1,059 results match your criteria Cardiac Rhabdomyoma


Cardiac rhabdomyoma with hydrops fetalis: Prenatal management by abdominal drainage.

Taiwan J Obstet Gynecol 2021 May;60(3):551-553

Department of Obstetrics and Gynecology, CHU Nantes, quai 38 bd Jean Monnet, 44093, Nantes Cedex, France. Electronic address:

Objective: We described a case of fetal cardiac rhabdomyoma complicated by hydrops. And we discussed our approach during pregnancy.

Case Report: A 23-year-old woman primigravida was referred at 29 weeks of gestation (WG) to prenatal unit for a large hyperechogenic intracardiac mass associated with fetal hydrops. Read More

View Article and Full-Text PDF

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

AJNR Am J Neuroradiol 2021 May 6. Epub 2021 May 6.

Department of Pediatric Radiology and Neuroradiology (A.R.), Vittore Buzzi Children's Hospital, Milan, Italy.

Background And Purpose: Ganglionic eminence abnormalities on fetal MR imaging are associated with cerebral malformations. Their presumed genetic basis and associated postnatal outcomes remain largely unknown. We aimed to elucidate these through a multicenter study. Read More

View Article and Full-Text PDF

Cardiac Rhabdomyoma: A Surrogate Diagnosis of Tuberous Sclerosis Complex in a Newborn Baby: Case Report from Tikur Anbessa University Hospital.

Ethiop J Health Sci 2020 Jul;30(4):639-642

Addis Ababa university , College of Health sciences, Pediatric neurology unit. Cellphone- 0911406533, email: Addis Ababa Ethiopia.

Background: Neonatal tuberous sclerosis complex is an autosomal dominant inherited disease characterized by high rate of neurological, cardiac and skin manifestations.

Case Presentation: We reported a 4 days old female neonate with respiratory distress, tachypnea, tachycardia and hypomelanotic macular lesions. Her chest X-ray and echocardiographic studies revealed cardiomegaly and multiple echogenic masses in the left and right ventricles, suggestive of cardiac rhabdomyoma. Read More

View Article and Full-Text PDF

Primary cardiac tumours: how well can prenatal diagnosis "predict" postnatal outcome?

Bratisl Lek Listy 2021 ;122(5):315-319

Objective: Primary foetal cardiac tumours are rare congenital malformations. They can cause a flow obstruction, arrhythmias and can lead to cardiac failure, hydrops or death. Postnatal management is based on patient´s clinical and hemodynamic impairment. Read More

View Article and Full-Text PDF

Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review.

Pediatr Rep 2021 Mar 1;13(1):104-112. Epub 2021 Mar 1.

Pediatric Cardiology Unit, "Vittore Buzzi" Children's Hospital, 20154 Milano, Italy.

: Cardiac rhabdomyomas (CRs) are the most common cardiac tumors in newborns. Approximately 80-90% of cases are associated with tuberous sclerosis complex (TSC). In selective cases, Everolimus has resulted in a remarkable tumoral regression effect in children with TS. Read More

View Article and Full-Text PDF

The clinical and paraclinical manifestations of tuberous sclerosis complex in children.

Acta Neurol Belg 2021 Mar 18. Epub 2021 Mar 18.

Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

Tuberous sclerosis complex (TSC) is an autosomal-dominant, multi-system, neurocutaneous disorder characterized by hamartomas in multiple organs. This study aimed to evaluate the clinical and paraclinical manifestations of children with TSC. The clinical and paraclinical characteristics of 79 children with TSC were evaluated and the possible correlations between the factors were calculated. Read More

View Article and Full-Text PDF

Evaluation of cardiac arrhythmias by electrocardiographic markers in pediatric patients who have tuberous sclerosis without cardiac rhabdomyoma.

Arch Pediatr 2021 Apr 11;28(3):204-208. Epub 2021 Mar 11.

Department of pediatric cardiology, Istanbul Medipol University, Istanbul, Turkey.

Background: Tuberous sclerosis (TS) is an autosomal dominant and hereditary disorder. Cardiac rhabdomyoma and arrhythmias are the most deleterious risk factors linked to TS. Although arrhythmias in pediatric patients with TS who have cardiac rhabdomyoma have been frequently reported, arrhythmia in patients who have TS without rhabdomyoma is rarely reported in the literature. Read More

View Article and Full-Text PDF

Tuberous Sclerosis Complex: Early Screening and Infant Outcome in NICU.

J Trop Pediatr 2021 Jan;67(1)

Children's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.

Objective: We describe the clinical and genetic features, drug use and neuropsychiatric disorders of infants diagnosed with tuberous sclerosis complex (TSC) within 3 months of age at a neonatal intensive care unit (NICU) to better understand the different outcomes from early screening.

Methods: In this retrospective study, we consisted of 42 infants with a definitive TSC diagnosis by genetic criteria (TSC1 = 8, TSC2 = 34). The different phenotypes and outcomes between patients with TSC1 and TSC2 mutations were analyzed. Read More

View Article and Full-Text PDF
January 2021

Multiple heart beats: A unique presentation of cardiac rhabdomyoma.

Cardiol J 2021 ;28(1):190

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, 755-8505 Ube, Japan.

View Article and Full-Text PDF
January 2021

Everolimus treatment in a 3-month-old infant with tuberous sclerosis complex cardiac rhabdomyoma, severe left ventricular outflow tract obstruction, and hearing loss.

Cardiol Young 2021 Mar 4:1-4. Epub 2021 Mar 4.

Department of Pediatric Hematology, Van Yuzuncu Yil Universitiy, Van, Turkey.

Tuberous sclerosis complex is a rare multisystem genetic disorder characterised by the growth of numerous tumour-like malformations in many parts of the body including skin, kidneys, brain, lung, eyes, liver, and heart. Mutations in the TSC1 or TSC2 genes have been reported to cause disruption in the TSC1-TSC2 intracellular protein complex, causing over-activation of the mammalian target of rapamycin protein complex. In this study, we present a 3-month-old male infant diagnosed with tuberous sclerosis, bilateral neurosensorial hearing loss, Wolff-Parkinson-White syndrome on electrocardiography, multiple cardiac rhabdomyomas with severe stenosis in the left ventricular outflow tract, who responded well to the Everolimus therapy. Read More

View Article and Full-Text PDF

Sirolimus Can Increase the Disappearance Rate of Cardiac Rhabdomyomas Associated with Tuberous Sclerosis: A Prospective Cohort and Self-Controlled Case Series Study.

J Pediatr 2021 Feb 23. Epub 2021 Feb 23.

Department of Pediatrics, First Medical Center, Chinese PLA General Hospital, Beijing, China; Center of Epilepsy, Beijing Institute for Brain Disorders, Beijing, China. Electronic address:

Objectives: To investigate the efficacy and safety of sirolimus in the treatment of cardiac rhabdomyomas associated with tuberous sclerosis complex and the specific benefits in different subgroups.

Study Design: The study was a prospective cohort and self-controlled case series study. Based on the prevalence of cardiac rhabdomyoma at different ages, we estimated the natural tumor disappearance rate. Read More

View Article and Full-Text PDF
February 2021

A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex.

J Genet Genomics 2021 Jan 13. Epub 2021 Jan 13.

Jiangsu Key Laboratory of Xenotransplantation, Nanjing Medical University, Nanjing, 211166, China; Key Laboratory of Targeted Intervention of Cardiovascular Disease, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, Nanjing Medical University, Nanjing, 211166, China; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, 211166, China; Shenzhen Xenotransplantation Medical Engineering Research and Development Center, Institute of Translational Medicine, Shenzhen Second People's Hospital, First Affiliated Hospital of Shenzhen University, Shenzhen, 518035, China. Electronic address:

Tuberous sclerosis complex (TSC) is a dominant genetic neurocutaneous syndrome characterized by multiple organ hamartomas. Although rodent models bearing a germline mutation in either TSC1 or TSC2 genes have been generated, they do not develop pathogenic lesions matching those seen in patients with TSC because of the significant differences between mice and humans, highlighting the need for an improved large animal model of TSC. Here, we successfully generated monoallelic TSC1-modified Bama miniature pigs using the CRISPR/Cas9 system along with somatic cell nuclear transfer (SCNT) technology. Read More

View Article and Full-Text PDF
January 2021

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis.

Cardiol Young 2021 Feb 19:1-9. Epub 2021 Feb 19.

Aswan Heart Center, Aswan, Egypt.

Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Read More

View Article and Full-Text PDF
February 2021

Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas.

Am J Med Genet A 2021 05 16;185(5):1525-1531. Epub 2021 Feb 16.

Fundación Cardiovascular de Colombia, Floridablanca, Colombia.

Intracardiac rhabdomyoma is the most common primary cardiac tumor in children. Most cases are associated with tuberous sclerosis complex (TSC). Most of them are asymptomatic in the neonate and do not require treatment. Read More

View Article and Full-Text PDF

Epizootic neoplasia in a managed population of Atlantic bumper fish, Chloroscombrus chrysurus (Osteichthyes: Carangidae), at a public aquarium.

J Fish Dis 2021 Apr 21;44(4):415-427. Epub 2020 Dec 21.

Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, GA, USA.

Advances in fish medicine and husbandry have increased the average lifespans of specimens in managed aquarium populations. As a result, an increased incidence and variety of neoplasia is expected. This work characterizes diverse neoplasms arising within a managed population of Atlantic bumper fish acquired via repeated collections from the Charleston Harbor region. Read More

View Article and Full-Text PDF

Fetal cardiac tumors: prenatal diagnosis, management and prognosis in 18 cases

J Turk Ger Gynecol Assoc 2020 12;21(4):255-259

Clinic of Perinatology, University of Health Sciences Turkey, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey

Objective: To evaluate the long-term follow-up of patients with fetal cardiac tumors (FCTs), and to review the literature regarding advances in diagnosis and management of FCTs in the last decade.

Material And Methods: In this retrospective study, pregnant women referred to a single center maternal-fetal medicine unit between 2013 and 2018 for advanced ultrasonography, were reviewed. Pediatric cardiology counseling was offered to women whose fetuses had FCTs. Read More

View Article and Full-Text PDF
December 2020

Mitral Ebstein's Anomaly Modified with a Scarred Rhabdomyoma in Tuberous Sclerosis: An Extremely Rare Cause of Mitral Insufficiency.

Intern Med 2021 Apr 23;60(8):1225-1229. Epub 2020 Nov 23.

Division of Cardiovascular Medicine, Department of Internal Medicine, Japan.

We present an extremely rare case of mitral Ebstein's anomaly that resulted in severe mitral regurgitation (MR). A 41-year-old woman with a history of tuberous sclerosis underwent surgery. Preoperatively, it was assumed that MR had occurred due to leaflet tethering related to left ventricular posterior wall motion asynergy due to a scarred rhabdomyoma. Read More

View Article and Full-Text PDF

Rapid response of a cardiac rhabdomyoma causing severe right ventricular outflow obstruction to Sirolimus in an infant with negative genetics for Tuberous sclerosis.

Cardiol Young 2021 Feb 5;31(2):312-314. Epub 2020 Nov 5.

Paediatric Cardiology and Congenital Heart Disease in Adults, The Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa3109601, Israel.

Mammalian target of rapamycin inhibitors was found recently to be an effective treatment for manifestations of Tuberous sclerosis complex, including cardiac rhabdomyomas. Most cases with Cardiac rhabdomyoma treated with mammalian target of rapamycin inhibitors to date were diagnosed with Tuberous sclerosis. We report a case of cardiac rhabdomyoma and severe right ventricular outflow obstruction in a baby with negative genetics for Tuberous sclerosis that responded rapidly to Sirolimus. Read More

View Article and Full-Text PDF
February 2021

Rhabdomyoma association with atrioventricular septal defect in an infant: a rare coincidence.

Indian J Thorac Cardiovasc Surg 2020 Nov 21;36(6):649-652. Epub 2020 Jul 21.

Department of Pediatric Heart Surgery, Izmir University Of Health Sciences Tepecik Training And Research Hospital, Sanayi Caddesi No:7 Bornova, İzmir, Turkey.

Cardiac rhabdomyoma is the most common primary heart tumor in childhood. This tumor, which is frequently associated with tuberous sclerosis complex, mostly disappears in childhood with spontaneous regression. Surgical resection is required in case of outflow obstruction and arrhythmia and when protruding to disrupt the filling of the heart cavities. Read More

View Article and Full-Text PDF
November 2020

Cardiac Magnetic Resonance Evaluation of Cardiac Masses in Patients with Suspicion of Cardiac Masses on Echo or Computed Tomography.

J Clin Imaging Sci 2020 14;10:57. Epub 2020 Sep 14.

Department of Medicine (Cardiology), Aga Khan University Hospital, Karachi, Sindh, Pakistan.

Objectives: In recent years, cardiac magnetic resonance (CMR) imaging has emerged as an important tool in the identification and characterization of cardiac masses. No imaging data on cardiac masses are available from Pakistan. We aimed to review the clinical presentation, CMR findings, and outcome of patients referred for CMR due to suspicion of cardiac masses on echocardiogram or computed tomography (CT). Read More

View Article and Full-Text PDF
September 2020

Outcomes of antenatally diagnosed fetal cardiac tumors: a 10-year experience at a single tertiary referral center.

J Matern Fetal Neonatal Med 2020 Sep 20:1-6. Epub 2020 Sep 20.

Department of Obstetrics and Gynecology, Ege University School of Medicine, Izmir, Turkey.

Objective: The purpose of this study was to analyze the clinical and perinatal outcomes along with ultrasonographic characteristics of fetuses with a cardiac tumor.

Methods: The data were obtained retrospectively between January 2010 and December 2019 in a tertiary referral center. The Cardiovascular Profile Score (CVPS) was used for the diagnosis of heart failure. Read More

View Article and Full-Text PDF
September 2020

A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex.

BMC Med Genet 2020 09 11;21(1):180. Epub 2020 Sep 11.

Electrocardiogram Room, The Affiliated Yantai Yuhuangding Hospital of Qingdao University, Yantai, Shandong, 264000, P.R. China.

Background: Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused by pathogenic variants in the TSC1 or TSC2 gene.

Case Presentation: We reported a sporadic case of a 32-year-old Han Chinese male diagnosed with TSC, whose spouse had a history of two spontaneous miscarriages and an induced abortion of a 30-week fetus identified with cardiac rhabdomyoma by ultrasound. Read More

View Article and Full-Text PDF
September 2020

TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.

Eur J Med Genet 2020 Nov 2;63(11):104060. Epub 2020 Sep 2.

Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. Electronic address:

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by non-cancerous tumors in multiple organs including the brain, kidney, lung, heart, and skin. We encountered a Japanese family consisting of two siblings (a four-year-old boy and a one-year-old girl) with multiple cardiac rhabdomyomas conveying a high risk of TSC and apparently unaffected sibling (a two-year-old girl) and parents. Whole exome sequencing and application of Integrative Genomic Viewer revealed an identical intragenic TSC1 deletion with the breakpoints on intron 15 and exon 19 in the affected siblings, but not in the apparently unaffected sibling and parents. Read More

View Article and Full-Text PDF
November 2020

Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report.

Medicine (Baltimore) 2020 Aug;99(35):e21949

Department of Obstetrics and Gynecology, West China Second University Hospital.

Rationale: Rhabdomyoma is the most common type of fetal heart tumors and 50% to 60% of cardiac rhabdomyomas are associated with tuberous sclerosis complex (TSC). TSC is characterized by hamartomas in multiple organ systems including the brain, heart, skin, lungs, and kidneys, resulting in complications such as learning difficulties, epilepsy, behavioral problems, and renal failure. The etiological diagnosis of Rhabdomyoma is very important. Read More

View Article and Full-Text PDF

A rhabdomyoma in the right ventricle presenting as hemodynamics of hypoplastic right heart.

Cardiol Young 2020 Oct 5;30(10):1527-1529. Epub 2020 Aug 5.

Division of Pediatric Cardiology, Department of Pediatrics, Children's Hospital of Michigan, Detroit, MI, USA.

Rhabdomyomas are the most common paediatric cardiac tumours. The natural history of these tumours is mostly benign, and the tumour usually regresses spontaneously. Although surgical resection of these tumours is one of the considerations in patients with ventricular outflow obstruction, a palliation with Blalock-Taussig shunt is an alternative approach with the hope of regression of the tumour over time. Read More

View Article and Full-Text PDF
October 2020

Echocardiography and Newer Imaging Techniques in Diagnosis and Long-Term Follow-Up of Primary Heart Tumors in Children.

Int J Environ Res Public Health 2020 07 29;17(15). Epub 2020 Jul 29.

Department of Pediatric Cardiology, Faculty of Medical Sciences, Medical University of Silesia in Katowice, 40-752 Katowice, Poland.

Background: Primary heart tumors (PHTs) in the pediatric population are very rare and do not manifest any characteristic symptoms.

Methods: A retrospective analysis of 61 cases was undertaken. Data from three centers for the years 2003-2018 were gathered. Read More

View Article and Full-Text PDF

Molecular diagnosis of an infant with / contiguous gene syndrome.

Hum Genome Var 2020 16;7:21. Epub 2020 Jul 16.

Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Tokushima Japan.

A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with / contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19-42 of and exons 2-46 of . Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease. Read More

View Article and Full-Text PDF

Surgical treatment of left ventricular fibroma in adult: case report and literature review.

Cardiol Young 2020 Sep 17;30(9):1328-1331. Epub 2020 Jul 17.

Department of Cardiac Surgery, Fuwai Hospital, National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing100037, China.

Cardiac fibroma is a rare benign primary tumour of the heart. In the paediatric population, it has been reported as the second most common benign cardiac tumour following rhabdomyoma. However, the prevalence of cardiac fibroma is rarely reported in the adult population. Read More

View Article and Full-Text PDF
September 2020

A case of surgically resected cardiac rhabdomyoma with progressive left ventricular outflow tract obstruction.

Cardiovasc Pathol 2020 Nov - Dec;49:107226. Epub 2020 May 12.

Department of Pathology, Universiti Kebangsaan Malaysia Medical Centre, 56000 Kuala Lumpur, Malaysia. Electronic address:

Cardiac rhabdomyoma is the most prevalent cardiac tumors in the pediatric population, in close association with tuberous sclerosis complex. It is usually detected antenatally or postnatally by echocardiography. Clinical presentations depend greatly on the size and position of the tumor mass. Read More

View Article and Full-Text PDF
October 2020