Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy

Excerpt

We report on a female infant with a partial 4q trisomy and 1q monosomy who presented from birth an isolated non-compaction of the left ventricular myocardium (ILVNC). The baby was born at 37 weeks with a birth weight of 2120 g. At the last clinical examination (age 24 months), she presented a senile-like appearance, narrow palpebral fissures, telecanthus, epicanthus, a broad nasal bridge, low set and posterior angulated ears, a long philtrum, and a mouth with a thin vermilion border and dimple below the lower lip (Fig. 1). She also had an anteriorly displaced anus and rocker-bottom feet. Neurological examination disclosed hypotonia and severe mental retardation. Cerebral MRI showed moderate ventricular dilatation and a hypoplastic corpus callosum. 2D-echocardiography revealed multiple, prominent myocardial trabeculations and numerous recesses at the left ventricular apical and mid-ventricular level, perfused by the main left ventricular cavity (Fig. 2). Systolic and diastolic functions were normal. An ECG showed sinus rhythm with non-specific intraventricular conduction delay. No arrhythmias or embolic events occurred. Chromosomes were scored by R (RBG) banding and fluorescence in-situ hybridisation with chromosomes 1 and 4 specific painting probes. The proband’s karyotype (46,XX der (1)(1pter→1q43::4q31→4qter) revealed an unbalanced segregation of a balanced t(1;4)(q43;q31) translocation detected in the normal father. The patient was trisomic for the 4q31→qter region and monosomic for the 1q43→1qter segment.

…