Carney complex cardiac myxoma

Pediatric pulmonary embolism occurs in 8.6-57 per 100,000 hospitalised children. We report a novel case of bilateral pulmonary emboli in a child presenting with dyspnoea who was found to have large right ventricular myxoma and subsequent diagnosis of Carney complex. After resection of the right ventricular myxoma and bilateral pulmonary embolectomy, she had a full recovery and an excellent outcome.

PURPOSE: Cardiac myxomas (CMs) are the second most common benign primary cardiac tumors, mainly originating within the left atrium. Approximately 5% of CM cases are associated with Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome often caused by germline mutations in the Protein Kinase A regulatory subunit 1A (PRKAR1A). Data concerning PRKAR1A alterations in sporadic myxomas are variable and sparse, with PRKAR1A mutations reported to range from 0% to 87%. Therefore, we investigated the frequency of PRKAR1A mutations in sporadic CM using next-generation sequencing (NGS)...

OBJECTIVE: Carney complex (CNC) is a rare genetic syndrome, mostly due to germline loss-of-function pathogenic variants in PRKAR1A. Carney complex includes pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, and various breast benign tumors. DESIGN: The present study was designed to describe the characteristics of breast lesions in CNC patients and their association with other manifestations of CNC and PRKAR1A genotype. METHODS: A 3-year follow-up multicenter French prospective study of CNC patients included 50 women who were analyzed for CNC manifestations and particularly breast lesions, with breast imaging, genotyping, and hormonal settings...

Cardiac tumours can occur in association with genetic syndromes. Rhabdomyomas have been reported in association with tuberous sclerosis, myxomas with Carney's complex, cardiac fibromas with Gorlin syndrome, and paragangliomas with multiple endocrine neoplasm syndrome. The presentation and prognosis of cardiac tumours associated with genetic syndromes differ compared with sporadic cases. Knowledge about the associated syndromes' genetic features and extracardiac manifestations is essential for the diagnosis, prognosis, and management of cardiac neoplasms...

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...

BACKGROUND: Cardiac Myxoma is a primary tumor of heart. Its origins, rarity of the occurrence of primary cardiac tumors and how it may be related to limited cardiac regenerative potential, are not yet entirely known. This study investigates the key cardiac genes/ transcription factors (TFs) and signaling pathways to understand these important questions. METHODS: Databases including PubMed, MEDLINE, and Google Scholar were searched for published articles without any date restrictions, involving cardiac myxoma, cardiac genes/TFs/signaling pathways and their roles in cardiogenesis, proliferation, differentiation, key interactions and tumorigenesis, with focus on cardiomyocytes...

Carney syndrome is an autosomal dominant complex involving endocrinopathy, mucocutaneous hyperpigmentation, and different tumors, including cardiac myxomas. We report on a single family with several members affected with Carney syndrome. Family and individual medical histories were investigated in several Canadian provinces. The histology slides were also reviewed. Four family members (two young women, both sisters, their mother, and maternal grandmother) were found to harbor Carney syndrome. Everyone presented with multiple and recurrent atrial myxomas of the heart, requiring multiple open cardiac surgeries...

Cardiac myxomas (CM) are one of the most common benign tumors which are typical in adults with a yearly incidence of 0.5-1 case per million individuals. This review article includes discussions based on existing literature on the role of interleukin interactions in the pathophysiology of cardiac myxoma which can lead to embolic complications, aneurysms, and CNS involvement. The objective of this narrative review was to study the variable clinical presentations of cardiac myxoma, its detection and diagnosis involving multiple modalities like genetic and hematological testing, echocardiography, CT, and MRI, of which transoesophageal echocardiogram shows excellent precision with a 90% to 96% accuracy in diagnosing CM...

Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often missed under routine genetic testing. Pathogenic variants in PRKAR1A are identified in most cases, while large exonic or chromosomal deletions have only been reported in a few cases. Our aim was to identify the causal genetic alteration in our kindred with a clinical diagnosis of CNC and prove its pathogenic role by functional investigation...

No abstract text is available yet for this article.

The most common primary cardiac tumors in adults are atrial myxomas, with adolescent-onset being uncommon. In this case report, a 15-year-old female was hospitalized with cerebrovascular embolism and later diagnosed with a left atrial myxoma. She had previously shown signs of distal vascular micro thrombosis, including recurring bilateral lower extremity rash, which are crucial for the early diagnosis and differential diagnosis of atrial mucinous neoplasm. We reviewed the various clinical symptoms and diagnostic approaches to identify left atrial mucinous neoplasm...

No abstract text is available yet for this article.

Carney complex is rare neoplastic disorder. Intracardiac myxoma presenting the most common non-cutaneous lesions in this complex. We are reporting a 31-year-old Saudi female known case of Carney complex presented with asymptomatic biatrial myxoma that was identified on routine transthoracic echocardiogram, and was successfully excised. However, these patients need a careful surveillance in order to detect any new masses and prevent their complications.

A 33-year-old woman with a history of high blood pressure since she was 8 years old, hypothyroidism, polycystic ovary syndrome, metabolic syndrome, multiple nevi, and a maternal family history of death at age 50 due to malignant high blood pressure and heart failure. Cushing's syndrome secondary to a secretory pituitary microadenoma was diagnosed, being the cause of secondary arterial hypertension, and ruling out other causes such as renal stenosis and coarctation of the aorta. A transthoracic and transesophageal echocardiogram was performed, which detected a left atrial myxoma...

BACKGROUND: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome characterized by mucocutaneous lentigines/ blue nevi, cardiac myxoma and endocrine overactivity. Here, we report a CNC case with PRKAR1A gene mutation characterized by left atrial adenomyxoma to explore the diagnosis and treatment of CNC. CASE PRESENTATION: A 42-year-old woman with a history of cardiac tumour surgery presented with typical features of Cushing syndrome, including central obesity, buffalo hump, mild facial plethora, purple striae on the lower abdomen, and spotty skin pigmentation...

Cardiac myxoma recurrence is uncommon following surgical resection. Recurrence is about 2-3% in familial cases; however, recurrence is uncommon in sporadic cases. Most of the recurrences will occur during the first three to four years. Ten percent of myxomas are of the inherited autosomal dominant disorder called Carney's complex, while the rest appear sporadic. We are reporting a nonfamilial case of atrial myxoma, recurring rapidly seven years after resection of the initial left atrial myxoma with a pathologically proven clear margin and no malignant transformation...

Cardiac myxoma is a relatively rare tumour, usually solitary, that occurs primarily in the left atrium of adults, but comprises only 30% of cardiac tumours in children. We recently treated a 12-year-old girl with multiple recurrent myxomas in three cardiac chambers(following surgical resection 3 years earlier). Genomic analysis showed the PKAR1A mutation typical for Carney complex.

BACKGROUND: With recent advances in cardiac surgery through minimal access, mini-thoracotomy has emerged as an excellent alternative for cardiac myxoma resection. This study analyzed the surgical results of this approach, focusing on postoperative cerebral embolism and tumor recurrence. METHODS: We retrospectively reviewed 64 patients (mean age, 56.0±12.1 years; 40 women) who underwent myxoma resection through mini-thoracotomy from October 2008 to July 2020...

INTRODUCTION: Ear myxoma is a rare benign tumor sometimes located on the pinna and the external auditory meatus, associated with Carney Complex (CNC). However, tympanic membrane myxoma has never been described. We present here a case of bilateral tympanic membrane myxoma, following CARE guidelines. OBSERVATION: A 35-year-old woman presented to our department with right otalgia. Otoscopy showed non-specific bilateral tissular masses in the posterior quadrant of the tympanic membranes, with normal hearing thresholds...

Myxomas are slowly growing benign neoplasms which are rare in children. Up to 80% can be located in the left atrium and generate symptoms such as embolism, cardiac failure, fever and weight loss. Rarely, myxomas can be detected in the right ventricle outflow tract, causing arrhythmias, pulmonary emboli and sudden death. We report the case of a 13-year-old healthy child brought to the Emergency Department (ED) of the Children's Hospital Bambino Gesù, Rome, for recent dyspnea, chest pain on exertion and new onset cardiac murmur...