Genetics dictating therapeutic decisions in pediatric pulmonary hypertension? A case report suggesting we are getting closer.

Autor: Stevens L; Department of Pediatrics University of California San Francisco San Francisco California USA., Colglazier E; Department of Nursing University of California San Francisco San Francisco California USA., Parker C; Department of Nursing University of California San Francisco San Francisco California USA., Amin EK; Department of Pediatrics University of California San Francisco San Francisco California USA., Nawaytou H; Department of Pediatrics University of California San Francisco San Francisco California USA., Teitel D; Department of Pediatrics University of California San Francisco San Francisco California USA.; Cardiovascular Research Institute University of California San Francisco San Francisco California USA., Reddy VM; Department of Surgery University of California San Francisco San Francisco California USA., Welch CL; Department of Pediatrics and Medicine Columbia University Irving Medical Center New York New York USA., Chung WK; Department of Pediatrics and Medicine Columbia University Irving Medical Center New York New York USA., Fineman JR; Department of Pediatrics University of California San Francisco San Francisco California USA.; Cardiovascular Research Institute University of California San Francisco San Francisco California USA.
Jazyk: angličtina
Zdroj: Pulmonary circulation [Pulm Circ] 2022 Jan 18; Vol. 12 (1), pp. e12033. Date of Electronic Publication: 2022 Jan 18 (Print Publication: 2022).
DOI: 10.1002/pul2.12033
Abstrakt: Despite therapeutic advances over the past decades, pulmonary arterial hypertension (PAH) and related pulmonary vascular diseases continue to cause significant morbidity and mortality in neonates, infants, and children. Unfortunately, an adequate understanding of underlying biology is lacking. There has been a growing interest in the role that genetic factors influence pulmonary vascular disease, with the hope that genetic information may aid in identifying disease etiologies, guide therapeutic decisions, and ultimately identify novel therapeutic targets. In fact, current data suggest that genetic factors contribute to ~42% of pediatric-onset PH compared to ~12.5% of adult-onset PAH. We report a case in which the knowledge that biallelic ATP13A3 mutations are associated with malignant progression of PAH in young childhood, led us to alter our traditional treatment plan for a 21-month-old PAH patient. In this case, we elected to perform a historically high-risk Potts shunt before expected rapid deterioration. Short-term follow-up is encouraging, and the patient remains the only known surviving pediatric PAH patient with an associated biallelic ATP13A3 mutation in the literature. We speculate that an increased use of comprehensive genetic testing can aid in identifying the underlying pathobiology and the expected natural history, and guide treatment plans among PAH patients.
Competing Interests: The authors declare that there are no conflict of interests.
(© 2022 The Authors. Pulmonary Circulation published by John Wiley & Sons Ltd on behalf of Pulmonary Vascular Research Institute.)
Databáze: MEDLINE
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