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Items: 9

1.

Dilated cardiomyopathy 1R

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. [from MONDO]

MedGen UID:
462031
Concept ID:
C3150681
Disease or Syndrome
2.

Dilated cardiomyopathy 2A

A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13. [from MONDO]

MedGen UID:
437214
Concept ID:
C2678474
Disease or Syndrome
3.

Dilated cardiomyopathy 1AA

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. [from MONDO]

MedGen UID:
393713
Concept ID:
C2677338
Disease or Syndrome
4.

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma

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]

MedGen UID:
340124
Concept ID:
C1854063
Disease or Syndrome
5.

Hypertrophic cardiomyopathy 15

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. [from MONDO]

MedGen UID:
413312
Concept ID:
C2750459
Disease or Syndrome
6.

Glycogen storage disease XV

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. [from ORDO]

MedGen UID:
462104
Concept ID:
C3150754
Disease or Syndrome
7.

Cardiomyopathy, familial hypertrophic 27

CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family. [from OMIM]

MedGen UID:
1648325
Concept ID:
C4748014
Disease or Syndrome
8.

Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies

Hypertrophic cardiomyopathy-29 (CMH29) is characterized by recurrent syncope, dyspnea on exertion, and palpitations. The clinical phenotype is associated with a poor prognosis due to lethal arrhythmias and cardiac failure. Cardiac muscle biopsies show intermyofibrillar accumulation of glycogen and polyglucosan bodies within cardiomyocytes, and skeletal muscle accumulation of glycogen has also been observed (Hedberg-Oldfors et al., 2019). For a general phenotypic description and discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). [from OMIM]

MedGen UID:
1824081
Concept ID:
C5774308
Disease or Syndrome
9.

Cardiomyocyte hypertrophy

An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. [from HPO]

MedGen UID:
909741
Concept ID:
C4227331
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