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• W4285238488 abstract "Pulmonary arterial hypertension (PAH) causes cardiorespiratory morbidity and leads to early death. A molecular diagnosis can provide tailored management and identifies at-risk family members. The diagnostic yield of genetic testing in clinical cohorts is reported to be 10%-30%, but there are few reports on results in more heterogeneous cohorts. We describe the genetic findings in this latter group to provide further support for testing in PAH patients. Affected patients who underwent genetic testing (sequencing and copy number variant (CNV) analysis) for a targeted PAH panel were reviewed. A diagnostic variant was defined as the identification of a pathogenic (P) or likely pathogenic (LP) variant(s), classified using a modified American College of Medical Genetics and Genomics–Association of Molecular Pathology (ACMG–AMP) classification scheme. Diagnostic variants were identified in 20.7% of patients; the most common finding was in BMPR2 (12.0% of patients, 58.0% of all diagnostic variants). Diagnostic CNVs were identified in 2.5% of all patients; of these, 50% were intragenic. Diagnostic variants in ABCC8, GDF2, and ACVRL1 were only identified in adult patients. Diagnostic variants in FOXF1, SOX17, CAV1, and TBX4 were only identified in paediatric patients. The diagnostic yield was similar in paediatric (n=21; 18.1%) and adult patients (n=29; 23.2%), p=0.33. Similar to PAH clinical cohorts, we demonstrated: (1) the yield of genetic testing is 20%; (2) BMPR2 explains the majority of diagnoses; (3) causative genes are different in paediatric and adult patients. In contrast, the yield of genetic testing was not significantly different between children and adults. One in 5 patients with PAH who undergoes Next Generation Sequencing (NGS) panel testing receives an informative result." @default.
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• W4285238488 date "2022-01-01" @default.
• W4285238488 modified "2023-10-15" @default.
• W4285238488 title "Genetic Testing for Pulmonary Arterial Hypertension: Diagnostic Yield and Findings From a Cohort of Patients Referred for Targeted Panel Testing" @default.
• W4285238488 doi "https://doi.org/10.1016/j.hlc.2022.04.017" @default.
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