Clinical outcomes of fetuses with cardiac rhabdomyoma: A case series from a tertiary center.

Aims: The study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center.

Methods: Data of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow-up were analyzed retrospectively.

Results: Nine cases were included in the study.

Solitary atrial Rhabdomyoma in an infant with tuberous sclerosis: a case report and review of the literature.

Background: Despite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which commonly affects the ventricles. Fetal CRs rarely occur in the right atrium. Thus, the presentation of atrial fibrillation and premature atrial contractions (PAC) due to a solitary cardiac rhabdomyoma is an extremely rare scenario.

Atypical Presentation of a Right Atrial Myxoma.

Primary cardiac tumors are exceptionally rare and predominantly located in the left atrium with occasional involvement on the right side of the heart. We present the case of a 52-year-old man who presented with chest pain, leading to suspicion of acute coronary syndrome. However, further investigation revealed a right atrial tumor measuring 6.

The Early Presentation of a Classic Case of Tuberous Sclerosis: A Case Report.

Tuberous sclerosis (TS) is a potentially severe medical disorder that poses a life-threatening risk and can lead to drastic lifestyle changes. In infants and young children, the typical diagnostic criteria for this condition encompass cutaneous manifestations and seizures, and the development of cellular growths termed hamartomas, astrocytomas, myolipomas, and even carcinomas observed within the cardiac, cerebral, renal, and retinal tissues. The usual age of presentation varies widely, which affects the prognosis.

Treatment of tuberous sclerosis complex manifestations in children with mTOR inhibitors.

Purpose: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems. Mutations in the TSC1 and TSC2 genes result in the constitutive hyperactivation of the mammalian target of rapamycin (mTOR) pathway, contributing to the growth of benign tumors or hamartomas in various organs. Due to the implication of mTOR pathway dysregulation in the disease pathology, increasing evidence supports the use of mTOR inhibitors for treating multiple manifestations of TSC.

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.

Background: Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The aim of the present study was to determine the developmental and cognitive long-term outcomes of pediatric TSC patients.

Sporadic right ventricle rhabdomyoma in an adult without tuberous sclerosis.

Cardiac rhabdomyoma is a rare benign tumor of the pediatric age group which usually regresses by the age of 2 years. Cardiac rhabdomyoma in adults is still a rarer disease. It is usually associated with tuberous sclerosis.

Cardiac self-limiting rhabdomyomas in a neonatal patient with tuberous sclerosis complex: a case report with negative genetic testing.

Background: Tuberous Sclerosis Complex (TSC) is a hereditary condition that leads to the development of non-malignant neoplasms in various organs, including cardiac rhabdomyomas, which can cause significant complications.

Case Presentation: This report describes the case of a 15-day-old male neonate who was hospitalized due to intracardiac masses and brain lesions, despite the absence of TSC gene mutations. The patient's mother exhibited facial angiofibromas, a common feature of TSC.

Prenatal diagnosis of fetal pericardial rhabdomyoma resulting in fetal death.

We present a case of huge pericardial rhabdomyoma that progressed into the pericardial cavity, resulting in fetal death. Fetal ultrasound and neonatal echocardiography provide excellent diagnostic methods for fetal rhabdomyoma. When established, antenatal diagnosis enables a focused, specialized, and multidisciplinary approach with individual case management, potentially reducing perinatal morbidity and mortality.

Perinatal outcome in prenatally diagnosed cardiac rhabdomyoma case series.

Objective: This study aims to determine the characteristics and outcome of prenatally diagnosed cardiac rhabdomyomas.

Study Design: This retrospective descriptive study includes cases referred to our university hospital. We studied sonographic characteristics of rhabdomyoma along with the neonatal outcome.

[Asymptomatic course of rhabdomyoma of the heart].

The article describes a clinical case of cardiac rhabdomyoma first diagnosed in an 18-year-old girl. At the age of 12 months, the patient first developed generalized, prolonged convulsive seizure with the eyeballs rolling upward, tonic arm tension, and profuse salivation. From 1.

Cardiac and Pericardial Neoplasms in Children: Radiologic-Pathologic Correlation.

Primary cardiac and pericardial neoplasms are rare in the pediatric population and can include both benign and malignant lesions. Rhabdomyomas, teratomas, fibromas, and hemangiomas are the most common benign tumors. The most common primary cardiac malignancies are soft-tissue sarcomas, including undifferentiated sarcomas, rhabdomyosarcomas, and fibrosarcomas.

Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus.

Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas. Tuberous sclerosis complex is caused by the disinhibition of the protein mTOR (mammalian target of rapamycin). In the past, various therapeutic approaches, even if only symptomatic, have been attempted to improve the clinical effects of this disease.

Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.

Objective: We describe the clinical and genetic characteristics of fetuses and infants diagnosed with tuberous sclerosis complex (TSC) in our centre, prenatally or neonatally, for a better understanding of the benefits of early screening.

Methods: In this retrospective study, we analysed the data on one fetus and nine infants with a definitive TSC diagnosis by genetic criteria (five patients carrying variants and 5 patients carrying variants). We explored the differences between phenotypes of patients carrying and pathogenic variants.

Early Diagnosis of Tuberous Sclerosis Complex: Prenatal Diagnosis.

Background And Purpose: Strong emphasis has been placed recently on early (4 postnatal months) detection of tuberous sclerosis complex and the introduction of antiepileptic treatment before seizure onset. This objective can be achieved prenatally: Cardiac rhabdomyomas and the major diagnostic tuberous sclerosis complex sign are detected during fetal ultrasound, and prenatal MR imaging allows detection of cerebral major manifestations: cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas.

Materials And Methods: We retrospectively reviewed 50 fetuses with ultrasound-detected cardiac tumors at 19-36 gestational weeks (median, 31 weeks).

Surgical treatment of primary cardiac tumors in children.

Objective: Summarizing the treatment experience of primary cardiac tumors in children.

Methods: The date of 24 children with primary cardiac tumors who underwent surgery in our department from July 2003 to September 2022 was collected and analyzed treatment efficacy.

Results: All patients completed the surgery successfully, including 21 cases of complete tumor resection, 2 cases of partial tumor resection, and 1 case of tumor biopsy.

Cardiac rhabdomyomas: clinical progression, efficacy and safety of everolimus treatment.

Background: Primary cardiac tumors are extremely rare. Cardiac rhabdomyoma is the most common primary cardiac tumor. 50-80% of solitary rhabdomyomas and all multiple rhabdomyomas are associated with tuberous sclerosis complex.

Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment.

Aim: To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time.

Methods: In this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and centres for habilitation from 2000 to 2020.

Results: Cardiac rhabdomyoma was detected prenatally/neonatally in 69.

Surgical Treatment of Pediatric Refractory Ventricular Tachycardia Originating From a Left Ventricular Rhabdomyoma.

Cardiac tumors are very rare in children, and echocardiography is very important in their detection. The clinical presentation can vary greatly depending on arrhythmia or obstruction. One of the most important factors determining the surgical approach is the clinical process.