Phenotypes associated with the disease Complete atrioventricular septal defect (ORPHA:1329):
- Complete atrioventricular canal defect (HP:0001674): A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:1329)
- Primum atrial septal defect (HP:0010445): An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:1329)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1329)
- Abnormal EKG (HP:0003115): Abnormal rhythm of the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1329)
- Abnormal cardiac atrium morphology (HP:0005120): Any structural abnormality of a cardiac atrium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1329)
- Left-to-right shunt (HP:0012382): Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1329)
- Displacement of the papillary muscles (HP:0025447): Abnormal location of the insertion of a papillary muscle into the left ventricular wall. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1329)
- Pulmonary venous hypertension (HP:0030950): An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1329)
- Postexertional symptom exacerbation (HP:0030973): Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1329)
- Abnormal atrioventricular valve physiology (HP:0031650): Any functional defect of the mitral or tricuspid valve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1329)
- 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: Very frequent (HP:0040281). (ORPHA:1329)
- 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: Frequent (HP:0040282). (ORPHA:1329)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- 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: Frequent (HP:0040282). (ORPHA:1329)
- 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:1329)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- 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:1329)
- Right ventricular failure (HP:0001708): Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- Intercostal retractions (HP:0030864): A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1329)
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1329)
- 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:1329)
- Elevated pulmonary artery pressure (HP:0004890): An abnormally elevated blood pressure in the circulation of the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1329)
- 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: Occasional (HP:0040283). (ORPHA:1329)
- Crackles (HP:0030830): Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1329)
- Elevated jugular venous pressure (HP:0030848): Increased jugular venous pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1329)
- 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: Occasional (HP:0040283). (ORPHA:1329)
- 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: Occasional (HP:0040283). (ORPHA:1329)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1329)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:1329)