KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.
Anticonvulsants ; Atrial Septum ; Developmental Disabilities ; Early Diagnosis* ; Electroencephalography ; Exome* ; Hearing Loss ; Heart Septal Defects, Ventricular ; Humans ; Hypertelorism ; Infant ; Intellectual Disability ; Language Development Disorders ; Male ; Neurodevelopmental Disorders ; Neurologic Manifestations ; Phenotype ; Seizures

PURPOSE: To report a case of migraine attacks with aura that occurred after percutaneous closure of an atrial septal defect (ASD) with the Amplatzer septal occluder device. CASE SUMMARY: A 58-year-old female presented with glare and scintillation that lasted 3 days. She had a history of percutaneous ASD intervention 3 weeks prior. Because ophthalmologic examination revealed nothing remarkable, the patient underwent observation. However, two months later, she revisited our department, presenting with aggravated glare, scintillation, and severe photophobia. Also, she presented with scintillation followed by a headache starting from the right temporal area extending to the occipital area. The patient was diagnosed with migraine with aura, which was newly developed after percutaneous ASD closure. After switching medication from acetylsalicylic acid to clopidogrel, the frequency and intensity of the headaches were reduced. No recurrence of ophthalmic symptoms or headache was observed during the 1-year follow-up. CONCLUSIONS: Percutaneous closure of ASD can be complicated by the appearance of migraine attacks with aura. When patients present with glare and scintillation, ophthalmologists must consider the possibility of migraine with aura and migraine induced by secondary causes. Thus, detailed history taking should be taken in order to make an early diagnosis of migraine.
Aspirin ; Early Diagnosis ; Epilepsy ; Female ; Follow-Up Studies ; Glare ; Headache ; Heart Septal Defects, Atrial* ; Humans ; Middle Aged ; Migraine Disorders* ; Migraine with Aura* ; Photophobia ; Recurrence ; Septal Occluder Device

PURPOSE: We evaluated the hemodynamic statuses of patients after partial closure of atrial septal defects with fenestration due to pulmonary hypertension. MATERIALS AND METHODS: Seventeen adult patients underwent partial atrial septal defect closure and follow-up cardiac catheterization. We analyzed hemodynamic data and clinical parameters before and after closure. RESULTS: The median age at closure was 29 years old. The baseline Qp/Qs was 1.9+/-0.6. The median interval from the operation to the cardiac catheterization was 27 months. The CT ratio decreased from 0.55+/-0.07 to 0.48+/-0.06 (p<0.05). The mean pulmonary arterial pressure decreased from 50.0+/-11.5 mm Hg to 32.5+/-14.4 mm Hg (p<0.05), and the pulmonary resistance index decreased from 9.2+/-3.6 Wood units*m2 to 6.3+/-3.8 Wood units*m2 (p<0.05). Eleven patients (64.7%) continued to exhibit high pulmonary resistance (over 3.0 Wood units*m2) after closure. These patients had significantly higher pulmonary resistance indices and mean pulmonary arterial pressures based on oxygen testing before the partial closures (p<0.05). However, no significant predictors of post-closure pulmonary hypertension were identified. CONCLUSION: Despite improvement in symptoms and hemodynamics after partial closure of an atrial septal defect, pulmonary hypertension should be monitored carefully.
Adult ; Aged ; Cardiac Catheterization/*adverse effects ; Female ; Follow-Up Studies ; Heart Defects, Congenital/epidemiology/*physiopathology/*surgery ; Heart Septal Defects, Atrial/surgery ; Hemodynamics/*physiology ; Humans ; Hypertension, Pulmonary/diagnosis/epidemiology/*physiopathology ; Male ; Middle Aged ; Oxygen ; Postoperative Complications/diagnosis/epidemiology/*physiopathology ; Retrospective Studies ; Treatment Outcome ; Young Adult

A 20-year-old female had undergone definitive surgical repair for pulmonary atresia with intact ventricular septum soon after birth. She was referred to our institution with the chief complaint of clubbing fingers. A thorough examination revealed platypnea-orthodeoxia syndrome due to an interatrial right-to-left shunt through a secundum atrial septal defect. Percutaneous closure with an Amplatzer Septal Occluder resulted in resolution of the syndrome.
Dyspnea/*diagnosis/*etiology/surgery ; Female ; Heart Defects, Congenital/complications/*surgery ; Heart Septal Defects, Atrial/*complications/*diagnosis/surgery ; Humans ; Hypoxia ; Pulmonary Atresia/complications/*surgery ; *Septal Occluder Device ; Syndrome ; Treatment Outcome

PURPOSE: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. METHODS: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. RESULTS: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. CONCLUSION: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.
Chin ; Cryptorchidism ; Developmental Disabilities ; Diagnosis ; Ear ; Eyebrows ; Hearing Loss ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Karyotyping ; Lip ; Male ; Multiplex Polymerase Chain Reaction ; Parietal Bone

Device based closure of the left atrial appendage (LAA) has emerged as a viable approach for stroke prevention in atrial fibrillation (AF) patients with contraindications to chronic oral anticoagulation. One of the most feared complications is device related thrombus formation. We present a 66-year-old male with chronic AF who developed a life-threatening intracranial bleed on oral anti-coagulation. He subsequently underwent LAA closure using an Amplatzer muscular ventricular septal defect closure device for stroke prevention. However, he was found to have a large thrombus attached to the device a year later. We present a review of the various LAA closure devices, importance of periodic surveillance via echocardiography and management options to prevent this complication. Also, the case highlights the importance of contrast-enhance echocardiography in diagnosis of LAA closure device thrombus.
Aged ; Atrial Appendage ; Atrial Fibrillation ; Diagnosis ; Echocardiography ; Heart Septal Defects, Ventricular ; Heart* ; Humans ; Male ; Stroke ; Thrombosis

BACKGROUNDTranscatheter occlusion has been applied to treat ostium secundum atrial septal defect (OS ASD) since 1997. During the clinical practice, several postoperative complications including arrhythmia have been reported. This study aimed to evaluate the value of the ratio of atrial septal occluder (ASO) versus atrial septal length (ASL) for predicting arrhythmia occurrence after transcatheter closure in children with OS ASD.

METHODSSix hundred and fifty-one children diagnosed with OS ASD underwent occlusion procedures after completing routine examinations. The onsets and types of arrhythmia both during and after the occlusion procedures were monitored. Treatments were given based on the individual types of arrhythmia. The binary logistic regression analysis and receiver-operating characteristic (ROC) curve were used in the analysis of value of the ratio of ASO/ASL for predicting postoperative arrhythmia occurrence.

RESULTSTranscather occlusions were conducted in 651 children, among whom 7 children had different types and degrees of arrhythmia, with an incidence of 1.1%. The types of arrhythmia included sinus bradycardia, atrial premature beats, bundle branch block, and different degrees of atrioventricular block. Normal electrocardiograph findings were resumed in these 7 patients following active therapies such as corticoids, nutrition, and surgeries. The binary logistic regression and ROC analysis suggested that the ratio of ASO/ASL exhibited an intermediate predictive value for predicting arrhythmia occurrence after occlusion procedures. A cut-off value of 0.576 in the ratio provided a sensitivity of 87.5% and a specificity of 76.2% with an area under the ROC curve of 0.791 (95% confidence intervals, 0.655-0.926; P < 0.05) in predicting arrhythmia occurrence after the closure procedures.

CONCLUSIONSThe ratio of ASO/ASL might be a useful index for predicting arrhythmia occurrence after closure procedures in children with OS ASD.

Adolescent ; Arrhythmias, Cardiac ; diagnosis ; Atrial Septum ; surgery ; Cardiac Catheterization ; Child ; Child, Preschool ; Echocardiography, Transesophageal ; Female ; Heart Septal Defects, Atrial ; surgery ; Humans ; Infant ; Male ; Postoperative Complications ; diagnosis ; Septal Occluder Device

Although the favored strategy for coronary bifurcation intervention is stenting main vessel with provisional side branch (SB) stenting, we occasionally use two-stent strategy. The objective of this study was to investigate the angiographic outcome of SB ostium in two-stent group, compared with one-stent group. We analyzed 199 patients with bifurcation lesion who underwent percutaneous coronary intervention (PCI) with drug-eluting stent and follow up angiography. The patients were divided into one-stent group (167 lesions, 158 patients) and two-stent group (41 lesions, 41 patients). Prior to intervention, SB ostium minimal luminal diameter (MLD) was smaller in two-stent group than in one-stent group (1.08+/-0.55 mm vs. 1.39+/-0.60 mm; P=0.01). But, immediately after PCI, SB MLD of two-stent group became greater than that of one-stent group (2.41+/-0.40 mm vs. 1.18+/-0.68 mm; P<0.01). Six to nine months after PCI, this angiographic superiority in SB MLD of two-stent group persisted (1.56+/-0.71 mm vs. 1.13+/-0.53 mm; P<0.01), although there was larger late loss in two-stent group (0.85+/-0.74 mm vs. 0.05+/-0.57 mm; P<0.01). In terms of target lesion revascularization and target vessel revascularization rates, one-stent group showed better results than two-stent group. We could attain wider long term SB ostium after two-stent strategy than after one-stent strategy.
Aspirin/therapeutic use ; Cohort Studies ; *Coronary Angiography ; Coronary Vessels/radiography ; *Drug-Eluting Stents ; Female ; Heart/radiography ; Heart Septal Defects, Atrial/diagnosis/*radiography ; Humans ; Male ; Middle Aged ; Myocardial Revascularization/*methods ; Percutaneous Coronary Intervention/*methods ; Platelet Aggregation Inhibitors/therapeutic use ; Retrospective Studies ; Ticlopidine/analogs & derivatives/therapeutic use ; Treatment Outcome

No abstract available.
Asian Continental Ancestry Group/*genetics ; Chromosome Deletion ; Chromosome Disorders/complications/*diagnosis ; Chromosomes, Human, Pair 18 ; Cyanosis/*etiology ; Female ; Heart Septal Defects, Atrial/complications/*diagnosis ; Humans ; Infant ; Karyotyping ; Republic of Korea

Umbilical vein varix has diverse clinical features and an unpredictable course during the pregnancy and/or perinatal period. We report a rare case of isolated fetal varix of the intra-abdominal umbilical vein, which was associated with fetal cardiomegaly. After birth, the umbilical vein varix remained with continuous blood flow through the patent ductus venosus. In addition, persistent cardiomegaly was complicated with an atrial septal defect.
Cardiomegaly ; Heart Septal Defects, Atrial* ; Parturition ; Pregnancy ; Prenatal Diagnosis ; Umbilical Veins* ; Varicose Veins*