Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement


DURSUN A., ÖZGÜL R. K. , SOYDAŞ A., Tugrul T., GÜRGEY A., ÇELİKER A., ...More

CLINICAL DYSMORPHOLOGY, vol.18, no.1, pp.19-23, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 1
  • Publication Date: 2009
  • Doi Number: 10.1097/mcd.0b013e32831841f7
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.19-23
  • Keywords: atrial septal defect, bone morphogenetic protein receptor 2, familial pulmonary arterial hypertension, leucopenia, transforming growth factor pathway, GROWTH-FACTOR-BETA, MUTATIONS
  • Hacettepe University Affiliated: Yes

Abstract

We present two siblings with identical clinical findings that seem to represent a previously unreported familial syndrome. Major findings involve three systems: pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, and the hematopoietic system with intermittent neutropenia, lymphopenia, monocytosis, and anemia. The siblings also shared several minor abnormalities: pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high-arched palate. The male proband also had bilateral inguinal hernias and undescended testes. The same findings in two siblings suggest a genetic cause-either an autosomal recessive disorder or germline mosaicism in one parent for a dominant mutation. Investigations revealed a bone morphogenetic protein receptor 2 polymorphism in intron 4 in only one sibling, which was also present in unaffected maternal relatives. Clin Dysmorphol 18:19-23 (c) 2009 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.