- 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:111)
- Endocardial fibroelastosis (HP:0001706): Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:111)
- Abnormality of neutrophils (HP:0001874): A neutrophil abnormality. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:111)
- Abnormal mitochondrial morphology (HP:0008322): Any structural anomaly of the mitochondria. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:111)
These phenotypes are associated with the disease Barth syndrome (ORPHA:111).