Features include always present findings: Abdominal situs inversus, Hypoplastic left heart, and Ventricular septal defect; and common findings: Aortopulmonary collateral arteries, Atrial situs ambiguous, Dextrocardia, and Atrial situs inversus and others.

PKD1L1 function has not been fully characterized.

Heterotaxy, visceral, 8, autosomal is associated with mutations in the PKD1L1 gene on chromosome 7.

Genetic testing for PKD1L1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 always present features, 9 common features.

No clinical trials have been registered for heterotaxy, visceral, 8, autosomal.

6 publications have been identified in PubMed for heterotaxy, visceral, 8, autosomal. Research spans Epidemiology / Natural History (50%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (17%).

Recent Publications

• Wang MY (2026). [PMID: 41824087](https://pubmed.ncbi.nlm.nih.gov/41824087/). *Brain Struct Funct*. [Basic Science / Preclinical]

• Yi W (2025). [PMID: 40670315](https://pubmed.ncbi.nlm.nih.gov/40670315/). *Prenat Diagn*. [Epidemiology / Natural History]

• Al-Korashy M (2025). [PMID: 39513328](https://pubmed.ncbi.nlm.nih.gov/39513328/). *Clin Genet*. [Epidemiology / Natural History]

• Xie XH (2025). [PMID: 40467998](https://pubmed.ncbi.nlm.nih.gov/40467998/). *J Hum Genet*. [Epidemiology / Natural History]

• Szenker-Ravi E (2025). [PMID: 39753129](https://pubmed.ncbi.nlm.nih.gov/39753129/). *Am J Hum Genet*. [Basic Science / Preclinical]