Key result
Recognizing inherited cardiocutaneous syndrome lesions aids screening to detect potentially fatal cardiac anomalies.
Why the study?
Inherited syndromes with both cardiac and skin manifestations share overlapping developmental pathways that are not fully understood, necessitating a comprehensive review to aid clinical recognition and diagnosis.
May prompt targeted cardiac screening in syndromic patients; leaves open prospective validation of diagnostic yield.
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.
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Bardawil et al. (2016) conducted a review in Inherited cardiocutaneous syndromes. Recognizing specific cutaneous lesions in inherited cardiocutaneous syndromes can help physicians screen for and uncover potentially fatal underlying cardiac anomalies.
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