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Cardiac Tumours
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
Most rhabdomyomas regress spontaneously, and management is therefore conservative in asymptomatic patients. Occasionally, surgical resection is indicated when large tumours cause severe haemodynamic complications or recurrent resistant arrhythmias.
Developmental Diseases of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
James H. Tonsgard, Nikolas Mata-Machado
Complications such as congestive heart failure and arrhythmias are due to rhabdomyomas. These are apparent in the fetus on ultrasound. They are present in 30–50% of patients and are only symptomatic in a small percentage of patients within the first few months of life. Thereafter, the tumors tend to regress and remain asymptomatic.
The nervous system and the eye
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
James A.R. Nicoll, William Stewart, Fiona Roberts
This is a Mendelian dominant condition that occurs in 1/100,000 and is caused by mutations in the TSC1 or TSC2 gene. It is characterized by seizures, learning difficulties and various skin manifestations. Rhabdomyomas of the heart occur in a third of cases. The brain may be small, normal, or increased in size, the most characteristic feature being the presence of pale, firm tubers in the cerebral cortex.
Möbius syndrome with cardiac rhabdomyomas
Published in Ophthalmic Genetics, 2018
Aimee Verner, Swati Agarwal-Sinha, Frank Yanfeng Han
Möbius syndrome, according to the Möbius Syndrome Foundation Research Conference in 2007, is described as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Associated features may include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems. The most common associated features include limb malformations and orofacial dysmorphism (1,2). In rare cases, Möbius syndrome is reported associated with Poland syndrome (3,4), peripheral neuropathy (5), hypogonadotropic hypogonadism (5), and neurofibromatosis (6). We report the case of a newborn followed from birth to 18 months of age. He was born with multiple craniofacial abnormalities and cranial nerve palsies consistent with a clinical diagnosis of Möbius syndrome. On further workup, he was found to have cardiac rhabdomyomas. Microarray analysis revealed a segmental loss at 21q21.2. Genetic testing for tuberous sclerosis was negative for deletion or duplications of genes TSC1 and TSC2.