrent endocrinopathies and characteristic dermatologic features. We present the case of a woman who presented with a recurrent atrial myxoma after two previous resections for myxomas through median sternotomies. As a consequence, we utilized a minimally invasive right thoracotomy approach. We discuss the clinical and pathologic features of Carney complex and the importance of identifying individuals and families with this condition for treatment and counseling. . (J Card Surg 2010;25:519‐521)     

Intrathoracic psammomatous melanotic schwannoma associated with the Carney complex

The Carney complex is a multiple neoplasia syndrome characterized by myxomas, schwannomas, mucocutaneous spotty pigmentations, and endocrine overactivity with or without endocrine tumors. Herein, we report the rare case of a 49-year-old man with a paravertebral intrathoracic tumor, a history of bilateral adrenalectomy, and resection of an atrial myxoma. A thoracoscopic en-bloc tumor extirpation with minimal safety margins was performed. Histopathologic examination revealed the diagnosis of a malignant psammomatous melanotic schwannoma that is associated with the Carney complex in 50% of these patients. Prognosis of all melanotic schwannomas is usually poor due to local recurrences or metastases. Although treatment guidelines for this rare tumor do not exist, radiotherapy was performed in our patient to prevent possible recurrence or regrowth of this malignant tumor. Twenty-four months after operation the patient showed no signs of tumor recurrence or metastases.     

Deoxyribonucleic acid ploidy pattern of cardiac myxomas. Another predictor of biologically unusual myxomas

A group of patients with cardiac myxoma who have a heritable syndrome involving skin myxomas, endocrine tumors, and lentiginosis--the complex of myxomas, spotty pigmentation, and endocrine overactivity--has been described previously. Patients with the complex had cardiac myxomas at an early age (average, 26 years) with frequent multiple myxomas (53%) and recurrent cardiac myxomas (22%); however, no histologic differences were noted when these tumors were compared with sporadic cardiac myxomas. In the present study, deoxyribonucleic acid flow cytometric analyses of 35 cardiac myxoma specimens were correlated with clinical findings (mean duration of follow-up, 13 years). Among 30 patients with sporadic (nonfamilial) cardiac myxoma, 24 (80%) had a normal (deoxyribonucleic acid diploid) ploidy pattern, and six (20%) had an abnormal (deoxyribonucleic acid tetraploid) pattern. Specimens from each of the five patients with the complex had abnormal deoxyribonucleic acid tetraploid patterns (p = 0.002 compared with the sporadic myxoma group). Further, all four patients who had recurrent cardiac myxoma had an abnormal deoxyribonucleic acid ploidy pattern (p = 0.007 compared with patients with nonrecurrent myxomas). Unlike conventional histologic examination, the ploidy pattern of cardiac myxomas seems to be sensitive for detecting biologically unusual tumors, and a deoxyribonucleic acid tetraploid pattern suggests a high risk of recurrence.     

Surgical treatment of cardiac myxomas

Information of 40 patients operated on for cardiac myxoma was reviewed. The age ranges were as follows: nine patients, 20 to 30 years; seven patients, 31 to 40 years; 10 patients, 41 to 50 years; and 11 patients, over 50 years. One patient each was 14 months, 14 years, and 16 years old. Left atrial myxoma was diagnosed in 31 patients, left ventricular myxoma in one, right atrial myxoma in five, and right ventricular myxoma in two. Multiple calcified right atrial and ventricular myxomas were detected in one patient. Detailed clinical characteristics and diagnostic methods are presented. The hospital mortality rate was 7.5%. At 15 years' follow-up practically all of the patients had good late results. There were no recurrent myxomas. Rare left ventricular myxomas and multiple calcified right atrial and ventricular myxomas involving a tricuspid valve are also presented.     

Surgery for cardiac myxomas

Myxomas, particularly left-atrial myxomas, are the most common primary tumors of the heart that cardiac surgeons will be called upon to remove. Although some tumors are discovered incidentally during echocardiographic examination, many produce symptoms caused by the release of inflammatory cytokines, obstruction to intracardiac blood flow, and/or embolization. With rare exception, cardiac myxomas are benign, and excision is safe and curative in most patients. In a 38-year experience at the Mayo Clinic, 100 patients have had 106 operations for myxoma, and there has been only 1 perioperative death. During follow-up extending to 25 years, postoperative survival is similar to that of an age- and sex-matched population, and at 20 years postoperatively, 94% of patients were free of recurrent myxomas. Recognition of familial and syndrome myxomas (eg, Carney's complex) is important in guiding surgical approach, planning follow-up, and predicting recurrence of these unusual neoplasms.     

Bi-atrial myxoma in a toddler: a case report

Cardiac myxomas are benign intracavitary neoplasms. Their incidence in cardiac surgery is approximately 0.3%. Biatrial myxomas are extremely rare. A 3 years old child presented with dysphagia, progressive weight loss and repeated attacks of cough and cold with systolic murmur in mitral area. Echocardiography detected biatrial myxoma. Myxomas are known for life threatening complications like thromboembolism and sudden cardiac arrest. Excision of biatrial myxoma was done under cardiopulmonary bypass. Postoperative course was uneventful. Myxomas are known for recurrence and familial occurrence. So, regular follow up and familial screening are important.     

Primary Cardiac Myxomas: Clinical Experience and Surgical Results in 67 Patients

Abstract   Background: Primary cardiac tumors are rarely seen and have an incidence of 0.3% of all open-cardiac operations. Among those, myxoma is the most common cardiac tumor. There are only a few reports of such tumors from Turkey. Methods and Results: We report our experience with 67 patients with primary cardiac myxoma operated on at our institute between December 1990 and October 2006. The study group comprised 22.38% males and 77.61% females with a mean age of 46.29 (±18.29) years. The predominant symptoms were dyspnea and palpitation. In addition, 3 patients presented with peripheral embolism with impending limb ischemia that necessitated emergency embolectomy. Echocardiography was generally enough for the demonstration of the myxomas. Two sporadic myxomas (%2.98) and one familial myxomas (1.49%) presented with recurrence. There were three (4.47%) hospital mortalities. Two patients (2.27%), with preoperative decompensation, died after tumor resection, from progressive low cardiac output. One patient, with preoperative massive pulmonary embolus, died two days after operation, from right ventricle insufficient. Conclusion: In conclusion, we herein summarized surgical results with primary cardiac myxomas. Surgical excision of primary cardiac myxomas tends to show excellent results after surgical excision.     

Familial atrial myxoma

Familial and biatrial myxomas of the heart have rarely been described. We describe a familial atrial myxoma involving a parent with biatrial and a child with a left atrial myxoma. Atrial myxomas were diagnosed preoperatively by echocardiography and successfully removed at operation. Echocardiography can be used in the diagnosis of cardiac myxoma, detection of its possible recurrence and for screening other members of the family.