- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: PCS. Frequency: 1/1. (PMID:31517052)
- Myofiber disarray (HP:0031318): A nonparallel arrangement of cardiac myocytes. Evidence: PCS. Frequency: 1/1. (PMID:31517052)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:34888509;PMID:31517052)
- Cardiogenic shock (HP:0030149): Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. Evidence: PCS. Frequency: 1/2. (PMID:34888509)
- Paroxysmal ventricular tachycardia (HP:0004751): Episodes of ventricular tachycardia that have a sudden onset and ending. Evidence: PCS. Frequency: 1/1. (PMID:31517052)
- Complete right bundle branch block (HP:0011712): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: PCS. Frequency: 1/1. (PMID:31517052)
- Multifocal atrial tachycardia (HP:0011701): Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. Evidence: PCS. Frequency: 1/2. (PMID:34888509)
- Myocardial sarcomeric disarray (HP:0031333): A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. Evidence: PCS. Frequency: 1/2. (PMID:34888509)
- Monomorphic ventricular tachycardia (HP:0031676): A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so). Evidence: PCS. Frequency: 1/1. (PMID:31517052)
- Increased Z-disc width (HP:0033008): Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). Evidence: PCS. Frequency: 2/3. (PMID:34888509;PMID:31517052)
- Severely reduced left ventricular ejection fraction (HP:0012666): A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. Evidence: PCS. Frequency: 3/3. (PMID:34888509;PMID:31517052)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/2. (PMID:34888509)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: PCS. Frequency: 1/1. (PMID:31517052)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:31517052)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: PCS. Frequency: 1/1. (PMID:31517052)
- 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: PCS. Frequency: 1/1. (PMID:31517052)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:34888509)
- Mitral regurgitation (HP:0001653): 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. Evidence: PCS. Frequency: 1/1. (PMID:31517052)
- 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: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:31517052)
- 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: PCS. Frequency: 2/2. (PMID:34888509)
These phenotypes are associated with the disease cardiomyopathy, dilated, 2G (OMIM:619897).