Atrio-ventricular valve dysplasia in 22 newborn infants

Int J Cardiol. 1997 Apr 18;59(2):113-8. doi: 10.1016/s0167-5273(97)02937-9.

Abstract

We retrospectively studied the experience of our institution with isolated dysplasia of one or both atrio-ventricular valves in 22 newborn infants. All patients with associated cardiac malformations were excluded. Ten patients exhibited isolated tricuspid valve dysplasia. One patient had tricuspid valve dysplasia and a dysplastic pulmonary valve. In 10 patients, both atrio-ventricular valves were affected. Finally, mitral valve dysplasia was associated with pulmonary valve stenosis in 1 case. Associated syndromes and/or chromosomal anomalies were: Down syndrome (n=2), trisomy 18 (n=1), Noonan syndrome (n=1), Marfan syndrome (n=3), Ehlers-Danlos and Cutis laxa (n=2). Mortality was 27.2% during follow-up (mean 51 months): 3 patients with chromosomal aneuploidies, 2 patients with severe neonatal Marfan syndrome and 1 with Ehlers-Danlos. Complications were: sustained supra-ventricular tachycardia in 3, neonatal staphylococcal tricuspid valve endocarditis in 1, persistent significant valvular disease in 8. In the remaining 9 survivors, the dysplasia of the atrio-ventricular valves persists with absent or mild incompetence. Beside obvious chromosomal anomalies, newborn infants with dysplastic valves should be investigated for manifestations of connective tissue disorders. This may help to identify new pleiotropic syndromes which include valvular dysplasia as one manifestation.

MeSH terms

  • Aneuploidy
  • Chromosomes, Human, Pair 18
  • Connective Tissue Diseases / diagnosis
  • Connective Tissue Diseases / genetics
  • Cutis Laxa / complications
  • Down Syndrome / complications
  • Ehlers-Danlos Syndrome / complications
  • Endocarditis, Bacterial / etiology
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Marfan Syndrome / complications
  • Mitral Valve / abnormalities*
  • Mitral Valve Insufficiency / etiology
  • Noonan Syndrome / complications
  • Pulmonary Valve / abnormalities
  • Pulmonary Valve Stenosis / complications
  • Retrospective Studies
  • Staphylococcal Infections
  • Survival Rate
  • Tachycardia, Supraventricular / etiology
  • Tricuspid Valve / abnormalities*
  • Tricuspid Valve Insufficiency / etiology
  • Trisomy