Ultrasonographic features of cutaneous myxomas in a patient with Carney complex

Abstract Carney complex is a rare genodermatosis characterized by cardiac and cutaneous myxomas, among other tumors. In the majority of cases, cutaneous myxomas precede the diagnosis of cardiac myxomas, which are the main cause of death in these patients. Despite the fact that the diagnosis of cutaneous myxomas is histopathological, high-frequency ultrasonography plays an essential role in the differential diagnosis with other cutaneous and subcutaneous tumors. The authors of the present study describe, for the first time in the literature, the ultrasonographic features of both variants of cutaneous myxomas, superficial and subcutaneous, in a patient with a Carney complex.

Ultrasonographic features of cutaneous myxomas in a patient with Carney complex.

Carney complex is a rare genodermatosis characterized by cardiac and cutaneous myxomas, among other tumors. In the majority of cases, cutaneous myxomas precede the diagnosis of cardiac myxomas, which are the main cause of death in these patients. Despite the fact that the diagnosis of cutaneous myxomas is histopathological, high-frequency ultrasonography plays an essential role in the differential diagnosis with other cutaneous and subcutaneous tumors. The authors of the present study describe, for the first time in the literature, the ultrasonographic features of both variants of cutaneous myxomas, superficial and subcutaneous, in a patient with a Carney complex.

Non-syndromic aortic valve myxoma in a teen, cause of angina symptoms.

BACKGROUND: Cardiac myxoma, a common benign primary tumor of the heart can be categorized into syndromic (Carney Complex) and non-syndromic(isolated). Carney Complex associated myxomas can be found in any region and system (cardiac, cutaneous, osseous, genitalia), and may manifest at a tender age. On the contrary, non-syndromic cardiac myxomas are usually confined to the chambers, and symptoms often present from 5th decade of life. Aortic valve myxoma is a very unusual occurrence, and presentation in a teen is extremely rare. CASE REPORT: We share a case of aortic valve myxoma, uncovered using echocardiography in a 16-year-old male, admitted with complaints of exertional chest pain, dyspnoea and systolic murmur. Patient underwent uneventful surgery for tumor excision, and discharged 6-days post operation. CONCLUSION: Given the high risk of developing cardiogenic stroke, infective endocarditis, degenerative effects on aortic valve leaflets and possible sudden death, like many other centers, we advocate for immediate liquidation of aortic myxoma regardless of age and symptoms.

Second recurrence of familial atrial myxomas: mother and daughter simultaneously.

Sporadic ca rdiac myxomas rarely recur, however recurrence rates are higher in patients with a familial aggregation or Carney complex. Carney complex is characterised by multiple mucocutaneous lesions and accounts for up to two-thirds of familial cardiac myxomas. A second recurrence is very rare, even in the case of Carney complex. We report on two cases of recurrent cardiac myxoma, a mother and daughter, who concurrently presented with a second recurrence of atrial myxomas. The time interval between the first and second recurrence following surgery was four years in both. The possibility of repeat recurrence of cardiac myxomas demonstrates the importance of regular echocardiography to detect recurrence and to prevent the potential complications associated with cardiac myxomas. Family screening should be recommended for familial myxomas.

Recurrent left atrial myxoma in Carney complex: A case report of a familial pedigree.

RATIONALE: Carney complex (CNC) accounts for up to two-thirds of familial cardiac myxoma, which is a rare autosomal dominant syndrome characterized by multiple mucocutaneous lesions and endocrine tumors. Mutation in the cAMP-dependent protein kinase A (PKA) regulatory (R) subunit 1 (PRKAR1A) gene has been identified as a cause of CNC. In this article, we report 3 first-degree relatives with cardiac myxoma who were diagnosed with CNC and underwent surgical resection. PRESENTING CONCERNS: The recurrence of cardiac myxoma was detected in a 45-year-old male by echocardiography 5 years after the resection was carried out, without any additional symptoms. Family screening indicated that his brother and his brother's son also had a history of cardiac myxoma. DIAGNOSIS: The echocardiography of the patient showed a 43 mm × 28 mm echo mass at the bottom of the atrial septum near anterior mitral leaflet. Sequencing of the patient's genomic DNA obtained from peripheral blood identified a p.E17X (c.491-492delTG) mutation in PRKAR1A, which encodes the type Iα regulatory subunit of protein kinase A. INTERVENTIONS: The patient received redo cardiac myxoma resection and mitral valve repair under cardiopulmonary bypass. Echocardiographic surveillance was conducted after the surgery. OUTCOMES: The patient recovered quickly after the surgery and was discharged without any abnormality detected by echocardiography. Follow-up after 1 year showed no recurrence of the cardiac myxoma. MAIN LESSON: We recommend echocardiographic surveillance of the affected individuals and their first-degree relatives at regular intervals, given the high risk of recurrence and the morbidity and mortality associated with cardiac tumors in any location.

[Asymptomatic Cardiac Myxoma Complicated with Carney Complex;Report of a Case].

Carney complex(CNC) is a rare genetic syndrome, characterized by spotty pigmentation of the skin, cardiac myxomas and multiple endocrine tumors. We present a case of asymptomatic cardiac myxoma associated with CNC. She was 49 year-old healthy woman whose son was known to have CNC. She was also diagnosed as CNC due to her family history, typical cutaneous findings and screening endocrine test. Screening ultrasound echocardiography resulted in discovering her asymptomatic left atrial myxoma of 30 mm size. Tumor was successfully resected via median sternotomy and no signs of recurrence were observed at 1 year follow up. Periodical follow up is mandatory because of its high recurrence rate.

The regulatory 1α subunit of protein kinase A modulates renal cystogenesis.

The failure of the polycystins (PCs) to function in primary cilia is thought to be responsible for autosomal dominant polycystic kidney disease (ADPKD). Primary cilia integrate multiple cellular signaling pathways, including calcium, cAMP, Wnt, and Hedgehog, which control cell proliferation and differentiation. It has been proposed that mutated PCs result in reduced intracellular calcium, which in turn upregulates cAMP, protein kinase A (PKA) signaling, and subsequently other proliferative signaling pathways. However, the role of PKA in ADPKD has not been directly ascertained in vivo, although the expression of the main regulatory subunit of PKA in cilia and other compartments (PKA-RIα, encoded by PRKAR1A) is increased in a mouse model orthologous to ADPKD. Therefore, we generated a kidney-specific knockout of Prkar1a to examine the consequences of constitutive upregulation of PKA on wild-type and Pkd1 hypomorphic (Pkd1RC) backgrounds. Kidney-specific loss of Prkar1a induced renal cystic disease and markedly aggravated cystogenesis in the Pkd1RC models. In both settings, it was accompanied by upregulation of Src, Ras, MAPK/ERK, mTOR, CREB, STAT3, Pax2 and Wnt signaling. On the other hand, Gli3 repressor activity was enhanced, possibly contributing to hydronephrosis and impaired glomerulogenesis in some animals. To assess the relevance of these observations in humans we looked for and found evidence for kidney and liver cystic phenotypes in the Carney complex, a tumoral syndrome caused by mutations in PRKAR1A These observations expand our understanding of the pathogenesis of ADPKD and demonstrate the importance of PRKAR1A highlighting PKA as a therapeutic target in ADPKD.

PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex.

CONTEXT: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. CASE DESCRIPTION: Here, we describe the first case of a patient with CNC and adrenocorticotropic hormone (ACTH)-dependent Cushing disease due to a pituitary corticotroph adenoma. Loss-of-heterozygosity analysis of the pituitary tumour revealed loss of the wild-type copy of PRKAR1A, suggesting a role of this gene in the pituitary adenoma development. CONCLUSION: PRKAR1A loss-of-function mutations can rarely lead to ACTH-secreting pituitary adenomas in CNC patients. Pituitary-dependent disease should be considered in the differential diagnosis of Cushing syndrome in CNC patients.

Surgical Management of Carney Complex-Associated Pituitary Pathology.

BACKGROUND: Carney complex (CNC) is a familial neoplasia syndrome that is associated with pituitary-associated hypersecretion of growth hormone (GH) (acromegaly). The underlying cause of pituitary GH hypersecretion and its management have been incompletely defined. OBJECTIVE: To provide biological insight into CNC-associated pituitary pathology and improve management, we analyzed findings in CNC patients who underwent transsphenoidal surgery. METHODS: Consecutive CNC patients at the National Institutes of Health with acromegaly and imaging evidence of a pituitary adenoma(s) who underwent transsphenoidal resection of tumor(s) were included. Prospectively acquired magnetic resonance imaging and biochemical, surgical, and histological data were analyzed. RESULTS: Seven acromegalic CNC patients (2 male, 5 female) were included. The mean age at surgery was 29.7 years (range, 18-44 years). The mean follow-up was 4.7 years (range, 0.2-129 months). Magnetic resonance imaging revealed a single pituitary adenoma in 4 patients and multiple pituitary adenomas in 3 patients. Whereas patients with single discrete pituitary adenomas underwent selective adenomectomy, patients with multiple adenomas underwent selective adenomectomy of multiple tumors, as well as partial or total hypophysectomy. All adenomas were either GH and prolactin positive or exclusively prolactin positive. Pituitary tissue surrounding the adenomas in patients with multiple adenomas revealed hyperplastic GH- and prolactin-positive tissue. CONCLUSION: CNC-associated acromegaly results from variable pituitary pathology, including a single GH-secreting adenoma or multiple GH-secreting adenomas and/or GH hypersecretion of the pituitary gland surrounding multiple adenomas. Although selective adenomectomy is the preferred treatment for cases of GH-secreting adenomas, multiple adenomas with associated pituitary gland GH hypersecretion may require partial or complete hypophysectomy to achieve biochemical remission.

Carney complex with right ventricular myxoma following second excision of left atrial myxoma.

We report a case of Carney complex with massive right ventricular myxoma after two-time excision of a left atrial myxoma. The patient was a 45-year-old woman with pyrexia. She temporarily lost consciousness during examination, and echocardiography and computed tomography (CT) showed a massive tumor in the right ventricle. Loss of consciousness was determined to be caused by intracardiac obstruction of blood flow due to the tumor, and corrective surgery was performed. Pathological findings indicated myxoma with no malignancy. Myxomas are benign, but there is frequent recurrence of tumors associated with Carney complex. Because her myxomas were accompanied by unusual skin pigmentation, she was diagnosed with Carney complex. Carney complex has a high rate of myxoma recurrence, and often runs in families. In all cases, it is necessary to observe the patient's course closely.