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Selected Publication:
Grünig, E; Janssen, B; Mereles, D; Barth, U; Borst, MM; Vogt, IR; Fischer, C; Olschewski, H; Kuecherer, HF; Kübler, W.
Abnormal pulmonary artery pressure response in asymptomatic carriers of primary pulmonary hypertension gene.
Circulation. 2000; 102(10):1145-1150
Doi: 10.1161/01.CIR.102.10.1145
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- Co-authors Med Uni Graz
- Olschewski Horst
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- Abstract:
- BACKGROUND: Familial primary pulmonary hypertension (PPH) is an autosomal-dominant inherited disease with incomplete penetrance and poor prognosis. This study was performed to examine whether asymptomatic carriers of a mutated PPH gene can be identified at an early stage by their pulmonary artery systolic pressure (PASP) response to exercise. METHODS AND RESULTS: Stress Doppler echocardiography during supine bicycle exercise and genetic linkage analysis were performed on 52 members of 2 families with PPH. In 4 PPH patients, the mean PASP was increased at rest (73+/-16 mm Hg). Fourteen additional family members with normal PASP at rest revealed an abnormal PASP response to exercise (from 23+/-4 to 56+/-11 mm Hg) without secondary cause (abnormal response [AR] group). Twenty-seven other members (NR group) revealed a normal PASP response (maximal pressure <40 mm Hg) to exercise (from 24+/-4 to 37+/-3 mm Hg, P<0. 0001). All 14 AR but only 2 NR members shared the risk haplotype with the PPH patients. The molecular genetic analysis supported linkage to chromosome 2q31-32 with a logarithm of the odds score of 4.4 when the 4 patients and the 14 AR members were classified as affected. CONCLUSIONS: We conclude that the pathological rise of PASP in asymptomatic family members is linked to chromosome 2q31-32 and is probably an early sign of PPH. Therefore, stress Doppler echocardiography may be a useful tool to identify persons at risk for PPH even before pulmonary artery pressures at rest are elevated.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Aged -
- Child -
- Echocardiography, Doppler -
- Exercise - physiology
- Female - physiology
- Haplotypes - physiology
- Heterozygote - physiology
- Humans - physiology
- Hypertension, Pulmonary - genetics
- Male - genetics
- Middle Aged - genetics
- Pedigree - genetics
- Pulmonary Wedge Pressure - physiology
- Find related publications in this database (Keywords)
- hypertension
- pulmonary
- echocardiography
- genetics