- Atrial septal dilatation (HP:0011995): A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1677)
- Right atrial enlargement (HP:0030718): Increase in size of the right atrium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1677)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Right ventricular hypertrophy (HP:0001667): In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Atrioventricular block (HP:0001678): Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Complete heart block with narrow QRS complexes (HP:0005178): A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Abnormal vena cava morphology (HP:0005345): An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Abnormality of the hepatic vasculature (HP:0006707): An abnormality of the hepatic vasculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Arrhythmia (HP:0011675): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Reduced left ventricular ejection fraction (HP:0012664): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Abnormal cardiac ventricular function (HP:0030872): An abnormality of the cardiac ventricular function. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Midsystolic murmur (HP:0031665): A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Holosystolic murmur (HP:0031667): A heart murmur that occurs during the entire systolic phase from S1 to S2. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1677)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1677)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1677)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1677)
- Paroxysmal atrial fibrillation (HP:0004757): Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1677)
- Peripheral edema (HP:0012398): An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1677)
- Abnormal jugular vein morphology (HP:3000042): Any structural abnormality of a jugular vein. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1677)
These phenotypes are associated with the disease Familial idiopathic dilatation of the right atrium (ORPHA:1677).