Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review.

ABSTRACT:

Background

Pediatric pulmonary hypertension (PH) is a serious and rare disease that is often derived from genetic mutations. Kabuki syndrome (KS) is a chromosomal abnormality disease that has its origin in the mutation of lysine methyltransferase 2D(KMT2D). Recent evidence has shown that KMT2D mutations are associated with pediatric pulmonary disorders. However, the relationship between the clinical courses of PH and the KMT2D mutation is reported in extremely few cases. Therefore, in this paper, a case was presented and previous literature was reviewed for better understanding of the correlation between pediatric PH and KMT2D mutations.

Case presentation

A 3-year-old girl was transferred to our center for severe cough, shortness of breath, fatigue and fever. Physical examin

SUBMITTER: Deng XX 

PROVIDER: S-EPMC10463411 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature