End Stage Cardiomyopathy – Causes, Symptoms, Diagnosis, Treatment and Ongoing care

Basics

Description

In 1995, the World Health Organization (WHO) defined cardiomyopathy as a “disease of the myocardium associated with cardiac dysfunction.” The WHO proposed a classification system based on pathophysiology. Each class may be caused by many disorders, and some disorders may overlap classes:

  • Classification of cardiomyopathy:
    • Dilated (systolic):
      • Characterized by dilation and reduced systolic function of 1 or both ventricles
    • Hypertrophic (diastolic):
      • Left and/or right ventricular hypertrophy with normal to reduced end diastolic volumes
      • May include asymmetric septal hypertrophy
      • Cause of sudden cardiac death in young athletes
    • Restrictive (diastolic):
      • Restrictive filling and reduced diastolic volume of either or both ventricles
      • Systolic function may be near normal.
      • Etiology: Idiopathic, amyloidosis, etc.
    • Arrhythmogenic right ventricular (RV) dysplasia:
      • Fibrofatty replacement of the RV
      • May present with arrhythmia or sudden cardiac death in the young
    • Unclassified:
      • Cases that do not fit easily into 1 group (i.e., noncompacted myocardium)
    • Specific: Includes patients with cardiomyopathy in association with a known systemic disorder:
      • Ischemic
      • Valvular
      • Hypertensive
      • Inflammatory
      • Metabolic
      • Peripartum
  • End-stage cardiomyopathy patients have stage D heart failure or severe symptoms at rest refractory to standard medical therapy.
  • System(s) affected: Cardiovascular; Renal

Pediatric Considerations

Etiology: Idiopathic, viral, congenital heart disease, and familial

Pregnancy Considerations

May occur in women postpartum

Epidemiology

Predominant age: Ischemic cardiomyopathy is the most common etiology; predominantly patients >50 years. Consider uncommon causes in young.

Incidence

  • 60,000 patients <65 die each year from end-stage heart disease.
  • 35,000–70,000 people might benefit from cardiac transplant or chronic support.

Prevalence

Most rapidly growing form of heart disease

Risk Factors

  • Hypertension
  • Hyperlipidemia
  • Obesity
  • Diabetes mellitus
  • Smoking
  • Physical inactivity
  • Excessive alcohol intake
  • Dietary sodium
  • Obstructive sleep apnea
  • Chemotherapy

Genetics

Hypertrophic, dilated cardiomyopathy, and arrhythmogenic RV dysplasia may present as familial syndromes with autosomal-dominant inheritance.

General Prevention

Reduce salt and water intake; home blood pressure (BP) and daily weight measurement

Etiology

The most frequent causes are in bold:

  • Ischemic heart disease: Most common etiology; up to 66% of patients
  • Hypertension
  • Familial cardiomyopathies
  • Congenital heart disease
  • Peripartum/postpartum
  • Toxic/metabolic causes:
    • Alcoholism
    • Radiation
    • Beriberi
    • Cobalt
    • Selenium deficiency
    • Thyrotoxicosis
  • Infectious causes:
    • Viral (e.g., HIV, Coxsackie virus)
    • Diphtheria
    • Toxoplasmosis
    • Trichinosis
    • Trypanosomiasis
    • Acute rheumatic fever
  • Inherited disorders of metabolism:
    • Glycogen storage disease
    • Pompe disease
    • Hurler syndrome
    • Hunter syndrome
    • Fabry disease
  • Inherited neuromuscular disorders:
    • Duchenne muscular dystrophy
    • Friedreich ataxia
  • Drugs:
    • Chemotherapy: Anthracyclines, cyclophosphamide, Herceptin
  • Inflammatory/infiltrative causes:
    • Giant cell myocarditis
    • Loeffler eosinophilia
    • Sarcoidosis
    • Amyloidosis
    • Hemochromatosis
  • Idiopathic
  • Other causes:
    • Tachycardia-mediated cardiomyopathy
    • Valvular heart disease
    • Endomyocardial fibrosis

Heart failure, Cardiomyopathy, ACE inhibitor, Pulmonary hypertension, asymmetric septal hypertrophy, cardiomyopathy patients, congenital heart disease, sudden cardiac death, myocardium, amyloidosis, cardiomyopathy, cardiac dysfunction, cardiac transplant,

Diagnosis

History

  • Dyspnea at rest or with exertion
  • Paroxysmal nocturnal dyspnea
  • Orthopnea
  • Postprandial dyspnea
  • Right upper quadrant pain or bloating
  • Fatigue
  • Syncope
  • Edema

Physical Exam

  • Tachypnea
  • Low pulse pressure
  • Cool extremities
  • Jugular venous distention
  • Bibasilar rales
  • Tachycardia
  • Displaced point of maximal impulse (PMI)
  • S3 gallop
  • Blowing systolic murmur
  • Hepatosplenomegaly
  • Ascites
  • Edema

Diagnostic Tests & Interpretation

  • Electrocardiogram: Left ventricular (LV) hypertrophy, interventricular conduction delay, atrial fibrillation, evidence of prior Q-wave infarction
  • Cardiopulmonary exercise testing: Maximal oxygen consumption <10 mL/kg/mm correlates with 50% 1-year mortality, and >18 mL/kg/mm correlates with >90% 1-year survival. Used in stable outpatients to estimate prognosis and prior to cardiac transplant referral.

Lab

  • Hyponatremia
  • Prerenal azotemia
  • Anemia
  • Mild elevation in troponin
  • Elevated B-type natriuretic peptide (BNP) or pro-BNP
  • Mild hyperbilirubinemia
  • Elevated liver function tests
  • Elevated uric acid

Imaging

  • Chest radiograph:
    • Cardiomegaly
    • Increased vascular markings to the upper lobes
    • Pleural effusions may or may not be present.
  • Echocardiography:
    • In dilated cardiomyopathy, 4-chamber enlargement and global hypokinesis are present.
    • In hypertrophic cardiomyopathy, severe left ventricular (LV) hypertrophy is present.
    • Segmental contraction abnormalities of the LV are indicative of previous localized myocardial infarction.
  • Cardiac magnetic resonance imaging:
    • May be useful to characterize certain nonischemic cardiomyopathies

Diagnostic Procedures/Surgery

Cardiac catheterization:

  • Helpful to rule out ischemic heart disease
  • Characterize hemodynamic severity
  • Pulmonary artery catheters may be reasonable in patients with refractory heart failure (HF) to help guide management (1)[C].

Differential Diagnosis

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  • Severe pulmonary disease
  • Primary pulmonary hypertension
  • Recurrent pulmonary embolism
  • Constrictive pericarditis
  • Hypothyroidism
  • Some advanced forms of malignancy
  • Anemia
  • Chronic illness

Treatment

See “Congestive Heart Failure” for detailed treatment protocols.

Medication

First Line

  • Systolic failure syndromes:
    • Angiotensin-converting enzyme (ACE) inhibitors:
      • Lisinopril, 5–40 mg/d or captopril, 6.25–50 mg t.i.d. (1)[A]
    • Loop diuretics:
      • May need to be given IV initially and then orally as patient stabilizes
      • Furosemide 40–120 mg/d or t.i.d. (1)[A]
    • β-blockers:
      • Use with caution in acutely decompensated or low cardiac output states.
      • Metoprolol succinate, 12.5–200 mg/d; carvedilol, 3.125–25 mg b.i.d.; or bisoprolol, 1.25–10 mg/d (1)[A]
    • Aldosterone antagonists:
      • Patients with New York Heart Association (NYHA) III-IV congestive heart failure (CHF), ejection fraction (EF) <35%, on standard therapy; spironolactone, 12.5–25 mg/d (2)[A]
    • Digoxin, 0.125–0.250 mg/d for symptomatic patients on standard therapy (1)[A]
  • Diastolic failure:
    • Few evidence-based therapies for diastolic heart failure. Empiric management goals include:
      • Management of hypertension
      • Reduction of congestive states (i.e., diuretics)
      • Prevention of progression of left ventricular hypertrophy (i.e., renin-angiotensin-aldosterone system blockade)
      • Maintenance of sinus rhythm
  • Contraindications:
    • β-blockers: Low cardiac output, 1st- or 2nd-degree heart block
    • Ca-blockers (non-dihydropyridine): Low cardiac output, heart block
    • Aldosterone antagonists: Oliguria, anuria, renal dysfunction
    • Loop diuretics: Hypokalemia, hypomagnesemia
    • ACE inhibitors: Pregnancy, angioedema
  • Precautions:
    • In patients with chronic kidney disease, digoxin dosage should be 0.125 mg/d or less, and drug levels followed carefully to avoid toxicity.
    • Closely monitor electrolytes.
    • ACE inhibitors: Initiate with care if BP is low. Begin with low-dose captopril, such as 6.25 mg t.i.d.
    • β-blockers: Avoid in patients with evidence of poor tissue perfusion; they may further depress systolic function.
    • Milrinone, amrinone: Contraindicated for long-term use due to increased mortality

Second Line

  • Combination hydralazine/isosorbide dinitrate is recommended in addition to standard treatment in African American patients with class III–IV symptoms (1)[A], and for all patients with reduced EF and symptoms incompletely responsive to ACE inhibitor and beta blocker (3).
  • Angiotensin receptor blockers as an alternative to, or in addition to, ACE inhibitors
  • Inotropic therapy (e.g., dobutamine or milrinone) for support prior to surgery or cardiac transplantation

Additional Treatment

General Measures

  • Reduction of filling pressures
  • Treatment of electrolyte disturbances

Issues for Referral

Management by a heart failure team improves outcomes and facilitates early transplant referral.

Additional Therapies

  • Prophylactic implantable cardioverter defibrillator (ICD) should be considered for patients with an LVEF <30% (1)[A].
  • Biventricular pacing should be considered for patients with QRS interval >120 ms, LVEF <35%, and class III CHF despite medical therapy (1)[A]. MADIT-CRT data suggests patients with class II and possibly class I may also benefit (4)[A].
  • Patients with severe, refractory HF with no reasonable expectation of improvement should not be considered for an ICD (1)[C].
  • Consideration of an LV assist device as “permanent” or destination therapy is reasonable in selected stage D patients.

Ongoing Care

Diet

Low fat, low salt, fluid restriction

Prognosis

20–40% of patients in NYHA functional class IV die within 1 year. With a transplant, a 1-year survival is as high as 94%.

Complications

Worsening CHF, syncope, renal failure, arrhythmias, or sudden death

References

1. Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation. 1996;93:841–2.

2. Nohria A, Lewis E, Stevenson LW. Medical management of advanced heart failure. JAMA. 2002;287:628–40.

3. 2009 Focused update: ACCF/AHA guidelines for the diagnosis and management of heart failure in adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2009;119:1977–2016.

4. Moss AJ, Hall WJ, Cannom DS, et al. Cardiac-Resynchronization Therapy for the Prevention of Heart-Failure Events. N Engl J Med. 2009.

Additional Reading

Hunt SA, et al. ACC/AHA 2005 guideline update for the diagnosis and management of chronic heart failure in adults. J Am Coll Cardiol. 2005;46:1116–43.

See Also (Topic, Algorithm, Electronic Media Element)

Alcohol Withdrawal; Alcohol Abuse and Dependence; Amyloidosis; Congestive Heart Failure; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Hypertension; Hypothyroidism, Adult; Idiopathic Hypertrophic Subaortic Stenosis; Malnutrition, Protein-Calorie; Rheumatic Fever; Sarcoidosis

Codes

ICD9

  • 425.4 Other primary cardiomyopathies
  • 425.5 Alcoholic cardiomyopathy
  • 425.8 Cardiomyopathy in other diseases classified elsewhere

Snomed

  • 85898001 Cardiomyopathy (disorder)
  • 89461002 Primary cardiomyopathy (disorder)
  • 83521008 Dilated cardiomyopathy secondary to alcohol (disorder)

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