A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

TL;DR

A rare case report describes a child with both autosomal recessive polycystic kidney disease and noncompaction of ventricular myocardium, raising questions about a possible ciliary dysfunction link.

Contribution

This is the first reported case of noncompaction of ventricular myocardium occurring alongside autosomal recessive polycystic kidney disease.

Findings

A 5-month-old girl was diagnosed with ARPKD through genetic testing and ultrasound findings.

At 15 months, she was found to have noncompaction of ventricular myocardium with a N/C ratio of 3.27.

The coexistence of ARPKD and NVM suggests a potential link to ciliary dysfunction, though this remains unproven.

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis. Cardiovascular disorders such as noncompaction of ventricular myocardium (NVM) have not been reported with ARPKD.

A 5-month-old girl was examined after presenting with a fever and turbid urine for one day and was diagnosed as urinary tract infection. Urinary ultrasound showed multiple round, small cysts varying in size in both kidneys. Genetic testing revealed two heterozygous mutations and one exon deletion in the polycystic kidney and hepatic disease 1 gene, indicating a diagnosis of ARPKD. During hospitalization, she was found to have chronic heart failure after respiratory tract infection, with an ejection fraction of 29% and fraction shortening of 13%. When the patient was 15 months old, it was found that she had prominent trabeculations and deep intertrabecular recesses with the appearance of blood flow from the ventricular cavity into the intertrabecular recesses by echocardiography. The noncompaction myocardium was 0.716 cm and compaction myocardium was 0.221 cm (N/C = 3.27), indicating a diagnosis of NVM. Liver and kidney function remained normal during four-year follow-up.

This is the first report of NVM in a patient with ARPKD. It is unsure if the coexistence of NVM and ARPKD is a coincidence or they are different manifestations of ciliary dysfunction in the heart and kidneys.

The online version contains supplementary material available at 10.1186/s12882-024-03642-7.

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