What question did this study set out to answer?

To determine whether asymptomatic carriers of a mutated primary pulmonary hypertension (PPH) gene can be identified at an early stage by their pulmonary artery systolic pressure (PASP) response to exercise.

September 5, 2000CirculationOpen Access

Abnormal Pulmonary Artery Pressure Response in Asymptomatic Carriers of Primary Pulmonary Hypertension Gene

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Why the study?

Does stress Doppler echocardiography identify asymptomatic carriers of the primary pulmonary hypertension gene?

Population

52 members of 2 families with familial primary pulmonary hypertension (PPH)

Comparison

Stress Doppler echocardiography during supine… vs Normal pulmonary artery systolic pressure…

Design

Cross-sectional

Authors

EGEkkehard GrünigVascular Medicine BJBart JanssenThermo Fisher Scientific (Netherlands)DMDerliz MerelesHeidelberg University

Discussion

Member takes

Implication

Exercise PASP rise may flag asymptomatic PPH gene carriers in families; supports linkage but leaves open screening utility.

Key Points

To determine whether asymptomatic carriers of a mutated primary pulmonary hypertension (PPH) gene can be identified at an early stage by their pulmonary artery systolic pressure (PASP) response to exercise.
Evaluated 52 members from 2 families with familial PPH using stress Doppler echocardiography during supine bicycle exercise.
Performed molecular genetic linkage analysis mapping to chromosome 2q31-32 to correlate exercise PASP responses with risk haplotypes.
Four established PPH patients had elevated resting PASP (73±16 mm Hg), while 14 asymptomatic relatives showed an abnormal exercise PASP increase (from 23±4 to 56±11 mm Hg) compared to 27 normal responders (from 24±4 to 37±3 mm Hg, P<0.0001).
All 14 abnormal responders and only 2 normal responders carried the risk haplotype, confirming genetic linkage to chromosome 2q31-32 with a logarithm of the odds score of 4.4.

Structured PICO

Does stress Doppler echocardiography identify asymptomatic carriers of the primary pulmonary hypertension gene?

Population

52 members of 2 families with familial primary pulmonary hypertension (PPH)

Intervention

Stress Doppler echocardiography during supine bicycle exercise and genetic linkage analysis

Comparator

Normal pulmonary artery systolic pressure (PASP) response to exercise

Outcome

Pulmonary artery systolic pressure (PASP) response to exercise and genetic linkage to chromosome 2q31-32surrogate

Stress Doppler echocardiography can identify asymptomatic carriers of the primary pulmonary hypertension gene by detecting a pathological rise in pulmonary artery systolic pressure during exercise.

Cite This Study

Grünig et al. (2000) studied this question.

synapsesocial.com/papers/6a711a9426a7f98052dd86fc https://doi.org/10.1161/01.cir.102.10.1145

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Abnormal Pulmonary Artery Pressure Response in Asymptomatic Carriers of Primary Pulmonary Hypertension Gene

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Abnormal Pulmonary Artery Pressure Response in Asymptomatic Carriers of Primary Pulmonary Hypertension Gene

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Also Consider

Also Consider