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Cardiomyopathy dilated with woolly hair and keratoderma(DCWHK)

MedGen UID:
340124
Concept ID:
C1854063
Disease or Syndrome
Synonyms: Cardiomyopathy, dilated with woolly hair and keratoderma; Carvajal syndrome; DCWHK; DCWHK CARVAJAL SYNDROME PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
 
Gene: DSP
Cytogenetic location: 6p24.3
OMIM: 605676

Clinical features

Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Congestive heart failure
MedGen UID:
504881
Concept ID:
CN001488
Finding
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

Recent clinical studies

Etiology

Rickelt S, Pieperhoff S
Cell Tissue Res 2012 May;348(2):325-33. Epub 2012 Mar 27 doi: 10.1007/s00441-012-1365-0. [Epub ahead of print] PMID: 22450909Free PMC Article
Barber S, Day P, Judge M, Toole EO, Fayle S
Int J Paediatr Dent 2012 Sep;22(5):390-6. Epub 2012 Mar 8 doi: 10.1111/j.1365-263X.2012.01230.x. [Epub ahead of print] PMID: 22404234
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. [Epub ahead of print] PMID: 21789513Free PMC Article
Chalabreysse L, Senni F, Bruyère P, Aime B, Ollagnier C, Bozio A, Bouvagnet P
J Dent Res 2011 Jan;90(1):58-64. Epub 2010 Oct 12 doi: 10.1177/0022034510383984. [Epub ahead of print] PMID: 20940358

Diagnosis

Salam AA, Remadevi KS, Kurup RP
Indian Pediatr 2013 Jun 8;50(6):596-8. PMID: 23942402
Barber S, Day P, Judge M, Toole EO, Fayle S
Int J Paediatr Dent 2012 Sep;22(5):390-6. Epub 2012 Mar 8 doi: 10.1111/j.1365-263X.2012.01230.x. [Epub ahead of print] PMID: 22404234
Nehme N, El Malti R, Roux-Buisson N, Caignault JR, Bouvagnet P
Cell Tissue Res 2012 May;348(2):261-4. Epub 2012 Feb 17 doi: 10.1007/s00441-012-1351-6. [Epub ahead of print] PMID: 22350851
Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. [Epub ahead of print] PMID: 21789513Free PMC Article
Krishnamurthy S, Adhisivam B, Hamilton RM, Baskin B, Biswal N, Kumar M
Indian J Pediatr 2011 Jul;78(7):866-9. Epub 2010 Dec 31 doi: 10.1007/s12098-010-0319-3. [Epub ahead of print] PMID: 21193976

Prognosis

Williams T, Machann W, Kühler L, Hamm H, Müller-Höcker J, Zimmer M, Ertl G, Ritter O, Beer M, Schönberger J
Clin Res Cardiol 2011 Dec;100(12):1087-93. Epub 2011 Jul 26 doi: 10.1007/s00392-011-0345-9. [Epub ahead of print] PMID: 21789513Free PMC Article
Ortaç R, Tavlı V, Diniz G, Yılmazer MM, Demirpençe S
Anadolu Kardiyol Derg 2011 Jun 1;11(4):E17-8. doi: 10.5152/akd.2011.100. [Epub ahead of print] PMID: 21592926
Chalabreysse L, Senni F, Bruyère P, Aime B, Ollagnier C, Bozio A, Bouvagnet P
J Dent Res 2011 Jan;90(1):58-64. Epub 2010 Oct 12 doi: 10.1177/0022034510383984. [Epub ahead of print] PMID: 20940358

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