Citation Information :
Suhas H, Desai U, Joshi JM. Hereditary Haemorrhagic Telangiectasia with Mitral Valve Prolapse and Straight Back Syndrome: A Rare Association. Indian J Chest Dis Allied Sci 2018; 60 (3):155-157.
Hereditary haemorrhagic telangiectasia (HHT), synonymously known as Osler-Weber-Rendu syndrome, is a rare autosomal inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver and central nervous system. Straight back syndrome is characterised by the loss of normal upper thoracic spinal curvature, i.e. thoracic kyphosis, resulting in reduced antero-posterior diameter of thorax, often associated with cardiac murmurs on auscultaion and cardiomegaly on chest radiograph. The association of these abnormalities occurring simultaneously has been rarely reported. We present a case of HHT and mitral valve prolapse (MVP) associated with straight back syndrome. The patient also had respiratory failure.
te Veldhuis EC, te Veldhuis AH, van Dijk FS, Kwee ML, van Hagen JM, Baart JA, et al. Rendu-Osler-Weber disease: update of medical and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol 2008;105:e38–e41.
Deleon AC Jr, Perloff JK, Twigg H, Majd M. The straight back syndrome: clinical cardiovascular manifestations. Circulation 1965;32:193–203.
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, et al. HHT Foundation International – Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011;48:73–87.
Davies MK, Mackintosh P, Cayton RM, Page AJF, Shiu MF, Littler WA. The straight back syndrome. Q J Med 1980;49:443–60.
Grillo HC, Wright CD, Dartevelle PG, Wain JC, Murakami S. Tracheal compression caused by straight back syndrome, chest wall deformity, and anterior spinal displacement: techniques for relief. Ann Thorac Surg 2005;80:2057–62.
Chen WW, Chan FL, Wong PH, Chow JS. Familial occurrence of mitral valve prolapse: is this related to straight back syndrome? Br Heart J 1983;50:97–100.
Masayuki Kambe. Straight back syndrome and respiratory failure. Japan Med Assoc J 2006;49:176–9.
Richmon JD, Tian Y, Husseman J, Davidson TM. Use of a sprayed fibrin hemostatic sealant after laser therapy for hereditary hemorrhagic telangiectasia epistaxis. Am J Rhinol 2007;21:187–91.
James RG, Ghassan K. Pulmonary arteriovenous malformation: a state of art review. Am J Respir Criti Care Med 1998;158:643–61.
