title: Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report.
abstract: BACKGROUND
  Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen. The average age at death is 48 years old, and it is considered to be the most severe form of Ehlers-Danlos syndrome. We report the case of a 64-year-old Japanese woman and her 38-year-old daughter who were diagnosed with this disease.
  
  
  METHODS
  A 64-year-old Japanese woman was referred to our hospital because of right anterior chest pain following cough and pharyngeal discomfort. Pleurisy was suspected due to the presence of right pleural effusion, so the next day she was referred to our department, where a detailed examination led to the diagnosis of hemothorax. The bleeding that caused the right hemothorax was difficult to control, so our patient was transferred to the Department of Thoracic Surgery for hemostasis control. Our patient's personal history of uterine hemorrhage and skin ulcers, as well as the finding of skin fragility during surgery, were indicative of a weak connective tissue disease; therefore, after improvement of the hemothorax, a genetic analysis was performed. This revealed a heterozygous missense mutation in COL3A1, c.2411 G>T p.Gly804Val (exon 36). A detailed investigation conducted at a later date revealed that her daughter also had the same genetic mutation. This led to the diagnosis of vascular-type Ehlers-Danlos syndrome characterized by a new gene mutation.
  
  
  CONCLUSIONS
  We report a new genetic mutation associated with vascular-type Ehlers-Danlos syndrome. We present the clinical and imaging findings, and the disease and treatment course in this patient. We believe this information will be important in treating future cases of vascular-type Ehlers-Danlos syndrome in patients with this mutation.
authors: Department of Respiratory Medicine, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa, 240-8555, Japan. fk_respiratory@yahoo.co.jp.
authors: Fumihiro
authors: F
authors: Kashizaki
authors: Atsushi
authors: A
authors: Hatamochi
authors: Kazunori
authors: K
authors: Kamiya
authors: Akira
authors: A
authors: Yoshizu
authors: Hiroaki
authors: H
authors: Okamoto
references: Clin Genet. 1996 Dec;50(6):510-4
references: 9147885
references: Eur Respir J. 2002 Jan;19(1):195-8
references: 11843319
references: Intern Med. 2010;49(16):1797-800
references: 20720362
references: Histopathology. 2010 Jun;56(7):944-50
references: 20500229
references: N Engl J Med. 2000 Mar 9;342(10):673-80
references: 10706896
references: Circ J. 2007 Feb;71(2):261-5
references: 17251678
references: Intern Med. 2009;48(9):717-22
references: 19420820
references: Lancet. 2010 Oct 30;376(9751):1476-84
references: 20825986
references: J Nippon Med Sch. 2008 Oct;75(5):254-61
references: 19023163
references: Orphanet J Rare Dis. 2007 Jul 19;2:32
references: 17640391
references: Am J Med Genet. 1998 Apr 28;77(1):31-7
references: 9557891
references: J Vasc Surg. 2005 Jul;42(1):98-106
references: 16012458
references: Hum Mol Genet. 1994 Sep;3(9):1617-20
references: 7833919