Diagnosis of Carney complex following multiple recurrent cardiac myxomas

Yokoyama, Shigeki; Nagao, Kanetsugu; Higashida, Akihiko; Aoki, Masaya; Yamashita, Shigeyuki; Fukuda, Nobuyuki; Doi, Toshio; Yamashita, Akio; Fukahara, Kazuaki; Yoshimura, Naoki

doi:10.1007/s11748-021-01719-w

Cited by 8 publications

(8 citation statements)

References 11 publications

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“…Therefore, patients with CNC necessitate a rigorous endocrine follow-up including plasma level monitoring of chromogranin A and growth hormone, since excess of this latter has been associated in 60% of patients with myxomas or recurrence of myxomas [ 5 , 6 ]. In our case, on admission, only plasmatic level of growth hormone was elevated.…”

Section: Discussionmentioning

confidence: 99%

“…Incidence of recurrence after surgical resection is low (1 to 3%). On the other hand, in CNC patients, the incidence of recurrence is high and ranges between 10 and 44% [ 3 , 5 , 6 , 8 ]. If gender does not influence the initial occurrence of myxomas, on the other hand, it obviously plays a significant role in recurrence of myxomas since, in the study published by Pitsava et al [ 3 ], 73.3% of recurrence were females.…”

Section: Discussionmentioning

confidence: 99%

“…However, sporadic mutations usually produce mild symptoms later in life [ 1 , 5 ]. Therefore, a close and regular follow-up is crucial to detect new symptoms and avoid life-threatening complications and recurrence of tumoral process [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

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Recurrent Biatrial Myxomas in Carney Complex with a Spinal Melanotic Schwannoma: Advocacy for a Rigorous Multidisciplinary Follow-Up

Grandmougin,

Moussu,

Hubert

et al. 2023

Case Reports in Cardiology

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A 31-year-old female patient with a previous history of Carney complex and surgical resection for cardiac myxoma and bilateral adrenalectomy at 18 years old and 10 and 11 years old, respectively, was referred to our department with a diagnosis of recurrent biatrial myxomas incidentally discovered on echography. A magnetic resonance imaging (MRI) confirmed the diagnosis of a tumor protruding into the left ventricle, and the patient underwent a surgical resection of a large left atrial mass and a right-sided atrial small tumor. Diagnosis of bilateral atrial myxomas was confirmed by histologic studies. Postoperative outcome was uneventful, and the patient was discharged at the 7th postoperative day. Few months later, she reported trivial clinical symptoms suspecting a cervical radiculopathy. MRI confirmed the presence of a compressive cervical spinal cord tumoral mass at the C2-3 level leading to perform a surgical exeresis of the tumor. Histology showed a spinal melanotic schwannoma. This case highlights the risk of unexpected ubiquitary tumor locations and the importance of a rigorous transversal multidisciplinary follow-up to prevent severe complications in patients with Carney complex.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Recurrent Biatrial Myxomas in Carney Complex with a Spinal Melanotic Schwannoma: Advocacy for a Rigorous Multidisciplinary Follow-Up

Grandmougin,

Moussu,

Hubert

et al. 2023

Case Reports in Cardiology

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“… 9 The incidence of primary cardiac tumors is reported to be 0.0017%–0.19%, approximately 75% of which are benign, and cardiac myxomas account for about 50% of primary benign tumors. 23 Sporadic cardiac myxomas occur most commonly in middle-aged women, are generally single lesions on the left atrial aspect of the interatrial septum, and do not recur after surgical resection. 24 In the present study, all seven cardiac myxomas were located on the left atrium, and none of the seven patients had a history of surgery for myxoma or CNC.…”

Section: Discussionmentioning

confidence: 99%

Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma

Sun,

Li,

Sun

et al. 2023

Arch Iran Med

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Background: Inactivating mutations of the protein kinase A regulatory subunit 1 alpha (PRKAR1A) gene have been reported in familial cardiac myxoma. However, the role of PRKAR1A mutation in sporadic cardiac myxoma remains unknown. Methods: Targeted next-generation sequencing (NGS) was performed to identify mutations with the PRKAR1A gene in seven cases of sporadic cardiac myxomas. Sanger sequencing of DNA from cardiac myxoma specimens and matched peripheral blood samples was performed to verify the identified mutations. Results: Targeted NGS of myxoma DNA revealed 232 single nucleotide variants in 141 genes and 38 insertion-deletion mutations in 13 genes. Six PRKAR1A mutations were identified in four of the seven cardiac myxoma cases, and thus, the PRKAR1A inactivating mutation rate was 57.2% (4/7, 95% CI=0.44-0.58, P<0.05). The PRKAR1A variants identified by Sanger sequencing analysis were consistent with those from the NGS analysis for the four myxoma specimens. All of the pathogenic PRKAR1A mutations led to premature termination of PRKAR1A, except for one synonymous mutation. Moreover, none of the nonsense and missense mutations found in the myxoma specimens were found in the matched peripheral blood samples. Conclusion: Pathogenic mutations of the PRKAR1A gene were identified in tumor specimens from four cases of sporadic cardiac myxoma, and the absence of these mutations in peripheral blood samples demonstrated that they were somatic mutations.

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“…Myxomas account for nearly 77% of all primary cardiac tumors ( 6 – 8 ). Echocardiography, cardiac MRI, coronary computed tomography angiography (CTA), and coronary angiography are available diagnostic modalities for cardiac myxoma ( 8 – 10 ). Here, we reported an uncommon case of an adult female patient in whom a left atrial myxoma presenting with partial morphology of cavernous hemangioma was supplied by the right coronary artery.…”

Section: Introductionmentioning

confidence: 99%