A fetal echocardiogram revealed a large right ventricular mass. After birth, the infant had pulmonary blood flow obstruction with cyanosis. The size and characteristics of the tumor prevented resection. The patient underwent placement of a systemic-to-pulmonary shunt as another alternative. This palliation allowed discharge from the hospital and provided good relief for the cyanosis until the tumor became resectable. The pathologic examination revealed a cardiac fibroma.
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http://dx.doi.org/10.1016/j.athoracsur.2010.02.046 | DOI Listing |
BMJ Case Rep
January 2025
Medicine, Government Medical College Kota, Kota, Rajasthan, India.
This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.
View Article and Find Full Text PDFJACC Case Rep
December 2024
Medical and Surgical unit of Congenital and Paediatric Cardiology, Reference Centre for Complex Congenital Heart Defects-M3C, University Hospital Necker-Enfants Malades, Paris, France.
Cardiac fibroma is the second most common childhood cardiac tumor. Coronary arteries are typically unaffected. A 5-month-old infant received a diagnosis of giant cardiac fibroma with coronary involvement.
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 PDFClin Cosmet Investig Dermatol
December 2024
Department of Pathology, College of Basic Medicine of Inner Mongolia Medical University, Hohhot, Inner Mongolia, 010059, People's Republic of China.
Background: Tuberous sclerosis complex (TSC) is a rare autosomal-dominant disorder involving multiple organs including skin, brain, heart, lung, kidney and liver. It usually occurs as early as birth or even in utero, with rare cases diagnosed in their adulthood. Here, we present a rare adult case of TSC presenting as periungual fibromas (PF).
View Article and Find Full Text PDFMedicina (Kaunas)
October 2024
Department of Plastic and Reconstructive Surgery, Dongtan Sacred Heart Hospital, Hallym University College of Medicine, 7 Keunjaebong-gil, Hwaseong-si 18450, Gyeonggi-do, Republic of Korea.
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