- Atrial arrhythmia (HP:0001692, a Human Phenotype Ontology term): A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85451)
- Abnormal EKG (HP:0003115, a Human Phenotype Ontology term): Abnormal rhythm of the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85451)
- Cardiac amyloidosis (HP:0030843, a Human Phenotype Ontology term): Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85451)
- Elevated circulating NT-proBNP concentration (HP:0031185, a Human Phenotype Ontology term): The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85451)
- Increased circulating troponin T concentration (HP:0410174, a Human Phenotype Ontology term): An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:85451)
- Hypertrophic cardiomyopathy (HP:0001639, a Human Phenotype Ontology term): 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. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:85451)
- Cardiomegaly (HP:0001640, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:85451)
- Restrictive cardiomyopathy (HP:0001723, a Human Phenotype Ontology term): Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:85451)
- Abnormal atrioventricular conduction (HP:0005150, a Human Phenotype Ontology term): An impairment of the electrical continuity between the atria and ventricles. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:85451)
- Arrhythmia (HP:0011675, a Human Phenotype Ontology term): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:85451)
- Reduced left ventricular ejection fraction (HP:0012664, a Human Phenotype Ontology term): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:85451)
- Stroke (HP:0001297, a Human Phenotype Ontology term): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Congestive heart failure (HP:0001635, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:85451)
- Angina pectoris (HP:0001681, a Human Phenotype Ontology term): Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Left ventricular hypertrophy (HP:0001712, a Human Phenotype Ontology term): Enlargement or increased size of the heart left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Thromboembolism (HP:0001907, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:85451)
- Spinal canal stenosis (HP:0003416, a Human Phenotype Ontology term): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Constrictive median neuropathy (HP:0012185, a Human Phenotype Ontology term): Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Abnormal autonomic nervous system physiology (HP:0012332, a Human Phenotype Ontology term): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Abnormal enteric nervous system morphology (HP:0025028, a Human Phenotype Ontology term): A structural anomaly of nerves of the enteric nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Tendon rupture (HP:0100550, a Human Phenotype Ontology term): Breakage (tear) of a tendon. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:85451)
- Polyneuropathy (HP:0001271, a Human Phenotype Ontology term): A generalized disorder of peripheral nerves. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:85451)
- Aortic valve stenosis (HP:0001650, a Human Phenotype Ontology term): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:85451)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:85451)
These phenotypes are associated with the disease ATTRV122I amyloidosis (ORPHA:85451, an Orphanet rare-disease identifier).