• Journal of Chest Surgery
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• v.12 no.2
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• pp.113-118
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• 1979

The muscular variety of congenital ventricular septal defect [Type IV VSD] comprises from 2 to 18% of the total number of patients and has multiple defects. It is difficult to diagnose by usual angiographic study. Out of 116 cases of isolated ventricular septal defects repaired at this hospital in 20 years period from 1959 and to May 8, 1979, 2 cases had muscular defect which was treated through vertical right ventriculotomy without any problems. Single defect was found in both cases and in one case PDA was associated with Type IV VSD.

• Journal of Chest Surgery
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• v.32 no.10
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• pp.966-969
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• 1999

Congenital defects of the sternum are rare development anomalies. They result form the failure of the lateral sternal bars to fuse. This malformation may be associated with other ventral midline fusion defects and ectopia cordis. A complete sternal cleft is the rarest form and less than 10 cases have been reported in the medical literature. Here were report a 3-day-old boy with complete sternal cleft without other malformations, who underwent primary surgical repair. Surgical correction of complete sternal cleft should be performed in neonatal period whether the infant if symptomatic or not because it is usually simple, able to achieve good result and primary repair is usually feasible at this period.

• Clinical and Experimental Pediatrics
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• v.53 no.6
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• pp.718-721
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• 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the $CREB$ $binding$ $protein$ ($CREBBP$) have been found, which are understood to be associated with cell growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis.

• Journal of Animal Reproduction and Biotechnology
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• v.35 no.3
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• pp.265-267
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• 2020

The congenital head anomalies are most often used to describe defects in the eyes, mouth, nose, skull, and or brain. The faulty embryogenesis most likely found to be associated with abnormal genetic or epigenetic causes during pregnancy. Eventually it leads to congenital anomalies. Rabbit-headed Lamb (RH) is a disorder in sheep breeding that is characterized by some deformities in the head and the face. A dead -day old- crossbred white Najdi lamb with a deformed face and head was reported to be born in the current case. The external and physical examination revealed a deformed skull and facial region with a unilateral eye, fused mouth, pig-like nose, and patent skull with the brain coming out from left eye orbit. Additionally, the lamb was very skinny with unusual long extremities. This is the first report of this syndrome that describes such deformities in a stillbirth Najdi breed lamb.

• Korean Journal of Veterinary Research
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• v.56 no.3
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• pp.193-195
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• 2016

The purpose of this report is to introduce persistent left cranial vena cava (PLCVC) with persistent right aortic arch (PRAA) and patent ductus arteriosus (PDA). Case 1 was a Cocker Spaniel with PRAA and case 2 was a Maltese with PDA. PLCVC was enclosed at the sites of PRAA and PDA surgery; therefore, it was lifted dorsally during PDA and PRAA surgery. Surgery to repair congenital heart defects including PRAA and PDA is recommended for dogs that do not die of PLCVC at a young age.

• Journal of Chest Surgery
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• v.21 no.1
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• pp.48-54
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• 1988

168 cases of open heart surgery had been performed in Korea Veterans Hospital from Aug. 1984 to Nov. 1987. There were 150 cases of congenital heart disease and 18 cases of acquired heart disease. In congenital heart cases, 123 cases [82%] were acyanotic and 27 cases [18%] were cyanotic. Common congenital defects were VSD, TOF, ASD, PS in order of frequency. There were 11 cases of operative mortality; 5 cases [4%] in acyanotic group, 6 cases [22\ulcorner6] in cyanotic group. There was no mortality in valvular heart disease group. Overall mortality rate was 6.5%.

• Journal of Korean Neurosurgical Society
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• v.64 no.5
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• pp.837-842
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• 2021

An atlantoaxial subluxation from the unstable Os odontoideum by the failure of proper integrations between the embryological somites might be a commonly reported pathology. However, its suspicious origin or paralleled occurrence with other congenital anomalies of vertebral body might be a relatively rare phenomenon. The authors present two cases, who simply presented with clinical signs of prolonged, intractable cervicalgia without any neurological deficits, revealed this rare feature of C1-2 subluxation from the unstable, orthotropic type of Os odontoideum that coincide with congenitally fused cervical vertebral bodies between C2-3. Surprisingly, in one case, when traced from the lower cervical down to the thoracic-lumbar levels during the preoperative work-up process, was also compromised with multi-level butterfly vertebrae formations. Presented cases highlight the association of various congenital vertebrae anomalies and the rationale to fuse only affected joints.

• Journal of Chest Surgery
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• v.50 no.4
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• pp.242-246
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• 2017

Background: Patent ductus arteriosus (PDA) ligation is usually performed by congenital cardiac surgeons. However, due to the uneven distribution of congenital cardiac surgeons in South Korea, many institutions depend solely on adult cardiac surgeons for congenital cardiac diseases. We report the outcomes of PDA ligations performed by adult cardiac surgeons at our institution. Methods: The electronic medical records of 852 neonates at Chung-Ang University Hospital, Seoul, South Korea from November 2010 to May 2014 were reviewed to identify patients with PDA. Results: Of the 111 neonates with a diagnosis of PDA, 26 (23%) underwent PDA ligation. PDAs were ligated within 28 days of birth (mean, $14.5{\pm}7.8days$), and the mean gestational age of these patients was $30.3{\pm}4.6weeks$ (range, 26 to 40 weeks) with a mean birth weight of $1,292.5{\pm}703.5g$ (range, 480 to 3,020 g). No residual shunts through the PDA were found on postoperative echocardiography. There was 1 case of 30-day mortality (3.8%) due to pneumonia, and 6 cases of in-hospital mortality (23.1%) after 30 days, which is comparable to results from other centers with congenital cardiac surgery programs. Conclusion: Although our outcomes may not be generalizable to all hospital settings without a congenital cardiac surgery program, in select centers, PDA ligations can be performed safely by adult cardiac surgeons if no congenital cardiac surgery program is available.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.28-32
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• 2017

Lipoid congenital adrenal hyperplasia (LCAH) is the severe form of congenital adrenal hyperplasia and is characterized by adrenal insufficiency with hyperpigmentation and female external genitalia irrespective of genetic sex. The steroidogenic acute regulatory protein (StAR) is required for the transport of cholesterol into the mitochondria for steroidogenesis, and defects in the StAR gene account for the majority of LCAH cases. In this report, we present a two-day-old hyperpigmented infant with phenotypical female genitalia. With consideration of the clinical and laboratory findings, the infant was suspected of having adrenal insufficiency due to LCAH and treated with glucocorticoid, mineralocorticoid, and sodium chloride. Karyotyping revealed 46, XY. Upon pelvis ultrasonography, adrenal hyperplasia with abdominal masses (thought to be the testicles) was reported. Molecular analysis with targeted exome sequencing revealed the homozygote mutation of c.772C>T ($p.Q258^*$) in exon 7 of the StAR gene. The early detection and treatment of adrenal insufficiency in infants with hyperpigmentation can prevent clinically apparent adrenal crises. During follow-up, the patient had a good clinical condition and maintained normal electrolyte and adrenocorticotropic hormone levels with medication.

• Investigative Magnetic Resonance Imaging
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• v.19 no.4
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• pp.205-211
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• 2015

The human heart is a complex organ in which many complicated congenital defects may happen and some of them require surgical intervention. Due to the vast complexity of varied anatomical presentations, establishing an accurate and consistent nomenclature system is utmost important to facilitate effective communication among pediatric cardiologists, cardiothoracic surgeons and radiologists. The Van Praagh segmental approach to the complex congenital heart disease (CHD) was developed in the 1960s and has been used widely as the language for describing complex anatomy of CHD over the decades. It utilizes a systematic and sequential method to describe the cardiac segments and connections which in turn allows accurate, comprehensive and unambiguous description of CHD. It can also be applied to multiple imaging modalities such as echocardiogram, cardiac CT and MRI. The Van Praagh notation demonstrates a group of three letters, with each letter representative for a key embryologic region of cardiac anatomy: the atria, ventricles and great vessels. By using a 3-steps approach, we can evaluate complex CHD precisely and have no difficulties in communicating with other medial colleague. This pictorial essay revisits the logical steps of segmental approach, followed by a pictorial illustration of its application.