1,100 results match your criteria Cardiac Rhabdomyoma

Management of neonatal cardiac rhabdomyoma obstructing the aortic valve.

J Card Surg 2022 Jun 21. Epub 2022 Jun 21.

Department of Cardiovascular Surgery, Osaka Women's and Children's Hospital, Osaka, Japan.

Rhabdomyomas associated with tuberous sclerosis are common cardiac tumors in children, and no surgical intervention is needed in most cases. However, when the tumor causes left ventricular outlet tract obstruction (LVOTO), immediate surgical intervention is indicated. Here, we report a newborn who was diagnosed antenatally with multiple cardiac rhabdomyomas, one of which blocked the aortic valve during systole. Read More

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Rhabdomyoma in the base of the tongue : A case report.

Int J Surg Case Rep 2022 Jun 25;95:107239. Epub 2022 May 25.

Faculty of Medicine of Damscus University, Damascus, Syria; Al-Mouwasat University Hospital, Damascus, Syria.

Introduction: Rhabdomyomas are benign and rare mesenchymal tumors. They are classified into cardiac and extracardiac. However, the majority of adult subtype, which are extracardiac, tend to occur in the head and neck region. Read More

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Rapid regression everolimus therapy in a neonate with cardiac rhabdomyoma.

Pediatr Int 2022 01;64(1):e15188

Department of Pediatric Cardiology, Koç University Faculty of Medicine, İstanbul, Turkey.

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January 2022

Congenital cardiac masses: a case report.

J Med Case Rep 2022 Apr 22;16(1):166. Epub 2022 Apr 22.

Pediatrics, 1 Brookdale University Hospital and Medical center, 1 Brookdale Plaza, Brooklyn, NY, 11212, USA.

Background: Cardiac tumors in infants and children are rare. The most common cardiac tumor is rhabdomyoma, which may be associated with tuberous sclerosis. However, not all cardiac rhabdomyomas are pathognomonic for tuberous sclerosis, and not all congenital cardiac tumors are rhabdomyomas. Read More

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The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.

BMC Med 2022 04 20;20(1):123. Epub 2022 Apr 20.

Neuroscience and Mental Health Research Institute, Hadyn Ellis Building, Cardiff, CF24 4HQ, UK.

Background: Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and neuropsychiatric complications. Intracardiac tumour (rhabdomyoma), neurodevelopmental disorders (NDDs) and kidney disorders (KD) are common manifestations of TSC and have been linked with TSC1 and TSC2 loss-of-function mutations independently, but the dynamic relationship between these organ manifestations remains unexplored. Therefore, this study aims to characterise the nature of the relationship specifically between these three organs' manifestations in TSC1 and TSC2 mutation patients. Read More

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Prenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review.

AJNR Am J Neuroradiol 2022 04 24;43(4):633-638. Epub 2022 Mar 24.

Monash Health Paediatric Neurology Unit and Department of Paediatrics (M.C.F.), Monash University, School of Clinical Sciences, Clayton, Victoria, Australia.

Background And Purpose: Most patients with tuberous sclerosis complex (TSC) do not receive prenatal diagnosis. Our aim was to describe MR imaging findings to determine the following: 1. Whether normal fetal MR imaging is more common in fetuses imaged at ≤24 weeks' gestation compared with >24 weeks 2. Read More

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Neonatal rhabdomyoma with cardiac dysfunction: favourable response to sirolimus.

BMJ Case Rep 2022 Mar 24;15(3). Epub 2022 Mar 24.

Paediatric Haematology/Oncology, KK Women's and Children's Hospital, Singapore.

Cardiac rhabdomyoma is the most common cardiac tumour in childhood, with a strong genetic association to tuberous sclerosis complex. Although most of the patients remain asymptomatic, a small proportion present with cardiac complications in the early neonatal period. Timely initiation of treatment can potentially reduce disease morbidity, and mammalian target of rapamycin (M-TOR) inhibitors play an effective role in promoting regression of these tumours. Read More

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Innocent until proven guilty? Longstanding atrial ectopy preceding cardiac rhabdomyoma diagnosis in tuberous sclerosis complex: a case report.

Eur Heart J Case Rep 2022 Feb 11;6(2):ytac068. Epub 2022 Feb 11.

Division of Cardiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, M5G 1X8, Ontario, Canada.

Background: Cardiac rhabdomyoma are the most common cardiac tumour in childhood and are associated with tuberous sclerosis complex (TSC) up to 96% of infant cases. They classically manifest in the foetal and neonatal period, undergo spontaneous regression in the first years of life and are associated with arrhythmia in part due to interruption of normal conduction pathways by the tumour.

Case Summary: We present a case of a 3-year-old boy with a long-standing history of atrial ectopy who was incidentally found to be in atrial flutter due to a new, rapidly growing cardiac rhabdomyoma impacting ventricular function. Read More

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February 2022

Surgical Treatment of Primary Cardiac Tumors in Children Systematic Review and Meta-analysis.

Pediatr Cardiol 2022 Feb 3;43(2):251-266. Epub 2022 Feb 3.

Bakoulev Scientific Center for Cardiovascular Surgery Moskva, Rublevskoe shosse 135, Moscow, Russia, 121552.

This systematic review sought to investigate the current evidence regarding surgical management of primary cardiac tumors in children. Twenty-four studies were deemed eligible, reporting on 713 pediatric patients. Cumulative 30-day mortality rate was 5. Read More

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February 2022

Rhabdomyoma and Hypoplastic Left Heart Syndrome - Case Report of a Very Rare Combination.

Cureus 2021 Nov 25;13(11):e19900. Epub 2021 Nov 25.

Pediatrics and Clinical Genetics, Ministry of National Guard - Health Affairs, Jeddah, SAU.

The most benign cardiac tumor in the pediatric population is cardiac rhabdomyoma. They are known to be associated with tuberous sclerosis complex. Here we report a case with multiple cardiac rhabdomyomas and another rare anomaly of the heart known as hypoplastic left heart syndrome. Read More

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November 2021

The importance of imaging in tuberous sclerosis complex (tsc) in children: Two cases.

Radiol Case Rep 2022 Feb 3;17(2):399-403. Epub 2021 Dec 3.

Clinic of Cardiology Faculty of Medicine University of Prishtina, Kosovo.

Tuberous sclerosis complex (TSC) is an inherited, multisystemic, hamartomatous neurocutaneous disorder, with an autosomal dominant inheritance pattern. It affects multiple organs, however the most susceptible ones include the brain, skin, kidneys, lungs, the retina, and the heart. TSC is characterized by considerable clinical heterogeneity. Read More

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February 2022

Leiomyomatosis-like lymphangioleiomyomatosis: A case report of the colonic manifestation of tuberous sclerosis.

Medicine (Baltimore) 2021 Dec;100(50):e27723

Department of General Surgery, Istanbul University Cerrahpasa - Cerrahpasa School of Medicine, Istanbul, Turkey.

Introduction: Tuberous sclerosis complex is an inherited multisystemic disorder with manifestations in various organ systems as a result of a mutation of 1 of 2 tumor suppressor genes, tuberous sclerosis complex-1 or tuberous sclerosis complex-2. Perivascular epithelioid cell tumors have been shown to be associated with these gene mutations and include a variety of tumors such as angiomyolipomas and lymphangioleiomyomatosis.

Patient Concerns: In this report, we present a case of a 28-year-old woman presenting with symptoms of severe abdominal pain and nausea with a medical history of cardiac rhabdomyoma, adenoma sebaceum, Ash leaf spots, bilateral renal angiomyolipomas, and retinal hamartoma, which are manifestations of tuberous sclerosis complex. Read More

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December 2021

Case Report: Unusual Clinical Presentation of a Rare Cardiac Inflammatory Myofibroblastic Tumor in Children: The Differential Diagnosis With Pediatric Emergencies.

Front Pediatr 2021 10;9:718157. Epub 2021 Nov 10.

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, Section of Legal Medicine, University of Palermo, Palermo, Italy.

There are still no guidelines about pediatric cardiac cancers. The purpose of this work is to provide new scientific data facilitating the differential diagnosis of a rare cardiac tumor with an unusual presentation, such as the cardiac inflammatory myofibroblastic tumor (IMT). A 3-year-old male child presented with several symptoms including unconsciousness, vomiting, and drowsiness. Read More

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November 2021

Case Report: A Rare Case of a Ventricular Perivascular Epithelioid Cell Tumor With Histologic Characteristics That Resembled a Primary Cardiac Rhabdomyoma.

Front Cardiovasc Med 2021 25;8:709328. Epub 2021 Oct 25.

International Medical Interpreters Association, Boston, MA, United States.

We present the case of a young male patient with an initial diagnosis of a rhabdomyoma that was surgically treated at a different hospital when he was 17. After a 2-year disease-free period, the patient presented another intra-cardiac mass. He refused surgical treatment and died 5 years later. Read More

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October 2021

Prenatal Pericardiocentesis and Postnatal Sirolimus for a Giant Inoperable Cardiac Rhabdomyoma.

JACC Case Rep 2021 Oct 6;3(13):1473-1479. Epub 2021 Oct 6.

Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India.

We describe the case of an antenatally diagnosed massive cardiac tumor in a fetus requiring cardiorespiratory support immediately following birth. We further discuss the successful management of this case and highlight the importance of a multidisciplinary team in managing such complicated cases. (). Read More

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October 2021

Giant cardiac intracavitary mass and suspect rhabdomyomatosis in newborn, in developing country.

Pan Afr Med J 2021;40:22. Epub 2021 Sep 8.

Department of Cardiothoracic and Vascular Surgery, Kenyatta National Hospital and University of Nairobi, Nairobi, Kenya.

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February 2022

Could prevention of infantile spasms have been possible in a historical cohort of 31 tuberous sclerosis patients?

Raili Riikonen

Eur J Paediatr Neurol 2021 Nov 29;35:153-157. Epub 2021 Oct 29.

University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland, Postal Address: Yliopistonranta 1, FI-70110, Kuopio, Finland. Electronic address:

Efforts to prevent epilepsy in infants with tuberous sclerosis complex (TSC) has been the focus of EPISTOP.

Purpose: The present study was carried out to evaluate whether prevention could have been realistic.

Methods: A retrospective analysis by hospital chart review of 31 patients with TSC and infantile spasms (practically all patients) admitted to two tertiary hospitals, Children's Hospital, University of Helsinki and Kuopio in 1980-2000. Read More

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November 2021

[Adult cellular rhabdomyoma of the heart: report of a case].

Zhonghua Bing Li Xue Za Zhi 2021 Nov;50(11):1286-1287

Department of Pathology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.

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November 2021

Cardiac rhabdomyoma as a possible new prenatal sonographic feature of Prader-Willi syndrome.

J Obstet Gynaecol Res 2022 Jan 16;48(1):239-243. Epub 2021 Oct 16.

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

We describe a unique case of a pregnancy with fetal Prader-Willi syndrome (PWS). A 40-year-old pregnant woman prenatally presented with polyhydramnios, decreased fetal movements, fetal growth restriction with normal Doppler study, and fetal cardiac rhabdomyoma, a possible new sonographic markers for PWS, at 31 weeks of gestation. The newborn had hypotonia and feeding difficulty. Read More

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January 2022

Prenatal Sirolimus Treatment for Rhabdomyomas in Tuberous Sclerosis.

Pediatr Neurol 2021 12 25;125:26-31. Epub 2021 Sep 25.

Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio. Electronic address:

Background: In tuberous sclerosis, most cardiac rhabdomyomas regress spontaneously. In some cases, the tumors can cause life-threatening hemodynamic compromise requiring subsequent surgical resection. The mechanistic target of rapamycin inhibitors everolimus and sirolimus have shown to be effective treatments for multiple conditions. Read More

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December 2021

Congenital Solitary Left Atrial Mass.

World J Pediatr Congenit Heart Surg 2021 09;12(5):654-655

Department of Pediatric Cardiology, Children's Hospital New Orleans, Louisiana State University Health Sciences Center, LA, USA.

Rhabdomyoma in the absence of tuberous sclerosis presenting as a large solitary atrial mass is an atypical finding. We hereby present images from an infant with a fetally diagnosed large left atrial mass with no evidence of mitral valve dysfunction who subsequently developed persistent arrhythmias requiring surgical resection of the mass in the neonatal period. Read More

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September 2021

Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy.

Pediatr Dev Pathol 2022 Mar-Apr;25(2):180-185. Epub 2021 Sep 22.

Institute of Pathology, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome (MIM #613001) is a rare congenital neurocutaneous disorder. It is characterized by unilateral ocular, cutaneous and central nervous system anomalies. Key clinical features include hairless fatty tissue nevus of the scalp, choristoma of the eye and intraspinal and intracerebral lipomas. Read More

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A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom.

Front Pediatr 2021 27;9:628238. Epub 2021 Aug 27.

Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, China.

The long-term prognosis of a fetus with cardiac rhabdomyoma (CR) depends on the correlation with tuberous sclerosis complex (TSC). In recent years, the numerous variations of uncertain significance (VUS) of TSC genes produced by high-throughput sequencing have made counseling challenging, studies until now have tended to side-step the tricky topics. Here, we integrated detailed parental phenotype, echocardiography, neuro MRI, and genetic information to conduct a comprehensive evaluation of 61 CR fetuses. Read More

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[Ballantyne syndrome associated with fetal cardiac rhabdomyoma: a case report].

Pan Afr Med J 2021 10;39:116. Epub 2021 Jun 10.

Département de Gynécologie Obstétrique et Endoscopie Gynécologique, Maternité Souissi, Centre Hospitalier Universitaire Ibn Sina, Rabat, Maroc.

Ballantyne syndrome or mirror syndrome was first described in 1892. It is a disorder affecting pregnant women describing the association of fetal anasarca complicated by more or less generalized maternal edema and albuminuria (and sometimes anemia). It is a rare clinical entity. Read More

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October 2021

Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.

Mol Genet Genomic Med 2021 10 4;9(10):e1802. Epub 2021 Sep 4.

Department of Echocardiography, Beijing An Zhen Hospital, Capital Medical University, Beijing, China.

Background: Fetal cardiac rhabdomyoma (CR) is strongly associated with tuberous sclerosis complex (TSC), which is caused by variants in TSC1 and TSC2. However, in 10%-15% of patients with clinically confirmed TSC, no TSC1/TSC2 variants are identified by panel sequencing or multiplex ligation-dependent probe amplification (MLPA).

Methods: We analyzed eight fetuses with CR and their families. Read More

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October 2021

Clinical utility of fetal echocardiography: an Egyptian center experience.

Egypt Heart J 2021 Aug 19;73(1):71. Epub 2021 Aug 19.

Pediatric Department, Pediatric Cardiology Unit, Faculty of Medicine, Ain Shams University, Ramsis Street, Abbasia, Cairo, 11566, Egypt.

Background: The impact of early diagnosis of fetal cardiac abnormalities on the postnatal outcome has been controversial in literature. We aimed to evaluate the role of fetal echocardiography (FE) as a diagnostic tool for early detection and proper management of fetal cardiac abnormalities, study the indications of referral and detect the perinatal outcome in our institution.

Results: This is a cross-sectional observational and descriptive study that included one hundred and one singleton pregnant women (101 fetuses) who were referred for FE over a period of one year. Read More

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[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients].

Rev Neurol 2021 Sep;73(5):141-150

Hospital Infantil Universitario Niño Jesús, 28009 Madrid, España.

Introduction: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment.

Aim: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. Read More

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September 2021

Multiple cardiac fatty deposits in a patient with tuberous sclerosis complex.

BMJ Case Rep 2021 Jul 27;14(7). Epub 2021 Jul 27.

Department of Cardivascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.

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Fetal Tuberous Sclerosis: Sirolimus for the Treatment of Fetal rhabdomyoma.

Fetal Pediatr Pathol 2021 Jul 19:1-7. Epub 2021 Jul 19.

Pediatric Cardiology Unit, Department of Pediatrics, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.

Background: Sirolimus constitutes a safe and effective treatment for cardiac manifestations of tuberous sclerosis complex (TSC) in children but only four cases describing prenatal treatment of rhabdomyomas with mTOR inhibitors have been published.

Case: In this case, sirolimus was initiated at 26 weeks´ gestation in a pregnant woman with TSC with a fetus with a large rabdomyoma conditioning severe arrythmia. There was a significant reduction in the tumor size with ongoing treatment and a partial reversion of the arrythmia. Read More

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Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives.

CNS Drugs 2021 10 17;35(10):1107-1122. Epub 2021 Jul 17.

Division of Nephrology, Medizinische Klinik und Poliklinik IV, Klinikum der LMU München - Innenstadt, München, Germany.

Background: The approval of everolimus (EVE) for the treatment of angiomyolipoma (2013), subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients with tuberous sclerosis complex (TSC) represents the first disease-modifying treatment option available for this rare and complex genetic disorder.

Objective: The objective of this study was to analyse the use, efficacy, tolerability and treatment retention of EVE in patients with TSC in Germany from the patient's perspective.

Methods: A structured cross-age survey was conducted at 26 specialised TSC centres in Germany and by the German TSC patient advocacy group between February and July 2019, enrolling children, adolescents and adult patients with TSC. Read More

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October 2021