Phenotypes associated with the disease Atrial septal defect, ostium primum type (ORPHA:99106):
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- 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:99106)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Pulmonary artery dilatation (HP:0004927): An abnormal widening of the diameter of the pulmonary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- 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:99106)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Complete right bundle branch block (HP:0011712): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Prolonged PR interval (HP:0012248): Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Abnormal P wave (HP:0031595): Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Third heart sound (HP:0031658): The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Fixed splitting of the second heart sound (HP:0031662): Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Systolic heart murmur (HP:0031664): A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Abnormally loud pulmonic component of the second heart sound (HP:0031687). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99106)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- 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: Occasional (HP:0040283). (ORPHA:99106)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Atrioventricular block (HP:0001678): Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Right-to-left shunt (HP:0001694): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Thromboembolism (HP:0001907): The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- 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: Occasional (HP:0040283). (ORPHA:99106)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Abnormal respiratory system physiology (HP:0002795): Abnormal function of the respiratory system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- 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: Occasional (HP:0040283). (ORPHA:99106)
- Airway obstruction (HP:0006536): Obstruction of conducting airways of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Peripheral edema (HP:0012398): An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Right atrial enlargement (HP:0030718): Increase in size of the right atrium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)
- Clubbing of toes (HP:0100760): Terminal broadening of the toes (distal phalanges of the toes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99106)