Infantile Type Research Articles

Clinical characteristics and prognosis of children with ventricular noncompaction

Objective To investigate the clinical features and prognosis in ventricular noncompaction children. Methods Thirty-four cases who diagnosed with ventricular noncompaction were included in this study in Shengjing Hospital of China Medical University from January 2012 to May 2018.According to age, the children were divided into infantile type(age <1 year old) and juvenile type(age ≥1 year old). We analyzed the clinical features, laboratory tests and prognosis. Results The average age at diagnosis was 3 years and 2 months.The sex ratio was 2.4∶1.Of these, 32 cases were left ventricular noncompaction, 1 was right ventricular noncompaction, and 1 was biventricular noncompaction.There were no statistically significant differences in family history, arrhythmia, and thrombotic events between infantile type and juvenile type.Heart failure was the first reason for most children, while older children often presented with fatigue when at diagnosis.More than half of them showed significant left ventricular ejection fraction(LVEF) decreasing, and non-compacted layer to compacted layer(N/C) ratio showed negative correlation with LVEF(r=-0.74, P<0.001). Sixty-five percent(22/34) of the patients presented abnormal electrocardiogram.During the follow-up, one patient died of pulmonary embolism.No significant LVEF improvement was found in 35%(12/34) of the patient.The COX proportional hazards model showed that N/C ratio was an independent risk factor for poor prognosis of ventricular noncompaction(OR=14.46, 95%CI 1.712-120.234, P<0.05). Conclusion Children with ventricular noncompaction showed different clinical features and prognosis.Early diagnosis, treatment and long term follow up are key issues for the prognosis. Key words: Ventricular noncompaction; Heart failure; Prognosis

Desmoplastic non-infantile astrocytoma/ganglioglioma: rare low-grade tumor with frequent BRAF V600E mutation

Desmoplastic infantile astrocytoma/ganglioglioma (DIA/DIG) are rare primary glioneuronal tumors that comprise 0.5% to 1.0% of all intracranial tumors. While BRAF mutation is found in up to 50% of pediatric gangliogliomas, data for DIA/DIGs is limited. This study was carried out to evaluate the frequency of BRAF V600E mutation in DIA/DIG. All cases of DIA/DIGs diagnosed over 7 years (2010-2016) were reviewed retrospectively. The clinical, radiological and histopathological characteristics of these patients were evaluated along with immunohistochemical analysis for glial and neuronal markers. We evaluated presence of BRAF V600E mutation by Sanger sequencing and immunohistochemistry using monoclonal antibody against clone VE1. Eight cases of desmoplastic infantile astrocytoma/ganglioglioma (6 DIGs and 2 DIAs) were evaluated. Four cases were of infantile type (age 10 months-2 years) and 4 cases of non-infantile type (age 10-14 years). BRAF VE1 immunohistochemistry (IHC) was positive in four cases (two DIG and two DIA). All these four cases also showed heterozygous BRAF V600E mutation (T replaced by A at nucleotide position 1799). Sequencing didn't detect BRAF mutation in any additional case. All four cases harboring this mutation were non-infantile (10-14 years). Cases with infantile presentation didn't carry this mutation. None of the cases showed recurrence on follow-up. Thus BRAF V600E mutation is common in desmoplastic non-infantile astrocytoma/ganglioglioma, but does not affect the prognosis. Identification of BRAF status opens the possibility of targeted therapies for the subset of cases that clinically progress post-resection.

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.

Variants in the neuronal sodium channel gene SCN8A have been implicated in several neurological disorders. Early infantile epileptic encephalopathy type 13 results from de novo gain‐of‐function mutations that alter the biophysical properties of the channel. Complete loss‐of‐function variants of SCN8A have been identified in cases of isolated intellectual disability. We now report a novel heterozygous SCN8A variant, p.Pro1719Arg, in a small pedigree with five family members affected with autosomal dominant upper limb isolated myoclonus without seizures or cognitive impairment. Functional analysis of the p.Pro1719Arg variant in transfected neuron‐derived cells demonstrated greatly reduced Nav1.6 channel activity without altered gating properties. Hypomorphic alleles of Scn8a in the mouse are known to result in similar movement disorders. This study expands the phenotypic and functional spectrum of SCN8A variants to include inherited nonepileptic isolated myoclonus. SCN8A can be considered as a candidate gene for isolated movement disorders without seizures.

Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report

Introduction: Vanishing white matter disease (VWM) is considered as one of the most frequent types of inherited childhood leukoencephalopathies. Various neurological and non-neurological manifestations have been reported in this type of leukodystrophy; however, seizures are rarely described in infantile type of VWM. Case Presentation: To patient is a 12 months old boy who experienced frequent seizures at 4th month of age. The seizures were resistant to anti-epileptic drugs and caused 3 periods of hospitalization. Magnetic resonance imaging (MRI) demonstrated demyelinating pattern and whole exome sequencing (WES) reported homozygous mutation (c.922G > A) in EIF2B2 gene in exon 8 leading to an amino-acid substitution (p.Val308Met). Conclusions: Infantile onset of vanishing white matter disease can be considered as one of few childhood leukodystrophies that are associated with early onset seizures.

Critical roles of αII spectrin in brain development and epileptic encephalopathy

The nonerythrocytic α-spectrin-1 (SPTAN1) gene encodes the cytoskeletal protein αII spectrin. Mutations in SPTAN1 cause early infantile epileptic encephalopathy type 5 (EIEE5); however, the role of αII spectrin in neurodevelopment and EIEE5 pathogenesis is unknown. Prior work suggests that αII spectrin is absent in the axon initial segment (AIS) and contributes to a diffusion barrier in the distal axon. Here, we have shown that αII spectrin is expressed ubiquitously in rodent and human somatodendritic and axonal domains. CRISPR-mediated deletion of Sptan1 in embryonic rat forebrain by in utero electroporation caused altered dendritic and axonal development, loss of the AIS, and decreased inhibitory innervation. Overexpression of human EIEE5 mutant SPTAN1 in embryonic rat forebrain and mouse hippocampal neurons led to similar developmental defects that were also observed in EIEE5 patient-derived neurons. Additionally, patient-derived neurons displayed aggregation of spectrin complexes. Taken together, these findings implicate αII spectrin in critical aspects of dendritic and axonal development and synaptogenesis, and support a dominant-negative mechanism of SPTAN1 mutations in EIEE5.

Are There Neurological Symptoms in Type 1 of Gaucher Disease?

Gaucher disease (GD) is a rare inborn error of metabolism, classified as a lipid storage disorders. This disease is caused by a deficiency in glucocerebrosidase enzyme. It has been classified according to the presence or absence of neurological symptoms into the following types: type 1 non-neuropathic, type 2 acute infantile neuropathic and type 3 or chronic neuropathic. We evaluated neurological symptoms in patients with GD1 and GD3 and compared both of these groups. Eleven patients were identified according to their clinical presentation and the presence of disease confirmed by genetic testing, from 2006-2016, at the Mofid Children Hospital Clinic, Tehran, Iran. We included eight patients with GD 1 and three patients with GD3. Careful neurological examination was performed on these patients during treatment by pediatric neurologist. Patients with GD1 had some neurological symptoms including cognitive impairment, developmental disability, behavioral disorder, microcephaly and increased deep tendon reflexes (DTR). Of course, neurological signs in patients with type 3 of GD were different and were included seizures, supranuclear gaze palsy, cerebellar signs, and ataxia. The current nomenclature for 3 types of Gaucher disease does not meet all clinical symptoms. Patients with GD1 display many neurological deficits in young ages not reported adequately earlier.

Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency.

Deleterious mutations in cytosolic leucine-tRNA synthetase (LARS) cause infantile liver failure syndrome, type 1 (ILFS1), a recently recognized, rare autosomal recessive disorder (OMIM151350). Only six families with ILFS1 have been reported in the literature. Patients with ILFS1 are typically diagnosed between 5 and 24months of age with failure to thrive, developmental delays, encephalopathy, microcytic anemia, and chronic liver dysfunction with recurrent exacerbations following childhood illnesses. Neonatal manifestations of this disorder have not been well documented. We report a premature female newborn with intrauterine growth restriction, failure to thrive, congenital anemia, anasarca, and fulminant liver failure leading to lethal multiple organ failure. Liver failure in this infant was characterized by a disproportionate impairment of liver synthetic function, including severe coagulopathy and hypoalbuminemia without significant defects in liver detoxification or evidence of hepatocellular injury during early phase of the disease. Whole-exome sequencing of child-parent trio identified two inherited missense mutations in LARS in this patient. One, c.1292T>A; p.Val431Asp, has been reported in patients with ILFS1, while the other, c.725C>T; p.Pro242Leu, is novel. Both mutations involve amino acid residues in the highly conserved editing domain of LARS, are predicted to be functionally deleterious, and presumably contribute to the clinical manifestations in this patient. This is the first case documenting neonatal manifestation of ILFS1, highlighting early, severe, and disproportionate defects in liver synthetic function. Timely diagnosis of ILFS1 is crucial to guide critical clinical management and improve outcomes of this rare and potentially life-threatening disorder.

LATE INFANTILE TYPE OF METACHROMATIC LEUKODYSTROPHY CAUSED BY NOVEL COMBINATION OF HETEROZYGOUS ARSA MUTATIONS.

LATE INFANTILE TYPE OF METACHROMATIC LEUKODYSTROPHY CAUSED BY NOVEL COMBINATION OF HETEROZYGOUS ARSA MUTATIONS.

Dyke-Davidoff-Masson syndrome: A case report

A 7 years girl presented with seizures, intellectual disability, right sided spastic cerebral palsy, and strabismus of right eye. Magnetic resonance imaging (MRI) brain was suggestive of severe volume loss of brain parenchyma with dilatation of ipsilateral lateral ventricle, and other MRI features diagnostic of infantile type Dyke-Davidoff-Masson syndrome also termed as cerebral hemiatrophy. Seizures can be refractory to medical treatment and surgical treatment may become necessary. Greater awareness about the disease is required to diagnose the condition timely and refer to neurosurgery in the case of refractory seizures as hemispherectomy is thetreatment of choice with high success rate.

Late Infantile Neuronal Ceroid Lipofuscinosis in a Filipino Child with Epilepsy and Progressive Neurodegeneration

The neuronal ceroid lipofuscinoses correspond to a group of disorders characterized by neurodegeneration and intracellular buildup of auto-flourescent lipopigment (ceroid lipofuscin). They are classified by age of onset into infantile, late infantile, juvenile and adult forms. Among these, the late infantile type is caused by mutations in tripeptidyl peptidase 1 (TPP1) gene and is characterized by age of onset between 2-4 years, seizures, early progressive cognitive impairment and visual loss. Our patient is a 4-year-old girl who presented at 2 years and 10 months old with seizures followed by ataxia, regression of skills and eventual visual decline. TPP1 enzyme activity was below normal for age. This report aims to increase the awareness of physicians on the cluster of symptoms characteristic of this disorder which will help facilitate early diagnosis and prompt institution of appropriate management.

AB121. Late infantile neuronal ceroid lipofuscinosis in a Filipino child presenting with epilepsy and progressive neurodegeneration

Background: Neuronal ceroid lipofuscinosis is a group of disorders characterized by neurodegeneration and intracellular built up of auto-fluorescent lipopigment (ceroid lipofuscin). They are classified by age of onset into infantile, late infantile, juvenile, and adult forms. Among these, the classic late infantile type is caused by mutations in the tripeptidyl peptidase 1 (TPP1) gene and is characterized by age of onset between 2–4 years, seizures, early progressive cognitive impairment, and visual loss.

RESULTS CHILD ORTHODONTIC REHABILITATION WITH CHRONIC OSTEOMYELITIS MAXILLA HISTORY OF

Chronic osteomyelitis in children poorly understood disease. Moreover, insufficient data on patients’ rehabilitation, it underwent. Chronic osteomyelitis is more common in the age of 8-10 years, the more interesting the clinical case of rehabilitation of the child who has had chronic osteomyelitis of the upper jaw to the right at the age of 4 years. In most cases chronic form of osteomyelitis in children occur соmplex dentoalveolar deformations, facial aesthetics violation. To eliminate the disease apply complex orthodontic and surgical interventions, dentures. We explored the possibility of forming a physiological ratio dentoalveolar arches using orthodontic rehabilitation of a child who has had chronic osteomyelitis at an early age. Monitoring and treatment of the patient was carried out at the age of 4-15 years. In the treatment of used removable orthodontic appliances replacement dentition defect, non-removable orthodontic appliances, orthopedic extraoral traction. For the control treatment and the results of the analysis were used different types of X-ray examination: a panoramic picture, computed tomography, as well as calculations of models of the jaws and face and smile detection photometry. During treatment persists infantile type was eliminated, to form a neutral type of jaw relations, create conditions for the eruption of permanent teeth on the modified disease right half of the upper jaw. A detailed analysis of the results showed that the effectiveness of orthodontic treatment depend on its early start, the sequence and scope of the orthodontic treatment, care, timeliness, as well as the activity of a doctor and patient cooperation.

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV

The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD IV). We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease type IV with extensive involvement of skeletal muscle, heart, and liver. The diagnosis was confirmed by molecular genetic testing. We could only find 1 prior report in the English literature that describes placental pathological changes. Our findings suggest that placental examination can be a useful adjunct for early diagnosis, as placentas are often received for pathological examination shortly after birth and usually before a diagnostic muscle biopsy can be performed. Pathologists need to be aware of characteristic placental features.

Outcomes from anomalous origin of the left coronary artery from the pulmonary artery repair: Long-term complications in relation to residual myocardial abnormalities

BackgroundAnomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary artery irregularity. This study aimed to clarify the long-term postoperative outcomes in ALCAPA patients, and to compare the infantile and adult types. MethodsWe retrospectively analyzed the clinical data from 33 patients with ALCAPA who underwent surgical repairs after 1980. The patients were grouped based on whether presentation occurred before (infantile type: n=14) or after (adult type: n=19) 1 year of age. ResultsThe mean follow-up duration was 16 years. Preoperatively, the infantile type had greater impairment of the left ventricle ejection fraction (LVEF) (45±15%) compared with the adult type (59±10%) (p<0.01). Coronary revascularization significantly improved the postoperative LVEF (67±5%) (p<0.01) in the patients with the infantile type. The postoperative LVEF did not change in the adult type. The mitral regurgitation (MR) severity improved postoperatively, but the between-group difference was not significant. Postoperatively, none of the patients with the infantile type and 37% of the patients with the adult type had left ventricular asynergy (p=0.01), and both groups showed postoperative perfusion defects (79% vs 95%, p=0.29). Compared with the infantile type, the adult type had a significant prognostic value for composite cardiovascular events that comprised cardiac death, arrhythmias, MR deterioration, and hospitalization as a consequence of heart failure (p=0.04). ConclusionsMost patients showed favorable clinical outcomes postoperatively, but myocardial damage remained long after surgery and cardiovascular events occurred postoperatively. Hence, meticulous long-term follow-up is warranted.

Scanning and analysis of the KATP channel mutations in 12 cases of infancy onset type 1 diabetes mellitus

Objective To screen the mutation of KATP channel mutations in Chinese pedigrees with infantile onset type 1 diabetes mellitus(T1DM) and neonatal diabetes mellitus. Methods A cohort of 12 children of infant onset T1DM and neonatal diabetes mellitus admitted into Beijing Children's Hospital between March 2004 and June 2013 were selected.PCR amplification and direct sequencing were used to analyze the 39 exons of ABCC8 gene and one exon of KCNJ11.And the mutational sites of the parents of the probands was sequenced in order to identify the inheritance. Results Analysis revealed ABCC8 mutation in 25%(3/12 cases) of the patients, a case of transient neonatal diabetes(TNDM), a case of permanent neonatal diabetes mellitus(PNDM) and a case of infant onset T1DM.All positive patients showed a known heterozygosis mutation in the ABCC8 gene(R1182Q, c.3545G>A, D209E, c.627C>G, E208K c. 622G>A). The residue R1182Q, which was located at a position involved in joining transmembrane domain 2 to nucleotide binding domain 2, the mutations E208K and D209E were located in the intracellular region that links the transmembrane domain with the gatekeeper module.All the three mutations were located throughout the cytoplasm part of SUR1 protein.The TNDM successfully transferred from insulin to oral sulfonylureas therapy. Conclusions There is a complex genetic pathogenesis in neonatal and infant-onset diabetes.The KATP channel activating mutations is one of the main causes of neonatal diabetes mellitus and may cause T1DM in infants in China.Oral Glibenclamide therapy seems highly effective for some patients with the KATP channel activating mutations. Key words: KATP channel; Infancy onset type 1 diabetes mellitus; Neonatal diabetes mellitus; Glibenclamide

High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.

The present study was designed to explore mutations of NPHP2 and NPHP3 and clinical features in 18 Chinese infantile nephronophthisis (NPHP) patients. Patients were subjected to screen for mutations in both NPHP2 and NPHP3, and clinical data were collected. Eighteen patients from 17 families were included in this study. Eight of 17 (47.1%) patients detected were identified to have mutations in NPHP3, but none had a mutation in NPHP2. Of the patients with NPHP3 mutations, four had compound heterozygous mutations, and the other four harboured single heterozygous mutations. Ten of the NPHP3 mutations were novel. Low molecular weight proteinuria was observed in all 16 detected patients. Renal histology were available in seven children, five patients showed infantile type NPHP features, and the other two patients from the same family showed juvenile type NPHP features. Liver involvement was observed in all patients with NPHP3 mutations and congenital heart disease in two patients harbouring NPHP3 mutation of c.2369 T > C (p.L790P). In this group of infantile NPHP patients, mutations of NPHP3 were prevalent, whereas mutation of NPHP2 was absent. Genotype to phenotype correlations were observed in patients with NPHP3 mutations and all patients with NPHP3 mutations showed renal-hepatic phenotype.

Gaucher Disease With Respiratuar Distress: A Case Report

Gaucher disease is an autosomal recessive , lysosomal sto- rage disease, characterized by glycosylcerebroside depositi- on in reticulo-endothelial system cells, due to deficiency of lysosomal glucocerebrosidase. Glucocerebroside accumula- ted in lysosomes of monocytes and macrophages frequently infiltrates many organs such as the bone marrow, lymph nodes, liver and spleen and causes multisystemic symptoms. In Gaucher disease, according to neurological involvement and the progression of neurological disease there are 3 subt- ypes. Type 1 adult form where there is no neurological invol- vement, Type 2, infantile or acute neuropathic and Type 3, subacute juvenile neuropathic type. Curative treatment of rarely seen Gaucher disease has been revived with advance- ments in enzyme and gene therapy, and it has been reviewed together with this case detected in our clinic

Infantile spasms in early-onset Niemann–Pick disease with a novel compound heterozygous mutations in SMPD1 gene

Niemann–Pick diseases are a group of rare autosomal recessive disorders caused by an inherited deficiency of lysosomal storage with similar clinical presentations. At least three different Niemann–Pick (NP) diseases have been described, with NPA and NPB occurring as a result of a deficiency of the acid sphingomyelinase (ASM) enzyme, while NPC as a disorder that cause misregulation in cholesterol and lipids turnover, causing their accumulation in various tissues, including brain. The resulting phenotypic spectrum ranges from a severe infantile type with neurologic degeneration and death, usually by 3 years of age (NPA), to a non-neurologic adult onset form compatible with survival into adulthood (NPB) and a neurovisceral disorder with symptoms that occur at different times and progress independently (NPC).Here, we report on an Italian child born from non-consanguineous healthy parents, with a negative family history, who developed infantile spasms at the age of 5 months and clinical signs of potential storage disease. The genetic screening, performed by means of whole exome sequencing, revealed compound heterozygous mutations in the Sphingomyelin Phosphodiesterase 1 gene (SMPD1), comprising both a homozygous polymorphism (p.V36A) in exon 1 and a new frameshift heterozygous deletion (c.1187delT) in exon 3 generating a premature stop (TAA) at codon 424 (p.L395fsX29).This result appears to corroborate the phenotypic heterogeneity of the symptoms and suggests a correlation between the presence of a truncated SMPD1 polypeptide and the very early onset of the disease.Focal points•Benchside: The comprehension of genotype–phenotype correlations in patients affected by Niemann–Pick disease will accelerate the accuracy of the diagnosis and permit to ameliorate patient follow-up.•Bedside: The coexistence of a homozygous polymorphism and of a new heterozygous frameshift deletion in exon 3 of the SMPD1 gene reveals the presence of infantile spasms, not previously related to mutations in SMPD1 gene. Elucidating the mechanisms associated to this altered gene product could open novel approaches in therapy.

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% of patients have recurrent mutations in residues Arg1617 or Arg1872. Our goal was to determine the functional effects of these mutations on channel properties. Clinical exome sequencing was carried out on patients with early-onset seizures, developmental delay, and cognitive impairment. Two mutations identified here, p.Arg1872Leu and p.Arg1872Gln, and two previously identified mutations, p.Arg1872Trp and p.Arg1617Gln, were introduced into Nav1.6 cDNA, and effects on electrophysiological properties were characterized in transfected ND7/23 cells. Interactions with FGF14, G-protein subunit Gβγ, and sodium channel subunit β1 were assessed by coimmunoprecipitation. We identified two patients with the novel mutation p.Arg1872Leu and one patient with the recurrent mutation p.Arg1872Gln. The three mutations of Arg1872 and the mutation of Arg1617 all impaired the sodium channel transition from open state to inactivated state, resulting in channel hyperactivity. Other observed abnormalities contributing to elevated channel activity were increased persistent current, increased peak current density, hyperpolarizing shift in voltage dependence of activation, and depolarizing shift in steady-state inactivation. Protein interactions were not affected. Recurrent mutations at Arg1617 and Arg1872 lead to elevated Nav1.6 channel activity by impairing channel inactivation. Channel hyperactivity is the major pathogenic mechanism for gain-of-function mutations of SCN8A. EIEE13 differs mechanistically from Dravet syndrome, which is caused by loss-of-function mutations of SCN1A. This distinction has important consequences for selection of antiepileptic drugs and the development of gene- and mutation-specific treatments.

Abstract 13879: Clinical Features and Prognosis of Patients With Left Ventricular Noncompaction Cardiomyopathy: A Comparison Between Infantile and Juvenile Types

Introduction: Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by a left ventricle with a prominent trabecular meshwork. Long-term prognosis of LVNC has not been elucidated yet. Purpose: The aim of this study is to clarify the difference between infantile and juvenile cases and identify the risk factor of poor prognosis of LVNC in the largest series to date. Methods: Based on nationwide surveys of LVNC in Japanese children, we compared the clinical features and anatomical properties of infantile cases of LVNC (&lt; 2 years: 85 cases) with that of juvenile cases (2-15 years: 73 cases). In addition to the standard noncompacted to compacted layer (N/C) ratio, we developed an echocardiographic criteria which represents an average of N/C ratios in five wall segments to estimate the severity of LVNC. Results: The duration of follow-up ranged from 15 days to 22 years (median 5 years). Although most patients in the infantile group had clinical signs of heart failure at initial presentation (70.1%), the majority of juvenile cases were asymptomatic and identified when screened for cardiac abnormalities, such as ECG screening (55.8%). WPW syndrome was higher in both groups (infantile group: 9.7%, juvenile group: 10.0%), the incidence of LBBB and VT was lower than those reported in adults. On echocardiography, the maximum N/C ratio was observed at the apex in both groups. Neither noncompaction score nor N/C score was significantly different between groups. Left ventricular ejection fraction (LVEF) at initial presentation was significantly lower in the infantile group than in the juvenile group. Although survival analysis showed poor prognosis in the infantile group, the significant risk factor was LVEF below 50% (p = 0.0004, hazard ratio = 9.0), rather than age of onset. Conclusions: LVNC in both infantile and juvenile groups showed poor prognosis when correlated with depressed LVEF at initial presentation.