Mixoma auricular gigante como diagnóstico diferencial de disnea: a propósito de un caso y revisión de la literatura / Giant atrial myxoma as differential diagnosis of dyspnea: a case report and literature review

Cardiac myxomas are the most common benign primary tumors and are most often located in the left atrium at the level of the interatrial septum, with the characteristic of being pedunculated and highly mobile, which is why they sometimes interfere with the functioning of the mitral valve, generating variable degrees of stenosis and mitral insufficiency. Diagnosis is by echocardiography and treatment is surgical resection. We present the case of a patient with a large atrial myxoma and severe double mitral lesion.

Somatic PRKAR1A mutation in sporadic atrial myxoma with cerebral parenchymal metastases: a case report.

BACKGROUND: Atrial myxomas are generally considered benign neoplasms. The majority of tumors are sporadic and less than 10% are associated with an autosomal dominant condition known as the Carney complex, which is most often caused by germline mutation in the gene PRKAR1A. Whether this gene plays a role in the development of sporadic myxomas has been an area of debate, although recent studies have suggested that some fraction of sporadic tumors also carry mutations in PRKARIA. Extra-cardiac complications of atrial myxoma include dissemination of tumor to the brain; however, the dissemination of viable invasive tumor cells is exceedingly rare. CASE PRESENTATION: We present here a 48-year-old white woman who developed multiple intracranial hemorrhagic lesions secondary to tumor embolism that progressed to 'false' aneurysm formation and invasion through the vascular wall into brain parenchyma 7 months after resection of an atrial myxoma. Whole exome sequencing of her tumor revealed multiple mutations in PRKAR1A not found in her germline deoxyribonucleic acid (DNA), suggesting that the myxoma in this patient was sporadic. CONCLUSIONS: Our patient illustrates that mutations in PRKAR1A may be found in sporadic lesions. Whether the presence of this mutation affects the clinical behavior of sporadic tumors and increases risk for metastasis is not clear. Regardless, the protein kinase A pathway which is regulated by PRKAR1A represents a possible target for treatment in patients with metastatic cardiac myxomas harboring mutations in the PRKARIA gene.

Image of the month: Ventricular myxoma mimicking hypertrophic cardiomyopathy.

A 5-year-old boy with an incidentally detected cardiac murmur was referred for evaluation. Tall R waves were noted in the electrocardiogram in leads V3 and V4. Transthoracic echocardiography suggested asymmetric septal hypertrophy with diffuse thickening of the inter-ventricular septum with normal thickness of the posterior left ventricular wall. Upon closer interrogation, a masquerading sessile cardiac mass was identified adherent to the left ventricular side of the inter-ventricular septum which appeared to contract with each cardiac cycle, mimicking hypertrophic cardiomyopathy.

Hemodynamic management of a patient with a huge right atrium myxoma during thoracic vertebral surgery: A case report.

RATIONALE: Myxoma is the most common primary benign cardiac tumor, which could lead to some fatal complications because of its strategic position. PATIENT CONCERNS: The patient was admitted to our hospital due to sudden onset of palpitation, chest tightness, mild fever, night sweats, accompanied with bilateral lower extremities adynamia, and paralysis for 5 days, but no obvious syncope and edema. DIAGNOSES: Transthoracic echocardiography showed a giant mobile myxoma (72 × 58 mm) in the right atrium (RA). Magnetic resonance imaging revealed an erosive space-occupying lesion located between the first and third thoracic vertebrae. INTERVENTIONS: Thoracic vertebral lesions were resected immediately to rescue the incomplete paraplegia. After the patient was placed in the prone position, significant hemodynamics changes were observed due to the displacement of the huge RA myxoma. OUTCOMES: Stable hemodynamics was maintained during the operation through control of fluid infusion combined with vasoactive drugs. LESSONS: Change in body position may lead to obstruction of intracardiac blood flow in patients with giant myxoma. This clinical manifestation is rarely reported.

Outcomes of Patients with Newly Diagnosed Cardiac Myxoma: A Retrospective Multicentric Study.

The patient database at the First Department of Internal Medicine in Martin, the Central Slovak Institute for Cardiac and Vascular Diseases in Banska Bystrica, and the National Slovak Institute of Cardiovascular Diseases in Bratislava was searched to identify patients with benign tumors of the heart seen during the 5-year period between 2011 and 2016. Forty-one patients with primary cardiac myxomas were identified and their medical records were reviewed for details pertaining to presenting symptoms, staging modalities, treatment approaches, and outcomes. Most of the studied patients were diagnosed with echocardiography (n = 35, 85%). The occurrence of the tumor was higher in the female population (n = 25, 61%). The most common presenting symptoms were dyspnoea (n = 17, 42%), chest pain (n = 3, 7%), or pain and paraesthesia of the limbs (n = 2, 5%). Acute embolic event due to embolization of tumor fragments resulted in cerebral stroke (n = 5, 12%). All patients were treated by resection. Only one comorbid patient died due to multiple-organ dysfunction syndrome two weeks after the resection. The most common postoperative complication was bleeding (n = 2, 5%) and infection (n = 2, 5%). The early diagnosis and appropriate treatment are often curative, with very low risk of recurrence. Postoperative survival is high.

Intracardiac Heterotopic Liver Presenting as a Right Atrial Myxoma: A Case Report.

Intracardiac heterotopic liver is a very rare entity. The most unique aspect of this entity is the increased carcinogenic potential of the tissue. This condition must be considered when assessing an intracardiac mass along with more common differential diagnoses such as neoplasms, thrombi, and vegetations. In this report, we present a case of a patient who presented to cardiac surgery for elective excision of a right atrial mass that was determined to be an accessory liver lobe. We discuss the diagnostic challenges, clinical management, and surgical and anesthetic implications of this rare finding.

Two-dimensional echocardiographic estimates of left atrial function in healthy dogs and dogs with myxomatous mitral valve disease.

OBJECTIVES: To provide reference intervals for 2-dimensional linear and area-based estimates of left atrial (LA) function in healthy dogs and to evaluate the ability of estimates of LA function to differentiate dogs with subclinical myxomatous mitral valve disease (MMVD) and similarly affected dogs with congestive heart failure (CHF). ANIMALS: Fifty-two healthy adult dogs, 88 dogs with MMVD of varying severity. METHODS: Linear and area measurements from 2-dimensional echocardiographs in both right parasternal long and short axis views optimized for the left atrium were used to derive estimates of LA active emptying fraction, passive emptying fraction, expansion index, and total fractional emptying. Differences for each estimate were compared between healthy and MMVD dogs (based on ACVIM classification), and between MMVD dogs with subclinical disease and CHF that had similar LA dimensions. Diagnostic utility at identifying CHF was examined for dogs with subclinical MMVD and CHF. Relationships with bodyweight were assessed. RESULTS: All estimates of LA function decreased with increasing ACVIM stage of mitral valve disease (p<0.05) and showed negative relationships with increasing LA size (all r2 values < 0.2), except for LA passive emptying fraction, which did not differ or correlate with LA size (p=0.4). However, no index of LA function identified CHF better than measurements of LA size. Total LA fractional emptying and expansion index showed modest negative correlations with bodyweight. CONCLUSIONS: Estimates of LA function worsen with worsening MMVD but fail to discriminate dogs with CHF from those with subclinical MMVD any better than simple estimates of LA size.

Clinicopathological features and differential diagnosis of aggressive angiomyxoma of the female pelvis: 5 case reports and literature review.

Aggressive angiomyxoma (AAM) is a rare mesenchymal tumor that usually occurs in the pelvis and perineum of young females. AAM can simulate Bartholin's gland cyst, abscess, lipoma, simple labial cyst, or other pelvic soft tissue tumors. Here we present five cases of AAM with mean age of 42. The patients mainly presented slow-growing mass in the abdomen and perineum (3 cases in the pelvis, 1 in the vulva, and 1 in the buttock). Color Doppler flow imaging revealed blood flow for the 3 pelvic lesions. Enhanced computed tomography and magnetic resonance imaging of the other 2 cases showed the typical "swirled" or "layered" structure characteristic. Through the pathological examination, its positivity to estrogen and progesterone receptors can justify enlargement and recurrence, confirming the tumor is AAM. All 5 patients underwent local tumor resection. Two patients recurred 8 and 15 months after surgery, respectively. The longest follow-up was 42 months. Although few cases are reported, early recognition demands high index of suspicion for both gynaecologists and pathologists. Wide surgical excision with tumor free margins is the basis of curative treatment. Adjuvant therapy may be necessary for residual or recurrent tumors. Long-term follow-up is recommended.

Congenital valvular defects associated with deleterious mutations in the PLD1 gene.

BACKGROUND: The underlying molecular aetiology of congenital heart defects is largely unknown. The aim of this study was to explore the genetic basis of non-syndromic severe congenital valve malformations in two unrelated families. METHODS: Whole-exome analysis was used to identify the mutations in five patients who suffered from severe valvular malformations involving the pulmonic, tricuspid and mitral valves. The significance of the findings was assessed by studying sporulation of yeast carrying a homologous Phospholipase D (PLD1) mutation, in situ hybridisation in chick embryo and echocardiography and histological examination of hearts of PLD1 knockout mice. RESULTS: Three mutations, p.His442Pro, p.Thr495fs32* and c.2882+2T>C, were identified in the PLD1 gene. The mutations affected highly conserved sites in the PLD1 protein and the p.His442Pro mutation produced a strong loss of function phenotype in yeast homologous mutant strain. Here we show that in chick embryos PLD1 expression is confined to the forming heart (E2-E8) and homogeneously expressed all over the heart during days E2-E3. Thereafter its expression decreases, remaining only adjacent to the atrioventricular valves and the right ventricular outflow tract. This pattern of expression follows the known dynamic patterning of apoptosis in the developing heart, consistent with the known role of PLD1 in the promotion of apoptosis. In hearts of PLD1 knockout mice, we detected marked tricuspid regurgitation, right atrial enlargement, and increased flow velocity, narrowing and thickened leaflets of the pulmonic valve. CONCLUSIONS: The findings support a role for PLD1 in normal heart valvulogenesis.

Clinical manifestation and surgical treatment analysis of five cases with biatrial myxoma.

BACKGROUND: Cardiac myxomas (CMs) are a major primary heart tumor which often causes unexpected symptoms or sudden death. Among CMs, biatrial myxomas are even rare. This study was designed to investigate the clinical characteristics and surgical treatment of 5 cases with biatrial myxoma, to summarize the treatment experience and the effect of short-to-mid-term prognosis. METHODS: Five patients with biatrial myxoma were included in this study. The patients' relative literature, chest X-ray, body-surface electrocardiogram, and ultrasonic cardiogram (UCG) were used to investigate the clinical characteristics. The experience of surgical treatment and perioperative treatment were analyzed. RESULTS: Among the 5 cases, patients had presented discomfort of precordial area and cardiac insufficiency symptoms such as dyspnea and chest discomfort. There were characteristic changes on echocardiography (ECG). All patients accepted resection of both tumor and its basement tissue. Their symptoms were all improved after surgery, no deaths occurred. CONCLUSION: In conjunction with clinical features, diagnostic clue and echocardiography, the detectable rate of biatrial myxoma could be significantly improved. Early diagnosis showed good effect on prognosis.

The prevention of circulatory collapse in left atrial myxoma or left atrail thrombus patients.

Some patients with myxoma or thrombus may develop to severe hypotension or sudden death. In this article, we hypothesize a clinical scenario that when the myxoma or thrombus blocks in the mitral valve and causes significant hypotension during anesthesia or surgery. Increasing cardiac preload will be an effective preventive method to increasing the mitral valve annulus and decreasing the severity of stenosis, as a result it will prevent circulatory collapse. Our hypothesis will decrease the possibility of lethal mitral valve stenosis induced by left atrial mass blocking the mitral valve area. In addition, we should also maintain a relative slow heart rate and a relative high systemic vascular resistance.

Pediatric cardiac tumors: a 45-year, single-institution review.

BACKGROUND: Cardiac tumors in children are rare. Of the cases reported in the literature, nearly all are benign and managed conservatively. METHODS: This is a retrospective, observational study of pediatric patients <18 years who presented for surgical evaluation of a cardiac tumor, between 1969 and 2014 at a tertiary care children's hospital. Presentation, pathology, management, and outcomes were evaluated. RESULTS: Over the last 45 years, 64 patients were evaluated for surgical resection of a cardiac tumor. Rhabdomyoma was the most common neoplasm (58%), and 17% of the tumors had malignant pathologies. While 42% of benign cardiac neoplasms required surgical intervention for significant hemodynamic concerns, 73% of malignant neoplasms underwent radical excision, if possible, followed by adjuvant chemotherapy. Despite a 37% mortality in patients with malignant pathology, an aggressive surgical approach can yield long-term survival in some patients. There were no deaths among patients with benign tumors and 17% had postoperative complications mostly related to mitral regurgitation. CONCLUSION: Cardiac tumors in children are rare but can be managed aggressively with good outcomes. Benign tumors have an excellent survival with most complications related to tumor location. Malignant tumors have a high mortality rate, but surgery and adjuvant chemotherapy allow for prolonged survival in selected patients.