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Transcript of Cardiovascular system
Genetic Disorders that cause cardiovascular disease
Endocrine Disorders related to Cardiovascular Disease or Genetics
Arrhythmic Right Ventricular Dysplasia
cause of ventricular tachycardia- abnormally fast heart rate starting in the ventricles
the SA node sends off abnormal electrical signals
sudden cardiac death- when electrical system to the heart malfunctions
before 50 yrs of age
predominantly in athletes
caused by mutation of genes that encode desmosal proteins
cell to cell adhesion
anti-arrhythmic drugs available
a complex condition that affects the skin, brain, kidney, and heart.
abnormal growths of heart muscle called rhabdomyosarcomas, may interfere w/ the flow of blood thru the heart
abnormal heart rhythms- irregular heart beat
mutations in one of two genes, TSC1 and TSC2
Single abnormal gene causes Marfan syndrome.
Usually inherited from a parent who is also affected
Autosomal dominant (50% chance any offspring will inherit)
flow of blood from the aorta into the left ventricle
tear in the inner wall of the aorta
Mitral valve prolapse
displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole
aka heart hand syndrome
causes abnormalities of the upper limbs and 75% have heart defects
caused by mutation of the TBX5 gene
atrial septal defect (ASD)
heart defect at birth, caused when the opening in the atria to flow around the lungs while baby is in the womb does not close properly before birth
ventricular septal defect (VSD)
congenital, a hole in the wall that separates the ventricles.
cardiac conduction disease (CCD)
“primary electrical disease” caused by abnormal or absent proteins that produce impulse formation
can be anatomical or histological
caused by a deletion in chromosome 7
heart conditions are seen in approx 80% of pts w/ supravalvular aortic stenosis and other lesions
(SVAS) is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body.
atrial septal defect is seen less commonly (see Holt-Oram Synd)
Nondisjunction Error: 95% of cases occurs when mother's egg cell is formed.
1/3-1/2 of Cases
Atrioventricular Septal Defect
Failure of formation from the endocardial cushions
Ventricular Septal Deficit
1 or more holes in the wall that separates the left and right ventricles
Patent Ductus Arteriosus
Failure of a ductus arteriosus to close in a neonate
Tetralogy of Fallot
Large Ventricular Septal Defect
Right ventricular hypertrophy
An overriding aorta
Trisomy of Chromosome 21
40% of cases of a variety of heart defects, including:
tetralogy of Fallot
See Downs Syndrome
interrupted aortic arch
Gap between ascending and descending thoracic aorta
ventricular septal defect
See Downs Syndrome
Patent truncus arteriosis
Failure of ductus truncus to close in a neonate
Exact mechanisms causing effect is unknown, suspicion lies in migration defects of neural crest tissue.
One of several manifestations of 22q11.2 deletion.
Occurs due to partial deletion of the short chromosomal arm 4p-, or in about 1/2 patients, the complete deletion of 4p16
1 in every 50,000 births, with 2:1 F:M
May be inherited from a parent, may be de novo.
Closure defects: particularly contributing to cardiac septal defects, both atrial and ventricular
Cushing's syndrome (CS)
causes metabolic abnormalities that determine an increased cardiovascular risk not only during the active phase of the disease but also for a long time after cure
Causes premature atherosclerosis, coronary artery disease, heart failure, and stroke.
This is mainly due to metabolic complications, such as metabolic syndrome, but also to vascular and cardiac alterations such as atherosclerosis and cardiac structural and functional changes.
Thyroid hormone has important effects on cardiac muscle, the peripheral circulation, and the sympathetic NS that alter CV hemodynamics in a predictable way in patients with
. The main changes are:
Increases in HR, cardiac contractility, systolic and mean pulmonary artery pressure, cardiac output, diastolic relaxation, and myocardial oxygen consumption
Reductions in systemic vascular resistance and diastolic pressure
The cellular actions of thyroid hormone are mediated by the binding of triiodothyronine (T3) to nuclear receptors. It is T3 and not T4 that is transported into the cardiac myocyte. The subsequent binding of the T3-receptor complexes to DNA regulates the expression of genes, specifically those regulating calcium cycling in the cardiac myocyte
Occur in the GI tract
Account for 2/3 of neuroendocrine gastoenteropancreatic tumors.
Tumors over 1cm and in the jejunum and ileum are more likely to cause carcinoid syndrome.
Tricuspid Valve Regurgitation
Left Heart Lesions
"X-linked recessive inborn error of glycosphingolipid metabolism caused by deficiency of alpha-galactosidase."
One of the most prevalent metabolic storage disease
The gene mutation and enzyme deficiency cause insufficient activity of enzymes necessary for the breakdown of substances that arise from cell turnover.
Most cardiovascular manifestations occur in the fourth decade of the disease
Arrythmias, myocardial infarction, heart failure.
Male homozygotes with atypical manifestations:
Most often asymptomatic, but present late (7th or 8th decade)
Typically present with CV related:
Type 1 diabetes
is caused when pancreatic cells, called beta cells stop producing insulin.
it is an autoimmune disorder in which the body's immune system attacks the pancreatic beta cells and doesn't allow them to produce necessary insulin to decrease blood sugar levels.
A predisposition to develop type 1 diabetes is passed through generations in families, but the inheritance pattern is unknown.
common signs and symptoms of diabetes are polyuria, polyphagia , and polydypsia.
type one diabetes accounts for 5-10 percent of people diagnosed with a type of diabetes.
Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes.
is a condition that is caused by over production of Growth hormone which is produced by the pituitary gland.
usually happens around the time of puberty before the growth plates have closed
It causes excessive growth in height, muscles, and organs, making the child extremely large for age.
The most common cause is a benign tumor of the pituitary gland, which may cause it to make too much GH, but it can be caused by other underlying conditions.
common symptoms are a prominent jaw and forehead, coarse facial features. Children with gigantism may also have flat noses and large heads, lips, or tongues
is from the genetic mutation of the AIP gene which causes a tumor on the pituitary gland.
characterized by the overgrowth of bodily tissues that causes broadening and enlargement of facial features and an increase in the size of the hands and feet
caused by prolonged, excessive secretion of growth hormone
incidence of heart disease is increased, due to enlargement of the heart muscle, functioning of the muscle is impaired (cardiomyopathy). High blood pressure is more common. Some have problems with heart valves. Heart failure may occur if uncontrolled.
Excessive growth of soft tissue, cartilage, and bone in the face, hands, and feet are the most prominent symptoms
aldosterone release is controlled by the renin angiotensin system in the adrenal glands of the kidneys
hyperaldosteronism can be caused by benign adrenal adenomas
high levels of aldosterone cause increased pressure and volume load on the heart which leads to left ventricular hypertrophy
hypertension is the main complication
Anderson Fabry Disease
Renal, Reproductive, or Musculoskeletal Disorders Related to CVD, Genetics, or Endocrine Systems
16 different gene defects have been identified as causing Kallmanns Syndrome. The 16 defects cover all inheritance patterns and make genetic testing extremely difficult.
Part of a group of hypogonadotropic hypogonadism (HH) disorders. Only differentiation is anosmia or hyposmia (total or near total loss of sense of smell).
Primary symptom: failure to start puberty.
Also: lack of testicular development, amenorrhoea, infertility, and poorly defined secondary sexual characteristics.
Absence of LH and FSH due to inability of the hypothalamus to release GnRH hormone, which is the hormone responsible for for inducing LH and FSH production.
3-5 times more common in males then females. Accuracy of this statistic is unknown, could be related to difficulty in diagnosing.
Androgen Insensitivity Syndrome
Formerly known as testicular feminization.
AIS is the result of an Androgen Receptor (AR) mutation, that is typically maternal in inheritance.
Does not significantly impair female genital or sexual development
This mutation causes the cell to be unable to respond to androgens, or the steroid hormone that stimulates or controls the development and/or maintenance of male characteristics.
Three Categories: Complete: with external female genitalia. Mild: with external normal male genitalia. Partial: with external male, but not entirely masculine, genitalia. (Quigley Scale introduced in '95 ranks these terms in degrees of 1-7)
Each AIS category has multiple differential diagnosis. Please see link for list:
aka: benign congenital muscular dystrophy
a rare, slow progressing genetic muscle disorder where the muscle gradually weakens and becomes wasted, this is a collagen related disorder
can appear at any age
mainly affects skeletal muscles
limbs become weak
contractions of ankles, elbows, joints
Mutations in the COL6A1, COL6A2, and COL6A3 genes cause Bethlem myopathy
autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder
autism spectrum disorder that affects girls almost exclusively
mutation in a particular gene on the X chromosome
seems to be genetic, the faulty gene is almost never inherited from the parents. Rather, it's a chance mutation that happens in the girl's own DNA
When boys develop the Rett syndrome mutation, they die shortly after birth
usually discovered in the first two years of life and there is no cure
slowing of head growth and loss of muscle tone are initial symptoms
loses any purposeful use of her hands only wrings or rubs her hands together
social and language skills deteriorate
Walking becomes awkward as girls develop a jerky, stiff-legged gait
Alport's syndrome (AS) is rare; however, it does account for 3% of end-stage renal failure (ESRF) in childhood and is the most common of several types of hereditary nephritis.
Gene frequency is estimated at 1:5,000. Males are more severely affected than females.
Inheritance is variable and may be either:
X-linked dominant - approximately 85%.
Autosomal recessive - approximately 15%.
Autosomal dominant - approximately 1%.
causes haematuric nephritis in nearly 100% of patients
sensorineural deafness occurs in late childhood early adulthood
In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic fluid (polyhydramnios). After birth, the infant is seen to urinate and drink excessively (polyuria, and polydipsia, respectively). Life-threatening dehydration may result if the infant does not receive adequate fluids. About 85% of infants dispose of excess amounts of calcium in the urine (hypercalciuria) and kidneys (nephrocalcinosis), which may lead to kidney stones. In rare occasions, the infant may progress to renal failure.
Patients with classic Bartter syndrome may have symptoms in the first two years of life, but they are usually diagnosed at school age or later. Like infants with the neonatal subtype, patients with classic Bartter syndrome also have polyuria, polydipsia, and a tendency to dehydration, but normal or just slightly increased urinary calcium excretion without the tendency to develop kidney stones. These patients also have vomiting and growth retardation. Kidney function is also normal if the disease is treated, but occasionally patients proceed to end-stage renal failure.
Bartter syndrome is caused by mutations of gene encoding proteins that transport ions across renal cells in the thick ascending limb of the nephron.
Bartter syndromes can be divided into different subtypes based on the genes involved.
Becker Muscular Dystrophy
is sex lined recessive trait on the X chromosome, typically affecting males. ( women are carriers)
is characterized by slow degeneration of the muscle in the pelvic, hip, thigh, and shoulder area.
the degeneration of muscle mass comes from the bodies inability to create adequate amounts of dystrophin.
patients with BMD often develop cardiomyopathy which is a serious heart condition where the muscles around the heart start to deteriorate
BMD usually isnt painful and does not affect bladder or bowel control or sexual function.
Usually occurs in childhood
aka: "Gonadal dysgenesis"
is a genetic, chromosomal abnormality where the X sex chromosome is fully or partially missing. therefore only affecting women and girls.
physical characteristics are short stature, broad chest, webbed necks, heart defects, and some learning defects.
About one-third of girls with Turner syndrome have some malformation of the kidneys. Although these malformations generally don't cause medical problems, they may increase the risk of high blood pressure and urinary tract infections.
females with turner syndrome have gonadal dysfunction. this results in absence of menstrual cycle and ultimately sterility.
treatment for all girls is usually hormone therapy with growth hormone and estrogen.