• Journal of Chest Surgery
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• 제21권5호
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• pp.882-888
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• 1988

A case of Annuloaortic Ectasia associated with Marfan syndrome and mitral regurgitation is treated surgically by Bentall`s method and mitral annuloplasty. The Annuloaortic Ectasia is frequently accompanied with Marfan syndrome, its definition is simply explained as the following; the marked dilatation of the sinuses of Valsalva and the aortic annulus as well as the huge aneurysm of the ascending aorta. As the operative finding, the intimal tearing was shown as circular and the both coronary ostia were changed the position into high up. The patient was taken a corrective operation replacing the ascending aorta and aortic valve with a composite graft[St. Jude medical valve 29mm, woven Dacron tubular graft 31mm]. The both coronary ostia were reimplanted on the graft with 4-0 prolene by continuous suture. Mitral annuloplasty was performed. After the operation, the patient developed both spontaneous pneumothorax, he improved state by the closed thoracostomy. He has been doing well, postoperatively.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.41-45
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• 2016

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.43-46
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• 2020

The Shprintzen-Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI. SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is sometimes quite challenging in practice because it has diverse clinical features involving skeletal, neurological, and cardiovascular system. Here we report a case of a 6-month-old boy who initially presented with developmental delay and marfanoid facial features including prominent forehead, hypertelorism, high arched palate and retrognathia. He showed motor developmental delay since birth and could not control his head at the time of first evaluation. His height was above 2 standard deviation score. Arachnodactyly, hypermobility of joints, skin laxity, and pectus excavatum were also noted. Sequencing for FBN1 was negative, however, a novel missense variant, c.350G>A in SKI was identified by sequential whole exome sequencing. To our knowledge, this is the first case with SGS with phenotypic features of SGS overlapping with those of the Marfan syndrome, diagnosed by next generation sequencing in Korea.

• Journal of Chest Surgery
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• 제21권1호
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• pp.158-163
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• 1988

12 Patients with thoracic aortic aneurysm were operated between May 1985 to Sept. 1987 at the our department, Hanyang University Hospital. We retrospectively evaluated the surgical results and considered diagnosis, surgical approach and perioperative problems of thoracic aortic aneurysm. There are 9 males and 3 females in the patients. The age ranged from 23 to 61 years with the mean age at 40.6 years. The cause of the aneurysm was atherosclerosis in 5, Marfan`s syndrome in 4, syphilis In 1, trauma in 1 and annuloaortic ectasia in 1 case. According to DeBakey`s classification, Type I was 1 case, Type II was 5 cases and Type III was 6 cases. Among 6 patients with ascending aortic aneurysm, Bentall`s operation in 4 cases and ascending aorta reconstruction using to Dacron Tube Graft in 2 cases were performed successfully. 6 cases with descending aortic aneurysm were managed by prosthetic graft replacement. Chylothorax was observed in 1 patient and postoperative hemorrhage necessitating reopening of the chest occurred in 4 of operative survivors. There were 2 hospital deaths; one patient was dead during the operation and one patient was dead during the post-operative course due to low cardiac output syndrome

• Journal of Chest Surgery
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• 제42권5호
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• pp.639-644
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• 2009

대동맥 동맥류/대동맥 박리증, 두눈먼거리증, 목젖갈림증/입천장갈림증, 그리고 동맥혈관계의 이상과다 뒤틀림 등을 독특한 표현형으로 하는 Loeys-Dietz 증후군은 새로이 기술된 공격적 성향의 결체 조직 질환으로, transforming growth factor-$\beta$ receptor type 1 또는 type 2를 encoding 하는 유전자 돌연 변이가 발병 원인이다. Loeys-Dietz 증후군은 Marfan 증후군, Ehlers-Danlos 증후군 4형 등의 표현형과 일부 비슷한 형태를 공유한다. 그러나, Loeys-Dietz 증후군은 다른 질환보다 더 심한 병태생리적 특성을 가지고 있기 때문에, 임상의들은 이들 결체 조직 질환들을 감별하여야 한다. 강한 의심, 조기 진단, 예방적 수술, 그리고 지속적 영상 검사가 적절한 Loeys-Dietz 증후군 치료를 위해 실행되어야 한다. 저자들은 대동맥 파열, 목젖갈림증, 그리고 두눈먼거리증의 3징후를 가진 Loeys-Dietz 증후군의 환자를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Chest Surgery
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• 제26권2호
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• pp.154-157
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• 1993

Aortic dissection of the young woman without Marfan disease is related, in most instances, to pregnancy. We experienced a case of acute type A aortic dissection. The patient was 25 years old woman in 35 weeks of gestational age without evidence of Marfan's syndrome. The challenge of management was successfully met by delivery of the fetus first, followed by aorta surgery. 42 minutes of total circulatory arrest and 104 minutes of total aortic cross clamp time were needed. 34 minutes of selective cerebral perfusion via right axillary artery was used. The patient had uneventful hospital course and was discharged with her healthy baby on 15 th postoperative day.

• Neonatal Medicine
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• 제25권1호
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• pp.49-52
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• 2018

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.

• 대한소아치과학회지
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• 제29권2호
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• pp.196-203
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• 2002

함치성 낭종은 흔한 발육성 낭종이지만 양측성 함치성 낭종은 극히 드물다. 양측성 또는 다발성 함치성 낭종은 일반적으로 다양한 syndrome과 연관된다. 본 증례는 특별한 전신질환이나 syndrome이 없이 5세 3개월에 하악 우측 제 1소구치에서, 이후 7세 6개월에 하악 좌측 제 1소구치에서 함치성 낭종이 발생하였으며, 조대술을 시행한 후, 환아의 임상적, 방사선학적 관찰 및 치료에서 다음과 같은 지견을 얻었기에 보고하는 바이다. 1. 낭종의 크기가 큰 경우의 치료 방법으로 적출술보다 조대술이 선택될 수 있다. 2. 조대술은 치아의 맹출력이 있는 연령에 발생된 함치성 낭종에서 dentoalveolar structure를 가능한 보존하고, 낭종에 이환된 치아의 맹출을 기대하는 목적으로 이용된다. 3. 양측성 또는 다발성 함치성 낭종은 다양한 syndrome과 함께 발견되는 것이 일반적이나, 본 증례는 syndrome과의 연관성 없이 하악 우측과 좌측 소구치부에서 함치성 낭종이 발생되었으며, 향후 또 발생할 가능성에 대하여 환자 및 보호자에게 사전에 알리는 것이 필요하다고 생각된다.

• Journal of Chest Surgery
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• 제35권8호
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• pp.630-633
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• 2002

Although the incidence of descending necrotizing mediastinitis(DNM) is low, this is a serious disease because it"s mortality have been reported to be as high as 40∼50%. Currently, many authors have emphasized aggressive surgical approaches rather than medical treatment alone. We report good results in 2 DNM patients treated by less invasive approach with video-assisted thoracoscopic surgery, Less invasive methods with video-assisted thoracoscopic surgery can reduce hospital stay and morbidity if effective drainage can be achieved in selected DNM patients.

• Journal of Chest Surgery
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• 제12권3호
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• pp.183-190
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• 1979

A 23-year-old male patient complained dyspnea on exertion and orthopnea since December 1977. On examination, he was tall and slender. There was grade IV/VI to-and-fro murmur on the left sternal border especially on Erb`s point. The liver was descended 2 fingers breadth below right costal margin. There were no signs of Marfan`s syndrome. Echocardiography demonstrated partial closure of aortic valve and dilated aortic root with enlargement of ascending aorta. Left heart cardiac catheterization revealed moderately elevated pulmonary wedge pressure and right ventricular pressure. The left ventricular end diastolic pressure was markedly elevated to 26 mmHg. On aortography, the aortic regurgitation was severe and it was belonged to angiographically Grade IV. The aortic valve was replaced with Carpentier-Edwards valve without excision and replacement of ascending aorta, under the impression of rheumatic valvular heart disease. After closure of aortotomy, blood pressure was transiently elevated and bleeding from the site of inserting air vent needle of ascending aorta was developed. The bleeding was not controlled by any means. On postmortem microscopic study, the histologic changes were strikingly limited to the ascending aorta from the region of the aortic valve ring.