Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.
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.
Dursun
Ali
A
Faculty of Medicine, Departments of Pediatrics, Metabolism and Nutrition Unit Immunology Unit Hematology Unit Cardiology Unit Institute of Child Health, Hacettepe University, Ankara, Turkey Departments of Pediatrics, Pediatric Cardiology Clinical Psychiatry Clinical Pathology Department of Medicine, Columbia University College of Physicians and Surgeons, New York, USA.
Ozgul
R Koksal
RK
Soydas
Asli
A
Tugrul
Tugba
T
Gurgey
Aytemiz
A
Celiker
Alpay
A
Barst
Robyn J
RJ
Knowles
James A
JA
Mahesh
Mansukhani
M
Morse
Jane H
JH
D005260:Female; D006344:Heart Septal Defects, Atrial / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D006976:Hypertension, Pulmonary / Q000473:pathology* / Q000503:physiopathology; D007223:Infant; D007970:Leukopenia / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D013577:Syndrome