Eisenmenger syndrome and atrial septal defect: nature or nurture?
BACKGROUND
It has long been debated whether patients with atrial septal defect (ASD) Eisenmenger syndrome have idiopathic pulmonary arterial hypertension with an incidental ASD or severe pulmonary hypertension on the basis of their ASD shunt magnitude alone.


OBJECTIVE
It was hypothesized that if ASD Eisenmenger patients had idiopathic pulmonary arterial hypertension with an incidental ASD, a mutation in the bone morphogenetic protein receptor-2 (BMPR2) would be found in some of these patients.


METHODS
All adult patients with ASD Eisenmenger syndrome were identified from the databases of two adult congenital cardiac units, and were matched to a control group with similar types of ASDs and no pulmonary hypertension. Gene coding for BMPR2 was examined for mutation using denaturing high-performance liquid chromatography of the entire coding sequence.


RESULTS
Eighteen adult patients with ASD Eisenmenger syndrome and 18 control patients were identified. ASD Eisenmenger patients had significantly larger ASDs than the control patients (3.7+/-1.2 cm versus 1.9+/-0.7 cm, P<0.01). A mutation in BMPR2 was not detected in either group.


CONCLUSIONS
ASD Eisenmenger syndrome may occur without BMPR2 mutation. Whether shunt magnitude alone or in combination with yet another genetic mutation is responsible for the development of pulmonary hypertension in these patients remains to be determined.
Therrien
Judith
J
Toronto Congenital Cardiac Centre for Adults, Toronto General Hospital, Canada. jtherrien@cardio.jgh.mcgill.ca
Rambihar
Sherryn
S
Newman
Bill
B
Siminovitch
Kathy
K
Langleben
David
D
Webb
Gary
G
Granton
John
J
D000328:Adult; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics*; D016022:Case-Control Studies; D017931:DNA Primers; D004541:Eisenmenger Complex / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D007438:Introns; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009864:Ontario; D011669:Pulmonary Wedge Pressure / Q000235:genetics; D011792:Quebec; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic
D017931:DNA Primers; D052006:Bone Morphogenetic Protein Receptors, Type II