BACKGROUND: Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome, affecting over 80% of individuals with this condition. This syndrome is characterized by a triad of myxomas, skin pigmentation, and endocrine hyperfunction, featuring multiple endocrine neoplasms with skin and cardiac involvement. Dilated cardiomyopathy, a primary cardiomyopathy, is defined as the dilation and impaired systolic function of the left or both ventricles. Its clinical presentation varies from being asymptomatic to heart failure or sudden cardiac death, making it a leading global cause of heart failure. Currently, Dilated cardiomyopathy has an estimated prevalence of 1/2500-1/250 individuals, predominantly affecting those aged 30-40 years, with a male-to-female ratio of 3:1. This case report describes a heart failure patient with cardiac myxoma caused by Carney syndrome combined with dilated cardiomyopathy. The patient was successfully treated for heart failure by heart transplantation.
METHODS: Herein, we report a case of heart failure due to Carney syndrome that resulted in cardiac myxoma combined with dilated cardiomyopathy. A 35-year-old male was admitted to the hospital three years ago because of sudden chest tightness and shortness of breath. Echocardiography indicated myxoma, and a combination of genetic screening and physical examination confirmed Carney syndrome with cardiac myxoma. Following symptomatic management, he was discharged. Surgical interventions were not considered at the time. However, the patient\'s chest tightness and shortness of breath symptoms worsened, and he returned to the hospital. A New York Heart Association grade IV heart function was confirmed, and echocardiography indicated the presence of dilated cardiomyopathy accompanied by cardiac myxoma. Ultimately, the patient\'s heart failure was successfully treated with heart transplantation.
CONCLUSIONS: Cardiac myxoma caused by Carney syndrome combined with heart failure caused by dilated cardiomyopathy can be resolved by heart transplantation.

BACKGROUND: The presence of a primary cardiac tumor in a pediatric patient is a rare echocardiographic finding.
METHODS: We report the case of an 11-year-old female patient with multiple peripheral embolisms, due to a gigantic left ventricular tumor, with a unique echocardiographic appearance. The patient was referred to the emergency department due to acute pain and loss of sensitivity in both of her legs. Past medical history was significant for acute lymphoblastic leukemia. Upon physical examination, suspicion of bilateral lower leg ischemia was raised. Doppler arterial ultrasound of both legs confirmed the suspicion mentioned above, as the right lower extremity suffered from partial arterial occlusion of the external iliac artery and total occlusion of the femoral arteries. Meanwhile, in the left lower extremity, the occlusion was localized in the proximal tibio-peroneal artery. Cardiac sonography revealed a massive, mobile, left ventricular intracavitary mass. Aside from its large dimensions (6.3 cm by 3 cm), its aspect was striking as well as it had very mobile and friable edges. Emergency bilateral endarterectomy and excision of the left ventricular tumor were performed alongside systemic anticoagulant therapy, with excellent results, as no tumoral residual masses could be seen in the left ventricle, and the arterial blood flow was restored completely in both lower extremities. The histopathological aspect of the excised masses was that of a myxoma. The patient recovered well after surgery and was discharged on postoperative day 14.
CONCLUSIONS: Despite only a handful of cases of cardiac myxomas being reported due to their rarity in the pediatric population, clinical presentation with peripheric embolism triggered a high index of suspicion of embolic mechanism in our patient and prompted a rapid assessment and successful management.

UNASSIGNED: Primary cardiac tumors are often benign and commonly present as cardiac myxomas (CMs) or papillary fibroelastomas (CPFEs). There is a paucity of prognostic indicators for tumor burden or potential for embolic cerebrovascular events (CVEs). This study was performed to address these gaps.
UNASSIGNED: Medical records at the University of Florida Health Shands Hospital between 1996 and 2021 were screened to identify patients with CMs or CPFEs. Clinical features, echocardiographic reports, and CVE outcomes were quantitatively assessed.
UNASSIGNED: A total of 55 patients were included in the study: 28 CM (50.9%) and 27 CPFE (49.1%) patients. Baseline patient characteristics were similar among patients. The neutrophil-lymphocyte ratio was correlated (p < 0.005 in all cases) to three metrics of tumor size in both CM (r = 64-67%) and CPFE (r = 56-59%). CVEs were the presenting symptom in 30 (54.5%) patients. CVE recurrence was high; the 5-year CVE recurrence rate in patients with tumor resection was 24.0% compared to 60.0% without resection. No baseline patient characteristics or tumor features were associated with an initial presentation of CVEs compared to any other indication. Univariate analysis indicated that prolonged duration to surgical resection, left atrial enlargement, male sex, and a neutrophil-lymphocyte ratio >3.0 at the follow-up were significantly associated with 5-year CVE recurrence. Left atrial enlargement and a neutrophil-lymphocyte ratio >3.0 at the follow-up remained significantly associated with 5-year CVE recurrence in multivariate analysis.
UNASSIGNED: The neutrophil-lymphocyte ratio may prognosticate tumor size and recurrence of neurologic events. An increased risk of CVE within 5 years of mass resection is almost exclusive to patients initially presenting with CVEs.

Primary cardiac tumors are rare, and cardiac myxoma (CM) accounts for the majority of these tumors. Most of the reports in the literature are case reports. This study summarizes our clinical experience in the surgical treatment of CM over the past 12 years.
We retrospectively analyzed the clinical data of 23 children with CM(8 boys, 15 girls; median age: 8.92 months, range: 2 years 5 months-12 years 9 months; body weight: 11-45 kg, median body weight: 28.21 kg) admitted to our hospital in the previous 12 years, and we statistically analyzed their clinical manifestations and surgical methods.
23 cases underwent myxoma excision under cardiopulmonary bypass(CPB). The follow-up period was 0.2 to 12.6 years (mean:7.2 years). Two patients could not be traced, and the follow-up completion rate was 91.30%. One patient (4.35%) died of myocardial infarction early after surgery with low continuous cardiac output. There were no cerebral embolism, acute heart failure, atrioventricular block and other related complications in 19 cases. A patient with cerebral infarction complicated with right hemiplegia recovered well after rehabilitation treatment. There was no recurrence of CM in 19 cases and all patients recovered after surgery. One patient relapsed 5 years after surgery, and no tumor recurrence was observed after the second surgery. Among the 20 long-term survivors, 13 (65.00%) were NYHA Class I patients and 7(35.00%) were NYHA Class II patients.
Although CM in children is rare, it may cause cerebral infarction and other multi-organ embolism. Once CM is found and removed as soon as possible, it can reduce serious complications. If the complete resection is possible, surgery provides better palliation. Follow-up echocardiographic should be paid attention to after surgery.

Cardiac neoplasms are rare, however, also a curable form of the disease once detected early. In recent years the viscus tumors have gained their highlights, due to the advancement in techniques like echocardiography both 2D and 3D, MRI, etc. These cardiac tumors are divided based on their benign and malignant nature and also as well as primary and secondary cardiac tumors. Largely the primary cardiac tumors are often than secondary cardiac tumors. The secondary tumor happens anywhere in the body involving the heart. The most common malignant tumors are sarcoma, some are angiosarcomas, fibromas, rhabdosarcoma, and leiomyosarcoma. The primary sarcoma affects both men and women at an equal rate with non-specific symptoms. These conditions led to high demand in genomic testing that helps in spot the mutation that leads to the particular type of cardiac neoplasm and it additionally helps to screen the mutated sequence and stop it from being inherited. Recent studies on cardiac tumors have revealed many genes that are involved in tumorigenesis and technologies have enabled the right screening of the tumor location within the heart and their histopathological studies were also studied. This review principally focuses on the understanding of the various forms of cardiac tumors, genetic variants involved and their influence, genetic testing, and different diagnostic approaches in cardiac tumors.

UNASSIGNED: This is a case report of a patient with a conjunctival myxoid stromal tumor (COMST), mimicking a phlyctenulosis. Tumors of the conjunctiva and cornea occupy a large spectrum ranging from benign lesions of myxoma to aggressive, life-threatening malignancies. Phlyctenulosis and phlyctenular keratoconjunctivitis are hypersensitivity reactions to a foreign antigen.
UNASSIGNED: A 64-year-old male presented with six-month history of non-painful lump in the conjunctiva of the left eye. It was a mobile, non-tender, non-ulcerated, non-hemorrhagic, non-pigmented lesion and was non-adherent to the sclera. The differential diagnosis of phlyctenulosis or a soft tissue tumor was considered. The lesion was completely excised. The microscopy showed an ill-defined hypocellular myxoid lesion composed of stellate and spindle-shaped cells with eosinophilic cytoplasm, containing round-ovoid and spindle-shaped nuclei with a vesicular chromatic pattern. The tumor cells were diffusely and strongly positive for vimentin and CD 34 and were negative for S100. The immunomorphological features were compatible with a conjunctival myxoid stromal tumor. Complete systemic evaluation excluded the possible association with systemic myxomas.
UNASSIGNED: Myxoid tumors of the conjunctiva are benign tumors, however, they can mimic other benign conditions like phlyctenulosis or more sinister lesions like malignant tumors. Therefore, it is important to do an excisional biopsy to ascertain the definitive pathology of an indeterminate conjunctival lesion. COMST may be the index presentation for the detection of previously undiagnosed myxoma syndromes. One such association is with cardiac myxomas, which can result in vascular embolic events. Therefore, it is important to do cardiac screening in all patients diagnosed with a COMST.

In this part 1 of a 2-part continuing medical education series, we review the epidemiology and pathophysiology of cardiovascular disease, its association with cutaneous symptoms, and the diagnosis and evaluation of cutaneous features of cardiovascular syndromes, including infective endocarditis, acute rheumatic fever, Kawasaki disease, cholesterol embolization syndrome, lipid disorders, cardiac amyloidosis, and cardiac myxomas. As the incidence and prevalence of cardiovascular diseases increase, dermatologists play an essential role in recognizing the cutaneous manifestations of cardiovascular diseases in order to appropriately connect patients with follow-up care.

Background and objective Myxomas are the most common cardiac tumors. This study aimed to analyze the possible risk factors associated with late mortality in this group of patients and assess long-term survival. Methods A retrospective study was conducted among patients who underwent myxomas resection between January 2008 and July 2019 in our service. The patients\' preoperative, intraoperative, and postoperative data were analyzed. Multivariate logistic regression was performed to identify predictors of mortality at five years. The Kaplan-Meier curve and Cox proportion-adjusted survival curves were used to assess mortality at five and 10 years. Results A total of 108 patients with cardiac myxomas were identified. All cardiac tumors resected were confirmed as myxomas on histopathological examination. Ninety-six patients presented with left-side myxomas (94 left-atria and two left-ventricle) and 12 with right-side myxomas (11 right-atria, one right-ventricle); 78 of the tumors were capsulated, and 30 were sessile-papillary. The mean dimensions were 37 ±6.1 mm on the left side and 41 ±6.7 mm on the right side. Surgical excision was successful in all cases, with 25% requiring interatrial septum patch repair. Recurrence occurred in 2.77% of the patients. Multivariate logistic regression showed chronic kidney disease (CKD) (OR: 7.96, 95% CI: 1.469-43.125, p=0,016) to be an independent predictor for five-year mortality. The mean follow-up period was 7.13 ±2.965 years, and the Kaplan-Meier curve cumulative proportion survival of patients at five years and 10 years were 100% and 88.8%, respectively. There was no statistically significant difference in late-term survival between patients with and without CKD in the Cox proportion-adjusted survival curve (p=0.275). Conclusions Patients with myxomas have a good long-term prognosis following surgical resection. The multivariate logistic regression showed CKD to be an independent predictor of five-year mortality.

A 73-year-old man presented with lower back pain and bilateral palmar lesions. Urine culture grew Streptococcus agalactiae and C-reactive protein was raised. He was treated with antibiotics for urinary tract infection with suspected pyelonephritis. An echocardiogram ordered to look for infective endocarditis was suggestive of a left atrial myxoma. He subsequently developed an acute right common iliac artery embolus, which resolved with conservative management. He underwent a successful open-heart left atrial mass and appendage resection, with histopathology confirming atrial myxoma. Skin biopsies of the lesions ten weeks post onset showed granuloma annulare of the palms.

BACKGROUND: Cardiac myxomas are benign tumors that commonly arise within the left atria. Familial cardiac myxomas are a part of Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome caused by germline mutations in PRKAR1A. Seven percent of cardiac myxomas are associated with CNC. To date, the genetic basis of isolated cardiac myxomas (ICM), however, has not been fully elucidated.
METHODS: We investigated the genetic profile of ICM using whole exome sequencing (WES). Suspected mutations were confirmed using targeted sanger sequencing. To further examine the presence of PRKAR1A mutations in ICM, we performed targeted sequencing in an additional 61 ICM specimens.
RESULTS: 87.5% (7/8) of ICM harbored mutations in PRKAR1A. Three of the 8 ICM harbored biallelic somatic mutations of PRKAR1A, including c.607_610del:p.Leu203fs (pathogenic) + c.C896G:p.Ser299X (pathogenic), c.952delT:p.Leu318fs (pathogenic) + c.769-2 A>G (pathogenic) and c.178-1 G>C (pathogenic) + c. 550+1 G>C (pathogenic). Four of 8 tumors harbored monoallelic PRKAR1A mutations, including c.523_524insG:p.Tyr175_Val176delinsX (pathogenic), c.C920A:p.Ser307X (pathogenic), c.30delG:p.Glu10fs (pathogenic) and c.C289T:p.Arg97X (pathogenic). No identical variants were observed across the 8 ICM samples. Interestingly, none of these variants have been previously described in familial cardiac myxomas. In order to confirm our findings, directed sequencing of 61 ICM specimens was subsequently performed. Sixty-four percent (39/61) of ICMs tumors contained inactivating PRKAR1A mutations.
CONCLUSIONS: Our findings suggest that loss-of-function mutations of PRKAR1A may play a vital role in the formation of isolated cardiac myxomas.