Unknown

Dataset Information

0

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.

SUBMITTER: Saccucci P 

PROVIDER: S-EPMC3130988 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

altmetric image

Publications

Isolated left ventricular noncompaction in a case of sotos syndrome: a casual or causal link?

Saccucci Patrizia P   Papetti Federica F   Martinoli Roberta R   Dofcaci Alessandro A   Tuderti Ursula U   Marcantonio Andrea A   Di Renzi Paolo P   Fahim Asgharnejad A   Ferrante Federica F   Banci Maria M  

Cardiology research and practice 20110612


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 o  ...[more]

Similar Datasets

| S-EPMC6279981 | biostudies-literature
| S-EPMC2995903 | biostudies-literature
| S-EPMC3423290 | biostudies-literature
| S-EPMC8080348 | biostudies-literature
| S-EPMC8428628 | biostudies-literature
| S-EPMC9945848 | biostudies-literature
| S-EPMC7566488 | biostudies-literature
| S-EPMC3825551 | biostudies-literature
| S-EPMC8299769 | biostudies-literature
| S-EPMC7196453 | biostudies-literature