Cardiovascular Diseases | Higher Education | Medicine and Health Sciences | Skin and Connective Tissue Diseases
We present the case of a 15 y/o previously healthy male who presented to CHMC from an OSH with a 3 day history of shortness of breath, audible clicking noise, and chest discomfort after playing at the batting cages 4 days prior. No history of trauma. He was transferred to CHMC for further evaluation after identification of a pneumothorax on chest CT performed at OSH.
With respect to family history, the patient is one of 8 children. Of note, per discussion with family, his older siblings are all tall and have some connective tissue anomalies. Two siblings were noted to have developmental delay.
Physical exam was significant for the following: 4/6 mid-systolic click heard best at the left 5th intercostal when lying supine or left lateral decubitus, resolves with sitting up. Positive for 7 of the criteria for connective tissue disorder per the Ghent revised criteria including: wingspan to height ratio was 78" to height 76" (ratio 1.02), Pubic symphysis to floor 45", pectus excavatum, bilateral positive wrist sign, left thumb sign, hindfoot deformity, skin striae evident on his back and posterior auricular aspect of his neck bilaterally.
Initial management included 15L 100% FiO2 per oxy mask. Genetics was consulted with concern for underlying connective tissue disorder. Cardiology was consulted with concern for new onset murmur and an ECHO was performed. Serial imaging of his pneumothorax did not show improvement but as he was clinically stable and asymptomatic, the patient was discharged with follow-up with pediatric surgery scheduled for 2 weeks later. Follow-up with ophthalmology revealed no evidence of myopia or subluxation of the intraocular lens in either eye.
Hamman sign, connective tissue disorder, spontaneous pneumothorax
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Dave, A., , Cantrell, J. New Onset Murmur or Hamman’s Sign: Mid-systolic click in a Suspected case of Connective Tissue Disorder. Graduate Medical Education Research Journal. 2020 Sep 29; 2(1).