- Myocarditis (HP:0012819): Inflammation of the myocardium. Evidence: PCS. Frequency: 2/6. (PMID:40409267)
- Fatty replacement of ventricular myocardial tissue (HP:0031317): Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. Evidence: PCS. Frequency: 1/3. (PMID:40409267)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/6. (PMID:40409267)
- Myocardial fibrosis (HP:0001685): Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. Evidence: PCS. Frequency: 2/3. (PMID:40409267)
- Cardiac arrest (HP:0001695): An abrupt loss of heart function. Evidence: PCS. Frequency: 2/5. (PMID:40409267)
- First degree atrioventricular block (HP:0011705): Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. Evidence: PCS. Frequency: 6/6. (PMID:40409267)
- Left ventricular systolic dysfunction (HP:0025169): Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. Evidence: PCS. Frequency: 1/4. (PMID:40409267)
- Ventricular septal hypertrophy (HP:0005144): The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. Evidence: PCS. Frequency: 2/5. (PMID:40409267)
- Second degree atrioventricular block (HP:0011706): An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. Evidence: PCS. Frequency: 1/3. (PMID:40409267)
- Mobitz I atrioventricular block (HP:0011707): Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). Evidence: PCS. Frequency: 2/2. (PMID:40409267)
- Muscular dystrophy (HP:0003560): The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. Evidence: PCS. Frequency: 0/6. (PMID:40409267)
- Atrial fibrillation (HP:0005110): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: PCS. Frequency: 2/5. (PMID:40409267)
- Sinoatrial block (HP:0012723): Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. Evidence: PCS. Frequency: 2/4. (PMID:40409267)
- Monomorphic ventricular tachycardia (HP:0031676): A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so). Evidence: PCS. Frequency: 3/4. (PMID:40409267)
- 2:1 atrioventricular block (HP:0034305): A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex. Evidence: PCS. Frequency: 1/2. (PMID:40409267)
- Hypertrophic cardiomyopathy (HP:0001639): 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. Evidence: PCS. Frequency: 2/6. (PMID:40409267)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/6. (PMID:40409267)
- Premature ventricular contraction (HP:0006682): Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. Evidence: PCS. Frequency: 1/6. (PMID:40409267)
- 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:40409267)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 1/1. (PMID:40409267)
- Atrial flutter (HP:0004749): A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. Evidence: PCS. Frequency: 2/5. (PMID:40409267)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: PCS. Frequency: 2/2. (PMID:40409267)
- 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: 1/3. (PMID:40409267)
- Sinus bradycardia (HP:0001688): Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. Evidence: PCS. Frequency: 1/3. (PMID:40409267)
These phenotypes are associated with the disease cardiac conduction disease with or without cardiomyopathy 2 (OMIM:621367).