| HPO |
HP:0001639 |
Hypertrophic cardiomyopathy |
"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality." [PMID:17916581] |
— |
HP:0001638 |
| HPO |
HP:0001640 |
Cardiomegaly |
"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." [HPO:probinson, PMID:31194436] |
— |
HP:0001627 |
| HPO |
HP:0001641 |
Abnormal pulmonary valve morphology |
"Any structural abnormality of the pulmonary valve." [HPO:probinson] |
— |
HP:0001654 |
| HPO |
HP:0001642 |
Pulmonic stenosis |
"A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] |
Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. |
HP:0031654 |
| HPO |
HP:0001643 |
Patent ductus arteriosus |
"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." [HPO:probinson, PMID:20421261] |
— |
HP:0011603 |
| HPO |
HP:0001644 |
Dilated cardiomyopathy |
"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [PMID:17916581] |
— |
HP:0001638 |
| HPO |
HP:0001645 |
Sudden cardiac death |
"The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [HPO:probinson] |
— |
HP:0001695, HP:0001699 |
| HPO |
HP:0001646 |
Abnormal aortic valve morphology |
"Any abnormality of the aortic valve." [HPO:curators] |
— |
HP:0001654 |
| HPO |
HP:0001647 |
Bicuspid aortic valve |
"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)." [HPO:probinson, PMID:17467434, PMID:24827036] |
A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. |
HP:0031567 |
| HPO |
HP:0001648 |
Cor pulmonale |
"Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle." [HPO:probinson] |
Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. |
HP:0001707 |
| HPO |
HP:0001649 |
Tachycardia |
"A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:probinson] |
— |
HP:0004308 |
| HPO |
HP:0001650 |
Aortic valve stenosis |
"The presence of a stenosis (narrowing) of the aortic valve." [HPO:probinson] |
Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. |
HP:0031652 |
| HPO |
HP:0001651 |
Dextrocardia |
"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [DDD:dbrown, HPO:sdoelken] |
— |
HP:0004307 |
| HPO |
HP:0001653 |
Mitral regurgitation |
"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." [HPO:probinson] |
— |
HP:0031481 |
| HPO |
HP:0001654 |
Abnormal heart valve morphology |
"Any structural abnormality of a cardiac valve." [HPO:probinson] |
— |
HP:0001627 |
| HPO |
HP:0001655 |
Patent foramen ovale |
"Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [DDD:dbrown, HPO:probinson] |
The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. |
HP:0001631 |
| HPO |
HP:0001657 |
Prolonged QT interval |
"Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] |
The QT interval represents electrical depolarization and repolarization of the left and right ventricles. |
HP:0031547 |
| HPO |
HP:0001658 |
Myocardial infarction |
"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [HPO:probinson] |
— |
HP:0033678 |
| HPO |
HP:0001659 |
Aortic regurgitation |
"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:probinson] |
— |
HP:0031652 |
| HPO |
HP:0001660 |
Truncus arteriosus |
"A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [DDD:dbrown, HPO:probinson] |
— |
HP:0011603 |
| HPO |
HP:0001662 |
Bradycardia |
"A slower than normal heart rate (in adults, slower than 60 beats per minute)." [HPO:probinson] |
— |
HP:0011675 |
| HPO |
HP:0001663 |
Ventricular fibrillation |
"Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations." [HPO:probinson] |
— |
HP:0004308 |
| HPO |
HP:0001664 |
Torsade de pointes |
"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [HPO:probinson] |
— |
HP:0004308 |
| HPO |
HP:0001667 |
Right ventricular hypertrophy |
"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." [HPO:probinson] |
— |
HP:0001707, HP:0001714 |
| HPO |
HP:0001669 |
Transposition of the great arteries |
"A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, HPO:probinson, PMID:10798431] |
— |
HP:0011563, HP:0011603 |