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Items: 9

1.

Danon disease

Danon disease is a multisystem condition with predominant involvement of the heart, skeletal muscles, and retina, with overlying cognitive dysfunction. Males are typically more severely affected than females. Males usually present with childhood onset concentric hypertrophic cardiomyopathy that is progressive and often requires heart transplantation. Rarely, hypertrophic cardiomyopathy can evolve to resemble dilated cardiomyopathy. Most affected males also have cardiac conduction abnormalities. Skeletal muscle weakness may lead to delayed acquisition of motor milestones. Learning disability and intellectual disability, most often in the mild range, are common. Additionally, affected males can develop retinopathy with subsequent visual impairment. The clinical features in females are broader and more variable. Females are more likely to have dilated cardiomyopathy, with a smaller proportion requiring heart transplantation compared to affected males. Cardiac conduction abnormalities, skeletal muscle weakness, mild cognitive impairment, and pigmentary retinopathy are variably seen in affected females. [from GeneReviews]

MedGen UID:
209235
Concept ID:
C0878677
Disease or Syndrome
2.

Dilated cardiomyopathy 1BB

Dilated cardiomyopathy-1BB (CMD1BB) is a life-threatening, intractable disease characterized by ventricular dilation and thinning (Shiba et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). [from OMIM]

MedGen UID:
414552
Concept ID:
C2752072
Disease or Syndrome
3.

Dilated cardiomyopathy 1FF

A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42. [from MONDO]

MedGen UID:
412876
Concept ID:
C2750091
Disease or Syndrome
4.

Early-onset myopathy with fatal cardiomyopathy

Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances. [from GeneReviews]

MedGen UID:
435983
Concept ID:
C2673677
Disease or Syndrome
5.

Hypertrophic cardiomyopathy 14

An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the MYH6 gene, encoding myosin-6. [from NCI]

MedGen UID:
442484
Concept ID:
C2750467
Disease or Syndrome
6.

Dilated cardiomyopathy 1U

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene. [from MONDO]

MedGen UID:
463620
Concept ID:
C3160720
Disease or Syndrome
7.

Cardiomyopathy, dilated, 2G

Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

MedGen UID:
1801983
Concept ID:
C5676995
Disease or Syndrome
8.

Cardiomyopathy, dilated, 2F

Dilated cardiomyopathy-2F (CMD2F) is an autosomal recessive early-onset cardiomyopathy associated with refractory ventricular arrhythmias and severe heart failure requiring placement of a left ventricular assist device (Hakui et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. [from OMIM]

MedGen UID:
1802616
Concept ID:
C5676917
Disease or Syndrome
9.

Severely reduced left ventricular ejection fraction

A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. [from HPO]

MedGen UID:
868396
Concept ID:
C4022790
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