A Rare Case of Multi-System Involvement and Hereditary Pulmonary Hypertension Caused by De Novo Heterozygous CAV1 Mutation in a Pediatric Patient
Abstract
Highlights What are the main findings? A rare pediatric case of hereditary PAH due to a de novo CAV1 mutation (c.424C > T, p.Q142X) with multi-system involvement (facial features, telangiectasia, cutis marmorata, cataract, and lipodystrophy) is presented. Despite sequential combination therapy with tadalafil, ambrisentan, selexipag, and treprostinil, the patient progressed and died from a pulmonary hypertensive crisis and multi-organ failure following severe gastroenteritis at age 13. What is the implication of the main finding? Pediatric CAV1-related PAH presents aggressively with multi-system involvement; early genetic diagnosis and regular follow-up are critical. Current PAH therapies show limited efficacy in this subtype; lung transplantation or mechanical support should be considered when conventional treatment fails. Abstract Background: Pulmonary arterial hypertension is a rare but life-threatening condition in children, with hereditary forms often being linked to mutations in genes such as bone morphogenetic protein receptor type 2 (BMPR2), caveolin 1 (CAV1), and potassium channel subfamily K member 3 (KCNK3). Among these, CAV1 mutations are associated with severe disease phenotypes, though cases resulting from de novo heterozygous CAV1 mutations with multi-system involvement remain rarely reported. The CAV1 mutation (c.424C > T, p.Q142X) disrupts caveolin-1 function, leading to dysregulated pulmonary vascular remodeling and multi-system abnormalities. Methods: This…
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