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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 is a cardiomyopathy that typically involves the left ventricle or both ventricles; it has often been associated with mutations in genes encoding sarcomere proteins. Little is known about isolated right ventricular noncompaction, as only a few cases have been reported. Case Report: A 30 year old G2P1 woman experienced a spontaneous fetal loss at 19 weeks and 4 days. An ultrasound examination at 19 weeks showed right ventricular and tricuspid valve abnormalities, ascites, and early hydrops. At autopsy, the right ventricular chamber was dilated with numerous prominent trabeculations and deep intrabecular recesses as well as a dysplastic tricuspid valve. Histologic examination confirmed isolated right ventricular noncompaction. Whole exome sequencing showed a likely pathogenic variant in the MYH7 gene. Conclusions: This appears to be the first report of isolated right ventricular noncompaction associated with a gene mutation as well as the first diagnosis in a fetus. [ABSTRACT FROM AUTHOR]

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.

• We introduce a novel fetal rat model of ventricular noncompaction (NVM) caused by intrauterine hyperglycemia, induced by a combination of a high-fat diet and STZ injections. • Intrauterine hyperglycemia or elevated RA can result in NVM features in embryos, accompanied by endoplasmic reticulum stress in cardiomyocytes. • An adverse intrauterine developmental environment plays a significant role in the onset of NVM. This study aims to develop a fetal rat model of ventricular noncompaction (NVM) using streptozotocin (STZ)-induced gestational hyperglycemia and compare it with a retinoic acid (RA) model. Female SD rats were categorized into STZ, RA, and normal control (NC) groups. The STZ group was given a high-fat diet pre-pregnancy and 35 mg/kg of 2% STZ postpregnancy. The RA group received a 90 mg/kg dose of RA on day 13 postpregnancy. Embryonic myocardial morphology was analyzed through HE staining, and embryonic cardiomyocyte ultrastructures were studied using electron microscopy. Diagnoses of NVM were based on a ratio of noncompact myocardium (N) to compact myocardium (C) >1.4, accompanied by thick myocardial trabeculae and a thin myocardial compaction layer. Kruskal-Wallis test determined N/C ratio differences among groups. Both STZ and RA groups displayed significant NVM characteristics. The left ventricular (LV) N/C in the STZ, RA, and NC groups were 1.983 (1.423-3.527), 1.640 (1.197-2.895), and 0.927 (0.806-1.087), respectively, with a statistically significant difference (P<0.001). The right ventricular (RV) N/C in the STZ, RA, and NC groups were 2.097 (1.364-3.081), 1.897 (1.337-2.662), and 0.869 (0.732-1.022), respectively, with a significant difference (P <0.001). Electron microscopy highlighted marked endoplasmic reticulum swelling in embryonic cardiomyocytes from both STZ and RA groups. Our model underscores the pivotal role of an adverse intrauterine developmental environment in the onset of NVM. This insight holds significant implications for future studies exploring the pathogenesis of NVM. [ABSTRACT FROM AUTHOR]

Objective To analyze and summarize the clinical data of children with myocardial densification（NVM） combined with congenital heart disease，explore the best treatment for the disease. Methods 48 children with NVM combined with congenital heart disease were collected admitted to the hospital from September 2007 to June 2017. According the treat⁃ ment plan，the 48 cases divided into 3 groups：interventional group（9 cases），surgical group（11cases）and drugs group（28 cases）. The clinical manifestations, pregnancy status, previous medical history, family history, auxiliary examination, treatment plan and prognosis of the three groups were analyzed, and the clinical efficacy of the three groups was compared.Results In the 48 cases children，43 cases had pneumonia，38 cases had heart failure，16 cases had arrhythmias，no one had thrombosis.According to the quantity of cases，the combined heart disease were ASD，pulmonary hypertension，the disease of tricuspid valve，the disease of mitral valve，PDA，VSD.In the interventional group，6 cases had no NVM，2 case got better.In the surgical group，3 cases were dead，1 case was given up，and in the live children，5 cases had no NVM.In the drugs group，1 case was dead，2 cases were given up，and in the live children ，2 cases had no NVM，9 cases had no significant changes. The improvement rate of NVM after treat⁃ ment for congenital heart disease in the interventional group and the surgical group were significantly higher than that in the drug group，the differences were statistically significant（P<0.05）. Conclusion Comparing with drugs group，the NVM of the cases of interventional group and surgical group improve obviously after treatment for congenital heart disease. [ABSTRACT FROM AUTHOR]

Objective To analyze the changes and clinical significance of T peak-T end interval (Tp-Te), corrected Tp-Te (Tp-Tec), the ratio of Tp-Te and QT interval (Tp-Te/QT), and other myocardial repolarization indexes in children with noncompaction of ventricular myocardium (NVM). Methods Thirty-four hospitalized children with NVM were enrolled in our study as NVM group while another 34 healthy children were randomly selected as the control group. We compared the heart rale measured from 12 lead surface electrocardiogram, corrected QT interval (QTc), Tp-Te, Tp-Tec, Tp-Te/QT and other indexes between the two groups. Results Five (14.7%) out of the 34 NVM children were complicated by ventricular arrhythmia (4 cases of premature ventricular contraction and one case of ventricular tachycardia). The heart rale of children in NVM group was significantly higher than those in the control group, with statistically significant difference [ (128.8 ± 21.8) times/min vs. (113.1 ± 17.5) times/min, P <0.05]. There was no significant difference in either QTo or Tp-Te between the two groups [ (404.8 ± 30.9) ms vs. (402.6 ± 21.4) ms, (76.1 ± 17.3) ms vs. (72.1 ± 13.9) ms, P>0.05]. In NVM group, Tp-Tec was prolonged and Tp-Te/QT increased significantly if compared with those indexes in the control group, with statistically significant differences (112.7 ± 26.8) ms vs. (98.6 ± 16.6) ms, (0.27 ± 0.06) vs. (0.23 ± 0.04), P < 0.05]. Conclusion The abnormalities of transmural dispersion of repolarization in children with NVM easily lead to the occurrence of ventricular arrhythmia. Because of the influence of heart rate and other factors, the predictive value of Tp-Tec and Tp-Te/QT on ventricular arrhythmia in children with NVM is higher than that of Tp-Te. [ABSTRACT FROM AUTHOR]

Congenital atresia of the left main coronary artery (LMCA) is an extremely rare cardiac anomaly, and no cases have been reported from the mainland of China. The diagnosis for the 20-month-old boy in the reported case highlights the essentiality of comprehensive diagnostic measures. To avoid a misdiagnosis, electrocardiographic and echocardiographic evidence should be vigilantly explored in young children suspected of having dilated cardiomyopathy. This is the first case report of LMCA atresia associated with noncompaction of the left ventricular myocardium. [ABSTRACT FROM AUTHOR]

Anomalous origin of the left coronary artery is a well-known cause of sudden death. Noncompaction of the ventricular myocardium is a cardiomyopathy characterized by prominent trabeculae and deep intertrabecular recesses. Both anomalies are rare. We report the case of a child with both anomalous origin of the left coronary artery from the right sinus of Valsalva and noncompaction of the left ventricular myocardium found during an evaluation for Kawasaki’s disease. [ABSTRACT FROM AUTHOR]

Abstract: Aim: We aimed to present a case with ventricular myocardial noncompaction involving both ventricles. Methods and results: Noncompaction of ventricle is a rare and unclassified congenital cardiac malformation is due to an arrest in intrauterine endomyocardial morphogenesis. We presented a ventricular myocardial noncompaction case involving both left and right ventricles. The physical examination of this case is consistent with mitral regurgitation and the echocardiographic findings are consistent with noncompaction of ventricular myocardium involving both ventricles with left ventricular systolic failure. Conclusion: Transthoracic echocardiography is a useful clinical tool for diagnosing noncompaction of both the right and left ventricular myocardium. The LVNC definition can also be utilized for RVNC, which this diagnosis has never been reported in a Turkish patient. [Copyright &y& Elsevier]

We describe a 12-year-old male with isolated noncompaction of the myocardium and associated abnormal calcification in the basal interventricular septum, and we present a review of the literature. The patient has been healthy and free of symptoms. The electrocardiogram showed abnormal Q waves in III, V1, V2, and ST elevation in V1–V3. Exercise testing demonstrated ST depression in V4 and V5. Myocardial scintigraphic examination showed a regional reduction in iodine-1,2,3-beta-methyl-iodophenylpentadecanoic acid uptake in the basal interventricular septum. Since coronary angiography demonstrated normal coronary vessels and the trabeculations were not prominent in this region, we hypothesize that coronary microcirculatory dysfunction may cause subendocardial infarction associated with calcification in the same area. [ABSTRACT FROM AUTHOR]

Noncompaction of ventricular myocardium (NCVM) is a rare congenital cardiomyopathy characterized by numerous excessively prominent trabeculations and intertrabecular recesses in the myocardium without any other cardiac structural abnormality. Transthoracic echocardiography is the imaging modality of choice for diagnosing NCVM. Although this disease commonly affects the left ventricle, the right ventricle or both ventricles can rarely be affected. We report the case of an 18-year-old male patient with NCVM involving both ventricles. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound 41:389-391, 2013 [ABSTRACT FROM AUTHOR]

Pierre-Robin sequence or syndrome (PRS) (OMIM #261800) is characterized by a small mandible (micrognathia), posterior displacement/retraction of the tongue (glossoptosis), and upper airway obstruction. It has an incidence varying from 1 in 8,500 to 1 in 30,000 births. Congenital heart defects (CHDs) occur in 20 % of the patients with PRS. Ventricular septal defect, patent ductus arteriosus, and atrial septal defects are the most common lesions. Noncompaction of the ventricular myocardium is a rare cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. It is thought to be caused by arrest of the normal endomyocardial morphogenesis. Isolated left ventricular noncompaction (LVNC) in patients with PRS has not been reported previously. This report describes a newborn with PRS and isolated LVNC. Previously, LVNC has been reported in association with mitochondrial disorders, Barth syndrome hypertrophic cardiomyopathy, zaspopathy, muscular dystrophy type 1, 1p36 deletion, Turner syndrome, Ohtahara syndrome, distal 5q deletion, mosaic trisomy 22, trisomy 13, DiGeorge syndrome, and 1q43 deletion with decreasing frequency. Karyotype analysis of the reported patient showed normal chromosomes (46, XX), and a fluorescent in situ hybridization study did not show chromosome 22q11.2 deletion. This is the first clinical report of a patient with isolated LVNC and PRS. Noncompaction of the ventricular myocardium is a rare and unique disorder with characteristic morphologic features that can be identified by echocardiography. Long-term follow-up evaluation for development of progressive LV dysfunction and cardiac arrhythmias is indicated for these patients. [ABSTRACT FROM AUTHOR]