Diagnosis and cardiac transplantation of a Carney syndrome-induced cardiac myxoma combined with dilated cardiomyopathy: a case report.

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. CASE PRESENTATION: 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.

A Case of Profound Obstructive Sleep Apnea Secondary to an Unrecognized Lingual Angiomyxoma.

A 44-year-old woman presented to the emergency department status post incidental discovery of a large lingual mass identified during workup of a known intracranial neoplasm. The patient presented with a 4-month history of progressive altered mental status, somnolence, aphasia, and dysphagia; symptomology was attributed to the suprasellar tumor. Metastatic disease to the oral cavity was the primary differential diagnosis. Imaging demonstrated a 5.5 × 5.5 cm posterior tongue mass with near complete pharynx obstruction. Prompt debulking and pathology workup occurred. On postoperative day 1, the patient experienced complete resolution of all symptoms. Given rapid improvement, neurological decline was ultimately attributed not to the suprasellar mass but instead as being secondary to profound obstructive sleep apnea and ensuing sleep deprivation caused by the lingual tumor. This case describes the rare finding of a massive lingual superficial angiomyxoma with a synchronous cerebral neoplasm in which the latter functioned as a diagnostic distraction.

Cerebral Embolism and MINOCA Secondary to Left Atrial Myxoma after Occlusion of Atrial Septal Defect by Amplatzer Occluder: A Case Report.

Primary heart tumors are rare, with atrial myxomas being the most common type. Atrial myxomas can lead to embolisms, heart obstruction, and systemic symptoms. Herein, we report a case of 72-year-old woman who presented with a left atrial myxoma at the atrial septal defect occluder, a new acute cerebral infarction, and MINOCA (myocardial infarction with no obstructive coronary atherosclerosis). Left atrial myxoma is a common primary cardiac tumor; however, left atrial myxomas arising after percutaneous atrial septal defect occlusion are rare. Additionally, the patient presented with a new case of multiple systemic emboli. The patient underwent surgical resection of a left atrial myxoma, occluder, and left atrium, and atrial septal repair, and was discharged with good recovery for outpatient follow-up. The possibility of a cardiac tumor, especially an atrial myxoma, which can lead to a series of complications, should be considered at the closure site after percutaneous atrial septal closure. Therefore, active surgical treatment and long-term follow-up are warranted in such cases.

Cardiac myxoma as a rare acute heart failure etiology in paediatrics: A case report.

Cardiac myxoma is extremely rare in children. However, if not treated immediately, it may cause varying symptoms until sudden death. A-9-years old male Javanese child was brought to the emergency department of Prof. Soekandar General Hospital, Mojokerto with progressive dyspnoea since one month which got worse in the left decubitus position. There was no significant past medical history. Physical examination revealed hypotension, mitral stenosis, tricuspid regurgitation, and pulmonary congestion. Transthoracic echocardiography revealed a round pedunculated 3x3.3 cm mass in the Left Atrium that swingingly moved to the Left Ventricle during diastole. This was diagnosed provisionally as Myxoma with a differential of thrombus. After stabilization, he was referred to a tertiary hospital for emergency excision. Histopathology confirmed the myxoma. There were no symptoms and activity limitations during the 6 months follow-up. To the best of our knowledge, this is the first paediatric cardiac myxoma with Acute Heart Failure symptoms reported in Indonesia. Echocardiography is imperative for diagnosing myxoma. Appropriate and timely management results in an excellent outcome.

Renal Embolism Associated with the Atrial Myxoma: A Case Report and Literature Review.

Renal embolisms due to cardiac myxomas are extremely rare; the clinical course, treatment, and prognosis of this disease are not established. A 69-year-old Japanese woman who underwent a nephrectomy for renal cell carcinoma 3 years earlier was hospitalized with a right occipital lobe cerebral infarction. Her renal function suddenly worsened 3 days post-admission: her serum creatinine rose from 1.46 mg/dL to 6.57 mg/dL and then to 8.03 mg/dL the next day, and hemodialysis therapy was started. Abdominal computed tomography (CT) scans showed patchy non-contrasted low-density areas in the right kidney, and chest CT scans and transesophageal ultrasonography revealed a left atrial tumor. We diagnosed renal infarction due to a left atrial myxoma. Hemodialysis and anticoagulant therapy (heparin) were continued, followed by the cardiac myxoma's resection. The patient's renal function gradually improved post-surgery, and the hemodialysis was discontinued. Considering our patient and 19 other case reports of renal infarction associated with cardiac myxoma, the treatment for such a renal infarction and the outcomes differ depending on the embolus site. The poor outcome of abdominal aortic embolism requires a prompt embolectomy, whereas a branch renal artery embolism requires anticoagulation therapy to prevent thrombosis formation around the myxoma.

A case report and literature review of Carney complex with atrial adenomyxoma.

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. Left atrial adenomyxoma and thyroid papillary carcinoma were identified by postoperative histologic assays. Genetic screening revealed a pathogenic germline heterozygous mutation of c.682C > T (p.R228X) in exon 7 of the PRKAR1A gene. The clinical features and normal ACTH levels suggest this patient suffered the ACTH-independent primary pigmented nodular adrenocortical disease (PPNAD) with cyclic hypercortisolism or ACTH-dependent Cushing syndrome. CONCLUSION: CNC is uncommon, however, if a patient develops clinical features involving multiple endocrine and non-endocrine tumors, especially Cushing syndrome and cardiac myxoma, CNC should be considered. Genetic analysis is recommended in patients with suspected CNC.

Extensive systemic thrombo-embolism including intra-cardiac thrombosis mimicking an atrial myxoma in a patient with beta thalassaemia major - a case report.

BACKGROUND: Sepsis and thrombo-embolic disease are well known complications of thalassemia major. Intracardiac thrombi are however rare and can lead to diagnostic dilemmas. CASE PRESENTATION: We report the case of a 20-year-old female splenectomised thalassaemia major patient with severe iron overload, who presented with life threatening sepsis associated with a liver abscess. Discovery of a large oscillating intra cardiac lesion on 2D echocardiogram confirmed by Contrast Enhanced Computed Tomography (CECT) chest in the right atrium extending from the left hepatic vein through the inferior vena cava complicated the clinical course. After a prolonged Intensive Care Unit (ICU) stay supported with antibiotics and anticoagulation, she recovered with evidence of resolution of the intra cardiac thrombus. CONCLUSIONS: Early recognition and prompt aggressive treatment of sepsis in patients with thalassemia is essential to prevent complications. Intracardiac thrombosis is a potentially treatable cause for an intra cardiac mass in patients with thalassemia major, which should not be missed.

Clinical Characteristics of Acute Lower Extremity Ischemia Due to Left Atrial Myxoma: A Rare Case Report with Review of Literature.

Emboli caused by cardiac myxomas mostly occur in the cardiovascular or cerebrovascular systems and rarely in the lower extremity vasculature. We introduce the rare case of a patient with left atrial myxoma (LAM) whose right lower extremity (RLE) suffered from acute ischemia due to tumor fragments, along with a review of the relevant literature, and highlight the clinical characteristics of LAM. An 81-year-old female presented with acute ischemia of RLE. Color Doppler ultrasound showed no blood flow signal far from the RLE femoral artery. Computed tomography angiography showed an occlusion of the right common femoral artery. A transthoracic echocardiogram revealed a left atrial mass. Femoral artery embolectomy was performed under local anesthesia, followed by thoracotomy with tumor resection under general anesthesia on postoperative day seven. The tumor was pathologically confirmed as an atrial myxoma. A literature search of the PubMed database returned 58 cases of limb ischemia due to LAM, and the conclusions drawn from the statistical analysis were that emboli from LAM occurred most commonly in the aortoiliac and bilateral lower limb vasculature and were rarely associated with upper extremity and atrial fibrillation. Multisystem embolism is characteristic of cardiac myxoma. The removed embolus should be examined pathologically for signs of a cardiac myxoma. Lower-limb embolisms should be promptly diagnosed and treated to avoid osteofascial compartment syndrome.

[Coronary Artery-Left Atrial Fistula Complicated by a Left Atrial Myxoma:Report of a Case].

We report our experience with a case of a left atrial mass coexisting with a coronary artery-left atrial fistula. The abnormal vessels extended from the right coronary artery and left circumflex artery to the tumor in the left atrium and were aggregated within the tumor. An efflux of the contrast media was also noted from the tumor into the left atrium. Tumor resection and ligation of the abnormal vessels were performed as surgical interventions. The outcomes were favorable. The tumor was pathologically diagnosed as a myxoma, but its association with the abnormal vessels was unknown.

Extent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.

Mazabraud's syndrome (MZB) is a rare condition in which fibrous dysplasia of bone/the McCune-Albright syndrome (FD/MAS) co-exists with intramuscular myxomas. Both FD and the myxomas harbor the GNAS-mutation. Recent studies have shown that extraskeletal, GNAS-related features are associated with a more severe phenotype of FD/MAS. However, patients with MZB are often only seen by orthopedic surgeons. We therefore evaluated MZB patients seen in tertiary referral centers from the Netherlands (LUMC), USA (National Institutes of Health) and France (INSERM UMR 1033 (Lyos), Hôpital Edouard Herriot). All FD/MAS patients known in these centers with an additional diagnosis of a myxoma were included. Demographic information and data on disease extent and extraskeletal manifestations of FD/MAS such as precocious puberty (PP) or café-au-lait patches (CAL) were retrieved from patient's medical records. Thirty MZB patients were included: 20 women (67%) and 10 men (33%). Patients received a diagnosis of MZB (median 42 years, range 16-19) significantly later than the diagnosis of FD/MAS (median 30 years, range 0-60), p < 0.01. Twenty-six patients were diagnosed with polyostotic disease (87%). In 97% the myxoma was located near the skeletal FD lesion. The combination of MZB and MAS was made in 13 patients in whom PP (n = 7), CAL (n = 7), GH-excess (n = 3) and hyperthyroidism (n = 3) were present. Other extraskeletal features were (multinodular) goiter (n = 2) and thyroid cysts (n = 1). Furthermore, in this cohort of patients with MZB several (pre-)malignant tumors were observed; ductal carcinoma in situ of the breast in 3 patients (10%), breast cancer in 1 patient (3.3%), intra pancreatic mucinous neoplasms in 3 patients (10%) and liver adenomas in 2 patients (6.6%). A total of 47% of patients with MZB had an additional extraskeletal feature such as an endocrinopathy. In MZB, 87% of patients suffer from polyostotic FD, 43% of patients have extraskeletal GNAS-features such as an hyperfunctioning endocrinopathy and 30% (pre-)malignant tumors. We therefore advocate that MZB patients should undergo a complete screening and long-term follow-up for extent of bone disease, but also extraskeletal GNAS features of FD/MAS.

Left atrial myxoma: an unusual cause of pre-syncope and symptomatic bradycardia.

BACKGROUND: Atrial myxomas account for approximately 50% of all primary cardiac tumors. The size, location, risk of embolic event, and involvement of other cardiac structures, are all factors that contribute to the wide range of presentation for cardiac myxomas. Patients with myxomas may remain asymptomatic, while others may report symptoms such as fatigue and fever, dyspnea, and syncope. It is important to recognize arrhythmias as an uncommon symptom of myxomas. CASE PRESENTATION: We report a rare case of a 67-year-old man who presented with pre-syncopal episodes, symptomatic bradycardia, and night sweats found to have a 5.5 × 5.1 × 3 cm myxoma in the left atrium. During diastole the mass caused dynamic flow obstruction across the mitral valve. The patient underwent surgical resection of the mass given his symptomatology and risk of embolic events. Removal of the myxoma resulted in resolution of both pre-syncopal episodes and the patient's sinus bradycardia. CONCLUSION: Atrial myxomas are a rare cause of pre-syncope and symptomatic bradycardia. It is important to have a clinical suspicion for atrial myxomas given early diagnosis and surgical intervention are key in improving the prognosis of these patients. This case also highlights the importance of taking into account the source of the myxoma's blood supply in relationship to other cardiac structures, and further correlating these findings with clinical symptoms.

Atrial myxoma surgery and P-wave remodeling.

INTRODUCTION: Data regarding atrial electrocardiographic parameters in patients with atrial myxomas are scarce. METHODS: We aimed to study atrial electrocardiographic features in patients with atrial myxomas, before and after surgery. We also analyze the incidence of atrial fibrillation during follow-up and its correlation with different P-wave indexes. In total 32 patients in sinus rhythm that underwent atrial myxoma surgery were included. RESULTS: Mean age was 55.0 ± 12.6 years and 18 (56.3%) were women. Ten patients had left atrial enlargement (31.3%). Only one myxoma was located in the right atrium. At baseline seven cases of partial interatrial block (IAB) were detected (21.9%), two in the absence of left atrial enlargement. There were significant differences in atrial electrocardiographic indexes before and after surgery, including P-wave duration (108.9 ± 17.9 ms vs. 93.0 ± 12.4 ms; p < .001), partial IAB (21.9% vs. 3.1%; p = .012) and duration of P-wave terminal force in lead V1 negativity (-0.6 ± 0.3 vs. -0.5 ± 0.3 mm; p = .034). At a mean follow-up of 10.0 ± 5.5 years, 10 patients (31.3%) had experienced at least one episode of atrial fibrillation. Post-operative P-wave duration was associated with atrial fibrillation occurrence during follow-up (Hazard ratio: 0.90, 95% confidence interval: 0.83-0.98; p = .020). CONCLUSIONS: Abnormalities in atrial electrocardiographic indexes are common in atrial myxomas and frequently improve after surgery. Post-operative P-wave duration is associated with atrial fibrillation occurrence during follow-up.

Massive left atrial thrombus evades multimodality imaging as a myxoma in a bicaval heart transplant recipient.

Intracardiac masses are an extremely rare and poorly described complication following a bicaval heart transplantation. We describe the case of an asymptomatic 62-year-old male with a large left atrial mass found incidentally on transthoracic echocardiography 6 years post-transplant. A battery of additional imaging tests was ordered including transesophageal echocardiography, 18 F-fluorodeoxyglucose positron emission tomography/computed tomography, and T1 and T2 magnetic resonance imaging. Although imaging biomarkers were generally nonspecific, the mass was most consistent with a cardiac myxoma. However, intraoperative findings confirmed by pathology revealed a massive organizing thrombus. The patient had an uneventful recovery after surgical removal of the mass. Our case highlights a very rare phenomenon in heart transplant recipients which remains a unique diagnostic challenge even with current advances in imaging.

Right Ventricular Outflow Tract Myxoma with Absent Pulmonary Valve.

Myxoma is the most common benign cardiac tumor. Absent pulmonary valves, often treated surgically in childhood, are associated with 3-6% of tetralogy of Fallot. It is unusual for absent pulmonary valves without other congenital heart diseases to be asymptomatic until adulthood. Here, we report the unique case of an 80-year-old female with right ventricular outflow tract myxoma and absent pulmonary valve that has, to our knowledge, never been reported. We successfully performed a simple mass resection and pulmonary valve implantation.

Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature.

BACKGROUND: "Carney Complex (CNC) is a familial lentiginosis syndrome, caused by PRKAR1A mutations that lead to cyclic AMP-dependent protein kinase (PKA) signaling pathway abnormalities, predisposing to a variety of skin tumors, myxomas and endocrine tumors. METHODS/RESULTS: We describe a Greek family diagnosed with CNC after recurrent embolic strokes, secondary to left-sided atrial myxomas. There are limited cases in the literature describing this type of presentation for CNC; typically, most cases present with an endocrine syndrome. Our case serves as a reminder of this rare, underdiagnosed syndrome and its wide phenotypic spectrum. It is followed by a review of the current literature on cases with cerebrovascular disease as a manifestation of CNC. CONCLUSION: The co-occurrence of emboligenic cardiac myxomas and skin lesions should be an indication for screening for CNC.

[Surgery for a Massive Left Atrial Myxoma, Four Hours after a Thrombectomy for a Cerebral Embolism:Report of a Case].

A 48-year-old female patient was transferred with dysarthria and left-sided hemiplegia. Contrast-enhanced computed tomography revealed occlusion of the first branch of the right middle cerebral artery, for which an emergency thrombectomy was successfully performed within 2 hours of patient's initial symptoms. Postoperatively, transthoracic echocardiography revealed a massive mobile left atrial mass, measuring approximately 65×30 mm, a part of which moved in and out of the mitral valve without significant mitral regurgitation. Embolisms to the kidneys and the spleen were demonstrated. Another emergency cardiac surgery was performed, 4 hours after the thrombectomy, to resect the mass from the fossa oval with the atrial septum;the defect was closed using autologous pericardium. The histopathological findings of the specimen were consistent with a myxoma. The patient completely recovered and was discharged when ambulatory. We have discussed the importance of the timing of surgical intervention in the context of patients undergoing cardiac surgery after a cerebral embolism.

[Minimally Invasive Cardiac Surgery for a Left Atrial Myxoma with Atrial Septal Defect:Report of a Case].

A 48-year-old woman presented with abnormal electrocardiogram was diagnosed as having a left atrial tumor by echocardiography. She was asymptomatic and had no history of cardiac abnormality. Transthoracic echocardiography revealed a relatively hyperechoic and heterogenous tumor with the diameter of 5~6 cm originated from the left atrial septum but could not detect atrial septal defect. Transesophageal echocardiography showed atrial septal defect of fossa ovalis but failed to uncover shunt flow behind the tumor. We diagnosed as left atrial myxoma complicated with atrial septal defect, and an operation was performed through small right intercostal thoracotomy. The tumor was excised and the atrial septal defect was completely repaired after pulmonary vein isolation. The post-operative course was uneventful. Cardiac myxoma coexisting atrial septal defect is rare, and preoperative transesophageal echocardiography is considered essential for the diagnosis of coexistent lesions especially in the patients minimally invasive cardiac surgery is planned.was uneventful. Cardiac myxoma coexisting atrial septal defect is rare, and preoperative transesophageal echocardiography is considered essential for the diagnosis of coexistent lesions especially in the patients minimally invasive cardiac surgery is planned.

[A case of clinically malignant rapid-progressive cardiac myxoma after COVID-19 infection].

This article presents a clinical case of urgent, life-saving surgical intervention in a 69-year-old woman with left atrial myxoma with rapid morphological and clinical progression and a history of COVID-19 and breast cancer in remission. However, the concurrent (perhaps secondary) thrombophilic condition facilitated the complication development in the form of superior vena caval orifice thrombosis in the early postoperative period. For this complication, repeated surgery in the volume of thrombectomy was performed, which resulted in stabilization of the patient's condition.

A case report of left atrial myxoma presenting with amnesia.

BACKGROUND: Primary cardiac tumors are rare, and approximately 90% of them are benign. Myxoma is the most common type of these tumors occurring in the left atrium in 75-85% of cases. The tumor can cause the left atrio-ventricular valve obstruction and embolization phenomenon. Case presentation We reported a case of 54-year-old man with complaints of dyspenea and amnesia. In our patient, transthoracic echocardiography revealed a mass of 28*63 mm attached to the upper intra-atrial septum, which was prolapsing through the mitral valve into the left ventricle during diastole, being indicative of the left atrial myxoma. On examination, he was alert and conversant, and no pathological abnormality was observed in the examination of cardiovascular, gastrointestinal, respiratory, hepatic, renal and nervous systems. After myxoma diagnosis, the tumor was removed under cardiac surgery and discharged under good conditions. In the telephone follow-up after discharge, the patient recovered and did not report the disease and surgery complications. CONCLUSIONS: Patients with cardiac myxoma are usually asymptomatic, but they may have manifestations related to the embolism phenomenon or intracardiac obstruction. Therefore, myxoma may represent an emergency. Surgery should be performed as soon as possible. If surgery is delayed, the patient may suffer from serious and irreversible complications, such as stroke and cardiac arrest.

Aortic valve myxoma-A systematic review of published cases.

BACKGROUND: Aortic valve myxoma is the rarest location of the most common primary tumour of cardiac origin. Because of the paucity of data, there is little known about their clinical presentation, diagnosis and complications. METHODS: PUBMED, EMBASE, SCOPUS and WEB OF SCIENCE were systematically searched to identify all published cases of aortic valve myxoma through October 2020. Descriptive statistics were used to report the data. RESULTS: Aortic valve myxomas were more prevalent in young (mean age 41 years) male (75%) patients. It most commonly involved the right coronary cusp (50%). Cerebrovascular events (25%), dyspnoea (18.8%), and distal embolisation (18.8%) were found to be the most frequent complications. Echocardiography remains the diagnostic modality of choice in all cases, histopathology is used for confirmation. Most cases were treated with surgical excision (94%); concomitant aortic valve repair and mechanical aortic valve replacement were performed in 25% and 37.5% cases respectively. Sudden cardiac death was noted in one patient. CONCLUSION: Aortic valve myxomas are more often than not discovered in the context of embolic phenomenon or dyspnoea. The most feared complication is stroke, although mortality remains low in surgically managed cases.