Phenotypes associated with the disease Laubry-Pezzi syndrome (ORPHA:99094):
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:99094)
- 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: TAS. Frequency: Obligate (HP:0040280). (ORPHA:99094)
- Aortic valve prolapse (HP:0025578): Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99094)
- Abnormal aortic valve cusp morphology (HP:0031567): Any structural anomaly of the aortic valve leaflets. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99094)
- 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:99094)
- 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:99094)
- 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:99094)
- Abnormal coronary artery morphology (HP:0006704): Any structural abnormality of the coronary arteries. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99094)
- Dilatation of the sinus of Valsalva (HP:0011645): Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99094)
- Subarterial ventricular septal defect (HP:0011681): A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99094)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99094)
- Mildly reduced left ventricular ejection fraction (HP:0012663): A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99094)
- Diastolic heart murmur (HP:0031668): A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99094)
- Left ventricular hypertrophy (HP:0001712): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99094)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99094)
- Perimembranous ventricular septal defect (HP:0011682): A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99094)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99094)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99094)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99094)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99094)
- Right ventricular outlet tract obstruction (HP:0001705): An obstruction to the forward flow of blood in the outflow tract of the right ventricle. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99094)
- Elevated pulmonary artery pressure (HP:0004890): An abnormally elevated blood pressure in the circulation of the pulmonary artery. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99094)