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Cutis verticis gyrata associated with congenital heart disease.

Marta Teresa-PalacioMichael Agwu AkpokeAbubakarr Bailor BahVictoria Aldecoa-Bilbao
Published in: BMJ case reports (2024)
Cutis verticis gyrata (CVG) is a very rare benign disorder characterised by convoluted folds and deep furrows of the scalp that mimic cerebral sulci and gyri. Associations with other pathologies as neuropsychiatric and/or ophthalmologic disorders, secondary cases to inflammatory or neoplastic processes, as well as cases associated to genetic disorders as Turner's syndrome have been reported, but there is no literature describing an association with a congenital structural heart defect and no other underlying condition. We report a case of primary CVG in a 3-week-old female infant associated with an echocardiographic diagnosis of cor triatriatum. Other systemic examination findings and investigations were unremarkable, and the patient has normal neurodevelopment at 1 year old. Aside from the neuropsychiatric and ophthalmologic pathologies commonly associated with primary non-essential CVG, it should be noted that isolated congenital cardiac lesions are also possible, so as to increase our index of suspicion in patients with the disorder.
Keyphrases
  • case report
  • left ventricular
  • systematic review
  • heart failure
  • subarachnoid hemorrhage
  • oxidative stress
  • genome wide
  • clinical trial
  • gene expression
  • copy number
  • dna methylation
  • ejection fraction
  • left atrial