Title |
Rhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases
|
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Published in |
BMC Cardiovascular Disorders, May 2014
|
DOI | 10.1186/1471-2261-14-66 |
Pubmed ID | |
Authors |
Pietro Sciacca, Valentina Giacchi, Carmine Mattia, Filippo Greco, Pierluigi Smilari, Pasqua Betta, Giuseppe Distefano |
Abstract |
Rhabdomyomas are the most common type of cardiac tumors in children. Anatomically, they can be considered as hamartomas. They are usually randomly diagnosed antenatally or postnatally sometimes presenting in the neonatal period with haemodynamic compromise or severe arrhythmias although most neonatal cases remain asymptomatic. Typically rhabdomyomas are multiple lesions and usually regress spontaneously but are often associated with tuberous sclerosis complex (TSC), an autosomal dominant multisystem disorder caused by mutations in either of the two genes, TSC1 or TSC2. Diagnosis of tuberous sclerosis is usually made on clinical grounds and eventually confirmed by a genetic test by searching for TSC genes mutations. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 1% |
Unknown | 80 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 12 | 15% |
Researcher | 10 | 12% |
Student > Ph. D. Student | 8 | 10% |
Student > Postgraduate | 7 | 9% |
Other | 6 | 7% |
Other | 19 | 23% |
Unknown | 19 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 42 | 52% |
Biochemistry, Genetics and Molecular Biology | 4 | 5% |
Neuroscience | 3 | 4% |
Nursing and Health Professions | 2 | 2% |
Agricultural and Biological Sciences | 1 | 1% |
Other | 5 | 6% |
Unknown | 24 | 30% |