- Pleural effusion (HP:0002202, a Human Phenotype Ontology term): The presence of an excessive amount of fluid in the pleural cavity. Evidence: PCS. Frequency: 1/2. (PMID:33949776;PMID:39183344)
- Fetal ascites (HP:0001791, a Human Phenotype Ontology term): Accumulation of fluid in the peritoneal cavity during the fetal period. Evidence: PCS. Frequency: 2/2. (PMID:35166435)
- Nonimmune hydrops fetalis (HP:0001790, a Human Phenotype Ontology term): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 2/2. (PMID:35166435;PMID:39183344)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:38059363)
- Pulmonic regurgitation (HP:0010444, a Human Phenotype Ontology term): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: PCS. Frequency: 1/1. (PMID:35166435)
- Right atrial enlargement (HP:0030718, a Human Phenotype Ontology term): Increase in size of the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:35166435)
- 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: PCS. Frequency: 0/1. (PMID:33949776)
- Moderately reduced left ventricular ejection fraction (HP:0012665, a Human Phenotype Ontology term): A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Severely reduced left ventricular ejection fraction (HP:0012666, a Human Phenotype Ontology term): 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: 2/2. (PMID:38059363;PMID:39183344)
- Apical hypertrabeculation of the left ventricle (HP:0031195, a Human Phenotype Ontology term): An increased number and density of the trabeculae in the apex (tip) of the left ventricle. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Endocardial fibroelastosis (HP:0001706, a Human Phenotype Ontology term): Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction. Evidence: PCS. Frequency: 1/1. (PMID:35166435)
- Left atrial enlargement (HP:0031295, a Human Phenotype Ontology term): Increase in size of the left atrium. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Reduced systolic function (HP:0006673, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Hydrops fetalis (HP:0001789, a Human Phenotype Ontology term): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: PCS. Frequency: 1/1. (PMID:33949776)
- Tachycardia (HP:0001649, a Human Phenotype Ontology term): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Dilated cardiomyopathy (HP:0001644, a Human Phenotype Ontology term): 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: 4/4. (PMID:38059363;PMID:35166435;PMID:33949776;PMID:39183344)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Fetal pericardial effusion (HP:0025671, a Human Phenotype Ontology term): An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. Evidence: PCS. Frequency: 2/2. (PMID:35166435)
- 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: PCS. Frequency: 3/4. (PMID:35166435;PMID:33949776)
- Ascites (HP:0001541, a Human Phenotype Ontology term): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: PCS. Frequency: 1/1. (PMID:33949776)
- Fetal pleural effusion (HP:0025676, a Human Phenotype Ontology term): Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. Evidence: PCS. Frequency: 2/2. (PMID:35166435)
- Biventricular hypertrophy (HP:0200128, a Human Phenotype Ontology term): Thickening of the heart walls in both ventricles. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 1/2. (PMID:39183344)
- Left ventricular dilatation (HP:4000141, a Human Phenotype Ontology term): Enlargement of the chamber of the left heart ventricle. Evidence: PCS. Frequency: 4/4. (PMID:35166435;PMID:33949776;PMID:39183344)
- Tube feeding (HP:0033454, a Human Phenotype Ontology term): Feeding problem necessitating food and nutrient delivery via a tube. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Absent end-diastolic umbilical artery flow (HP:0034224, a Human Phenotype Ontology term): An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole. Evidence: PCS. Frequency: 2/2. (PMID:35166435)
- Abnormal left ventricular function (HP:0005162, a Human Phenotype Ontology term): Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. Evidence: PCS. Frequency: 1/1. (PMID:33949776)
- Fatigue (HP:0012378, a Human Phenotype Ontology term): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Increased left ventricular end-diastolic volume (HP:0033755, a Human Phenotype Ontology term): Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). Evidence: PCS. Frequency: 1/1. (PMID:35166435)
- Tricuspid regurgitation (HP:0005180, a Human Phenotype Ontology term): 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: 2/2. (PMID:35166435;PMID:39183344)
- Elevated left ventricular end-diastolic diameter (HP:0034307, a Human Phenotype Ontology term): The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae. Evidence: PCS. Frequency: 1/1. (PMID:39183344)
- Third trimester onset (HP:0034197, a Human Phenotype Ontology term): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 2/3. (PMID:33949776;PMID:39183344)
- Second trimester onset (HP:0034198, a Human Phenotype Ontology term): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 4/5. (PMID:35166435;PMID:39183344)
- 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: PCS. Frequency: 1/2. (PMID:33949776;PMID:39183344)
- Decreased fetal movement (HP:0001558, a Human Phenotype Ontology term): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 1/1. (PMID:35166435)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:33949776)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 0/1. (PMID:35166435)
- Mitral regurgitation (HP:0001653, a Human Phenotype Ontology term): 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: 1/2. (PMID:39183344)
These phenotypes are associated with the disease cardiomyopathy, dilated, 2M (OMIM:621261, an entry in Online Mendelian Inheritance in Man).