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Results: 1 to 20 of 28

1.

Hypertrophic cardiomyopathy

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. [from HPO]

MedGen UID:
504884
Concept ID:
CN001492
Finding
2.

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [from HPO]

MedGen UID:
504883
Concept ID:
CN001491
Finding
3.

Cardiomyopathy

Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including: - Heart failure . - Abnormal heart rhythms . - Heart valve problems. - Sudden cardiac arrest. Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
4.

Primary familial hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood. [from GeneReviews]

MedGen UID:
183649
Concept ID:
C0949658
Disease or Syndrome
5.

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle; with time, it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years). [from GeneReviews]

MedGen UID:
87618
Concept ID:
C0349788
Disease or Syndrome
6.

Hypertrophic cardiomyopathy

A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY). [from MeSH]

MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
7.

Contraction

MedGen UID:
685783
Concept ID:
C1140999
Pathologic Function
8.

Dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. [from HPO]

MedGen UID:
504887
Concept ID:
CN001497
Finding
9.

Histiocytosis with joint contractures and sensorineural deafness

The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC described an autosomal recessive disease involving joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes (summary by Morgan et al., 2010). SHML, or familial Rosai-Dorfman disease, was described as a rare cause of lymph node enlargement in children, consisting of chronic massive enlargement of cervical lymph nodes frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. Extranodal sites were involved in approximately 25% of patients, including salivary glands, orbit, eyelid, spleen, and testes. The involvement of retropharyngeal lymphoid tissue sometimes caused snoring and sleep apnea (summary by Kismet et al., 2005). H syndrome was characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss was also found in about half of patients, and many had short stature. PHID was characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome, with hepatosplenomegaly occurring in about half of patients (Cliffe et al., 2009). Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that these phenotypes should be grouped together as 'SLC29A3 disorder.' Bolze et al. (2012) suggested that the histologic features of the lesions seemed to be the most uniform phenotype in these patients. In addition, the immunophenotype of infiltrating cells in H syndrome patients was shown to be the same as that seen in patients with the familial form of Rosai-Dorfman disease, further supporting the relationship between these disorders (Avitan-Hersh et al., 2011; Colmenero et al., 2012). [from OMIM]

MedGen UID:
400532
Concept ID:
C1864445
Disease or Syndrome
10.

Dilated cardiomyopathy 1A

LMNA-related dilated cardiomyopathy (DCM) is caused by mutations in LMNA and is characterized by left ventricular enlargement and reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias. LMNA-related DCM usually presents in early to mid-adulthood with symptomatic conduction system disease or arrhythmias, or with symptomatic DCM including heart failure or embolus from a left ventricular mural thrombus. Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with little systolic dysfunction. [from GeneReviews]

MedGen UID:
258500
Concept ID:
C1449563
Disease or Syndrome
11.

Fredrickson type IIa hyperlipoproteinemia

Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis. [from MeSH]

MedGen UID:
152875
Concept ID:
C0745103
Disease or Syndrome
12.

disease transmission

Transmission of disease from one individual to another. [from PSY]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function
13.

Primary dilated cardiomyopathy

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke . [from GeneReviews]

MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
14.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
15.

Myocardial Diseases, Secondary

MedGen UID:
19916
Concept ID:
C0036529
Disease or Syndrome
16.

Primary cardiomyopathy

Disease of the heart muscle associated with electrical or mechanical dysfunction, in which the heart is the sole or predominantly involved organ. [from SNOMEDCT_US]

MedGen UID:
18634
Concept ID:
C0033141
Disease or Syndrome
17.

Aortic Stenosis, Subvalvular

A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. [from MeSH]

MedGen UID:
8152
Concept ID:
C0003500
Disease or Syndrome
18.

Linkage (Genetics)

The association in inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
19.

Heart valve disorder

Your heart has four valves. Normally, these valves open to let blood flow through or out of your heart, and then shut to keep it from flowing backward. But sometimes they don't work properly. If they don't, you could have: -Regurgitation - when blood leaks back through the valve in the wrong direction. -Mitral valve prolapse - when one of the valves, the mitral valve, has floppy flaps and doesn't close tightly. It's one of the most common heart valve conditions. Sometimes it causes regurgitation. -Stenosis - when the valve doesn't open enough and blocks blood flow. Valve problems can be present at birth or caused by infections, heart attacks, or heart disease or damage. The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. But many people have heart murmurs without having a problem. Heart tests can show if you have a heart valve disease. Some valve problems are minor and do not need treatment. Others might require medicine, medical procedures, or surgery to repair or replace the valve. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
5463
Concept ID:
C0018824
Disease or Syndrome
20.

Cardiomegaly

hypertrophy or enlargement of the heart. [from CRISP]

MedGen UID:
5459
Concept ID:
C0018800
Finding

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