Recurrent right ventricular cardiac myxoma in a patient with Carney complex: a case report.

Muhammad Rizwan Sardar,Jeanine E Romanelli,Amanulla Khaji,Khawar Maqsood,Wajeeha Saeed,Harry G Zegel,Frank C Mcgeehin,Ankush Lahoti

doi:10.1186/1752-1947-8-134

Abstract

IntroductionCarney complex is a multiple neoplasia syndrome involving cardiac, endocrine, neural and cutaneous tumors with a variety of pigmented skin lesions. It has an autosomal dominant mode of inheritance. Approximately 7% of cardiac myxomas are related to the Carney complex. Myxomas that occur as part of the Carney complex affect both sexes with equal frequency. Cardiac myxomas with Carney complex are reported mostly in the left side of the heart and are less common on the right side. As per our review, this is the first reported case of Carney complex with right ventricle cardiac myxoma.Case presentationWe present a rare case of recurrent cardiac myxoma in a patient later diagnosed to have Carney complex. A 46-year-old Caucasian man with a history of thyroid hyperplasia came to out-patient cardiology department with new onset atrial fibrillation. A transthoracic echocardiogram revealed a right ventricular mass attached to his interventricular septum, which was later seen on a transesophageal echocardiogram and cardiac magnetic resonance imaging. He underwent resection of the ventricular mass which on pathology revealed myxoma. He later developed skin lesions, pituitary adenoma and Sertoli cell tumor suggesting Carney complex. Two years later he developed a new mass within his right atrium which was later resected.ConclusionsCarney complex is a rare autosomal dominant disease with variable penetrance. Since it involves multiple organs, patients diagnosed with Carney complex should undergo serial endocrine workup, neural assessments, echocardiograms and testicular ultrasounds. Of the total number of cases of Carney complex, 65% are linked to PRKAR1A gene mutation. It is important for clinicians to be cognizant of a link between cardiac myxoma and Carney complex. The use of multi-imaging modalities allows better delineation of the mass before planned resection. Carney complex-related cardiac myxoma comprises 7% of all cardiac myxomas. Right ventricular cardiac myxomas are rare. This case report is the first to describe right ventricular myxoma with Carney complex.

Highlights

Carney complex is a multiple neoplasia syndrome involving cardiac, endocrine, neural and cutaneous tumors with a variety of pigmented skin lesions
Case presentation: We present a rare case of recurrent cardiac myxoma in a patient later diagnosed to have Carney complex
Carney complex is a rare autosomal dominant disease with variable penetrance. Since it involves multiple organs, patients diagnosed with Carney complex should undergo serial endocrine workup, neural assessments, echocardiograms and testicular ultrasounds

Summary

Conclusions

Our patient initially had multiple myxomas in his right ventricle, the least common location of cardiac myxomas, which aroused the suspicion of CNC and reevaluation confirmed the diagnosis. This is the first case of right ventricular cardiac myxoma in association with CNC. Consent Written informed consent was obtained from the patient for publication of this case report and any accompanying images. Authors’ contributions AL, WS and KM carried out manuscript writing. AK and WS carried out editing of manuscript and images. JER, FCM and HGZ carried out proofreading of the manuscript. MRS carried out manuscript design, conceptualization, manuscript writing, editing and final proofread. All authors read and approved the final manuscript

Introduction

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Findings

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