Cardiopathies Flashcards
What is the most common valve assoc. w/ valvular disease?
mitral valve
what is the most common valvulopathy?
bicuspid aortic valve
What are the most common causes of calcific aortic stenosis?
atherosclerosis, natural wear & tear assoc. w/ age
congenital bicuspid aortic valve is very prone to calcific deposits; it is caused by an incomplete commissural separation into 3 valves; what is this structure called?
raphe: this is most common location of the calcific deposits
what is the pathogenesis of congenial bicuspid aortic valve?
mutations of the NOTCH1 protein
List the cascade of physiological consequences assoc. w/ calcific aortic stenosis?
obstruction & narrowing - increases pressure gradient - increases LV pressure - leading to LVH - and eventually HF
what are conditions assoc. w/ Mitral valve prolapse (MVP)?
marfan syndrome, EDS, PKD, fragile X syndrome
Describe the morphology of MVP?
dilated LA sugesstive of long-standing valvular insufficiency & volume overload; dysplasia of the fibrosa & spongiosa layers caused by decreased integrity of supporting collagens & proteoglycans
Mitral annular calcification is commonly seen in what populations?
women > 60 yrs.
What is the only cause of acquired mitral stenosis?
rheumatic heart disease
Describe the morphology of MAC?
stony hard ulcerated nodules at the base of the mitral leaflets
Describe the pathogenesis of ARF?
immunological response to strep A. antigens that cross-react w/ host proteins
ARF is most common in what pt. population & how long after the infection does it appear?
ped. pts. b/t 5-15 yrs.; typically appears 10 days to 6-weeks after infection
what dermatological findings are indicative of ARF?
subcutaneous nodules on bony prominences; sydenham chorea (involuntary dancing); erythema marginatum
Describe the different morphological features of ARF?
diffuse inflammation in all 3 layers of the heart: pericarditis, myocarditis, endocarditis; aschoff bodies composed of T & B lymphocytes and activated macrophages called antischlow cells; caterpillar like cells
What is the main valve involved in chronic RHD
mitral valve
Acute infective endocarditis is commonly caused by which pahtogen?
Staphy. A.; worse prognosis
Subacute IE is commonly assoc. w/ what pathogen?
viridans streptococci; better prognosis
What is in almost all cases, going to be found in the PE of a pt. w/ IE?
heart murmurs
What pathogens are pts. most susceptible to 1 to 2 months after placement of a prosthetic valve?
Staphy. A. & epidermidis
What pathogens are pts. most susceptible 1 year after placement of a prosthetic valve?
streptococci
what are the most common sites for IE?
aortic & mitral valves
Describe the morphologies of AIE & SIE?
SIE: large friable vegetations; AIE: extensive cuspal destruction and ring abscess
Describe the different manifestations seen w/ post-IE migratory vegetation
janeway lesions: erythematous lesions seen in terminal vessels of the palms; Roth spots: orbital hemorrhage w/ pale center; nail bed hemorrhages; osler nodes: develop in the pulp of interphalangeal joints
Describe the Etiology of nonbacterial thrombotic endocarditis.
Prerequisites include mucinous adenocarcinomas, sepsis, hyper coagulopathies, endocardial trauma
Describe the pathogenesis of libman-sacks endocarditis
specifically seen in pts. w/ SLE; vegetations seen on valve surface, chordae, or along the endocardium; vegetation caused by immune complex deposition w/ activation of complement
Describe the morphology of Libman-Sacks endocarditis.
intense valvulitis and fibrinoid necrosis; fibrosis, scarring
what is the qualitative definition of HF?
heart unable to pump blood at a rate sufficient to meet metabolic demands
What are the classifications of left-side induced HF?
HFrEF (systolic) HF w/ reduced EF; HFpEF (diastolic): HF w/ preserved EF
What are the criteria for Stage A HF:
pts. w/ assoc. risk factors of CVD but no h/o HF specifically
what is the criteria for Stage B HF:
pts. w/o h/o HF but w/ evidence of a structural heart disease
what is the criteria for stage C HF:
pts. presenting w/ symptoms of HF and h/o similar signs
at what point does HF progress to Stage D?
HF symptoms that interfere w/ daily with recurrent hospitalizations
Define the 4 stages of NYHA classes for HF?
Class 1: asymptomatic; Class 2: mild symptoms & comfortable at rest; Class 3: only comfortable at rest w/ marked decrease in physical activity; stage IV: discomfort even at rest
What are diseases that cause HF?
amyloidosis & sarcoidosis
Overstimulation of what neurohormonal pathways put pts. at increased risk for HF?
Adrenergic nervous system; RAAS; ADH
What would you expect to find on CXR of a pt. presenting w/ left-sided HF?
congestion in the pulmonary veins assoc. w/ orthopnea
Left-sided HF is also referred to as what?
forward heart failure
Right sided HF is also referred to as what?
backward HF3
Right-sided HF is usually always secondary to Left-sided HF; What are its clinical manafestations?
JVD; hepatomegaly; peripheral edema
Besides Left-sided HF, what are some of the other causes of right-sided HF?
pulmonary parenchymal disease including COPD, Interstitial lung disease (eg. sarcoidosis) or chronic lung infections; pulmonary vascular diseases including PE and PHTN; cardiac causes include pulmonic valve stenosis & right ventricular infarction
What are biomarkers for indication of HF and not other pulmonary disease?
BNP & NT proBNP
what is the significance of BNP in the context of HF?
BNP is released from ventricular myocytes when ventricular DBP is raised
What are important factors to consider in the pt’s. history when testing BNP levels?
BNP is naturally lower in obese pts.; And elevated in pts. w/ anemia, renal failure, women, & elderly pts.
what are some distinctions that can be made to determine if it is RVH or LVH?
RVH: amplified QRS complex; both can have inverted T-waves
What can be seen on the CXR of a pt. w/ HF?
kerley lines: interstitial edema
What is the most common acute decompensated HF?
warm & wet
What types of ADHF are assoc. w/ orthopnea, elevated JVP, S3 gallops, & edema?
warm & wet; Cold & wet
Which types of ADHF are not assoc. w/ orthopnea, elevated JVP, S3 gallops, & edema?
warm & dry; Cold & dry
which types of ADHF are assoc. w/ cool extremities & hypotension?
Cold & Dry; Cold & wet
which types of ADHF are not assoc. w/ cool extremities & hypotension?
warm & dry; warm & wet
What would be the most appropriate plan for warm & dry ADHF?
optimization of oral medications
What would be the most appropriate plan for warm & wet ADHF?
pts. w/ this usually present w/ hypervolemic shock so the best plan would be to administer IV diuretics and vasodilators
What would be the most appropriate plan for cold & dry ADHF?
pts. typically present w/ hypoperfusion: treatment for these would be IV fluid, dobutamine, or Inotrope
What would be the most appropriate plan for cold & wet ADHF?
these pts. present w/ both hypoperfusion & hypervolemia: IV diuretics, dobutamine, or inotrope
What are the treatment recommendations for pts. w/ HFpEF assoc. w/ preserved LVEF at > 50%?
diuretics; SGLT2i, ARNi, MRA, ARB
What are the treatment recommendations for pts. w/ HFmrEF assoc. w/ mildly reduced LVEF at 41-49%?
same as for HFpEF with the addition of ACEi, ARNI, & BBs for HFrEF
what are the 3 main types of cardiomyopathies?
Dilated (DCM); Hypertrophic (HCM); Restrictive (RCM)
What are the main effects of DCM?
Frank-Starling forces:
Increased myofiber stretch: Increased end diastolic volume, increased inotropy & increased SV
Neurohormonal activation: decreased CO stimulates SNS to increase HR & inotropy leading to increased CO
RAAS Activation: decreased CO due to decreased renal perfusion will increase renin release; this will increase systemic vascular resistance & increased intravascular volume
Increased Angiotensin II induced by DCM will result in what physiological consequences?
ANT II increases SVR which will increase afterload; when the afterload becomes toO high the LV cannot pump against the increased resistance leading to HF
Increased Aldosterone induced by DCM will result in what physiological consequences?
Aldosterone will increase intravascular volume leading to pulmonary & systemic congestion
chronic elevation of aldosterone and ANT II will eventually cause what?
cardiac remodeling & fibrosis
What PE findings indicate DCM?
low arterial pressure, cool extremities, pulmonary venous congestion (crackles), left & upward displacement of PMI assoc. w/ enlarged heart; S3
If the RV were to fail, what would be possible PE findings?
JVD, hepatomegaly, ascites, peripheral edema
What viruses can cause DCM?
coxsackievirus A & B; adenovirus, CMV, parvovirus B19
Chronic use of what substances can cause DCM?
chronic alcohol ingestion; chronic cocaine use; chemotherapeutic agents
What medical conditions are assoc. w/ DCM?
sarcoidosis; hemochromatosis; muscular dystrophy
List genetic causes of DCM.
TTN gene mutation: reduces cytoskeleton integrity; X-linked DCM: assoc. w/ MD; Mitochondrial gene deletions: problems w/ FA oxidation & oxidative phosphorylation
What parasitic infections can cause DCM?
Trypanosoma cruzi (Chagas Disease); Trichinella spiralis; Toxoplasma gondii; borrealia burgdorferi; corynebacterium diphtheriae
LVH is associated w/ what myocardiopathy?
Hypertrophic cardiomyopathy (HCM)
What physiological consequences are assoc. w/ HCM w/o obstruction?
reduced LV chamber size; decreased LV compliance
Decreased LV compliance will result in what physiological consequences?
decrease in both SV & CO; increased DBP in LV which will cause retrograde blood flow back up into the LA & pulmonary veins
What is the pathophysiology of HCM w/ obstruction?
dysfunction of the Mitral valve leaflets leading to partial blockage of blood flow through the LV and general diastolic dysfunction; results in septal hypertrophy as well and mitral regurgitation may also be present
What are the physiological consequences of having a hypertrophic ventricle?
increased wall stress & O2 demand can lead to angina & focal ischemia; Increased ventricular pressure can result in mitral regurgitation which will further elevate LA & PV pressures
What are the physiological consequences of having a smaller chamber of the LV?
a decrease in this space will naturally move the mitral leaflets & septum closer together resulting in reduced venous return, volume depletion
What are the physiological consequences of having a larger chamber of the LV?
mitral leaflet & septum will become more separated resulting in increased venous return, volume increase
What are some distinctive histological features seen w/ HCM?
ventricular cavity has a “banana like” configuration; haphazard arrangements of myocyte bundles w/ myofibril disarray w/ interstitial fibrosis
What are some of the known mutations that cause Primary HCM that you need to know?
beta-myosin heavy chain (most common); cardiac troponins; myosin binding protein C; alpha-tropomyosin; ALL OF THESE PROTEINS MAKE UP THE SARCOMERE
What insults result from mutated proteins within the sacromere?
contractile impairment increaseS myocyte stress; this will result in compensatory hypertrophy, secretion of GF (leading to myofiber disarray), & fibroblast proliferation (interstitial fibrosis)
What are possible PE findings that would be found for HCM?
S4; if outflow obstruction is present: harsh systolic ejection murmur at left lower sternal border; crescendo, de-crescendo
Describe the pathophysiology of ARVC (AKA arrhythmogenic RV Dysplasia)
genetic: point mutation deletions in genes that encode for desmosomal junctional proteins; loss of myocytes and myocyte replacement w/ fatty tissue and severe thinning of RV wall
What are the symptoms of Naxos syndrome?
ARVC + hyperkeratosis of plantar & palmar surfaces; assoc. w/ mutations in plakoglobin (desmosome-associated protein)
What are the 4 most common types of amyloidosis?
light chain multiple myeloma, diseases of chronic inflammation (type Ab2M assoc. w/ dialysis complications), hereditary & senile are assoc. w/ transthyretin amyloid overproduction
What are distinctive features of the MM type of amyloidosis?
glossomegaly, periorbital purpura
What are findings assoc. w/ wild-type ATTR amyloidosis?
bilateral carpal tunnel syndrome, lumbar spinal stenosis, biceps tendon rutures, small fiber neuropathies, autonomic dysfunction
what is the main organ involved in senile amyloidosis?
the heart
what are histological findings of cardiac amyloidosis?
gross appearance: pale & pallor discoloration; hyaline eosinophilic amyloid plaque deposits in several different layers of the heart
What is the distinctive histochemistry of cardiac amyloidosis?
congo red stain shows salmon pink deposits w/ apple green birefringence upon polarization microscopy
What is the qualitative definition of restrictive cardiomyopathy (RCM)?
decrease in ventricular compliance resulting in impaired ventricular filling during diastole; abnormally rigid but not thickened
What are clinical findings of CHF & RCM?
decreased CO, JVD, peripheral edema, ascites, large liver, pulmonary rales; on CXR: normal-sized heart w/ pulmonary congestion
What is the clinical significance of tropical endomyocardial fibrosis?
most prevalent in children & young adults in Africa & tropical regions; very rare in North America; Characteristics: fibrosis of ventricular endocardium extending from apex to AV valves; pathogenesis: unknown but thought to be due to loeffler endocarditis (eosinophilic endomyocardial fibrosis)
What are the histological findings of Loeffler endomyocarditis?
type of RCM; large mural thrombi, increased blood eosinophils in periphery & multiple organs
What disease is loeffler endomyocarditis assoc. with?
chronic myeloproliferative disorders of PDGFR alpha/beta genes
What do you need to know about endocardial fibroeastosis?
fibroelastic thickening usually of the mural LV endocardium; usually presents within first 2 yrs. of life; assoc. w/ aortic valve obstruction & congenital cardiac anomalies; mutation of tafazzin which affects mitochondrial inner membrane integrity
What is happening during an S2 sound and where can you hear it best?
occurs at beginning of diastole and closure of semilunar valves; louder at base
What is happening during an S1 sound and where can you hear it best?
occurs at beginning of systole: closure of AV valves; louder at apex
describe the process of physiological splitting of S2?
splits w/ inspiration: decreased intrathoracic pressure, increased venous return, increased Blood volume in RV; S2 splits into A2 & P2; A2 is heard before P2 and best heard in pulmonic area
What CVDs can cause wide-splitting of the A2 & P2 sounds?
PHTN; RBBB; pulmonary stenosis
What CVDs cause fixed splitting of A2 & P2?
atrial septal defects
what CVDs cause paradoxical (reversed splitting) of A2 & P2?
aortic stenosis; LBBB
What are the characteristics of grade 1 murmurs?
very faint unusual sounds
What are the characteristics of grade 2 murmurs?
quiet but heard very clearly w/ stethoscope placed on chest
What are the characteristics of grade 3 murmurs?
moderately loud
What are the characteristics of grade 4 murmurs?
loud w palpable thrill
What are the characteristics of grade 5 murmurs?
grade 4 + heard w/ stethoscope is only partially placed on the chest
What are the characteristics of grade 6 murmurs?
grade 4 + heard w/ stethoscope entirely off the chest
what kind of heart murmur can be heard at the aortic area?
systolic murmur
What are the main causes of systolic murmurs?
aortic stenosis, aortic valve sclerosis
what kind of heart murmur can be heard at the pulmonary area?
systolic ejection murmur
what are common causes of systolic ejection murmurs?
pulmonic stenosis; atrial septal defect
what kind of heart murmur can be heard at the tricuspid area?
holosystolic & diastolic murmurs
what diseases are assoc. w/ holosystolic murmurs?
holosystolic: tricuspid regurgitation, ventricular septal defect; tricuspid stenosis (diastolic)
what kind of heart murmur can be heard at the mitral area?
holosystolic, systolic, & diastolic murmurs
what cardiac dysfunctions are assoc. w/ murmurs heard at the mitral area?
holosystolic: mitral regurgitation; systolic: mitral valve prolapse; diastolic: mitral stenosis
what kind of heart murmur can be heard along the left sternal border?
diastolic & systolic murmurs
what cardiac dysfunctions are assoc. w/ murmurs heard along the left sternal border?
diastolic: aortic or pulmonic regurgitation; systolic: HCM
Right-sided murmurs can be heard the best during which part of respiration?
Inspiration due to increased RV preload
Left-sided murmurs can be heard the best during which part of respiration?
expiration where LV preload will be greatest
Standing reduces the sound of all murmurs except……..
MVP & HOCM
leg raising & squating worsen most murmurs except……..
MVP & HOCM
Hand grip makes what kind of murmurs heard more & herad less?
AFFECTS L-SIDED MURMURS ONLY: worse: mitral & aortic regurgitation, mitral stenosis; Improve: aortic stenosis
List the clinical presentations of aortic stenosis?
crescendo-decrescendo murmur; sound intensity increased when preload is decreased and decreased when afterload is increased; syncope, angina, & dyspnea on exertion; radiates to the carotids
List the clinical presentations of pulmonic stenosis?
c-d murmur; radiates to left shoulder & neck; increasing in intensity w/ inspiration; wide splitting of S2; causes are usually congenital (tetralogy of Fallout & congenital rubella)
List the clinical presentations of a Mitral regurgitation?
blowing; radiates to the left axilla; increased intensity w/ increase in both pre & after loads; Causes: post MI (acute papillary muscle rupture); MVP; infective endocarditis (RHD); LV dilation secondary to HF
List the clinical presentations of MVP?
c-murmur; increased intensity w/ decreased preload; causes: weakening of valve leaflets and/or chordae tendineae w/ leaflets ballooning into the LA; marfan syndrome; myxomatous degeneration
List the clinical presentations of tricuspid regurgitation?
blowing; increased intensity w/ inspiration; causes: PHTN, ebstein’s anomaly, RHD
List the clinical presentations of aortic regurgitation?
blowing w/ d murmur; radiates to apex; increased intensity with increased after & pre load; water hammer pulse, widened pulse pressure; causes: congenital bicuspid aortic valve, aortic root dilation (aneurysm)
List the clinical presentations of pulmonic regurgitation?
blowing w/ d murmur; radiates along left sternal border; increased intensity w/ inspiration; caused mainly by PHTN
List the clinical presentations of mitral stenosis?
NON-RADIATING d murmur w/ opening snap caused by abrupt halt of stiffened leaflets; increased intensity upon expiration & left lateral decubitus; causes: chronic RHD
List the clinical presentations of Tricuspid stenosis?
NO-RADIATING d murmur w/ opening snap; increased intensity w/ inspiration
Why is RA pressure > LA pressure in a developing fetus?
lungs are not being used
neural crest & endocardial cells become what adult structures?
ascending aorta & pulmonary trunk
what is the purpose of the ductus venosus?
bypasses liver (umbilical vein to IVC); umbilical vein supplies O2 & nutrients to the liver
what is the purpose of the foramen ovale:
bypasses lungs (RA to LA)
What is the purpose of the ductus arteriosus?
bypasses lungs (PA to aorta)
What physiological changes happen to the lungs shortly after birth?
lungs expand driving down pulmonary vascular resistance & pressure to increase pulmonary blood flow which will subsequently increase LA pressure
The ductus venosus become what adult structure?
ligamentum venosum
What causes the ductus venosus to close?
clamping of umbilical cord terminates its blood flow leading to closure
The foramen ovale becomes what adult strucutre?
fossa ovalis
what causes the foramen ovale to close?
with increasing LA pressure will cause interatrial septums to fuse
What adult structure does the ductus arteriosus become?
ligamentum arteriosum
what causes the ductus arteriosus to close?
increased O2, decreased PGs
What happens w/ persistent truncus arteriosus?
the aorticopulmonary septum fails to separate the Aorta & PA
What are the clinical hallmarks of DiGeorge Syndrome?
cardiac trunk anomaly (typically tetralogy of fallot or PTA), hypocalcemia (SZ, tremors); absent thymus (immune defects), low set ears, cleft palate, Ch22q11.2 deletion
Transposition of the great vessels results in what?
PA is connected to LV and Aorta is connected to RV; caused by malsprial rotation of aorticopulmonary septum
What is associ. w/ transposition of the great vessles?
Diabetic mom; CXR: narrow mediastinum w/ globular heart
What happens in tricuspid valve atresia?
absence of tricuspid valve and a RA/RV septum instead leading to right atrial dilation
What is the pathophysiology of Tetralogy of Fallot?
anterosuperior displacement of the infundibular septum
What kind of defects can be present in Tetralogy of fallot?
pulmonary artery stenosis leading to RVH; overriding aorta (shifts b/t right & left sides of the heart; ventricular septal defect
what are symptoms of tetralogy of fallot?
exacerbation of RV outflow obstruction during exercise, crying & stress causing R to L shunt and cyanosis; relieved by squatting due to increased SVR and reduced RL shunt, increased pulmonary BF & increased oxygenation
what are the most common causes of tetralogy of fallot?
alcohol exposure in utero, maternal rubella, DeGeorgie syndrome; Down syndrome
What medications can be given to treat tetralogy of fallot?
increased SVR w/ phenylephrine & PG E if PDA is also present
What happens in total anomalous pulmonary venous returen?
pulmonary veins drain into right heart circulation depriving left side of the heart of oxygen
what is the pathophysiology of hypoplastic left heart syndrome?
nonfunctional left side of the heart
What is an Ebstein anomaly?
Displacement of Tricuspid leaflets into RV causing RV pressure to exceed LV pressure leading to a right to left shunt
what teratogen is assoc. w/ ebstein anomaly?
lithium exposure in utero
What is the clinical significance of a Stills murmur?
usually asymptomatic and non-pathologic; murmur sounds musical and vibratory and increases in intensity while laying down
What is a venous hum?
disappears when supine; assoc. w/ venous return to the heart
What are the clinical hallmarks of ASDs?
LR shunt; acyanotic in most cases; loud S1 w/ fixed split of S2; assoc. w/ fetal alcohol syndrome
What are the clinical hallmarks of VSD?
LR shunt; holsystolic murmur; assoc. w/ Down syndrome
What is the pathogenesis of Eisenmenger Syndrome?
result of uncorrected LR shunt over time; volume overload in right side of heart with increased R sided pressure; reversal to a RL shunt & cyanosis
complete atrioventricular septal defects are most assoc. w/ what?
Down syndrome
AV canal & endocardial cushion defects if not corrected can lead to what?
eisenmenger syndrome
Patent Ductus Arteriosus results in what?
LR shunt; assoc. w/ congenital rubella
what medication can be given to correct PDA?
indomethacin (antiPG agent)
Coarctation of the Aorta can result in what LE symtoms?
Claudication; hypotension; absent femoral pulse; cyanosis
coarctation of the aorta can result in what symptoms of the upper body?
berry aneurysm; HF; rib-notching
coarctation of the aorta is assoc. w/ what congenital disease?
bicuspid aortic valve, Turner’s syndrome
Long QT syndrome in infants is assoc. w/ what syndrome?
Sudden Infant death
congential 3rd degree Heart blocks are assoc. w/ what maternal conditions?
SLE; sjogren syndrome; autoimmune injury to fetus by IgG; Anti-SSA/Ro, anti SSB/La
Define vasovagal syncope?
interruption of normal central vasomotor tone leading to arteriolar vasodilation, hypotension, & decreased cerebral perfusion pressure
Vasovagal syncope is most common in what situations?
fasting, anxiety, fright, surprise
Define cardiac syncope?
heart lesions that cause obstruction of L-side BF
what is cardiac syncope commonly assoc. with?
aortic stenosis
what is assoc. w/ arrhythmogenic syncope?
long QT syndrome
Define orthostatic syncope?
failure of vascular compensatory responses to postural changes leading to decrease in BP & cerebral perfusion
orthostatic syncope is most commonly assoc. w/ what?
dehydration
Why is DCM assoc. w/ decreased contractility?
myocyte atrophy of LV
What prescribed drug is known to cause DCM?
Doxorubicin & extasy
HCM is usually asymptomatic so why is it still a serious condition?
HCM is the most common cause of sudden cardiac death typically occurring w/ sport induced arrhythmia
what are the differences b/t DCM, HCM, & RCM?
HCM & RCM are diastolic dysfunctions; DCM is a systolic dysfunction; RCM & DCM have similar features except for RCM, ventricular thickness & volume is normal
kawasaki disease is more prevelant in ped pts. of what race?
asian
What are lab findings of suspected kawasaki disease?
elevated WBC, anemia, thrombocytosis
What occurs for phase 1 of kawasaki disease?
first 2 weeks; acute vasculitis of coronary arteries
What are major concerns for stage 2 kawasaki disease?
2-4 wk. after onset; persistent vasculitis increases risk of aneurysms; thrombosis in coronary arteries
What should be a concern for stage 3 kawasaki disease?
4-8 wk. after onset; inflammation subsides but aneurysms persist
What happens after 8 weeks from onset of kawasaki disease?
stage 4: scar formation, calcification of arteries w/ stenosis & myocardial fibrosis
What are buzz words for different heart defects?
Transposition of vessels: egg on a string; Tetralogy of Fallot: Boot Shaped; TAPVR: snowman
Congenital bicuspid aortic valve is most commonly assoc. w/ what type of murmurs?
Aortic stenosis & regurgitation
RHD & chronic RHD as most commonly assoc. w/ what types of murmurs?
Mitral regurgitation & stenosis
Down syndrome is most commonly assoc. w/ what congenital heart defects and what are some clinical hallmarks of down syndrome?
VSD, ASD; upslanting palpebrate, brachydactyly, single palmar creases
What are some of the clinical hallmarks of Edwards syndrome?
rocker-bottom feet
what are some of the clinical hallmarks of patau syndrome?
holoprosencephaly, polydactyly, midline cleftings, omphalocele
what congenital heart defect is most commonly assoc. w/ turner syndrome?
coarctation of aorta, bicuspid AV
DiGeorge syndrome is most commonly assoc. w/ what congenital heart defect and what are some clinical hallmarks?
80% cases are assoc. w/ tetralogy of fallot; other clinical manifestations: thymic hypoplasia, clefting & hypocalcemia
What is the pathogenesis of Williams syndrome and what are common clinical manafestations?
supravalvular aortic stenosis for 80% of cases; cocktail party personality; hypercalcemia; 7q11.23 microdeletion
What is the most common mutation assoc. w/ noonan syndrome?
PTPN11; autosomal dominant
what are the most common clinical manifestations of noonan syndrome?
pulmonary valve stenosis & HCM; low set ears, downslanting eyes w/ ptosis, triangular face
What is the pathogenesis of CHARGE syndrome and what are common clinical hallmarks?
autosomal dominant CHD7 gene mutations; atresia choanae, retarded growth & development, genital & ear defects
What is the RR for a woman w/ the 22q11.2 microdeletion?
50%
A pediatric pt. w/ disproportionately long limbs, scoliosis and skin striae presents to the clinic. What is the most likely diagonosis?
marfan syndrome
How would your marfanoid DDx change if a bifid uvula was present?
most likely cause would be loeys-dietz syndrome
How would your marfanoid DDx change if a mental impairment was present?
most likely: homocystinuria
How would your marfanoid DDx change if a congenital joint contractures were also noted?
Beal’s syndrome: mutation of fibrillin 2
What drug can be given for a marfan pt. to decrease aortic wall stress?
BBs
what drug can be prescribed to a marfan pt. to slow and prevent progression of HD?
losartan (ARB): inhibition of TGF-B
Vascular EDS is assoc. w/ a defect of which collagen type?
III
Genetic HCM is assoc. w/ defects in what type of proteins and list examples?
sarcomere proteins; ex. include noonan, pompe, & Friedreich’s ataxia
Genetic acquired DCM is assoc. w/ defects in what proteins?
cytoskeletal protein genes
