Traits

Traits linked to ACTC1

actin alpha cardiac muscle 1

The Human Phenotype Ontology links 62 traits to ACTC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Interstitial cardiac fibrosis	Always
Secundum atrial septal defect	Always
Left ventricular systolic dysfunction	Very often (80–99%)
Left-to-right shunt	Very often (80–99%)
Stretched and thinned heart muscle	Very often (80–99%)
Abnormal heart rate	Often (30–79%)
Cardiac failure	Often (30–79%)
Enlarged and thickened heart muscle	Often (30–79%)
Increased left ventricular end-diastolic volume	Often (30–79%)
Palpitations	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Subaortic ventricular septal bulge	Often (30–79%)
Systolic heart murmur	Often (30–79%)
Abnormal left ventricular function	Sometimes (5–29%)
Abnormal mitral valve morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Angina pectoris	Sometimes (5–29%)
Atrial flutter	Sometimes (5–29%)
Bundle branch block	Sometimes (5–29%)
Complete right bundle branch block	Sometimes (5–29%)
Fainting spell	Sometimes (5–29%)
First degree atrioventricular block	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Left anterior fascicular block	Sometimes (5–29%)
Left bundle branch block	Sometimes (5–29%)
Left ventricular hypertrophy	Sometimes (5–29%)
Left ventricular noncompaction	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Sometimes (5–29%)
Restrictive cardiomyopathy	Sometimes (5–29%)
Right ventricular dilatation	Sometimes (5–29%)
ST segment depression	Sometimes (5–29%)
Supraventricular arrhythmia	Sometimes (5–29%)
Supraventricular tachycardia	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Ventricular arrhythmia	Sometimes (5–29%)
Ventricular fibrillation	Sometimes (5–29%)
Ventricular tachycardia	Sometimes (5–29%)
Increased pulmonary vascular resistance	Rarely (1–4%)
Mini stroke	Rarely (1–4%)
Right ventricular failure	Rarely (1–4%)
Stroke	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Orthopnea	Often (30–79%)
Breathing difficulty	Sometimes (5–29%)
Breathing dysregulation	Sometimes (5–29%)
Obstructive lung disease	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG abnormality	Sometimes (5–29%)
Loss of fat tissue in localized area	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)
Fatigue	Often (30–79%)
Chest pain	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Rarely (1–4%)
Recurrent bacterial infections	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Cardiomyocyte hypertrophy	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Thromboembolic stroke	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Fluid accumulation in lower limbs	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ACTC1 and how often each is seen. Find out more at hpo.jax.org.

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