1、Heart Muscle Disease: Cardiomyopathy,Laura Wexler, M.D. 558-5575 wexlerlucmail.uc.edu,CaseA 56 year old man comes to your office complaining of three months of progressive fatigue and dyspnea on exertion. Several times in the past month he has awakened from sleep with severe breathlessness and felt
2、a need to sit up in order to breath. He denies any chest pain or pressure. He also has noticed some ankle swelling. He has no past medical history of heart disease, hypertension or diabetes. His family history is negative for heart disease. He does not smoke and drinks alcohol only rarely. He takes
3、no medications.,Physical Exam,BP 105/70, P 98 regular, T 98.6, RR 20 Carotids are low volume with normal upstroke. JVP elevated: 10 cm above the sternal angle. Lungs: Bibasilar rales. Heart: PMI diffuse, palpable at the anterior axillary line.S1 diminished intensity, S2 normal, S3 is present.2/6 hol
4、osystolic murmur at the apex. Abdomen: Liver is enlarged (span 11 cm) and slightly tender to pressure. Positive hepatojugular reflex (+HJR). No ascites. Extremities: Mild edema of both feet and ankles.,Dilated Cardiomyopathy,Dilation of one or both ventricles Globally impaired ventricular systolic f
5、unction: both ventricles or predominantly the left ventricle. Isolated RV cardiomyopathy is rare.,Cardiomyopathies,Diagnostic studies,ECG: NSR at 82 bpm. No specific findings Imaging Chest X-Ray: cardiomegaly and pulmonary congestion. Echocardiogram: Biventricular enlargement and global hypokinesis.
6、 Radionuclide ventriculogram (MUGA): RVEF 30%, LVEF 20%, global hypokinesis. Cardiac cath: contrast left ventriculogram. *,Dilated Cardiomopathy: MUGA,Systolic heart failure,Etiology of dilated cardiomyopathy,Coronary artery disease Idiopathic Hypertensive heart disease Familial/genetic Viral/other
7、infectious agents (HIV) Immune/autoimmune Alcoholic/toxic (cocaine, chemotherapeutic drugs) Infiltrative (hemochromatosis, sarcoidosis, amyloidosis) Post partum,Natural History of Dilated Cardiomyopathy,Congestive heart failure Arrhythmias (Afib, VT) Sudden death Thromboembolism Chest pain,Diagnosis
8、 of Dilated Cardiomyopathy,Exclude other causes of contractile failure(HTN, CAD, valvular disease). Test for specific etiologies ?Percutaneous endomyocardial biopsy,Goals of Therapy in Dilated Cardiomyopathy,Alleviate symptoms of dyspnea Improve exercise tolerance Prevent progressive cardiac dilatio
9、n (remodeling) Prolong survival,CaseA 19 year old college freshman collapses on the basketball court during practice. Despite prompt bystander initiated CPR and the arrival of paramedics within 4 minutes, multiple attempts at defibrillation and prolonged ACLS are unsuccessful and he is pronounced de
10、ad at a nearby hospital. He has no history of ill health, syncope or dizzy spells and never used illicit drugs. What is his autopsy likely to show? *,Cardiomyopathies,Hypertrophic Cardiomyopathy,Left ventricular hypertrophy Myofibrillar disarray Normal or supernormal contractile function Impaired di
11、astolic function: impaired diastolic relaxation and decreased LV compliance,Cardiac physiology,Natural History of Hypertrophic Cardiomyopathy,Dyspnea on exertion Chest pain Syncope Sudden death,Etiology of Hypertrophic Cardiomyopathy,Mutations in sarcomeric contractile protein genes -myosin heavy ch
12、ain, cardiac troponin T and I, -tropomyosin, cardiac myosin binding protein C, essential light chain, myosin regulatory light chain Familial (autosomal dominant with variable penetrance) or sporadic Some mutations are associated with particularly high risk of sudden death,Diagnosis: Physical Finding
13、s in Hypertrophic Cardiomyopathy,JVP: Prominent “a” wave PMI: LV heave, double apical impulse (palpable “a” wave) Heart sounds: Loud S4,Diagnostic Tests in Hypertrophic Cardiomyopathy,ECG: LVH with “strain” pattern Chest Xray: Usually normal Imaging: EchocardiogramRadionuclide ventriculogramContrast
14、 left ventriculogram,ECG: LVH with “strain” pattern,Hypertrophic Cardiomyopathy,Hypertrophic cardiomyopathy *,Hypertrophic obstructive cardiomyopathy,Hypertrophic Obstructive Cardiomyopathy (HOCM) aka Idiopathic Hypertrophic Subaortic Stenosis - (IHSS),Asymmetric septal hypertrophy Dynamic systolic
15、obstruction of left ventricular outflow: apposition of the bulging septum and the anterior leaflet of the mitral valve,Hypertrophic obstructive cardiomyopathy,Physical Exam in HOCM,Brisk early carotid impulse “Triple ripple” PMI: palpable “a” wave, followed by double systolic impulse “Dynamic” systo
16、lic ejection murmur: changes with changes in LV volume or contractility.,Dynamic murmur of HOCM,Smaller LV volume brings septum closer to anterior MV leaflet: more obstruction and louder murmur. Larger LV volume separates upper septum from anterior MV leaflet: less obstruction and softer murmur.,How
17、 to alter LV volume,Increase LV volume Squatting Passive leg lifting Slow heart rate IV volume infusion,Decrease LV volume Stand (after squatting) Valsalva maneuver Increase heart rate Amyl nitrate Volume depletion,Hypertrophic Cardiomyopathy: Management,Predict risk of sudden death:Early age at pre
18、sentationPositive family historyMassive hypertrophy: LV 35 mmSyncopeNon-sustained VT on HolterGenetic typing Prevent sudden deathInternal cardiac defibrillator (ICD),Hypertrophic Cardiomyopathy: management,Enhance impaired LV diastolic function (improve filling)Slow heart rateMaintain normal sinus r
19、hythmDrugs to enhance myocardial relaxationReduce obstruction caused by septal/mitral valve apposition:Avoid dehydration and vasodilatorsNegative inotropic drugs (beta blockers, disopyramide)Surgical septal myectomyDual chamber (atrial and ventricular) pacemaker,Hypertrophic cardiomyopathy: pathophy
20、siology,Restrictive Cardiomyopathy,Abnormally stiff myocardium:Fibrosis, infiltration, idiopathic Impaired diastolic function (Usually) preserved systolic function,Restrictive Cardiomyopathy,Pathophysiology Impaired biventricular filling Elevated right and left atrial pressures Symptoms: Dyspnea, ex
21、ercise intolerance Signs Increased JVP (large a wave), edema, ascites Increase JVP with inspiration (Kussmauls sign),Restrictive Cardiomyopathy,Diagnosis:Cardiac catheterization: Restricted filling pattern during diastoleRV biopsy,Restrictive physiology,Dynamic outflow gradient: IHSS,Restrictive Cardiomyopathy: Pathophysiology,
