ABC | Volume 114, Nº4, Suplement, April 2020

Case Report Recurrent Atrial Myxoma in a Patient with Carney Complex. A Case Report and Literature Review Laura A. Cervantes-Molina, 1 David Ramírez-Cedillo, 1 Italo D. Masini-Aguilera, 1 Jaime G. López-Taylor, 1 Michel Machuca-Hernández, 1 Dulman O. Pineda-De Paz 1 Hospital Civil de Guadalajara Unidad Hospitalaria Fray Antonio Alcalde - Cardiovascular Surgery, 1 Guadalajara, Jalisco - México Introduction Primary cardiac tumors are uncommon. They have an incidence between 0.0017% and 0.28% corresponding to 17 and 2,800 of primary heart tumors per 1 million autopsies. 1 Cardiac Myxoma (CM) is a benign neoplasm and represents the most common one among primary cardiac tumors in adults. 2 CMs have an annual incidence of 0.5–0.7 of surgically resected cases per one million; with the majority of cases showing sporadic appearance and less than 10%, a family inheritance pattern. 3 The left atrium (LA) is the most common site of origin (75– 80%), followed by the right atrium. Multiple CMs represents 5% of all CMs and only 50% of them have a bilateral origin. 4 CMs have a wide range of manifestations, mostly obstructive symptoms, but they can also produce embolisms being the worst of their scenarios. 1 There are 2 types of CM: 1. Simple, the most common one, representing 95% of all CMs. Its highest prevalence is at 56 years of age, with a risk of developing a second myxoma between 1 and 3%. 2. Autosomal dominant family forms, such as Carney Complex (CNC). 2 These types of CM present an atypical anatomic distribution that is different from the LA. 5 They appear at an average age of 25 years and tend to be multiple in 45% of cases, with a relapse rate between 15% and 22%. 1,4,6 Case Report We report the case of a 22-year-old male patient with a previous history of right atrial CM resection at 12 years of age and resection of a cutaneous abdominal myxoma at 20 years of age; he was brought to the ER for generalized sudden onset paresthesia associated with right fascio-corporal hemiparesis and motor aphasia. On physical examination, acromegalic- like appearance, short neck, lentiginosis with grayish nevi on his lower lip and multiple café-au-lait spots on his face (Figure 1-A). Brain axial CT scan showed intra-axial hypodense image in the left parietal-temporal region of 40 x 24 mm in diameter (Figure 1-B). Then, echocardiography was performed, showing normal LVEF (64%) and mild LA dilatation. LA mobile mass (5.4 cm x 2.8 cm in diameter) of homogeneous appearance and regular contours adhered to the interatrial septum with prolapse to the left ventricle without no gradient of stenosis or signs of regurgitation. (Figure 1-C) CNC was suspected, due to an abnormal hormonal profile [secondary hyperthyroidism and hypercortisolism]. (Table 1) Additional tests were performed: brain MRI, which showed in axial sequence T1 a hypointense area of 7 mm in diameter, corresponding to a pituitary microadenoma and testicular ultrasound, which revealed bilateral microlithiasis (Figure 1-F). As recommended in international guidelines, he was taken to cardiac surgery for tumor resection and concomitant resection of the atrial septum, because this is absolutely mandatory during the resection of CM in CNC to avoid atrial myxoma recurrence. LA mass of soft and friable consistency, compatible with CM of 5.5 cm x 3 cm was found (Figure 1-D and E). Histological analysis, again, confirmed atrial myxoma. The patient had a favorable postoperative outcome, without any complication, and progressive improvement of neurological symptoms. CNC diagnosis was established mainly due to the multiple cutaneous disorders, “recurrent” and “bilateral” CM, prior history of extra-cardiac myxoma, as well as endocrine disorders and testicular calcifications. Discussion CMs are the most common primary cardiac tumors. 2 However, cases of recurrence are very rare. 7,8 CNC is an uncommon genetic disorder inherited in an autosomal dominant manner; characterized by multiple benign tumors most often affecting the heart, skin and the endocrine system; and abnormalities in skin coloring (pigment) resulting in a spotty appearance to the skin of affected areas. Its mean age of presentation is 20 years, and its prevalence remains unknown. 5 Diagnosis is made with at least two of the 12 criteria proposed by Stratakis (Table 2) or one of these abnormalities plus the affection of a first-degree relative or mutation in the gene of regulatory subunit type I protein kinase A [gene PRKAR1A]. 5 It is important to approach and monitor both individual and family cases of recurrent myxomas as, to date, more than 125 mutations of gene-PRKAR1A have been described. It is the main gene associated with CNC. 9 The inactivating mutations of gene PRKAR1A are responsible for the phenotypic manifestations of CNC in more than 70% of cases. 6,9 Mailing Address: Dulman O. Pineda-De Paz • Hospital Civil de Guadalajara Unidad Hospitalaria Fray Antonio Alcalde – Cardiology - Calle Hospital, 278 Colonia El Retiro Guadalajara Jalisco 44280 – México E-mail: dulmanpinedamd@gmail.com Manuscript received June 25, 2019, revised manuscript July 25, 2019, accepted August 18, 2019 Keywords Carney Complex/complications; Atrial Myxoma; Genetic Loci; PRKAR1A. DOI: https://doi.org/10.36660/abc.20190405 31