- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: PCS. Frequency: 0/7. (PMID:40065010;PMID:18266676)
- 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: 3/7. (PMID:40065010;PMID:32755394)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. Frequency: 0/1. (PMID:18266676)
- 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:40065010)
- Anti-La/SS-B antibody positivity (HP:0032235): The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. Evidence: PCS. Frequency: 1/1. (PMID:40065010)
- 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: 3/3. (PMID:40065010;PMID:32755394)
- 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: 4/4. (PMID:40065010)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/7. (PMID:40065010;PMID:24997722)
- Chest tightness (HP:0031352): An unpleasant sensation of tightness or pressure in the chest. Evidence: PCS. Frequency: 1/1. (PMID:24997722)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 0/8. (PMID:40065010;PMID:32755394;PMID:18266676)
- 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: 1/1. (PMID:18266676)
- Paroxysmal atrial fibrillation (HP:0004757): Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. Evidence: PCS. Frequency: 1/1. (PMID:18266676)
- Sudden cardiac death (HP:0001645): The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). Evidence: PCS. Frequency: 1/1. (PMID:24997722)
- 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: 5/5. (PMID:40065010)
- 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: 1/1. (PMID:24997722)
- Sinus bradycardia (HP:0001688): Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. Evidence: PCS. Frequency: 1/1. (PMID:24997722)
- Supraventricular tachycardia (HP:0004755): Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. Evidence: PCS. Frequency: 1/1. (PMID:40065010)
- Ventricular fibrillation (HP:0001663): Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. Evidence: PCS. Frequency: 1/1. (PMID:32755394)
- Cardiomyocyte hypertrophy (HP:0031319): An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. Evidence: PCS. Frequency: 3/3. (PMID:40065010)
- Decreased RV/TLC ratio (HP:0033773): An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. Evidence: PCS. Frequency: 1/1. (PMID:40065010)
- T-wave inversion (HP:0010872): An inversion of the T-wave (which is normally positive). Evidence: PCS. Frequency: 3/3. (PMID:40065010)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:24997722)
- Joint contracture (HP:0034392): A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. Evidence: PCS. Frequency: 0/1. (PMID:32755394)
- X-linked inheritance (HP:0001417): A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. Evidence: PCS. (PMID:18266676)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: PCS. Frequency: 0/1. (PMID:32755394)
- Interstitial cardiac fibrosis (HP:0031329): A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. Evidence: PCS. Frequency: 3/3. (PMID:40065010)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. Frequency: 1/1. (PMID:18266676)
- Ventricular escape rhythm (HP:0005155): A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). Evidence: PCS. Frequency: 1/1. (PMID:18266676)
- 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: 3/3. (PMID:40065010;PMID:32755394)
- Left anterior fascicular block (HP:0011711): Conduction block in the anterior division of the left bundle branch of the bundle of His. Evidence: PCS. Frequency: 1/1. (PMID:40065010)
- Right atrial enlargement (HP:0030718): Increase in size of the right atrium. Evidence: PCS. Frequency: 4/4. (PMID:40065010;PMID:32755394;PMID:24997722)
- Increased ratio of VWF propeptide to VWF antigen (HP:0040240): An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA. Evidence: PCS. Frequency: 1/1. (PMID:40065010)
- 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: 3/3. (PMID:40065010)
- Abnormal circulating creatine kinase activity (HP:0040081): Any deviation from the normal activity of creatine kinase in the blood circulation. Evidence: PCS. Frequency: 0/5. (PMID:40065010)
- Third degree atrioventricular block (HP:0001709): Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. Evidence: PCS. Frequency: 3/3. (PMID:40065010)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: PCS. Frequency: 8/8. (PMID:40065010;PMID:32755394;PMID:24997722)
- 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:24997722)
- Premature atrial contractions (HP:0006699): A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. Evidence: PCS. Frequency: 1/1. (PMID:18266676)
- Left ventricular apical dyskinesis (HP:6001073): Dyskinesis is used to describe ventricular muscle segments that bulge outside the left ventricular cavity during systole, as opposed to contracting inwards with the rest of the segments. Evidence: PCS. Frequency: 1/1. (PMID:40065010)
- Permanent atrial fibrillation (HP:0004754): Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. Evidence: PCS. Frequency: 1/1. (PMID:18266676)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:18266676)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 0/1. (PMID:18266676)
- Paroxysmal ventricular tachycardia (HP:0004751): Episodes of ventricular tachycardia that have a sudden onset and ending. Evidence: PCS. Frequency: 1/1. (PMID:24997722)
- Sick sinus syndrome (HP:0011704): An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. Evidence: PCS. Frequency: 3/3. (PMID:32755394;PMID:18266676;PMID:24997722)
- Atrial standstill (HP:0025478): Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram. Evidence: PCS. Frequency: 1/1. (PMID:32755394)
- 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: 4/4. (PMID:40065010;PMID:18266676)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 1/1. (PMID:24997722)
- Left ventricular dilatation (HP:4000141): Enlargement of the chamber of the left heart ventricle. Evidence: PCS. Frequency: 6/6. (PMID:40065010)
- Left ventricular noncompaction cardiomyopathy (HP:0011664): Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. Evidence: PCS. Frequency: 1/1. (PMID:32755394)
- 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: 6/6. (PMID:40065010)
- 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: 4/4. (PMID:40065010;PMID:18266676)
These phenotypes are associated with the disease cardiomyopathy, dilated, 3C (OMIM:301163).