Isolated Left Ventricular Noncompaction in a Case of Sotos Syndrome: A Casual or Causal Link?

Patrizia Saccucci,Roberta Martinoli,Maria Banci,Federica Papetti,Asgharnejad Fahim,Federica Ferrante,Andrea Marcantonio,Ursula Tuderti,Paolo Di Renzi,Alessandro Dofcaci

doi:10.4061/2011/824095

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.

Highlights

Sotos syndrome [1] is an autosomal dominant condition, mainly occurring as a neomutation, characterized by a distinctive facial appearance, learning disability, and overgrowth resulting in tall stature and macrocephaly
Some sporadic forms of isolated left ventricular noncompaction (ILVNC) are reported to be caused by a mutation on CSX gene, mapping on chromosome 5q35
In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1 gene, which encodes a histone methyltransferase involved in chromatin regulation mechanism

Summary

Introduction

Sotos syndrome [1] is an autosomal dominant condition, mainly occurring as a neomutation, characterized by a distinctive facial appearance, learning disability, and overgrowth resulting in tall stature and macrocephaly. This syndrome is known to be associated in 25% of cases with renal and cardiac abnormalities, such as patent ductus arteriosus, ventricular and/or atrial septal defects, seizures and/or scoliosis, and less frequently with a broad variety of additional features (hearing loss, abnormal vision, and thyroid disorders). In 2002, Sotos syndrome was shown to be caused by mutations and deletions of NSD1 gene, which encodes a histone methyltransferase involved in chromatin regulation mechanism. We report a case of a patient with Sotos syndrome, who met echocardiographic criteria for ILVNC

Case Report

Findings

Discussion