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
BMPR2ACVRL1CAV1EIF2AK4ENGGDF2KCNK3NOTCH3RASA1SMAD9
TBX4BMPR1BFOXF1KCNA5SMAD1SMAD4TOPBP1NFUILIPT1FOXRED1
AQP1ATP13A3SOX17KLF2EDN1
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
BMPR2ACVRL1CAV1EIF2AK4
ENGGDF2KCNK3NOTCH3
RASA1SMAD9TBX4BMPR1B
FOXF1KCNA5SMAD1SMAD4
TOPBP1NFUILIPT1FOXRED1
AQP1ATP13A3SOX17KLF2
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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