Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report.
Yuki MasudaYoko NagayasuHikaru MurakamiRuri NishieNatsuko MoritaSosuke HashidaAtsushi DaimonMisa NunodeHiroshi MaruokaMasae YooTakumi SanoYutaka OdanakaSatoe FujiwaraDaisuke FujitaNobuhiko OkamotoMasahide OhmichiPublished in: Journal of medical case reports (2023)
This report is consistent with previous reports that mutations in PLD1 cause right ventricular valve dysplasia. However, there have been few case reports of PLD1 mutations, and we hope that this report will contribute to elucidate the causes of congenital heart disease, especially right ventricular valve dysplasia, and that the accumulation of such information will provide more detailed information on PLD1 mutations in heart disease.