title: Isolated left ventricular noncompaction in a case of sotos syndrome: a casual or causal link?
abstract: A 16-year-old boy affected by Sotos syndrome was referred to our clinic for cardiac evaluation in order to play noncompetitive sport. Physical examination was negative for major cardiac abnormalities and rest electrocardiogram detected only minor repolarization anomalies. Transthoracic echocardiography showed left ventricular wall thickening and apical trabeculations with deep intertrabecular recesses, fulfilling criteria for isolated left ventricular noncompaction (ILVNC). Some sporadic forms of ILVNC are reported to be caused by a mutation on CSX gene, mapping on chromosome 5q35. To our knowledge, this is the first report of a patient affected simultaneously by Sotos syndrome and ILVNC.
authors: Department of Biopathology and Imaging Diagnostics, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
authors: Patrizia
authors: P
authors: Saccucci
authors: Federica
authors: F
authors: Papetti
authors: Roberta
authors: R
authors: Martinoli
authors: Alessandro
authors: A
authors: Dofcaci
authors: Ursula
authors: U
authors: Tuderti
authors: Andrea
authors: A
authors: Marcantonio
authors: Paolo
authors: P
authors: Di Renzi
authors: Asgharnejad
authors: A
authors: Fahim
authors: Federica
authors: F
authors: Ferrante
authors: Maria
authors: M
authors: Banci