Pulmonary Hypertension

Pulmonary Arterial Hypertension
[25 genes]

BMPR2, the main gene related to PAH, accounting for 75% of familial PAH cases and 25% of idiopathic cases.

Genes related to PAH associated with other disorders, such as hereditary hemorrhagic telangiectasia (ACVRL1, ENG), alveolar capillary dysplasia with misalignment of the pulmonary veins (FOXF1), or pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis (EIF2AK4).

Other secondary genes which have been recently associated with the disease, as well as candidate genes arising from a systematic review of the literature.

Informed consent
BMPR2 ACVRL1 CAV1 EIF2AK4 ENG GDF2 KCNK3 NOTCH3 RASA1 SMAD9
TBX4 BMPR1B FOXF1 KCNA5 SMAD1 SMAD4 TOPBP1 NFUI LIPT1 FOXRED1
AQP1 ATP13A3 SOX17 KLF2 EDN1
Pulmonary Arterial Hypertension Panel [25 genes]

BMPR2, the main gene related to PAH, accounting for 75% of familial PAH cases and 25% of idiopathic cases.

Genes related to PAH associated with other disorders, such as hereditary hemorrhagic telangiectasia (ACVRL1, ENG), alveolar capillary dysplasia with misalignment of the pulmonary veins (FOXF1), or pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis (EIF2AK4).

Other secondary genes which have been recently associated with the disease, as well as candidate genes arising from a systematic review of the literature.

Informed consent
BMPR2 ACVRL1 CAV1 EIF2AK4
ENG GDF2 KCNK3 NOTCH3
RASA1 SMAD9 TBX4 BMPR1B
FOXF1 KCNA5 SMAD1 SMAD4
TOPBP1 NFUI LIPT1 FOXRED1
AQP1 ATP13A3 SOX17 KLF2
EDN1
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.
  • 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.
  • Aepc C, Society I, Uk SG, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J. 2015; 46:903-975. doi: 10.1183/13993003.01032-2015
  • Frost A, Badesch D, Gibbs JSR, et al. Diagnosis of pulmonary hypertension. Eur Respir J. 2019; 53: 1801904. doi.org/10.1183/13993003.01904-2018
  • Morrell NW, Aldred MA, Chung WK, et al. Genetics and genomics of pulmonary arterial hypertension. Eur Respir J 2019; 53: 1801899. doi.org/10.1183/13993003.01899-2018

The yield of the genetic testing on PAH through the use of massive sequencing panels has not been completely assessed. It is generally around 55%, being higher in cases with familial PAH or PAH related to other disorders (HHT), where it can reach values of over 80%.

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