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11 September 2023 : Case report  Indonesia

[In Press] Case Report: 5 Cases of Variant Hypoplastic Left Heart Syndrome Diagnosed on Prenatal Fetal Ultrasound

Challenging differential diagnosis, Congenital defects / diseases

Adhi Pribadi ORCID logo1ABCDEF, Amillia Siddiq1BCD, Annisa Dewi Nugrahani ORCID logo1AEF, Dhanny Primantara Johari Santoso ORCID logo1EF

DOI: 10.12659/AJCR.940871

Am J Case Rep In Press; DOI: 10.12659/AJCR.940871  

Available online: 2023-09-11, In Press, Corrected Proof

Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule


Hypoplastic left heart syndrome (HLHS) is a complex left-sided obstructive congenital cardiac condition with several variants. This report is of 5 cases with varying morphology of HLHS diagnosed by fetal prenatal ultrasound at the 4-chamber view (4CV) level.
Five cases were referred by obstetrics and gynecology specialists with preliminary information on visible congenital abnormalities in the third trimester. Fetal echocardiography showed that several morphological variants of HLHS were found. The patient in the first case had the most frequently found variant; this variation is usually linked to mitral valve stenosis (MVS). The second case had the characteristic of mitral valve atresia (MVA), and as a consequence, blood flow was not visible in this variant and the left ventricle (LV) was not clear or not adequately visualized by ultrasound. In the third case, the patient suffered from severe MVS and perhaps a small aorta. Uni-atrial conditions were described in the third case. In the fourth case, the patient had a narrow LV, MVA, ventricular septal defect, nearly united atrium, and tricuspid regurgitation. The fifth case was a case of HLHS with congenital diaphragmatic hernia. Further, 4 out of 5 of the cases were associated with widening of the cisterna magna and Dandy Walker syndrome-associated posterior fossa disorder malformations. The overall maternal age was over 35 years old in 4 cases. Karyotyping examination was not performed in all cases.
The role of ultrasound is very important in determining the diagnosis and the degree of development of hypoplastic LV. However, visualization at the 4CV level can detect abnormalities found in the LV.

Keywords: Aortic Valve Disease; Hypoplastic Left Heart Syndrome; Mitral Valve Insufficiency; Mitral Valve Stenosis; Calcification of Aortic Valve

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923