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Isolated Left Ventricular Noncompaction in a Newborn With Pierre-Robin Sequence

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Abstract

Pierre-Robin sequence or syndrome (PRS) (OMIM #261800) is characterized by a small mandible (micrognathia), posterior displacement/retraction of the tongue (glossoptosis), and upper airway obstruction. It has an incidence varying from 1 in 8,500 to 1 in 30,000 births. Congenital heart defects (CHDs) occur in 20 % of the patients with PRS. Ventricular septal defect, patent ductus arteriosus, and atrial septal defects are the most common lesions. Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. It is thought to be caused by arrest of the normal endomyocardial morphogenesis. Isolated left ventricular noncompaction (LVNC) in patients with PRS has not been reported previously. This report describes a newborn with PRS and isolated LVNC. Previously, LVNC has been reported in association with mitochondrial disorders, Barth syndrome hypertrophic cardiomyopathy, zaspopathy, muscular dystrophy type 1, 1p36 deletion, Turner syndrome, Ohtahara syndrome, distal 5q deletion, mosaic trisomy 22, trisomy 13, DiGeorge syndrome, and 1q43 deletion with decreasing frequency. Karyotype analysis of the reported patient showed normal chromosomes (46, XX), and a fluorescent in situ hybridization study did not show chromosome 22q11.2 deletion. This is the first clinical report of a patient with isolated LVNC and PRS. Noncompaction of the ventricular myocardium is a rare and unique disorder with characteristic morphologic features that can be identified by echocardiography. Long-term follow-up evaluation for development of progressive LV dysfunction and cardiac arrhythmias is indicated for these patients.

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Author information

Correspondence to Ebru Aypar.

Electronic supplementary material

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Video clip 1 Apical four-chamber transthoracic echocardiographic view showing prominent trabeculations and deep intrabecular recesses in the left ventricle. (WMV 1689 kb)

Video clip 2 Short-axis transthoracic echocardiographic view of the left ventricle showing prominent trabeculations and deep intrabecular recesses in the left ventricle. (WMV 2112 kb)

Video clip 3 Color-flow Doppler showing blood flow from the ventricular cavity into the deep intertrabecular recesses. (WMV 765 kb)

Video clip 1 Apical four-chamber transthoracic echocardiographic view showing prominent trabeculations and deep intrabecular recesses in the left ventricle. (WMV 1689 kb)

Video clip 2 Short-axis transthoracic echocardiographic view of the left ventricle showing prominent trabeculations and deep intrabecular recesses in the left ventricle. (WMV 2112 kb)

Video clip 3 Color-flow Doppler showing blood flow from the ventricular cavity into the deep intertrabecular recesses. (WMV 765 kb)

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Aypar, E., Sert, A., Gokmen, Z. et al. Isolated Left Ventricular Noncompaction in a Newborn With Pierre-Robin Sequence. Pediatr Cardiol 34, 452–454 (2013) doi:10.1007/s00246-012-0294-8

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Keywords

  • Left ventricular noncompaction
  • Noncompaction
  • Noncompaction of ventricular myocardium
  • Pierre-Robin sequence