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Genetics of inherited cardiocutaneous syndromes: a review
  1. Tara Bardawil1,
  2. Samar Khalil1,
  3. Christina Bergqvist2,
  4. Ossama Abbas2,
  5. Abdul Ghani Kibbi2,
  6. Fadi Bitar3,4,
  7. Georges Nemer3 and
  8. Mazen Kurban2,3,5
  1. 1American University of Beirut, Beirut Lebanon
  2. 2Department of Dermatology, American University of Beirut, Beirut Lebanon
  3. 3Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut Lebanon
  4. 4Department of Pediatrics, American University of Beirut, Beirut Lebanon
  5. 5Department of Dermatology, Columbia University Medical Center, New York, New York, USA
  1. Correspondence to Dr Mazen Kurban; mk104{at}


The life of a human being originates as a single cell which, under the influence of certain factors, divides sequentially into multiple cells that subsequently become committed to develop and differentiate into the different structures and organs. Alterations occurring early on in the development process may lead to fetal demise in utero. Conversely, abnormalities at later stages may result in structural and/or functional abnormalities of varying severities. The cardiovascular system and skin share certain developmental and structural factors; therefore, it is not surprising to find several inherited syndromes with both cardiac and skin manifestations. Here, we will review the overlapping pathways in the development of the skin and heart, as well as the resulting syndromes. We will also highlight several cutaneous clues that may help physicians screen and uncover cardiac anomalies that may be otherwise hidden and result in sudden cardiac death.

  • Cardiocutaneous
  • Dermatologic
  • Congenital
  • Syndromes

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  • GN and MK These authors contributed equally to the work.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement No additional data are available.

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