U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cardiocutaneous syndrome

MedGen UID:
1843498
Concept ID:
C0543816
Disease or Syndrome
Synonym: cardiocutaneous syndrome
 
Monarch Initiative: MONDO:0100071

Definition

Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation. [from MONDO]

Professional guidelines

PubMed

Vermeer MCSC, Andrei D, Marsili L, van Tintelen JP, Silljé HHW, van den Berg MP, van der Meer P, Bolling MC
Int J Mol Sci 2022 Sep 15;23(18) doi: 10.3390/ijms231810765. PMID: 36142674Free PMC Article

Recent clinical studies

Etiology

Aspres N, Bleasel NR, Stapleton KM
Australas J Dermatol 2003 May;44(2):121-2. doi: 10.1046/j.1440-0960.2003.00657.x. PMID: 12752185

Diagnosis

Sun Q, Wine Lee L, Hall EK, Choate KA, Elder RW
Pediatr Dermatol 2021 Jan;38(1):31-38. Epub 2020 Dec 4 doi: 10.1111/pde.14478. PMID: 33275305
Sato T, Okada S, Iwahana T, Kobayashi Y
Intern Med 2021 Apr 1;60(7):1119-1126. Epub 2020 Nov 2 doi: 10.2169/internalmedicine.5899-20. PMID: 33132336Free PMC Article
Sharma A, Duraisamy S, Pandey NN, Kumar S
BMJ Case Rep 2018 Oct 24;2018 doi: 10.1136/bcr-2018-227332. PMID: 30361455Free PMC Article
Protonotarios N, Tsatsopoulou A
Orphanet J Rare Dis 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4. PMID: 16722579Free PMC Article
Kraunz RF, Blackmon JR
N Engl J Med 1968 Aug 8;279(6):325. doi: 10.1056/nejm196808082790619. PMID: 5690746

Prognosis

Vermeer MCSC, Andrei D, Marsili L, van Tintelen JP, Silljé HHW, van den Berg MP, van der Meer P, Bolling MC
Int J Mol Sci 2022 Sep 15;23(18) doi: 10.3390/ijms231810765. PMID: 36142674Free PMC Article
Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC
Exp Dermatol 2022 Jun;31(6):970-979. Epub 2022 Apr 1 doi: 10.1111/exd.14571. PMID: 35325485Free PMC Article
Sun Q, Wine Lee L, Hall EK, Choate KA, Elder RW
Pediatr Dermatol 2021 Jan;38(1):31-38. Epub 2020 Dec 4 doi: 10.1111/pde.14478. PMID: 33275305
Protonotarios N, Tsatsopoulou A
Orphanet J Rare Dis 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4. PMID: 16722579Free PMC Article
Pongratz G, Friedrich M, Unverdorben M, Kunkel B, Bachmann K
Klin Wochenschr 1991 Dec 11;69(20):932-6. doi: 10.1007/BF01798545. PMID: 1795500

Clinical prediction guides

Vermeer MCSC, Andrei D, Marsili L, van Tintelen JP, Silljé HHW, van den Berg MP, van der Meer P, Bolling MC
Int J Mol Sci 2022 Sep 15;23(18) doi: 10.3390/ijms231810765. PMID: 36142674Free PMC Article
Vermeer MCSC, Andrei D, Kramer D, Nijenhuis AM, Hoedemaekers YM, Westers H, Jongbloed JDH, Pas HH, van den Berg MP, Silljé HHW, van der Meer P, Bolling MC
Exp Dermatol 2022 Jun;31(6):970-979. Epub 2022 Apr 1 doi: 10.1111/exd.14571. PMID: 35325485Free PMC Article
Sun Q, Wine Lee L, Hall EK, Choate KA, Elder RW
Pediatr Dermatol 2021 Jan;38(1):31-38. Epub 2020 Dec 4 doi: 10.1111/pde.14478. PMID: 33275305
Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ
Am J Hum Genet 2007 Nov;81(5):964-73. Epub 2007 Sep 28 doi: 10.1086/521633. PMID: 17924338Free PMC Article
Carvajal-Huerta L
J Am Acad Dermatol 1998 Sep;39(3):418-21. doi: 10.1016/s0190-9622(98)70317-2. PMID: 9738775

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...