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Cardiomyopathy

Diseases Myocardial

Cardiomyopathy refers to a clinical disease that involves the muscles of the heart. Cardiomyopathy usually causes the heart muscles to grow thicker, and more rigid than the normal myocardium. The progressive scarring of the heart muscle may sometimes replace the physiologic role of the normal myocardium.


Presentation

Patients diagnosed with Restrictive Cardiomyopathy will present with the following signs and symptoms:

Patients diagnosed with Dilated Cardiomyopathy will present with the following signs and symptoms:

Majority of patients with Hypertrophic Cardiomyopathy (HCM) are asymptomatic. The following symptomatology may be seen in patients with HCM:

Dyspnea
  • Symptoms: Patients with cardiomyopathy will typically present with dyspnea, orthopnea, paroxysmal nocturnal dyspnea, bilateral edema, and fatigue.[symptoma.com]
  • However, after 10 infusions the patient developed dyspnea, edema of the legs, ascites and a weight gain of 10 kg because of a decompensated heart insufficiency with a reduced ejection fraction from formerly 48%-50% to 15%.[ncbi.nlm.nih.gov]
  • The obstructive type is also notable for signs of reduced blood flow ( dyspnea , vertigo , syncope ).[amboss.com]
  • Symptoms of heart failure may include shortness of breath, fatigue, cough, orthopnea, paroxysmal nocturnal dyspnea, and edema. This presentation is common in patients with dilated cardiomyopathy.[aafp.org]
Pleural Effusion
  • Associated pleural effusions may also be seen.[radiopaedia.org]
  • Some patients will also have pleural effusions detected by decreased breath sounds at the bases and dullness to percussion. Women with cardiomyopathy not due to a viral cause will be afebrile.[clinicaladvisor.com]
  • Common abnormalities seen on the chest radiograph include cardiomegaly, interstitial edema, pleural effusion(s), and evidence of previous sternotomy (sternal wires).[clevelandclinicmeded.com]
Exertional Dyspnea
  • dyspnea , a feeling of pressure in the chest Later stages Progressive left heart failure and right heart failure Relative mitral valve regurgitation Complications References: [2] [3] [4] [5] Hypertrophic cardiomyopathy Epidemiology Prevalence : 200/100,000[amboss.com]
  • dyspnea, angina, syncope, sudden death Systolic murmur mitral regurgitation murmur, S 4 Bifid carotid pulse with a brisk upstroke and rapid downstroke Exertional dyspnea and fatigue LV RV failure Functional AV valve regurgitation ECG Nonspecific ST-[merckmanuals.com]
Rales
  • Classical symptoms of congestive heart failure and physical findings of tachycardia, tachypnea, rales in the lung bases and jugular venous distention make a diagnosis of cardiomyopathy or other heart disease likely.[clinicaladvisor.com]
Tachypnea
  • Classical symptoms of congestive heart failure and physical findings of tachycardia, tachypnea, rales in the lung bases and jugular venous distention make a diagnosis of cardiomyopathy or other heart disease likely.[clinicaladvisor.com]
Fatigue
  • Symptoms: Patients with cardiomyopathy will typically present with dyspnea, orthopnea, paroxysmal nocturnal dyspnea, bilateral edema, and fatigue.[symptoma.com]
  • Symptoms of DCM can occur at any age and may include: Heart failure symptoms ( shortness of breath and fatigue ). Swelling of the lower extremities. Fatigue (feeling overly tired). Weight gain .[medicinenet.com]
  • If you have HCM, symptoms may include: Shortness of Breath Chest Pain Lightheadedness Fatigue Fainting Fast Heartbeat Sudden Cardiac Death Although hypertrophic cardiomyopathy is common (about 1 in 500 people have it), it affects each person differently[emoryhealthcare.org]
  • Persons with cardiomyopathy frequently retain excess fluid, resulting in congestion of the lungs, and have symptoms of weakness, fatigue, and shortness of breath. Sometimes they develop a potentially fatal arrhythmia , or abnormal heart rhythm.[britannica.com]
Amyloidosis
  • It can occur with amyloidosis or hemochromatosis, and other conditions. This is the least common type. How common is cardiomyopathy? Cardiomyopathy often goes undiagnosed, 5 so the numbers can vary.[cdc.gov]
  • […] that inflame the heart Iron buildup in your heart muscle (hemochromatosis) A condition that causes inflammation and can cause lumps of cells to grow in the heart and other organs (sarcoidosis) A disorder that causes the buildup of abnormal proteins (amyloidosis[mayoclinic.org]
  • Restrictive cardiomyopathy - Amyloidosis The most common cause of restrictive cardiomyopathy is amyloidosis [20].[radiologyassistant.nl]
  • In this case the abnormality is caused by the presence of fibrous (scar) tissue introduced by a disease such as amyloidosis . Patients display many of the symptoms of hypertrophic cardiomyopathy.[britannica.com]
Congestive Heart Failure
  • Unfortunately, some women never recover and go on to develop chronic congestive heart failure with a death rate of 85% within five years.[womensheart.org]
  • The three common cardiomyopathies are: Dilated cardiomyopathy : This results in left ventricular systolic dysfunction and clinical manifestations of congestive heart failure.[healio.com]
  • The progressive stretch of the heart’s myocardium reduces the volume of the cardiac output contributing to the development of congestive heart failure.[symptoma.com]
  • The goal of treatment is to control or prevent congestive heart failure, improve heart function and prevent complications, such as arrhythmias and blood clots.[ucsfbenioffchildrens.org]
  • Approximately 45% will experience symptoms of congestive heart failure and the mortality rate is about 20%.[clinicaladvisor.com]
Pallor
  • Affected individuals may also experience excessive sweating, fatigue, wheezing, and paleness of the skin (pallor).[rarediseases.org]
Heart Disease
  • Our patient is a 21-year-old woman with cardiac transplant performed owing to right ventricular failure in congenital heart disease.[ncbi.nlm.nih.gov]
  • Roughly one in every four deaths in the U.S. each year is due to heart disease, making it the leading cause of death for Americans.[massgeneral.org]
  • Causing 25% of the deaths due to heart diseases in the same African regions. Dilated cardiomyopathy can affect patients at any age but symptoms usually surface in the third and fourth decade of life.[symptoma.com]
Chest Pain
  • The typical symptoms of stress cardiomyopathy include sudden-onset chest pain and breathlessness or collapse as well as classical symptoms of cardiovascular disease; however, rare reports have described nervous system symptoms as the initial manifestation[ncbi.nlm.nih.gov]
  • What Conditions Are Associated with Chest Pain? There are numerous conditions associated with chest pain. The following is only a small list of conditions that may lead to chest pain.[emedicinehealth.com]
  • Medications such as beta blockers, calcium channel blockers and diuretics may improve or alleviate chest pain, shortness of breath or palpitations. Most people with hypertrophic cardiomyopathy live a normal lifespan.[barnesjewish.org]
Palpitations
  • At a clinic visit 5 months later, she had received no ICD shocks and reported no symptoms of severe palpitations.[nejm.org]
  • Palpitation Palpitation is an uncomfortable awareness of the heart beat. People may occasionally feel an extra beat or a skipped beat and this is usually normal. Sometimes an awareness of the heart beating does suggest and irregular heart rhythm.[ineaia.tripod.com]
  • Exercise testing Used for risk assessment and evaluation of LVOT Treadmill or bicycle exercise test Clinical observation for development of symptoms (e.g., dyspnea , palpitations ) Blood pressure monitoring , ECG , and echocardiography Additional diagnostic[amboss.com]
  • Illustration depicting the difference between a normal heart and hypertrophic cardiomyopathy Symptoms include shortness of breath, chest discomfort, palpitations, fatigue, dizziness or passing out.[barnesjewish.org]
  • Patients diagnosed with Restrictive Cardiomyopathy will present with the following signs and symptoms: Shortness of breath Exercise intolerance Chronic fatigue Paroxysmal Nocturnal Dyspnea (PND) Abdominal distention Bilateral peripheral edema Palpitation[symptoma.com]
Tachycardia
  • Most common mode of presentation was ventricular tachycardia (VT). Two patients had left ventricular (LV) systolic dysfunction. One patient had a splice site mutation in exon 12 of PKP2 gene and one patient died during follow-up.[ncbi.nlm.nih.gov]
  • Case 2 presented isolated LVNC with nonsustained ventricle tachycardia. A cesarean section was performed at 36 weeks' gestation because of placenta previa. Case 3 presented dilated LVNC.[ncbi.nlm.nih.gov]
  • ., and Gustav Eles, D.O. 1 Citing Article A 68-year-old woman presented with symptoms of palpitations and was found to have frequent premature ventricular contractions and nonsustained ventricular tachycardia.[nejm.org]
  • Tachycardia-induced cardiomyopathy Generally, when detected early, this type of cardiomyopathy is reversible once treatment of the tachycardia is successful.[emedicine.medscape.com]
Heart Murmur
  • Show More In some cases, cardiomyopathy is diagnosed when a heart murmur is detected at a routine doctor visit, although children with cardiomyopathy do not always have a heart murmur.[ucsfbenioffchildrens.org]
  • For example, the loudness, timing, and location of a heart murmur may suggest obstructive hypertrophic cardiomyopathy. A "crackling" sound in the lungs may be a sign of heart failure.[nhlbi.nih.gov]
  • Other symptoms include dizziness and lightheadedness, fainting during physical activity, irregular heartbeats, chest pain or heart murmurs.[mplsheart.org]
  • However the most obvious abnormality on physical examination is a heart murmur, which is present in 30 - 40% of patients. Is a CURE available?? At present there is no cure for Hypertrophic Cardiomyopathy.[ineaia.tripod.com]
Hepatomegaly
  • Missense; Gln303Lys LCAD protein Location: Mitochondrial matirx Action: Catalyzes 1st step in mitochondrial β-oxidation of fatty acids Onset: Early childhood Episodes: Associated with fasting Hypoglycemia, Hypoketotic Cardiac arrest Clinical findings Hepatomegaly[neuromuscular.wustl.edu]
  • Additional symptoms may include fluid collection in the abdomen (ascites) and feet due to accumulation of fluid, congestion of the lungs, and an abnormally large liver (hepatomegaly).[rarediseases.org]
Hepatosplenomegaly
  • The acute presentation is characterized by dyspnea, fever, myalgia, hepatosplenomegaly, and myocarditis. Chronic infection involves the esophagus, colon, and heart.[emedicine.medscape.com]
Stroke
  • During a median follow-up of 25.0 17.8 months, the primary end point of HF hospitalization, stroke or death occurred in 35 patients (21%).[ncbi.nlm.nih.gov]
  • Three (7.3%) patients in the metoprolol group and nine (24.3%) patients in the placebo group showed improved stroke volume (P 0.057).[ncbi.nlm.nih.gov]
  • We are reporting a case of acute stroke in a young patient with severe ischaemic cardiomyopathy in the absence of traditional risk factors. After ruling out atherosclerotic disease, his presentation was attributed to synthetic cannabinoid use.[ncbi.nlm.nih.gov]
  • Moreover, clinical and laboratory research shows that cardiac structural damage can occur in the presence of a normal heart, especially in the context of seizures, stroke, and traumatic brain injury or under conditions of psychological stress.[ncbi.nlm.nih.gov]
  • Whereas the pathogenesis of this disorder is not well understood, it usually occurs after an emotional or physical stress such as acute asthma, surgery, chemotherapy, and stroke. However, its occurrence in ileus patients is rarely reported.[ncbi.nlm.nih.gov]

Workup

The following laboratory work up and tests are done to investigate patients with impending cardiomyopathy:

  • Chest X-ray – Chest radiographs will show whether the heart is enlarged.
  • Echocardiography – This makes use of sound waves that determines size and functions of the heart. 
  • Electrocardiogram (ECG) – This diagnostic modality uses chest electrodes to determine the electrical activity of the heart. This can detect abnormal rhythms and enlargement by voltage.
  • Magnetic Resonance Imaging (MRI) – This makes use of magnetic fields and radio waves to determine a more detailed image of the heart [8].
  • Cardiac Catheterization – This procedure makes use of a slender flexible tube inserted in the major vessels to the heart where a sample biopsy of the heart tissue may be taken for laboratory examination.
  • Laboratory tests – blood test like the Beta-type natriuretic peptide (BNP) are tested for elevation due to heart failure which is seen as a common complication of cardiomyopathy. Troponin I may also be used to prognosticate heart failures in cardiomyopathy [9].
Right Bundle Branch Block
  • bundle branch block Echocardiography and/or cardiac MRI Right ventricular enlargement, wall motion abnormalities EF Treatment Avoid intense physical exertion Anti-arrhythmic treatment Pharmacologic: beta blockers (e.g., sotalol ), amiodarone , calcium[amboss.com]
  • Table 4: Diagnostic features of arrhythmogenic right ventricular cardiomyopathy Diagnostic Modality Features Electrocardiography Epsilon waves (slurred ST segments) V 1-3 , inverted T waves V 2 , V 3 *) in absence of right bundle branch block Echocardiography[clevelandclinicmeded.com]
Ventricular Bigeminy
  • Frequent ventricular ectopics and ventricular bigeminy (seen with severe DCM). Ventricular dysrhythmias ( VT / VF ). ECG Examples Example 1 Ischaemic dilated cardiomyopathy: There is marked LVH (S wave in V2 35 mm) with dominant S waves in V1-4.[lifeinthefastlane.com]
T Wave Inversion
  • New electrocardiographic abnormalities either ST-segment elevation and/or T-wave inversion or modest elevation in cardiac troponin level. Absence of pheochromocytoma or myocarditis.[radiologyassistant.nl]
  • EKG abnormalities may include patterns of LVH, left atrial enlargement, prominent Q waves in inferior and lateral leads, and diffuse T-wave inversions.[clinicaladvisor.com]
  • Familial dilated ( CMD3B ) Dystrophin ; Chromosome Xp21.2-p21.1; Recessive CMD : Other Right ventricular dilated (ARVD) cardiomyopathy General Clinical Many arrhythmias well tolerated Common causes of juvenile syncope & sudden death EKG Left branch block T-wave[neuromuscular.wustl.edu]
Myocardial Fibrosis
  • Myocardial fibrosis correlated with systolic function, and patients with poor outcomes had more extensive myocardial fibrosis.[jamanetwork.com]
  • The diabetic heart is characterized by metabolic disturbances that are often accompanied by local inflammation, oxidative stress, myocardial fibrosis, and cardiomyocyte apoptosis.[ncbi.nlm.nih.gov]
  • Positive predictive value (PPV) was significantly higher in Group 3 than in Groups 1 and 2.The diagnostic accuracy of LE on CT for detecting myocardial fibrosis determined by late gadolinium-enhanced MRI was improved with the use of 2nd generation 320[ncbi.nlm.nih.gov]
  • The sarcolemma-localized CtermDys fragment caused myocardial fibrosis, heightened susceptibility to myocardial ischemic injury, and increased mortality during cardiac stress testing in vivo.[stm.sciencemag.org]
  • fibrosis Role in prognosis Differential diagnosis Nuclear imaging Endomyocardial biopsy Laboratory tests Genetic testing and family screening Counselling in probands Methods for molecular genetic screening in probands Indications for genetic testing[escardio.org]
Biventricular Hypertrophy
  • The most common ECG abnormalities are those associated with atrial and ventricular hypertrophy — typically, left sided changes are seen but there may be signs of biatrial or biventricular hypertrophy. Interventricular conduction delays (eg.[lifeinthefastlane.com]
Pleural Effusion
  • Associated pleural effusions may also be seen.[radiopaedia.org]
  • Some patients will also have pleural effusions detected by decreased breath sounds at the bases and dullness to percussion. Women with cardiomyopathy not due to a viral cause will be afebrile.[clinicaladvisor.com]
  • Common abnormalities seen on the chest radiograph include cardiomegaly, interstitial edema, pleural effusion(s), and evidence of previous sternotomy (sternal wires).[clevelandclinicmeded.com]

Treatment

For restrictive cardiomyopathy, therapeutic modalities are focused on the alleviation of the symptoms. Water and salt intake monitoring is paramount to prevent overload. In some case, patients are given diuretics to unload water retention in RCM. When heart failure become progressively worse, cardiac transplant may be the only option for RCM.

Dilated cardiomyopathy are medically treated with Angiotensin converting enzyme inhibitors, Angiotensin receptor blockers, beta blockers, digoxin, and diuretics [10]. A pacemaker may be installed in patients with DCM to synchronize any irregular cardiac rhythm. Hypertrophic cardiomyopathy are given medications to relax the heart muscles like beta blockers and calcium channel blockers. Cardiac surgeries like septal myectomy and septal ablation are some of the surgical options elected to debulk the thickened muscles of the heart.

Prognosis

In both children and adult population the outlook for restrictive cardiomyopathy is generally poor. Most patient progress to low output heart failure which may complicate to thromboembolism or cardiac cirrhosis. There is a higher mortality rate in dilated cardiomyopathy associated with severe congestive heart failure (CHF), male sex, and increasing age. About half of the patients with DCM presenting with CHF will die within the first 5 years from diagnosis [5]. Although patients with DCM having mild CHF carries a brighter outlook. Hypertrophic cardiomyopathy carries the best prognosis with only 1-3% mortality rating [6]. Majority of the mortality seen in HCM is due to sudden death caused by ventricular tachycardia and fibrillation. Morbidity and mortality improves with early diagnosis and intervention of the HCM disease [7].

Etiology

In the majority of cases of cardiomyopathy, the etiologic causation is often times unknown. The following pre-morbid causes has been implicated as the most common identifiable causes of cardiomyopathy in clinical practice:

Epidemiology

In the world wide scale, the reported incidence of cardiomyopathy is up to 400,000 to 550,000 diagnosed cases per annum prevailing in up to 5 million people. In the United States, the most common form of restrictive myocarditis is the idiopathic type. The prevalence of endomyocardial fibrosis (EMF) abounds in the subtropical areas of Africa among children and young adults [1]. Causing 25% of the deaths due to heart diseases in the same African regions.

Dilated cardiomyopathy can affect patients at any age but symptoms usually surface in the third and fourth decade of life. Hypertrophic cardiomyopathy (HCM) represents 0.5% of patient brought in for diagnostic echocardiography [2]. The worldwide prevalence rate of HCM is only 50 to 200 cases per 100,000 population [3]. HCM has a slight male predilection over the female population with a peak mean age of occurrence at the third decade of life. Although in the adult population, the majority of the diagnosed cases HCM are within the 30’s to 60’s age range.

Sex distribution
Age distribution

Pathophysiology

In restrictive cardiomyopathy (RCM), the stiffness in the myocardium can give rise to an increased intra ventricular pressure even in the light of a smaller stroke volume [4]. The restrictive effect on the ventricular volume can lead to diastolic heart failure because of the progressive loss of stroke volume due to the muscular restriction. Fibrotic changes in the heart muscles can cause cardiac scarring on the heart surface and cause bundle branch block in the electrophysiology of the heart.

In the dilated cardiomyopathy cases, the ventricle begins to enlarge due to the chronic left ventricular failure causing both systolic and diastolic type of heart failures. The progressive stretch of the heart’s myocardium reduces the volume of the cardiac output contributing to the development of congestive heart failure. The progressive dilatation of the ventricles can lead to the development of an acquired tricuspid and mitral valve regurgitation defects.

The progressive hypertrophy of the heart muscles in hypertrophic cardiomyopathy increases the pressure gradient in the outflow tracts of the circulating blood. Mitral valve dysfunction happens in hypertrophic cardiomyopathy when the hypertrophy involves the heart papillary muscles and the muscular septal hypertrophy displacing the outflow tract of the mitral valve. The thickening of the heart muscles can also impair the calcium channel physiology.

Prevention

In most cases, cardiomyopathy could not be prevented. Patients can only modify some activities that may result in heart failure with cardiomyopathy like abstaining from alcohol or recreational drugs. A balanced diet with adequate vitamins and minerals can actively prevent heart failure in some cases of cardiomyopathies.

Summary

Cardiomyopathy is a general term given to abnormal heart muscles. Clinically, there are basically three types of cardiomyopathies: Restrictive, Dilated, and Hypertrophic cardiomyopathy. This abnormalities seen in the heart muscles retards the normal delivery of blood throughout the organ systems of the body. Cardiomyopathy can progress to serious heart failure if left untreated. Treatment approaches to cardiomyopathy grossly depends on the type and could be therapeutically corrected by either surgical or medical means.

Patient Information

  • Definition: Cardiomyopathy refers to any clinical disease that involves the muscles of the heart that results in the alteration in the shape and size of the myocardium.
  • Cause: A number of pre-morbid causes can give rise to cardiomyopathy like hypertension, thyroid diseases, diabetes, cardiac scarring, and viral infections.
  • Symptoms: Patients with cardiomyopathy will typically present with dyspnea, orthopnea, paroxysmal nocturnal dyspnea, bilateral edema, and fatigue.
  • Diagnosis: Cardiomyopathy work up includes: Chest X-ray, ECG, MRI, Echocardiography, blood tests, and cardiac catheterizations.
  • Treatment and follow-up: Medical treatment of cardiomyopathy includes the usage of beta blocker, digoxin, ACE inhibitors, and calcium channel blockers. Surgical cardiac muscle myectomy and ablation may also be used to debulk the heart. 

References

Article

  1. Braunwald E, Abelmann WH. Atlas of Heart Diseases. Vol 2. 1994:53-61.
  2. Maron BJ, Peterson EE, Maron MS, Peterson JE. Prevalence of hypertrophic cardiomyopathy in an outpatient population referred for echocardiographic study. Am J Cardiol. Mar 15 1994; 73(8):577-80.
  3. Maron BJ, Gardin JM, Flack JM, et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. Aug 15 1995; 92(4):785-9.
  4. Goldstein JA. Differentiation of constrictive pericarditis and restrictive cardiomyopathy. ACC Ed Highlights. Fall 1998; 14-22.
  5. McKee PA, Castelli WP, McNamara PM, Kannel WB. The natural history of congestive heart failure: the Framingham study. N Engl J Med. Dec 23 1971; 285(26):1441-6.
  6. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA. Mar 13 2002; 287(10):1308-20.
  7. DeRose JJ Jr, Banas JS Jr, Winters SL. Current perspectives on sudden cardiac death in hypertrophic cardiomyopathy. Prog Cardiovasc Dis. May-Jun 1994; 36(6):475-84.
  8. Francone M. Role of cardiac magnetic resonance in the evaluation of dilated cardiomyopathy: diagnostic contribution and prognostic significance. ISRN Radiol. 2014; 2014:365404.
  9. La Vecchia L, Mezzena G, Zanolla L, Paccanaro M, Varotto L, Bonanno C, et al. Cardiac troponin I as diagnostic and prognostic marker in severe heart failure. J Heart Lung Transplant. Jul 2000; 19(7):644-52.
  10. Felker GM, Lee KL, Bull DA, Redfield MM, Stevenson LW, Goldsmith SR, et al. Diuretic strategies in patients with acute decompensated heart failure. N Engl J Med. Mar 3 2011; 364(9):797-805.

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Last updated: 2018-06-22 10:15