2. Definition
The natural death from cardiac causes, heralded
by abrupt loss of consciousness within 1 hour of
the onset of an acute change in cardiovascular
status.
5. Long QT Syndrome
Autosomal Dominate- Romano-Ward
Autosomal Recessive- Jervell and Lange-Nielsen
Acquired
1/10,000
6.
7.
8. Presentation
Palpitations, Presyncope, Syncope, Seizures, or
Cardiac arrest
Asymptomatic prolonged QTc
Referred by family members
Has a predilection for younger patient
14. Brugada Syndrome
Autosomal dominate defect in cardiac Na
channels- variable expression
0.4% US population
Male predominance
Average age of Dx=41
19. Hypertrophic
Cardiomyopathy
defect in the myocardial contractile proteins
HCM is a familial disease
hallmark : myocardial hypertrophy that is
inappropriate, often asymmetrical, and occurs in
the absence of an obvious inciting hypertrophy
stimulus.
31. Diagnosis
History Familial disease by histology
EKG Epsilon waves or QRS 110 ms+ in V1-V3
Biopsy Endomyocardial biopsy with fibrofatty replacement
Severe isolated RV dilatation & dysfunction
Severe segmental dilatation of RV
Localized RV aneurysm (DK)
History Family history of SCD
LBBB VT
Late potentials on SAECG
TWI in V2 & V3 (no rbbb)
Mild isolated global RV dilatation and/or dysfunction
Mild segmental dilatation of RV
Regional RV HK
Echo/MRI
MINOR
Criteria for the Diagnosis of ARVD
MAJOR
Echo/MRI
EKG
2major or 1major + 2minor or 4minor
32. Treatment
ICD:
Class I: History of sustained VT/VF
Class IIa: extensive disease, LV involvement, family
members w/ SCD, syncope
Amiodarone or Sotalol-Class IIA
Ablation-Class IIA
33. Commotio Cordis
SCD due to low-impact precordial trauma
Male predominance, young age
High mortality
Probability related to speed, time, hardness of
object and location of impact
is an unexpected death due to cardiac causes that occurs in a short time period (generally within 1 hour of symptom onset) in a person with known or unknown cardiac disease.
Highest risk between birth and 6months or 45yrs to 75yrs
K chanellopathy
Na chanellopathy
Muscle mass thickness
Deposition of muscle with fat
Sudden force over precordium leading to vt
Aprox 1 in 2500 to 1 in 10,000 w/ genetic LGTs.
JLN-occurrs in around 3-3.5% of kids w/ congenital neuronal deafness-has a more malignant course
As much as 15% of pt w/ “acguired” L QT have and underlying mutation
ACQUIRED:A:DRUGS:1.AMPHETAMINE:COCAINE,EPHEDRINE,2.ANTICHOLERNERGICS:ATROPINE,AMITRIPTYLINE,DIPHENIREHYDRAMINE,ALPRAX,CITRIZINE,3.MACROLIDS:AZITHRO,ERYTHRO,CLARITHROMYCIN B>ELECTROLYTEDISTURBANCE C.HYPOTHERMIA
Autosomal dominat:1 copy of gene sufficient to cause disease,autosomal recessive :2copy of genes necessary to disese develope
Phase 0- rapid depolarization phase- fast sodium channels open-rapid influx of positively charges ion.
Phase 1-closure of fast Na channels O and 1=R and S wave
Phase 2-platue phase-balance between inward mvt of Cal and outward mvt of K,very slow k effulux ..thus channels remain open for prolonged time ..qt prolongation
Phase 3-repolarization phase outward flow of K-T wave
Phase 4-resting membrane potential
blocking/slowing Na influx or K eflux causes a prolongation of the qt interval (Duration of activation and recovery of ventricular myocardium), if prolongation is long enough can get a second excitation phase from myocardium (early after-depolarization) leads to loose of synchronization and arrhythemia
--ankyirin-thought to effect Na channels
FIGure---R-W: Romano-Ward syndrome; J-L-N: Jervell and Lange-Nielsen syndrome with deafness; NR: not reported; HPP: hypokalemia periodic paralysis.* KCNE1 is also referred to as minK; KCNE2 is also referred to as MiRP1 (minK related protein 1). The KvLQT1 gene encodes the alpha-subunit protein of the IKs channel, with the KCNE1 gene encoding the beta- subunit protein of this same channel. The alpha- and beta-subunit proteins combine together to form a cardiac potassium channel expressing the IKs (slowly activating component of delayed rectifier potassium current); Ikr is the rapidly activating component of delayed rectifier potassium current.Amended with permission from Schwartz, PJ, Priori, SG, Napolitano C. Long QT syndrome in Zipes, DP, Jalife, J (Eds.) Cardiac Electrophysiology: From Cell to Bedside. Orlando, Fla: WB Saunders. 1999.
LQT1-account for 40-55% of cases
LQT2- 35-45%
LQT3-8-10%
Others 2-5% each
Pressentation can depend on genetics LGT1-exercise-related events, LQT2-auditory-allarm clocks or phones, LQT3-events at rest or sleep
Seems to afeect younger pt, syncope and SCD unusual in pt older then 40
1 small box =.04sec,1 large box =.2sec,5 large box =1sec
LGT1-broad T wave
LGT2-low-amplitude-bifid T wave
LQT3-long isoelectric segment followed by a narrow tall Twave
10-15% of pt’s w/ acquired LGT have underlying genetics
-provacation with epinephrine for LGT1-give epi and qt increase
To make a definitive diagnosis score of greater than 4 is needed
Long acting BB
Incidence increases in asian populations, first described in asians
Aprox 18% of pt w/ syndrome have gene, variable penetrance
Rarely dx in children
In a normal condition :there is almost simultaneous excitation of endo & epicardium due to N functioning NA channels but in case of brugada action potential is delayed due to slow opening or block in NA channels .leading to a lag b/w endocardium & epicardium aka phase 2 reentry,PHASE 2 WILL BE SHORTNED
Epicardium has shortest AP{high conc. Of ions},endocardium has longest AP
Loss-of-function mutations in this gene lead to a loss of the action potential dome of some epicardial areas of the right ventricle. This results in transmural and epicardial dispersion of repolarizatio
SCD-initial pressentation in aprox 30%,
-Three distinct types of ST segment elevation have been described. In type 1, the ST segment gradually descends to an inverted T wave. In type 2, the T wave is positive or biphasic, and the terminal portion of the ST segment is elevated 1 mm. In type 3, the T wave is positive, and the terminal portion of the ST segment is elevated <1 mm.
Arrows denote the J-wave. Calibrations are given. The EKG patterns can be transient making the dx that much more difficult. –over an 18 month period as many as half of pts will have either a non-diagnostic or normal EKG
Pt’s w/ SCD / VF have aprox 25% chance of a second event w/in 2 yrs
Pt’s pressenting w/ syncope have a six fold increase in SCD above asymptomatic pt
Pt w/ spontaneous type I pattern were three times more likely up to 15% in 2 yrs follow up
TREATMENT IS AICD PLACEMENT OR MEDICALLY BY QUINIDINE CLASS 1 ANTIARYTHIMIC {BLOCKE FAST NA CHANNELS}
Prt affected: cardiac troponin T, cardiac troponin I, myosin regulatory chain, myosin essential light chain, cardiac myosin binding protein-C, alpha and beta-cardiac myosin heavy chain, cardiac alpha actin, alpha tropomyosin, and titin.
-more common in men and AA
HCM involves changes in connective tissue elements as well as sarcomere proteins l
disorganized myocyte architecture, including with bizarre-shaped nuclei, widespread interstitial fibrosis .
387 high school age/college age in minnasoata
No good correlation bettwen degree of obstruction and severity of symptoms
-DOE most common syptom >90 of symptomatic pts, 2/2 to diastolic dysfunction, MR, empaired LV emptying
-syncope occurs in 15-25% of pt w/ at least one episode 2/2 to inadequate cardiac out put or ischemia or ventricular barofeflex w/ inappropriate vasodialtion—small chamber size is risk factor
LV wall thickness >=15, with out other causes HTN, AS, differientiate from athlete heart
--Verapamil/bb slow HR and prolong diastoling allowing more filling, decrease 02 demand
--Beatblokcer
--Disopyramide-antiarrythmic and negative iontrop
****use w/ caution vasodilator-nefidipine NTG, ACE, decrease PVR inc gradient
-diuretics decrease preload and—less LV fillling smaller change greater out flow obstruction
===ICD need to be on apropriate medical management and have life exspectancy of a year
+++ETOH septal ablation or surgical myomectomies in pt w/ severe obstruction >50mmhg/ refractory symptoms
fibrofatty replacement of the RV myocardium initially produces typical regional wall motion abnormalities that later become global, producing RV dilation. The tissue replacement can also involve area of the left ventricle (LV) with relative sparing of the septum
-dispite the name in can occur in the LV as well, infact these proteens a poorer prognosis w/ higher incidence of arryhtmia and CHF
--an autosomal dominant form, which is most common, and an autosomal recessive form called Naxos disease, in which ARVD is part of a syndrome including hyperkeratosis of the palms and soles and woolly hair.
--)
. Panel A:Four chamber view cut of the heart specimen showing the trans mural fatty replacement of the right ventricular free wall and the translucent infundibulum. Panel B: Panoramic histologic view of the same heart confirming that the replacement of the myocardium by fat is largely confined to the right ventricle (arrow) and substantially spares the interventricular septum as well as the left ventricular free wall (trichrome Heidenhain x 3).
Palpitations — 67 percent
Syncope — 32 percent
Atypical chest pain — 27 percent
Dyspnea — 11 percent
Signs of Right heart failure are rare, clinical pressentation is usualy arrthymia (50%)/SCD or incidental finding mean age fo dx is 30 10-30
--most common arythemia is monomorphic VT from the RV
Diagnosis- Arrhythmogenic RV dysplasia
1. Epsilon wave: just after the QRS complex
2. T inversion in v 1 to v3
3. Positive QRS in v1 (the classical RBBB pattern is not present in this ecg)
AIVR w/ LBBB morphology
Right sided VT-ARVD vs. Idiopathic Right Ventricular Arrhythmia (IRVA) vs Right Ventricular Outflow Tract (RVOT) tachycardia (70-90%)
--As many as 40 to 50 percent of patients have a normal ECG at presentation [8,31]. However, by six years, virtually all patients with ARVD have one or more of the following findings on ECG during normal sinus rhythm [31]:
The QRS duration is frequently prolonged; this is seen more often in lead V1 than in lead I or V6. This prolongation is consistent with delayed right ventricular activation. A QRS duration greater than 110 msec (0.110 sec) in lead V1 has a sensitivity of only about 50 percent but a very high specificity in patients suspected of having ARVD based upon the above historical features.
There may be a pattern of incomplete or complete right bundle branch block. Epicardial mapping suggests that these patterns are usually due to parietal block (conduction delay in the terminal Purkinje system), rather than to disease of the bundle branch [32]. (See "General principles of asynchronous activation and preexcitation", section on Intraventricular and intramural block).
Thirty percent of patients with ARVD have an epsilon wave that has the appearance of a distinct wave just beyond the QRS complex, particularly in V1 (show ECG 2). This finding represents low amplitude potentials caused by delayed activation of some portion of the RV.
Inversion of T waves in the right precordial leads occurs in one-half of cases presenting with VT (show ECG 3). The extent of T-wave inversion has been correlated with the degree of RV enlargement [33].
Increased QT dispersion, ie, interlead variability of QT intervals, may be seen. (See "QT dispersion: Measurement and interpretation").
A prolonged S wave upstroke has been described. This finding (interval from the nadir of the S wave to the isoelectric baseline 55 msec) has been noted in 91 to 95 percent of ARVD patients who did not have RBBB [7,34].
According to CC registry only 15% survival
Ventricular fibrillation can be triggered by chest wall impact immediately over the heart and occurs most frequently with impact over the center of the left ventricle
--the impact is thought to cause a premature ventricular depolarization at a vulnerable time period
Rca: arises from right cusp of the aortic valve & travels into right arterioventricular groove
Lca: above the left cusp of the aortic valve
--Incidence of any coronary anomaly(variation that occurs in <1% of the population) may be as high as 5.6%, but HD significant anomalies is estimated around .17%
--AFIP studdy of 6.2 mill 18yo recruits in basic training only 21 deaths related to coronary anomalies all were from LAD from R cusp
The subsequent course between the aorta and pulmonary artery to the left ventricle may result in compression of the vessel, myocardial ischemia, and sudden death in both adults and teenagers [3,4]. These complications commonly occur during or immediately after exercise. Exercise leads to expansion of the aortic root and pulmonary trunk, which, in addition to external coronary artery expression, may increase the preexisting angulation of the coronary artery takeoff, reducing the luminal diameter in the proximal portion of the coronary artery [3].
--transient ischemia overtime can lead to myocardial necrosis-fibrosis-foci for arrhytmias
In a small case series of 27pt (italian/US) about 1/3 of pt w/ SCD 2/2 anomolous arteris had-CP, syncope palpitation. Of these about a third had normal stess test/ekg-no abnormal stress test, the symptoms came for anomolouse LCA
Echo is between 80-95% sensitive
Cardiac MRI Sen 88- Spec-100%
All non traumatic SCD in the AF, army, marines or navy between 77-01, occuring during basic training 6.3million soldiers--- found 126 non traumatic, 44 idopathic and 18 non-cardiac
About half of the patients with iditifiable cardiac causes had prodromal, syncope, CP, DOE, palpitaions
BB control HR
Surgery to CABG or unroof intramural portions of vessels
Cardic stent have been use in stonoti origins.