CAV1 and pulmonary arterial hypertension: Two separate studies have since identified CAV1 mutations in PAH patients; the first identified a novel heterozygous frameshift mutation in an adult PAH patient with a paediatric-onset daughter who died at nine years old [140], and the second identified deleterious variants in 10 patients with I/F/APAH, with three related cases carrying the same likely gene damaging mutation [25].