A Case of Marfan Syndrome Presenting as Tension Pneumothorax in A Tertiary Care Setup
DOI:
https://doi.org/10.51985/JBUMDC2023208Keywords:
Marfan, pneumothorax, mitral valve prolapse, mitral regurgitationAbstract
Marfan Syndrome is a rare connective tissue condition that affects several systems, including musculoskeletal, cardiovascular and ocular systems. Although less frequent, pulmonary involvement can nevertheless lead to emphysema, bullae, apical blebs, and a higher risk of spontaneous pneumothorax. Another option is pectus excavatum, carinatum, or scoliosis-related restrictive lung disease. We will discuss a case of 18 year old girl, with marfanoid habitus, non-smoker with history of ATT taken on radiological grounds, with complains of shortness of breath on and off and presenting with sudden onset worsening of shortness of breath and dry cough for 3 weeks. Chest x-ray showed tension pneumothorax. After emergency management echo was done and it showed MVP with MR. Patient was diagnosed as a case of Marfan Syndrome following Ghent criteria. The case indicates that pneumothorax though rare can be first presentation of Marfan Syndrome
References
Ratnaparkhe VR, Upadhyay K. Pneumothorax in Marfan
Syndrome: A Case Report.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA.
The genetics of pneumothorax. American journal of respiratory
and critical care medicine. 2019;199(11):1344-57.
Matsumoto T, Uto K, Oda H, Isaka T, Nagashima Y, Kanzaki
M. Pleural changes in patients with pneumothoraces and
Marfan syndrome. Journal of Thoracic Disease.
;12(9):4877.
Tun MH, Borg B, Godfrey M, Hadley-Miller N, Chan ED.
Respiratory manifestations of Marfan syndrome: a narrative
review. Journal of Thoracic
El Ouali Z, Id El Haj N, Boubia S, Ridai M. Recurrent
spontaneous pneumothorax revealing Marfan's syndrome.
Revue des Maladies Respiratoires. 2019;37(1):86-90.
Wood JR, Bellamy D, Child AH, Citron KM. Pulmonary
disease in patients with Marfan syndrome. Thorax.
;39(10):780-4. doi: 10.1136/thx.39.10.780. PMID:
; PMCID: PMC459918.
Karpman C, Aughenbaugh GL, Ryu JH. Pneumothorax and
bullae in Marfan syndrome. Respiration. 2011;82(3):219-24.
doi: 10.1159/000322958. Epub 2011 Jan 22. PMID: 21252480.
Sunouchi T, Watanabe Y, Tomonaga K, Watanabe E, Ichijo
C, Hoshino N, Suzuki K, Fujishiro J. Optimal treatment of
pneumothorax in adolescents with Marfan syndrome. Journal
of Pediatric Surgery. 2021;56(7):1103-6.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De
Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre
L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P,
De Paepe AM. The revised Ghent nosology for the Marfan
syndrome. J Med Genet. 2010;47(7):476-85. doi: 10.1136/
jmg.2009.072785. PMID: 20591885.
Pollock L, Ridout A, Teh J, Nnadi C, Stavroulias D, Pitcher
A, Blair E, Wordsworth P, Vincent TL. The Musculoskeletal
Manifestations of Marfan Syndrome: Diagnosis, Impact, and
Management. Curr Rheumatol Rep. 2021;23(11):81. doi:
1007/s11926-021-01045-3. PMID: 34825999; PMCID:
PMC8626407
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Copyright (c) 2024 Tehreem Ahmad, Hina Asghar, Areeba Hasan
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