BACKGROUND

Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome caused by PRKAR1A gene mutation and  characterized by lentigines, myxomatous tumors and various endocrine neoplasms.

CASE PRESENTATION

This is a case of a 52-year-old male patient who underwent echocardiogram for intermittent palpitations and near-syncopal attack, which revealed a left atrial myxoma. The patient also exhibited multiple lentigines and had a history of histologicallyconfirmed papillary thyroid carcinoma. Surgical excision and subsequent histopathologic examination confirmed cardiac myxoma, fulfilling three major Stratakis criteria for CNC.

DISCUSSION

This case highlights the importance of a thorough history and physical examination with a strong understanding of the syndrome’s features being key to recognizing the disease. Increasing awareness and reinforcing knowledge of CNC are crucial for preventing misdiagnosis and ensuring effective management of this rare condition. To our knowledge, this is the first published case report of CNC in the Philippines, emphasizing the need for heightened regional awareness.

CONCLUSION

CNC may present with subtle or nonspecific symptoms and atypical tumor locations. Early recognition through a high index of suspicion, targeted imaging and a multidisciplinary approach is critical to optimize outcomes and guide family screening in this rare syndrome.

Human ; Male ; Middle Aged: 45-64 Yrs Old ; Multiple Endocrine Neoplasia ; Carney Complex ; Myxoma ; Syndrome ; Neoplasms ; Mutation ; Lentigo ; Genes

Carney Complex ; Humans ; Jugular Foramina ; Myxoma ; Neoplasm Recurrence, Local

PURPOSE: To report a case of eyelid myxoma in Carney syndrome. CASE SUMMARY: A 24-year-old male presented with a 4-year history of a slowly growing nodule at the right upper eyelid. The patient underwent surgical excision five times for the eyelid nodule, which recurred at the same site. He was diagnosed with Carney syndrome. The eyelid lesion was pinkish and lobulated, and the surface was firm and soft. The nodule was completely excised and a histopathological examination revealed a myxoid matrix containing spindle- or stellate-shaped cells and many thin-walled vessels. The nodule was diagnosed as myxoma. There was no recurrence at 13 months after surgery. CONCLUSIONS: Myxoma rarely involves the eyelid, but it should be considered in the differential diagnosis of multiple recurrent nodules of the eyelid. Complete excision is important if clinically suspected, and regular follow-up is needed after surgery. In addition, a thorough systemic evaluation, including echocardiography, should be performed to find any evidence of Carney syndrome.
Carney Complex ; Diagnosis, Differential ; Echocardiography ; Eyelids ; Follow-Up Studies ; Humans ; Male ; Myxoma ; Recurrence ; Young Adult

No abstract available.
Carney Complex* ; Humans ; Neurilemmoma*

Herein, we report on a family with Carney complex. Four members of the family underwent a total of 11 open heart operations as well as 9 other operations to treat extrathoracic masses. All the family members met at least 2 major clinical criteria and 1 supplemental criterion. We analyzed their genomic loci, including the protein kinase A regulatory subunit 1 gene. The results revealed no specific mutations, except for a common single nucleotide polymorphism. This case series of Carney complex emphasizes the importance of close longitudinal follow-up because of the high rate of tumor recurrence irrespective of the site. Clinicians should not overlook the specific features of familial myxoma.
Carney Complex* ; Cyclic AMP-Dependent Protein Kinases ; Follow-Up Studies ; Heart* ; Humans ; Myxoma ; Polymorphism, Single Nucleotide ; Recurrence

Cardiac tumors are rare, and multiple myxomas are even rarer. The latter phenomenon is mostly associated with the Carney complex, a dominantly inherited disease characterized by multiple primary cardiac myxomas, endocrinopathy, and spotty pigmentation of the skin. We report the rare case of a patient who did not have the Carney complex but had multiple primary cardiac tumors. A 78-year-old woman with a past history of breast cancer was referred to our hospital for further examination of multiple cardiac tumors. Echocardiography showed 4 tumors in the left atrium and left ventricle. We could not diagnose them preoperatively and decided to resect them surgically because they were mobile and could have caused embolism and obstruction. The postoperative pathological findings of all 4 tumors were myxomas, although the patient did not meet the diagnostic criteria of the Carney complex. Therefore, a rare case of multiple primary cardiac myxomas was diagnosed.
Aged ; Breast Neoplasms ; Carney Complex* ; Echocardiography ; Embolism ; Female ; Heart Atria ; Heart Neoplasms ; Heart Ventricles ; Humans ; Myxoma* ; Pigmentation ; Skin

Although cardiac myxoma is the most commonly encountered benign cardiac tumor in cardiac surgery practice, recurrent cardiac myxoma is very rare, is most commonly related to the Carney complex, and usually requires multiple cardiac operations with specific requirements in terms of perioperative management. In this report, we describe a patient who experienced the fourth recurrence of cardiac myxoma and review the diagnostic criteria of the Carney complex. This is the first report of such a case in Korea.
Carney Complex* ; Heart Neoplasms ; Humans ; Korea ; Myxoma* ; Recurrence* ; Thoracic Surgery

No abstract available.
Asian Continental Ancestry Group ; Carney Complex* ; Female ; Humans ; Nevus, Blue*

No abstract available.
Carney Complex* ; Hyperplasia* ; Myxoma* ; Nevus, Blue* ; Testis*

No abstract available.
Alternative Splicing ; Biopsy ; Carney Complex/diagnosis/enzymology/*genetics/therapy ; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/*genetics ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Humans ; Magnetic Resonance Imaging ; Male ; *Mutation ; Pedigree ; Phenotype ; Protein Isoforms ; Tomography, X-Ray Computed ; Young Adult