- Decreased circulating NT-proANP concentration (HP:6000693): The concentration of NT-proANP (= N-terminal proatrial natriuretic peptide) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:37913506)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/2. (PMID:37913506)
- Left atrial fibrosis (HP:6000691): Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins. Evidence: PCS. Frequency: 2/2. (PMID:37913506)
- Left atrial enlargement (HP:0031295): Increase in size of the left atrium. Evidence: PCS. Frequency: 2/2. (PMID:37913506)
- Atrial fibrillation (HP:0005110): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: PCS. Frequency: 1/2. (PMID:37913506)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 2/2. (PMID:37913506)
- 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:37913506)
- Atrial flutter (HP:0004749): A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. Evidence: PCS. Frequency: 1/2. (PMID:37913506)
- Increased circulating brain natriuretic peptide concentration (HP:0033534): An increased concentration of brain natriuretic peptide in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:37913506)
- Reduced left ventricular ejection fraction (HP:0012664): A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. Evidence: PCS. Frequency: 0/2. (PMID:37913506)
These phenotypes are associated with the disease cardiomyopathy, familial hypertrophic, 30, atrial (OMIM:620734).