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Abstract Background 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. Case presentation 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. Conclusions 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.

Background: 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. Case presentation: 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. Conclusions: 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. [ABSTRACT FROM AUTHOR]

Abstract Background Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemorrhagic telangiectasia (HHT2), and there’s no NVM reported to be associated with ACVRL1 mutation. Case presentation This is a rare case diagnosed as iRVNC and pulmonary hypertention with ACVRL1 mutation detected. Conclusion iRVNC in this case may be due to ACVRL1 mutation, secondary to pulmonary hypertention and right ventricular failure caused by ACVRL1 mutation, or they happened in the same case coincidently.

Background: Noncompaction of ventricular myocardium(NVM) is a rare kind of cardiomyopathy associated with genetic mutations and nongenetic factors, among which the isolated right ventricular noncompaction (iRVNC) is the most rare type. ACVRL1 is the pathogenic gene of type 2 hereditary hemorrhagic telangiectasia (HHT2), and there's no NVM reported to be associated with ACVRL1 mutation. Case presentation: This is a rare case diagnosed as iRVNC and pulmonary hypertention with ACVRL1 mutation detected. Conclusion: iRVNC in this case may be due to ACVRL1 mutation, secondary to pulmonary hypertention and right ventricular failure caused by ACVRL1 mutation, or they happened in the same case coincidently. [ABSTRACT FROM AUTHOR]

Objective To obtain induced pluripotent stem cells (iPS) and cardiac myocyte-like cells (CMs) from a patient with noncompaction of ventricular myocardium (NVM). Methods Urine cells from a 16-year-old female patient with NVM and a 24-year-old healthy male volunteer were infected with Sendai virus to obtain iPS cells, which were further induced to differentiate into iPS-CMs. Both the iPS cells and iPS-CMs were identified by immunofluorescence staining, alkaline phosphatase activity, karyotype analysis, embryoid body (EBs) formation and cell patch-clamp experiment. Whole-exome sequencing of the blood sample, iPS cells and iPS-CMs from the NVM patient was performed for genetic comparison to identify gene mutations potentially related with NVM. Results We successfully obtained urine cells, iPS cells and iPS-CMs from the NVM patient and the healthy volunteer. Immunofluorescence assay showed that the iPS cells expressed pluripotent stem cell markers Oct4, Sox2, Ssea4 and TRA-1-81. iPS cells exhibited a high alkaline phosphatase activity with a normal karyotype, and could be induced to differentiate into 3 germ layers in vitro. Immunocytochemical staining revealed that iPS-CMs expressed cardiac myocyte-specific markers TNNT2 and α-actinin. Patch-clamp experiment demonstrated the presence of functional cardiac-specific voltage-gated Na+ currents and action potentials in the iPS-CMs. Whole-exome sequencing showed similar genetic profiles between the blood samples, iPS cells and iPS-CMs of the NVM patient, and several gene mutations were found to have potential associations with NVM. Conclusion We successfully obtain iPS cells and iPS-CMs from the NVM patient, and these cells provide useful cell models for the study of NVM using iPS technology.