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Article

Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report.

Journal of medical case reports - 29 Sept 2023

Masuda Yuki, Nagayasu Yoko, Murakami Hikaru, Nishie Ruri, Morita Natsuko, Hashida Sosuke, Daimon Atsushi, Nunode Misa, Maruoka Hiroshi, Yoo Masae, Sano Takumi, Odanaka Yutaka, Fujiwara Satoe, Fujita Daisuke, Okamoto Nobuhiko, Ohmichi Masahide

Abstract excerpt

BACKGROUND: Congenital heart disease occurs in approximately 1 in 100 cases. Although sibling occurrence is high (3-9%), the causative genes for this disease are still being elucidated. PLD1 (Phospholipase D1) is a recently discovered gene; however, few case reports have been published on it. In this report, we describe a case of triplicate fetal congenital heart disease that was diagnosed as a PDL1 mutation. Our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37770978
DOI: 10.1186/s13256-023-04149-9
PMCID: PMC10540367

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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