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Arrhythmogenic cardiomyopathy with wooly hair and keratoderma(DCWHK)

MedGen UID:
340124
Concept ID:
C1854063
Disease or Syndrome
Synonyms: Arrhythmogenic cardiomyopathy with woolly hair and keratoderma; Carvajal syndrome; Dilated cardiomyopathy with woolly hair and keratoderma; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
SNOMED CT: Carvajal syndrome (719835006); Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (719835006); Keratoderma with wooly hair type II (719835006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): DSP (6p24.3)
 
Monarch Initiative: MONDO:0011581
OMIM®: 605676
Orphanet: ORPHA65282

Definition

Dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is characterized by the presence of woolly or sparse hair from birth. Some patients exhibit fragile skin with blisters/erosions after minor mechanical trauma, with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported, but patients may remain asymptomatic into the fourth decade of life. Some patients exhibit an arrhythmogenic form of cardiomyopathy, with sudden death in early adulthood (Carvajal-Huerta, 1998; Whittock et al., 2002; Alcalai et al., 2003; Uzumcu et al., 2006). Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (Naxos disease; 601214) is caused by mutation in the plakoglobin gene (JUP; 173325). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645). Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA; 615821) is caused by heterozygous mutation in DSP. An isolated form of striated PPK (PPKS2; 612908) is also caused by heterozygous mutation in DSP. Reviews In a review of cardiocutaneous syndromes and arrhythmogenic cardiomyopathy, Sen-Chowdhry and McKenna (2014) stated that although the cardiac component of Carvajal syndrome was originally considered dilated cardiomyopathy, many of its features resemble those of arrhythmogenic cardiomyopathy (see 607450). In addition, they noted that different disease subtypes have been found to coexist within the same kindred, suggesting a role for modifier genes and/or environmental influences. [from OMIM]

Clinical features

From HPO
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
Palmoplantar keratosis
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Palmoplantar keratoderma
MedGen UID:
1635750
Concept ID:
C4551675
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
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.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Abnormality of the cardiovascular system
MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
Any abnormality of the cardiovascular system.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Tooth agenesis
MedGen UID:
869773
Concept ID:
C4024202
Finding
The absence of one or more teeth from the normal series by a failure to develop
Acantholysis
MedGen UID:
1687
Concept ID:
C0000887
Pathologic Function
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Fragile skin
MedGen UID:
66826
Concept ID:
C0241181
Finding
Skin that splits easily with minimal injury.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
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.
Palmoplantar erythema
MedGen UID:
1377065
Concept ID:
C4476809
Finding
Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.
Palmoplantar scaling skin
MedGen UID:
1371657
Concept ID:
C4476827
Finding
Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.
Cardiomyocyte hypertrophy
MedGen UID:
909741
Concept ID:
C4227331
Finding
An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArrhythmogenic cardiomyopathy with wooly hair and keratoderma
Follow this link to review classifications for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma in Orphanet.

Professional guidelines

PubMed

Tsatsopoulou AA, Protonotarios NI, McKenna WJ
Heart 2006 Dec;92(12):1720-3. Epub 2006 May 12 doi: 10.1136/hrt.2005.081679. PMID: 16698823Free PMC Article
Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P
J Am Coll Cardiol 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735-1097(01)01568-6. PMID: 11691526

Recent clinical studies

Etiology

Protonotarios I, Asimaki A, Xylouri Z, Protonotarios A, Tsatsopoulou A
Heart Fail Clin 2022 Jan;18(1):89-99. Epub 2021 Oct 22 doi: 10.1016/j.hfc.2021.07.010. PMID: 34776086
Leopoulou M, Mattsson G, LeQuang JA, Pergolizzi JV, Varrassi G, Wallhagen M, Magnusson P
Expert Rev Cardiovasc Ther 2020 Nov;18(11):801-808. Epub 2020 Oct 8 doi: 10.1080/14779072.2020.1828064. PMID: 32966140
Pilichou K, Thiene G, Bauce B, Rigato I, Lazzarini E, Migliore F, Perazzolo Marra M, Rizzo S, Zorzi A, Daliento L, Corrado D, Basso C
Orphanet J Rare Dis 2016 Apr 2;11:33. doi: 10.1186/s13023-016-0407-1. PMID: 27038780Free PMC Article
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C
Acta Derm Venereol 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974. PMID: 25227139
Thiene G, Corrado D, Basso C
Orphanet J Rare Dis 2007 Nov 14;2:45. doi: 10.1186/1750-1172-2-45. PMID: 18001465Free PMC Article

Diagnosis

Protonotarios I, Asimaki A, Xylouri Z, Protonotarios A, Tsatsopoulou A
Heart Fail Clin 2022 Jan;18(1):89-99. Epub 2021 Oct 22 doi: 10.1016/j.hfc.2021.07.010. PMID: 34776086
Pilichou K, Thiene G, Bauce B, Rigato I, Lazzarini E, Migliore F, Perazzolo Marra M, Rizzo S, Zorzi A, Daliento L, Corrado D, Basso C
Orphanet J Rare Dis 2016 Apr 2;11:33. doi: 10.1186/s13023-016-0407-1. PMID: 27038780Free PMC Article
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C
Acta Derm Venereol 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974. PMID: 25227139
Thiene G, Corrado D, Basso C
Orphanet J Rare Dis 2007 Nov 14;2:45. doi: 10.1186/1750-1172-2-45. PMID: 18001465Free 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

Therapy

Guerra L, Magliozzi M, Baban A, Di Mambro C, Di Zenzo G, Novelli A, El Hachem M, Zambruno G, Castiglia D
Acta Derm Venereol 2019 Jul 1;99(9):831-832. doi: 10.2340/00015555-3216. PMID: 31073624
Erolu E, Akalın F, Saylan Çevik B, Yücelten D
Pediatr Int 2018 Oct;60(10):987-989. doi: 10.1111/ped.13683. PMID: 30345701

Prognosis

Santos-Ferreira C, Baptista R, Teixeira T, Gonçalves L
BMC Cardiovasc Disord 2022 Feb 12;22(1):41. doi: 10.1186/s12872-022-02472-5. PMID: 35151254Free PMC Article
Leopoulou M, Mattsson G, LeQuang JA, Pergolizzi JV, Varrassi G, Wallhagen M, Magnusson P
Expert Rev Cardiovasc Ther 2020 Nov;18(11):801-808. Epub 2020 Oct 8 doi: 10.1080/14779072.2020.1828064. PMID: 32966140
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C
Acta Derm Venereol 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974. PMID: 25227139
Thiene G, Corrado D, Basso C
Orphanet J Rare Dis 2007 Nov 14;2:45. doi: 10.1186/1750-1172-2-45. PMID: 18001465Free 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

Clinical prediction guides

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM, Lambiase PD, Tinker A, McKenna WJ, Kelsell DP
Br J Dermatol 2019 May;180(5):1114-1122. Epub 2019 Jan 2 doi: 10.1111/bjd.17388. PMID: 30382575Free PMC Article
Pigors M, Schwieger-Briel A, Cosgarea R, Diaconeasa A, Bruckner-Tuderman L, Fleck T, Has C
Acta Derm Venereol 2015 Mar;95(3):337-40. doi: 10.2340/00015555-1974. PMID: 25227139
Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH
Cardiology 2009;113(1):28-34. Epub 2008 Oct 29 doi: 10.1159/000165696. PMID: 18957847
Protonotarios N, Tsatsopoulou A, Anastasakis A, Sevdalis E, McKoy G, Stratos K, Gatzoulis K, Tentolouris K, Spiliopoulou C, Panagiotakos D, McKenna W, Toutouzas P
J Am Coll Cardiol 2001 Nov 1;38(5):1477-84. doi: 10.1016/s0735-1097(01)01568-6. PMID: 11691526
Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ
Circulation 1998 May 26;97(20):2049-58. doi: 10.1161/01.cir.97.20.2049. PMID: 9610536

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