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Items: 15

1.

Hypertrophic cardiomyopathy 4

While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.

The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.

Nonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.

In familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.

Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy.  [from MedlinePlus Genetics]

MedGen UID:
350526
Concept ID:
C1861862
Disease or Syndrome
2.

Hypertrophic cardiomyopathy 6

Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild to severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005). [from OMIM]

MedGen UID:
331466
Concept ID:
C1833236
Disease or Syndrome
3.

Dilated cardiomyopathy 1E

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. [from MONDO]

MedGen UID:
331341
Concept ID:
C1832680
Disease or Syndrome
4.

Dilated cardiomyopathy 1C

An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LDB3 gene, encoding LIM domain-binding protein 3. [from NCI]

MedGen UID:
316944
Concept ID:
C1832244
Disease or Syndrome
5.

Hypertrophic cardiomyopathy 11

An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, alpha cardiac muscle 1. [from NCI]

MedGen UID:
436962
Concept ID:
C2677506
Disease or Syndrome
6.

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
7.

Hypertrophic cardiomyopathy 10

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene. [from MONDO]

MedGen UID:
331754
Concept ID:
C1834460
Disease or Syndrome
8.

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

Progressive external ophthalmoplegia-4 (PEOA4) is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). [from OMIM]

MedGen UID:
350480
Concept ID:
C1864668
Disease or Syndrome
9.

Hypertrophic cardiomyopathy 16

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene. [from MONDO]

MedGen UID:
462554
Concept ID:
C3151204
Disease or Syndrome
10.

Dilated cardiomyopathy 1V

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene. [from MONDO]

MedGen UID:
462308
Concept ID:
C3150958
Disease or Syndrome
11.

Hypertrophic cardiomyopathy 26

Familial cardiomyopathy caused by mutation in the FLNC gene has been described as hypertrophic, restrictive, dilated, or arrhythmogenic right ventricular cardiomyopathy. Affected individuals, especially those with dilated cardiomyopathy, are at risk for arrhythmias and sudden death. Arrhythmias without cardiomyopathy, and left ventricular noncompaction, have also been reported (Ortiz-Genga et al., 2016; Verdonschot et al., 2020). [from OMIM]

MedGen UID:
934716
Concept ID:
C4310749
Disease or Syndrome
12.

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
13.

Arrhythmogenic right ventricular dysplasia 13

Arrhythmogenic right ventricular cardiomyopathy/dysplasia-13 (ARVD13) is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013). [from OMIM]

MedGen UID:
816468
Concept ID:
C3810138
Disease or Syndrome
14.

Arrhythmogenic right ventricular dysplasia, familial, 14

Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur (Mayosi et al., 2017). For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970). [from OMIM]

MedGen UID:
1712001
Concept ID:
C5394505
Disease or Syndrome
15.

Left bundle branch block

A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. [from HPO]

MedGen UID:
7286
Concept ID:
C0023211
Disease or Syndrome
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