Phenotypes associated with the disease Heart-hand syndrome, Slovenian type (ORPHA:168796):
- Dilated cardiomyopathy (HP:0001644): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168796)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168796)
- Supraventricular arrhythmia (HP:0005115): A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168796)
- Abnormal atrioventricular conduction (HP:0005150): An impairment of the electrical continuity between the atria and ventricles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168796)
- Arrhythmia (HP:0011675): 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: Very frequent (HP:0040281). (ORPHA:168796)
- Abnormal electrophysiology of sinoatrial node origin (HP:0011702): An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:168796)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:168796)