Abstract 17116: Recurrent Atrial Myxomas As A Presenting Feature Of Carney Complex

Case Presentation: A 24-year-old man with a history of adrenal insufficiency on hydrocortisone presented to the hospital after losing consciousness in a swimming pool and was found to have an acute MCA stroke. PMHx was significant for left atrial myxoma status post resection 3 years ago, known L frontal brain, L adrenal, and testicular masses status post-resection. His father had a history of resected left atrial mass. Cardiology was consulted for a L atrial mass on the bedside echocardiogram upon initial emergency evaluation, during which the patient was placed on mechanical ventilation with stable vitals. The cardiovascular exam revealed a midsternal scar but was otherwise normal. Pulses were 2+ bilaterally on the upper and lower extremities. The skin was noted to have multiple hyperpigmented macules resembling cafe-au lait spots. The patient underwent mechanical thrombectomy with thrombolysis for his large MCA occlusion. His postoperative course was complicated by a worsening neuro exam in the setting of mid-line shift for which he had undergone decompressive hemicraniectomy. His adrenal insufficiency was managed by endocrinology. A TTE was significant for a L atrial mass measuring 4.8 cm attached to the interatrial septum with a stalk. A CT scan identified 2 discrete hypodensities of 8 mm and 3.8 cm which were thought to be the cardioembolic source for the stroke. An abdominal CT revealed a recurrent L adrenal neoplasm with absent R adrenal gland post resection of neoplasm. Conservative cardiac management was elected in the setting of a worsening neuroprognosis with follow-up post neurologic insult. Discussion: Considering the constellation of neoplastic and cutaneous findings, this was diagnosed as a case of Carney complex. This case identifies recurrent myxoma as a unique feature of Carney complex, ruling out other differentials such as neurofibromatosis and MEN syndrome. It highlights the importance of screening to prevent embolic stroke from recurrent myxomas.

Inherited endocrine syndromes and MEN

This chapter begins with genetic testing for monogenic endocrine disorders, and then goes on to define the diagnosis, treatment, and management of McCune-Albright syndrome, neurofibromatosis, von Hippel-Lindau disease, Carney complex, Cowden syndrome, and POEMS syndrome. It then goes on to the clinical features and management of MEN type 1 and MEN type 2, and MEN type 4. Inherited primary hyperparathyroidism, phaeochromocytoma-paraganglioma syndromes, and renal calculi.

Clinical and genetic heterogeneity of micronodular adrenal hyperplasia

Micronodular adrenal hyperplasia is a rare cause of ACTH-independent Cushing syndrome. It can be divided into two entities: primary pigmented nodular adrenocortical disease (PPNAD) and non-pigmented micronodular adrenocortical disease, among which familial and sporadic forms are distinguished. The most common is the genetically determined familial form PPNAD, as one of the components of Carney complex. The vast majority of patients have identifiable pathogenic variants in the PRKAR1A gene. In addition to the PRKAR1A gene mutations, inactivating mutations in the genes encoding phosphodiesterases (PDE11A4 and PDE8B), as well as PRKACA gene amplification, have been described in individuals with isolated forms. Despite the relative antiquity of the description of micronodular adrenal hyperplasia and the Carney comlex, a detailed study of pathophysiological mechanisms, genetic and clinical aspects of this pathology, nowadays, clinicians continue to face «atypical» cases. Thus, the nature of this disease is not well understood and requires further research. This review presents the accumulated data on micronodular adrenal hyperplasia, genetics aspects, and also describes 2 unique clinical cases of isolated PPNAD with unilateral adrenalectomy results.

Diagnosis of Carney complex following multiple recurrent cardiac myxomas

Carney complex is a rare syndrome caused by a genetic mutation leading to multiple endocrine abnormalities and a variety of tumors. Here, we report a case of Carney complex diagnosed due to recurrent multiple myxomas in the right atrium of a patient 16 years after the resection of the primary left atrial myxoma. Surgical excision was performed for the multiple recurrent right atrial tumors under cardiopulmonary bypass. The patient remained complication-free after surgery and was discharged on the 14th day. He was scheduled to continue echocardiographic follow-up and periodic systemic review by an endocrinologist. This case emphasizes the fact that if cardiac myxomas tend to be multiple and recurrent at a relatively young age, the possibility of Carney complex should be considered, even in the absence of any other related feature other than cardiac tumors.