- The ESC/ERS 2015 guidelines on diagnosis and treatment of pulmonary hypertension recommend genetic testing and counselling for adults and children with PAH (both sporadic and familial) or PVOD/PCH, as well as for relatives at risk of being carriers.
- In some cases, an adequate diagnosis allows establishing risk stratification and/or reclassifying the disease, therefore providing the patient with a more suitable management and follow-up. For example, patients carrying pathogenic mutations in genes BMPR2 or ACVRL1 show a poorer prognosis than non-carriers.
- Performing familial genetic screening when a causative pathogenic mutation is found in the index case allows detecting carrier relatives at risk of developing the disease and avoiding unnecessary follow-up of non-carrier relatives. Clinical variability and incomplete penetrance of this disease must be taken into account: carriers must undergo adequate clinical follow-up, even though not all of them will develop the disease.
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