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1.

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – 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, and 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
Congenital Abnormality; Disease or Syndrome
2.

Arrhythmogenic right ventricular dysplasia

MedGen UID:
894001
Concept ID:
CN239850
Disease or Syndrome
3.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy ?

MedGen UID:
834025
Concept ID:
CN231081
Disease or Syndrome
4.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy

MedGen UID:
808145
Concept ID:
CN221565
Disease or Syndrome
5.

Right

Being located on the right side of the body. [from HPO]

MedGen UID:
619189
Concept ID:
C0444532
Spatial Concept
6.

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
7.

Arrhythmogenic right ventricular cardiomyopathy, type 12

Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – 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, and 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:
409749
Concept ID:
C1969081
Disease or Syndrome
8.

Naxos disease

Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems. People with these conditions have hair that is unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also sparse. The woolly hair texture typically affects only scalp hair and is present from birth. Starting early in life, affected individuals also develop palmoplantar keratoderma, a condition that causes skin on the palms of the hands and the soles of the feet to become thick, scaly, and calloused.Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening health problem that can develop in people with keratoderma with woolly hair. Unlike the other features of this condition, signs and symptoms of cardiomyopathy may not appear until adolescence or later. Complications of cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, and sudden death.Keratoderma with woolly hair comprises several related conditions with overlapping signs and symptoms. Researchers have recently proposed classifying keratoderma with woolly hair into four types, based on the underlying genetic cause. Type I, also known as Naxos disease, is characterized by palmoplantar keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. Type III also has signs and symptoms similar to those of type I, including ARVC, although the hair and skin abnormalities are often milder. Type IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as well as abnormal fingernails and toenails. Type IV does not appear to cause cardiomyopathy.
[from GHR]

MedGen UID:
321991
Concept ID:
C1832600
Disease or Syndrome
9.

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
10.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
11.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
12.

Ventricular Dysfunction

A condition in which HEART VENTRICLES exhibit impaired function. [from MeSH]

MedGen UID:
69305
Concept ID:
C0242973
Pathologic Function
13.

Risk factor

Something that increases the chance of developing a disease. Some examples of risk factors for cancer are age, a family history of certain cancers, use of tobacco products, being exposed to radiation or certain chemicals, infection with certain viruses or bacteria, and certain genetic changes. [from NCI_NCI-GLOSS]

MedGen UID:
48477
Concept ID:
C0035648
Finding
14.

Tachycardia

A rapid heartrate that exceeds the range of the normal resting heartrate for age. [from HPO]

MedGen UID:
21453
Concept ID:
C0039231
Finding; Finding; Pathologic Function
15.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
16.

Ventricular tachycardia

MedGen UID:
776567
Concept ID:
C2108113
Laboratory or Test Result
17.

ECG abnormality

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. [from HPO]

MedGen UID:
321993
Concept ID:
C1832603
Finding
18.

Symptoms

An indication that a person has a condition or disease. Some examples of symptoms are headache, fever, fatigue, nausea, vomiting, and pain. [from NCI_NCI-GLOSS]

MedGen UID:
306142
Concept ID:
C1457887
Sign or Symptom
19.

Arrhythmia

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. [from HPO]

MedGen UID:
167788
Concept ID:
C0855329
Finding
20.

Ventricular Dysfunction, Right

A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall. [from MeSH]

MedGen UID:
116644
Concept ID:
C0242707
Pathologic Function
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