Familial Heart Disease, Is Not An Old Age Disease
With Vazcular – Get "Predictive, Proactive, Preventive & Personalized" care
What is Familial Heart Disease?
Familial heart diseases are inherited conditions that increase a person's risk of developing heart problems — often at a younger age than usual.
They occur because of genetic mutations passed from parents to children that affect the heart's structure, rhythm, or how it processes fats like cholesterol.
Genetic Inheritance
Passed down through families via genetic mutations
Early Onset
Can affect people at younger ages than typical heart disease
Multiple Impacts
Affects heart structure, rhythm, and cholesterol processing
50%
Inheritance risk from affected parent
Types of Familial Heart Diseases
Understanding the different inherited heart conditions and their genetic patterns
Familial Hypertrophic Cardiomyopathy (HCM)
A condition characterised by thickening of the heart muscle, especially the left ventricle.
Can lead to irregular heartbeats, fainting, or sudden cardiac arrest, especially in young athletes.
The main genes involved are MYH7 and MYBPC3.
Usually autosomal dominant, there's a 50% chance a child will inherit it.
Familial Dilated Cardiomyopathy (DCM)
A condition where the heart's main pumping chamber becomes enlarged and weak.
Can lead to heart failure and arrhythmias.
The key genes involved are LMNA, TTN, and MYH7.
Often affects multiple generations.
Familial Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
A disorder where the heart muscle, especially the right ventricle, is replaced by fatty or fibrous tissue.
Can cause life-threatening arrhythmias and sudden cardiac death, particularly during exercise.
The primary genes involved are PKP2, DSP, DSG2, DSC2, and JUP.
Familial Long QT Syndrome (LQTS)
A genetic disorder that affects the heart's electrical system, leading to abnormal heart rhythms.
Can cause fainting, seizures, or sudden cardiac death, especially during exercise or emotional stress.
The main genes involved include KCNQ1, KCNH2, and SCN5A.
Familial Hypercholesterolemia (FH)
A genetic disorder causing very high LDL ("bad") cholesterol from birth.
Cholesterol builds up in arteries early, leading to early heart attacks or stroke.
The key genes involved are LDLR, APOB, and PCSK9.
Affects approximately 1 in 250 people worldwide.
Familial Aortic Aneurysm & Dissection
A condition involving weakening of the aorta (main artery from the heart).
The aorta can enlarge or tear (dissect) — a medical emergency.
The primary genes involved are FBN1 (Marfan syndrome), TGFBR1, and TGFBR2.
What Is Familial Hypercholesterolemia?
Familial Hypercholesterolemia (FH) is a genetic disorder that causes very high levels of LDL cholesterol ("bad" cholesterol) from birth.
It's one of the most common inherited metabolic conditions, and a major cause of early heart disease if left untreated.
High Risk
Cholesterol builds up in arteries early, leading to heart attacks or stroke at young ages
Genetic Cause
Key genes involved: LDLR, APOB, and PCSK9
Common Condition
Affects approximately 1 in 250 people worldwide
Understanding Familial Hypercholesterolemia
Comprehensive information about causes, inheritance, symptoms, and treatment
What Causes FH
FH is caused by mutations in genes responsible for clearing LDL cholesterol:
LDLR gene - Makes LDL receptors
APOB gene - Helps LDL bind to receptors
PCSK9 gene - Regulates LDL receptors
How It's Inherited
FH follows an autosomal dominant pattern:
50% chance
If one parent has FH
Severe form
If both parents have FH
How Common Is It
Heterozygous FH
1:250Homozygous FH
1:160K>90% remain undiagnosed
Symptoms & Signs
Physical clues that can appear:
Xanthomas
Fatty lumps on tendons
Xanthelasmas
Yellowish deposits around eyes
Corneal arcus
Grey-white ring around cornea
Why It's Serious
High LDL from birth causes early plaque buildup:
2-4×
Higher LDL than normal
20×
Higher risk of heart disease
Treatment
FH is manageable with:
Statins
Ezetimibe
PCSK9 inhibitors
Lifestyle changes
Family screening
Start Your Journey With Vazcular
Getting started with our service is quick and straightforward. Follow these three simple steps to receive expert clinical care from the comfort of your home.