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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

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
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

Genetic testing of the family with a Carney-complex member leads to successful early removal of an asymptomatic atrial myxoma in the mother of the patient.
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

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.
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
Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.
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
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect.
Protonotarios N, Tsatsopoulou A
Orphanet J Rare Dis 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4. PMID: 16722579Free PMC Article
Hypertrophic obstructive cardiomyopathy as a manifestation of a cardiocutaneous syndrome (Noonan syndrome).
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
Cardiocutaneous syndrome continued.
Kraunz RF, Blackmon JR
N Engl J Med 1968 Aug 8;279(6):325. doi: 10.1056/nejm196808082790619. PMID: 5690746

Prognosis

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
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
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
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
Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.
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
Naxos disease: cardiocutaneous syndrome due to cell adhesion defect.
Protonotarios N, Tsatsopoulou A
Orphanet J Rare Dis 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4. PMID: 16722579Free PMC Article
Hypertrophic obstructive cardiomyopathy as a manifestation of a cardiocutaneous syndrome (Noonan syndrome).
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

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.
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
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
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
Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.
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
Structural and molecular pathology of the heart in Carvajal syndrome.
Kaplan SR, Gard JJ, Carvajal-Huerta L, Ruiz-Cabezas JC, Thiene G, Saffitz JE
Cardiovasc Pathol 2004 Jan-Feb;13(1):26-32. doi: 10.1016/S1054-8807(03)00107-8. PMID: 14761782
Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.
Carvajal-Huerta L
J Am Acad Dermatol 1998 Sep;39(3):418-21. doi: 10.1016/s0190-9622(98)70317-2. PMID: 9738775

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