Module 11: Cardiovascular Disease Flashcards
Hereditary Heart disease family history red flags
- Heart disease at a young age (men <55, women <65)
- Sudden death in healthy person
- Sudden infant death syndrome
- Fainting
- Exercise intolerance
- Family history of heart issues
Cardiomyopathy
Heart muscle is enlarged, thickened, or rigid
Familial Hypertrophic Cardiomyopathy (HCM)
- Caused by unexplained left ventricular hypertrophy (LVH)
- Mutations for the contractile unit (sarcomere) of the heart muscles
Arrythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
- The muscle in the right ventricle is replaced by fibrous and fatty tissue
- Impaired contractility
- Most autosomal dominant
- PCP2 mutation most common
Vascular Disease
- Disease of the vascular system including the arteries, veins, & lymph vessels
- Affects blood flow
Familial thoracic aortic aneurysms & dissections (TAAD)
- Autosomal dominant
- Seven known genes
What are the major diagnostic criteria for thoracic aortic aneurysms & dissections (TAAD)?
- Presence of dilation or dissection of the thoracic aorta
- Dissection of the descending aorta distal to the subclavian artery
- Positive family history that is not Marfan syndrome or other connective tissue conditions
Marfan Syndrome
- Autosomal dominant
- Fibrillin-1 gene
- Connective tissue disorder
- Causes aortic root dilation
- Causes mitral valve prolapse
Arrrythmias
An abnormal heart rythm
Long QT Syndrome
- Autosomal dominant
- Defect in the ion channel that affects the electrical activity of the heart
- Delay in recharging the heart can cause ventricular tachycardia
- Many have no symptoms until sudden death
Congenital heart disease
- Structure abnormality of the heart
- Multifactorial
- Caused by a single gene
Familial Hypercholesterolemia (FH)
- Autosomal dominant
- Causes issues with metabolizing cholesterol
What is the most likely reason that single car accidents are a red flag for inherited heart disease?
A cardiac medical event could lead to sudden death while driving
What is a family history red flag for hereditary cardiomyopathy?
First-degree relative w/ a heart transplant before 45yrs old
What term describes the finding that some people with familial hypertrophic cardiomyopathy only have heart palpitations and others experience cardiac arrest?
Variable expression
What is a unique red flag for hereditary vascular disease?
Aortic aneurysm
What system is impacted by mutations in the fabrillin-1 gene?
Connective
What is a unique red flag for inherited arrhythmias?
Seizures
What skin finding is associated with familial hypercholesterolemia?
Xanthomas
What is the most common inheritance pattern for the conditions included in our studies of cardiovascular diseases?
Autosomal dominant
