During the foetal-neonatal period, rhabdomyomas represent the majority of cardiac tumours and are closely associated with tuberous sclerosis. Cardiac rhabdomyomas may be completely asymptomatic and are incidentally discovered during an echocardiogram, or may cause cardiac dysfunctions requiring medical and/or surgical intervention. During foetal life and the early neonatal period, life-threatening conditions, mostly due to arrhythmias, cardiac failure or obstruction, do occur on rare occasions. We reviewed the medical records of all cases of cardiac rhabdomyomas diagnosed prenatally or postnatally over an 8-year period. The present study reviews 7 cases of life-threatening conditions. Arrhythmic episodes were described in 5 patients, and blood flow obstruction was reported in 2 cases. Antiarrhythmic agents successfully controlled the clinical and electrophysiological conditions. Obstructive conditions were associated with poor outcomes. In conclusion, when prenatal diagnosis of rhabdomyoma is made, appropriate planning at delivery for the management of potential haemodynamic complications may prevent adverse neonatal outcomes. The clinical outcome is more influenced by obstructive rather than by dysrhythmic complications. Appropriate antiarrhythmic treatment is of primary importance. In all cases discovered through prenatal and/or neonatal life-threatening conditions, an accurate follow-up should always be performed to anticipate the development of tuberous sclerosis.
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http://dx.doi.org/10.1159/000320483 | DOI Listing |
Arch Gynecol Obstet
January 2025
Department of Congenital Cardiac Surgery, IRCCS Policlinico San Donato, 20097, San Donato, Milan, Italy.
Objectives: Congenital thoracic masses (CTMs) are suspected in presence of solid or cystic thoracic lesions at ultrasound. The common typical fetal CTMs encompass: hyperechogenic lung lesions such as congenital pulmonary airway malformation (CPAM), broncopulmonary sequestration (PS) and congenital high airway obstruction syndrome (CHAOS); less common solid thoracic masses are mediastinal/pericardial tumors as rhabdomyoma and teratoma. The aim of our study is to gather the available evidence on cases of atypical CTMs of difficult classification, for which the diagnosis remains often uncertain.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Department of Obstetrics and Gynecology, Bokoi Tenshi Hospital, N12E3, Higashi-Ku, Sapporo, Hokkaido, 060-0012, Japan.
Fetal cardiac tumors are often the first clinical manifestation of tuberous sclerosis (TS) when fetal ultrasound screening is performed. TS is an autosomal dominant disorder caused by the mutations in or genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth.
View Article and Find Full Text PDFDiscov Oncol
January 2025
Department of Pathology, St. Paul Millennium Medical College and ONCO Pathology Diagnostic Center, Addis Ababa, Ethiopia.
Rhabdomyoma is a rare benign tumor of striated muscle, which can be either cardiac or extracardiac. Extracardiac rhabdomyomas can occur throughout the body, though the fetal and adult subtypes are most commonly found in the head and neck region.We present three pediatric cases of extracardiac rhabdomyoma, fetal subtype, detailing their clinical presentations, computed tomography imaging, and tissue biopsy findings.
View Article and Find Full Text PDFMol Genet Genomics
December 2024
Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.
View Article and Find Full Text PDFMultimed Man Cardiothorac Surg
December 2024
Maria Fareri Children's Hospital, Westchester Medical Center, Valhalla, NY, USA.
A 2-week-old, 2.6-kg neonate without tuberous sclerosis presented with a severe right ventricular outflow tract obstruction secondary to a large mass. Transthoracic echocardiography revealed a maximum right ventricular outflow tract gradient of at least 95 mmHg.
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