Phenotypes associated with the disease Cardiomopathy, dilated, 2N (OMIM:621595):
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/6. (PMID:33534821)
- Aborted sudden cardiac death (HP:0031628): Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. Evidence: PCS. Frequency: 1/1. (PMID:33534821)
- Cardiac arrest (HP:0001695): An abrupt loss of heart function. Evidence: PCS. Frequency: 1/1. (PMID:30384889)
- Right ventricular dilatation (HP:0005133): Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. Evidence: PCS. Frequency: 2/2. (PMID:36672924)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:36672924)
- Left bundle branch block (HP:0011713): A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. Evidence: PCS. Frequency: 1/1. (PMID:33534821)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/1. (PMID:36815016)
- Systolic heart murmur (HP:0031664): A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. Evidence: PCS. Frequency: 1/1. (PMID:36815016)
- Moderately reduced left ventricular ejection fraction (HP:0012665): A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent. Evidence: PCS. Frequency: 3/6. (PMID:36815016;PMID:33534821)
- Orthopnea (HP:0012764): A sensation of breathlessness in the recumbent position, relieved by sitting or standing. Evidence: PCS. Frequency: 1/1. (PMID:36815016)
- Severely reduced left ventricular ejection fraction (HP:0012666): 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. Evidence: PCS. Frequency: 6/8. (PMID:28611399;PMID:36672924;PMID:33534821;PMID:30384889)
- Myocardial late gadolinium enhancement (HP:4000004): Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. Evidence: PCS. Frequency: 1/1. (PMID:33534821)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: PCS. Frequency: 2/2. (PMID:28611399;PMID:36815016)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/10. (PMID:36672924;PMID:36815016;PMID:30384889;PMID:33534821)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/7. (PMID:28611399;PMID:33534821)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: PCS. Frequency: 1/1. (PMID:28611399)
- Dilated cardiomyopathy (HP:0001644): 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. Evidence: PCS. Frequency: 14/14. (PMID:36672924;PMID:33534821;PMID:30384889)
- Low-output congestive heart failure (HP:0009805): A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. Evidence: PCS. Frequency: 1/1. (PMID:28611399)
- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: PCS. Frequency: 1/1. (PMID:30384889)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/6. (PMID:33534821)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: PCS. Frequency: 1/1. (PMID:36815016)
- Respiratory tract infection (HP:0011947): An infection of the upper or lower respiratory tract. Evidence: PCS. Frequency: 1/1. (PMID:36672924)
- Left ventricular noncompaction (HP:0030682): Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. Evidence: PCS. Frequency: 1/1. (PMID:36815016)
- Decreased cardiac output (HP:0033532): A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. Evidence: PCS. Frequency: 1/1. (PMID:36672924)
- Left ventricular dilatation (HP:4000141): Enlargement of the chamber of the left heart ventricle. Evidence: PCS. Frequency: 2/2. (PMID:36672924)
- Prolonged QTc interval (HP:0005184): A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. Evidence: PCS. Frequency: 1/1. (PMID:28611399)
- Sinus tachycardia (HP:0011703): Heart rate of greater than 100 beats per minute. Evidence: PCS. Frequency: 1/1. (PMID:36815016)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:36815016)
- Increased left ventricular end-diastolic volume (HP:0033755): Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). Evidence: PCS. Frequency: 2/2. (PMID:28611399;PMID:30384889)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 2/2. (PMID:36672924;PMID:36815016)
- Elevated left ventricular end-diastolic diameter (HP:0034307): The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae. Evidence: PCS. Frequency: 4/4. (PMID:33534821)
- Elevated circulating NT-proBNP concentration (HP:0031185): The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:28611399)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:36815016)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. Frequency: 4/4. (PMID:36672924;PMID:36815016;PMID:33534821)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28611399)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: 4/4. (PMID:28611399;PMID:36672924;PMID:36815016)