Phenotypes associated with the disease cardiac valvular dysplasia 2 (OMIM:620067):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- Subvalvular aortic stenosis (HP:0001682): A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- Heart murmur (HP:0030148): An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: PCS. Frequency: 2/4. (PMID:31844321)
- Left ventricular diastolic dysfunction (HP:0025168): Abnormal function of the left ventricule during left ventricular relaxation and filling. Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- Dysplastic aortic valve (HP:0005176): A congenital malformation of the aortic valve characterized by leaflet deformation. Evidence: PCS. Frequency: 2/4. (PMID:31844321)
- Pulmonic regurgitation (HP:0010444): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: PCS. Frequency: 2/4. (PMID:31844321)
- Systolic heart murmur (HP:0031664): A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- Increased left ventricular end-diastolic volume (HP:0033755): Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- 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: PCS. Frequency: 1/4. (PMID:31844321)
- Central cyanosis (HP:0034032): Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin. Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/4. (PMID:31844321)
- Pulmonary artery dilatation (HP:0004927): An abnormal widening of the diameter of the pulmonary artery. Evidence: PCS. Frequency: 2/4. (PMID:31844321)
- Bicuspid aortic valve (HP:0001647): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- 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:31844321)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 1/4. (PMID:31844321)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: PCS. Frequency: 3/4. (PMID:31844321)
- 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: 1/4. (PMID:31844321)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: PCS. Frequency: 4/4. (PMID:31844321)