Differentials

Common

Idiopathic dilated cardiomyopathy

History

symptoms of cardiac failure (shortness of breath on exertion, orthopnoea, fatigue, chest pain or pressure, paroxysmal nocturnal dyspnoea, abdominal discomfort, leg swelling), family history of cardiomyopathy

Exam

signs of cardiac failure (S3 gallop during rapid ventricular phase of diastole may indicate ventricular dilatation; jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly)

1st investigation
  • ECG:

    often non-specific findings; low limb lead voltage along with precordial criteria for left ventricular hypertrophy, and a wide QRS complex/left bundle branch block seen in idiopathic dilated cardiomyopathy; P wave abnormalities indicating atrial enlargement

    More
  • CXR:

    enlarged cardiac silhouette

    More
  • echocardiogram:

    normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; poor systolic function with diminished stroke volume and low ejection fraction; 4-chamber cardiac enlargement

  • FBC:

    low Hb or haematocrit levels in anaemia

    More
  • B-type natriuretic peptide:

    elevated in heart failure

    More
Other investigations
  • cardiac MRI:

    findings may suggest an alternate cause for the cardiomyopathy

    More
  • cardiac catheterisation:

    increased ventricular size on ventriculography; global wall motion defect

  • endomyocardial biopsy:

    myriad pathological findings may be seen if there is an alternate cause for the cardiomyopathy

    More

Myocarditis

History

history of recent or known infection, which may be viral (e.g., coxsackievirus, cytomegalovirus [CMV], herpes, adenovirus, parvovirus, HIV, severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2]), bacterial (meningococcus, psittacosis, streptococcal), rickettsial (typhus, Rocky Mountain spotted fever), fungal (e.g., aspergillosis, candidiasis), or parasitic; history of recent drug use (e.g., cocaine, sulfonamides, anticonvulsants) or vaccination with SARS-CoV-2 mRNA vaccine; chest pain, exertional dyspnoea, fatigue, syncope, or palpitations

Exam

signs related to underlying cause, plus signs of cardiac failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly) and/or tachyarrhythmias, and/or cardiogenic shock

1st investigation
  • ECG:

    ST-T changes, ventricular tachyarrhythmias

  • echocardiogram:

    left ventricular dilatation and/or segmental wall motion abnormalities

Other investigations
  • serology:

    may be positive for infective organism (e.g., parvovirus, HIV, Lyme)

  • cardiac MRI:

    may show areas of abnormal signal intensity in regions of active myocarditis

  • endomyocardial biopsy:

    may be positive for CMV, adenovirus, coxsackievirus, parvovirus, or human herpes virus

    More

Alcohol: dilated cardiomyopathy

History

history of excessive alcohol consumption; may be diagnosed as idiopathic if alcohol history is not apparent

Exam

signs of liver disease (spider naevi, clubbing, jaundice, hepatomegaly); signs of cardiac failure due to systolic dysfunction (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly)

1st investigation
  • ECG:

    non-specific ST-T wave changes, atrial fibrillation

    More
  • CXR:

    enlarged cardiac silhouette

    More
  • echocardiogram:

    normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; diminished stroke volume on Doppler echocardiography, with low ejection fraction; 4-chamber cardiac enlargement

Other investigations
  • liver function tests:

    may be elevated, particularly gamma-glutamyl transferase

  • serum albumin:

    low albumin if hepatic synthetic function impaired

  • coagulation profile:

    may be abnormal if hepatic synthetic function impaired

Uncommon

Hypertrophic cardiomyopathy (HCM)

History

often presents during adolescence; sudden cardiac death can be presenting sign; dyspnoea most common symptom; lightheadedness, pre-syncope or syncope, angina, palpitations; family history of sudden cardiac death or diagnosed HCM

Exam

late systolic murmur at the left sternal border, with a crescendo-decrescendo pattern at the apex and left sternal border; holosystolic murmur of mitral regurgitation may be heard at apex; jugular venous pulse with prominent 'a' wave; S4 gallop

1st investigation
  • ECG:

    left ventricular hypertrophy often present; pathological Q waves and ST-T wave changes common; P wave abnormalities indicating atrial enlargement

  • CXR:

    enlarged cardiac silhouette

  • echocardiogram:

    hallmark sign is left ventricular hypertrophy; there may be evidence of delayed ventricular relaxation pattern/diastolic dysfunction; systolic dysfunction representing end-stage disease may develop; left atrial enlargement; aortic valve notching

    More
Other investigations
  • cardiac MRI:

    apical or other localised areas of hypertrophy may be more readily seen on cardiac MRI than on conventional echocardiography; functional cardiac MRI may be used to assess left ventricular outflow tract obstruction (LVOT), thickness of septum and presence of anterior motion of mitral valve during systole, as well as extent of fibrosis on late gadolinium enhancement

  • cardiac catheterisation:

    LVOT; pull-back catheterisation may be used to assess pressure gradient between apex and aorta; falsely elevated left ventricular pressures may be seen due to entrapment of the catheter during systole; Brockenbrough-Braunwald-Morrow sign

    More
  • endomyocardial biopsy (more commonly done at autopsy in the case of a sudden death):

    myocardial hypertrophy and disorganisation of muscle bundles in a whorled pattern; diffuse fibrosis of the walls of the heart, with somewhat increased fibrosis observed in intraventricular septum; intramural coronary artery arterial wall thickening and decreased lumen size may be seen

    More

Idiopathic restrictive cardiomyopathy

History

may be asymptomatic or present with symptoms of cardiac failure (shortness of breath on exertion, orthopnoea, fatigue, chest pain or pressure, paroxysmal nocturnal dyspnoea, abdominal discomfort, leg swelling); family history of cardiomyopathy

Exam

may have signs of heart failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly)

1st investigation
  • ECG:

    findings may suggest a secondary cause for the cardiomyopathy

    More
  • CXR:

    findings may suggest a secondary cause for the cardiomyopathy

    More
  • echocardiogram:

    normal or small reduction in left ventricular diastolic diameter; bi-atrial enlargement; restrictive diastolic dysfunction; normal appearance of pericardium

    More
  • B-type natriuretic peptide:

    elevated

    More
Other investigations
  • cardiac MRI:

    useful in distinguishing between constrictive pericarditis and restrictive cardiomyopathy; in constrictive pericarditis the pericardium may appear to be calcified or thickened, which is not typically present in restrictive cardiomyopathy

    More
  • cardiac catheterisation:

    similar haemodynamic findings to constrictive pericarditis, but higher left ventricular than right ventricular filling pressures are more suggestive of restrictive cardiomyopathy when the diagnosis is in question.

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

History

male predominance; first presentation often in adolescence; family history of sudden cardiac death or ARVC; chest pain, palpitations, dizziness, fatigue, dyspnoea, syncope, or sudden cardiac death after physical exertion

Exam

may be normal; S3, S4, or split S2 may be present

1st investigation
  • ECG:

    may have abnormal repolarisation with T wave inversion present in leads V1-V3; an epsilon wave (small amplitude potentials at end of QRS); ventricular ectopy or recurrent monomorphic ventricular tachycardia with left bundle branch block pattern

  • echocardiogram:

    right ventricular dilatation; aneurysmal projections from right ventricular wall

  • B-type natriuretic peptide:

    elevated

    More
Other investigations
  • cardiac MRI:

    increased signal intensity of right ventricular free wall on T1-weighted images representing fatty infiltration; thinning and akinesis/aneurysms of right ventricular free wall/triangle of dysplasia; left ventricular involvement is increasingly recognised

  • cardiac catheterisation:

    right ventricular enlargement; right ventricular wall motion abnormalities; normal coronary artery anatomy

    More
  • endomyocardial biopsy:

    fibro-fatty replacement of myocardium

    More
  • exercise stress test:

    exercise-related ventricular tachyarrhythmias

  • ambulatory monitoring:

    spontaneous ventricular tachyarrhythmias

  • signal-averaged ECG:

    a late potential may be present

Brugada syndrome and other ion channelopathies

History

syncope, palpitations, and cardiac arrest are common presentations; Brugada syndrome: may have family history of Brugada syndrome or unexplained cardiac death, can be asymptomatic, may have a history of febrile illness, illicit drug or alcohol use, or use of sodium channel blockers or psychotropic drugs

Exam

often non-specific to causes of syndrome and unremarkable arrhythmia; may be an incidental finding on ECG

1st investigation
  • serum potassium:

    normal

    More
  • ECG:

    findings vary with type of channelopathy

    More
  • echocardiogram:

    usually no specific findings

    More
Other investigations
  • drug provocation test with sodium channel blocker:

    may unmask ECG findings in Brugada syndrome

  • electrophysiological study:

    inducible arrhythmia

  • genetic testing for Brugada syndrome:

    positive for known pathogenic mutation associated with Brugada syndrome (e.g., SCN5A)

  • advanced cardiac imaging (MRI or CT):

    in Brugada syndrome, may demonstrate cardiac structural changes, particularly in the right ventricular outflow tract

Conduction system disease

History

patients may present with syncope or sudden death; there may be other features of cardiomyopathy or structural heart disease resulting in heart failure; in some cases, there may be features of an associated neuromuscular disease

Exam

exclude associated neuromuscular diseases

1st investigation
  • ECG:

    prolonged PR, QRS, or QT intervals with evidence of bundle branch block or high-grade atrioventricular block

  • ambulatory monitoring:

    evidence of high-grade atrioventricular block

Other investigations
  • electrophysiological studies:

    prolonged HV intervals may be noted

    More
  • genetic testing:

    may identify causative gene

    More

Mitochondrial disorders

History

present with a wide range of symptoms relating to the organ systems affected; the more common conditions, which may have cardiac manifestations, include the Kearns-Sayre syndrome and myopathy, lactic acidosis, and stroke-like-episodes (MELAS) syndrome

Exam

findings depend on the specific organ systems involved

1st investigation
  • clinical evaluation:

    diagnosis depends on a high index of clinical suspicion in patients with multisystem involvement, exercise tolerance that is out of keeping with cardiac imaging (e.g., poor cardiopulmonary stress testing with early achievement of anaerobic threshold), or an unusual pattern of inheritance (i.e., maternal if there is a mitochondrial mutation); tests are guided by clinical presentation

  • cardiopulmonary exercise testing:

    elevated ventilatory equivalent for oxygen (VE/VO2) at peak exercise

    More
Other investigations
  • genetic testing:

    results of testing nuclear and mitochondrial DNA (blood, muscle, and/or other tissues) may confirm diagnosis

    More
  • echocardiogram:

    hypertrophic or dilated cardiomyopathy

  • muscle biopsy:

    may help confirm diagnosis

    More

Takotsubo syndrome

History

usually affects older women; history of recent physical/psychological stress, chest pain, dyspnoea; similar presentation to anterior myocardial infarction

Exam

may be signs of cardiac failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly)

1st investigation
  • echocardiogram:

    apical ballooning of left ventricle

Other investigations
  • cardiac catheterisation:

    normal coronary vessels

    More
  • cardiac MRI:

    may show apical ballooning without scarring in the apical segments, distinguishing this from left anterior descending artery territory infarction

Peripartum: dilated cardiomyopathy

History

most common in obese, multiparous women >30 years of age, with preeclampsia, towards the end of pregnancy or in the months following delivery; presents with fatigue, shortness of breath​

Exam

may be signs of cardiac failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly)

1st investigation
  • ECG:

    non-specific ST-T wave changes or bundle branch block; P wave abnormalities indicating atrial enlargement

    More
  • CXR:

    enlarged cardiac silhouette

    More
  • echocardiogram:

    normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; diminished stroke volume on Doppler echocardiography, with low ejection fraction; 4-chamber cardiac enlargement

Other investigations

    Tachycardia-induced: dilated cardiomyopathy

    History

    history of structural heart disease with decreased left ventricular function, particularly idiopathic dilated cardiomyopathy and a tachyarrhythmia; can affect any age group including children; evidence of underlying cause for tachyarrhythmia such as thyrotoxicosis

    Exam

    rapid, irregular pulse rate; features of cardiac failure due to systolic dysfunction (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly)

    1st investigation
    • ECG:

      evidence of underlying atrial or ventricular tachyarrhythmias, which lead to the condition

      More
    • CXR:

      enlarged cardiac silhouette

      More
    • echocardiogram:

      normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; diminished stroke volume on Doppler echocardiography, with low ejection fraction; 4-chamber cardiac enlargement

      More
    Other investigations

      Amyloidosis: hypertrophic or restrictive cardiomyopathy

      History

      history of and symptoms of amyloidosis and cardiac failure (e.g., fatigue, weight loss, shortness of breath on exertion, orthopnoea, fatigue, chest pain or pressure), palpitations, syncope

      Exam

      signs of cardiac failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly), arrhythmias; specific features suggestive of amyloid include periorbital purpura and macroglossia

      1st investigation
      • ECG:

        may show conduction abnormalities, low QRS voltage compared with muscle mass​​​

      • echocardiogram:

        speckled appearance of myocardium (although can occur in end stage kidney disease), normal or small reduction in left ventricular ejection fraction; bi-atrial enlargement (with right atrial pressure > 10 mmHg); restrictive diastolic dysfunction; normal appearance of pericardium, but presence of effusion together with other signs supports diagnosis; longitudinal strain quantification

        More
      • B-type natriuretic peptide:

        elevated

        More
      Other investigations
      • serum and urine protein electrophoresis with immunofixation:

        monoclonal immunoglobulin light chain spike

        More
      • rectal biopsy:

        amyloid on Congo red stain; for immunohistology and genotyping

        More
      • endomyocardial biopsy:

        amyloid on Congo red stain; gold standard test

      • cardiac MRI:

        diffuse decrease in T1 and T2 signal intensity of the myocardium, due to infiltration with amyloid protein; global sub-endocardial late gadolinium enhancement

        More
      • bone scan:

        unique myocardial uptake pattern in ATTR cardiac amyloidosis by scintigraphy with 99mTechnetium (Tc)-bisphosphonate derivatives

        More
      • cardiac catheterisation:

        absolute myocardial blood flow and coronary flow reserve are substantially reduced

        More
      • genetic testing:

        may demonstrate transthyretin mutations

      Haemochromatosis: restrictive or dilated cardiomyopathy

      History

      history of haemochromatosis and related symptoms (e.g., fatigue, arthralgias, sexual dysfunction), symptoms of cardiac failure (shortness of breath on exertion, orthopnoea, fatigue, chest pain or pressure, paroxysmal nocturnal dyspnoea, abdominal discomfort, leg swelling), palpitations, syncope

      Exam

      signs of haemochromatosis (e.g., skin bronzing), signs of cardiac failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly) and/or arrhythmias

      1st investigation
      • ECG:

        decreased QRS amplitude and flattened/inverted T waves; arrhythmias

      • echocardiogram:

        either signs of mixed dilated-restrictive or dilated cardiomyopathy

      Other investigations
      • cardiac MRI:

        iron depositions in sub-epicardial regions

        More
      • serum iron studies:

        elevated ferritin >449 picomoles/L (>200 micrograms/L); elevated transferrin saturation; ferritin also acts as an acute phase reactant and levels may be elevated due to other acute illnesses

        More
      • liver biopsy:

        elevated hepatic iron concentration

        More
      • endomyocardial biopsy:

        increased iron concentration

      Fabry disease: hypertrophic or restrictive cardiomyopathy

      History

      rare; symptoms begin in adolescence, burning pain in arms and legs, ocular involvement with vortex keratopathy, renal insufficiency and failure, fatigue; cardiac-predominant variant may present in middle life​

      Exam

      rash in swimming-trunk distribution; cornea verticillata (whorl-like epithelial deposits); anhidrosis

      1st investigation
      • ECG:

        frequently shows left ventricular hypertrophy with non-specific ST-T wave changes

      • CXR:

        enlarged cardiac silhouette

        More
      • echocardiogram:

        may show left ventricular hypertrophy; may show binary appearance to left ventricular endocardium

        More
      Other investigations
      • cardiac MRI:

        may show left ventricular hypertrophy; a characteristic finding is late gadolinium enhancement in the postero-basal left ventricular wall

        More
      • serum levels of alpha-galactosidase A:

        levels are absent or low in male patients, but can be normal in females

        More

      Other lysosomal storage disease

      History

      symptoms vary depending on the underlying disorder (e.g., Gaucher's, Niemann-Pick's, Hunter-Hurler, Pompe's syndromes)

      Exam

      signs variable depending on the underlying disorder (e.g., Gaucher's, Niemann-Pick's, Hunter-Hurler, Pompe's syndromes)

      1st investigation
      • ECG:

        findings vary depending on presence/absence of cardiac hypertrophy/conduction system disease

      • CXR:

        enlarged cardiac silhouette

        More
      • echocardiogram:

        normal or small reduction in left ventricular ejection fraction; bi-atrial enlargement

      • B-type natriuretic peptide:

        elevated

        More
      Other investigations
      • enzyme and/or substrate assays:

        altered activity or levels, depending on specific enzyme deficiency

      • genetic testing:

        may show mutation

      Doxorubicin: dilated cardiomyopathy

      History

      recent administration of doxorubicin, usually occurs 1-8 weeks after the final dose; age >70 years and pre-existing cardiac disease may increase risk​

      Exam

      features of cardiac failure due to systolic dysfunction (crackles at the lung bases, peripheral oedema, jugular venous distension, hepatomegaly)

      1st investigation
      • ECG:

        non-specific ST-T wave changes

        More
      • CXR:

        enlarged cardiac silhouette

        More
      • echocardiogram:

        normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; diminished stroke volume on Doppler echocardiography, with low ejection fraction; 4-chamber cardiac enlargement

        More
      Other investigations
      • endomyocardial biopsy:

        vacuolar degeneration and interstitial oedema; no inflammatory changes; histopathological grade corresponds to cumulative dose of doxorubicin

      Heavy metals/chemicals: dilated cardiomyopathy

      History

      exposure to cobalt, occupational exposure to heavy metals, use of herbal medicines, nausea and vomiting with heavy metal ingestion

      Exam

      horizontal lines across the fingernails, neurological impairment, features of cardiac failure due to systolic dysfunction (crackles at the lung bases, peripheral oedema, jugular venous distension and hepatomegaly)

      1st investigation
      • ECG:

        non-specific ST-T wave changes

        More
      • CXR:

        enlarged cardiac silhouette

        More
      • echocardiogram:

        normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; diminished stroke volume on Doppler echocardiography, with low ejection fraction; 4-chamber cardiac enlargement

      Other investigations
      • FBC/blood film:

        basophilic stippling with arsenic or lead ingestion; may show anaemia

      • serum chemistries:

        renal failure may be seen with heavy metal poisoning

      Diabetes mellitus

      History

      history of diabetes mellitus; polyuria, polydipsia if undiagnosed; symptoms of cardiac failure (shortness of breath on exertion, orthopnoea, fatigue, chest pain or pressure, paroxysmal nocturnal dyspnoea, abdominal discomfort, leg swelling) important to exclude associated coronary heart disease in patients with diabetes mellitus who present with a suspected cardiomyopathy

      Exam

      signs of complications from diabetes: peripheral vascular disease, ulceration, diabetic retinopathy; signs of cardiac failure: jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly

      1st investigation
      • ECG:

        non-specific ST-T wave changes

      • CXR:

        enlarged cardiac silhouette

        More
      • echocardiogram:

        evidence of diastolic dysfunction and/or systolic dysfunction

      • B-type natriuretic peptide:

        elevated

        More
      Other investigations
      • fasting plasma glucose:

        >6.9 mmol/L (125 mg/dL)

      • HbA1c:

        ≥48 mmol/mol (6.5%)

      Thyroid dysfunction: dilated cardiomyopathy

      History

      tachycardia, palpitations, shortness of breath, paroxysmal nocturnal dyspnoea, heat/cold intolerance, weight loss/gain, lethargy, hyperdefecation/constipation, depression

      Exam

      signs of hyperthyroidism: tachycardia, weight loss, tremor; signs of hypothyroidism: thinning of hair, numbness in fingers and dry skin; signs of cardiac failure: jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly

      1st investigation
      • ECG:

        sinus bradycardia (hypothyroidism) or sinus tachycardia/atrial fibrillation (hyperthyroidism)

        More
      • CXR:

        enlarged cardiac silhouette

        More
      • echocardiogram:

        low left ventricular ejection fraction, may have pericardial effusion in hypothyroidism

        More
      Other investigations
      • thyroid function tests:

        elevated free T3 and/or free T4 with suppressed thyroid-stimulating hormone (TSH) in hyperthyroidism; elevated TSH in primary hypothyroidism

      • thyroid uptake and scan:

        increased uptake in region of excess T4 production in instances of Graves' disease or toxic nodular goitre

        More

      Acromegaly: hypertrophic or dilated cardiomyopathy

      History

      shortness of breath, chest pain, orthopnoea, paroxysmal nocturnal dyspnoea; deep voice and slowing of speech; acromegaly can be asymptomatic

      Exam

      enlargement of hands, feet, nose, and ears with a prominent brow and jaw; signs of cardiac failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly)

      1st investigation
      • ECG:

        may show left ventricular hypertrophy

        More
      • CXR:

        enlarged cardiac silhouette

        More
      • echocardiogram:

        concentric biventricular hypertrophy is seen in the earlier stages, with subsequent development of diastolic dysfunction and then impaired systolic function

      Other investigations
      • serum insulin like growth factor-1 (IGF-1) levels:

        elevated

        More
      • oral glucose tolerance test with growth hormone levels:

        lack of normal suppression of growth hormone

        More
      • MRI brain:

        pituitary tumour

      Noonan syndrome: hypertrophic cardiomyopathy

      History

      may be found in conjunction with other cardiac anomalies such as pulmonary valve stenosis and septal defects, problems with language and speech, normal intelligence in the majority of patients, puberty may be delayed by up to 2 years, hearing loss in some

      Exam

      eye signs (downward sloping, ptosis, wide set), undescended testes, short stature, pectus excavatum

      1st investigation
      • ECG:

        left ventricular hypertrophy and left-axis deviation often present; ST-T wave changes common; P wave abnormalities indicating atrial enlargement

      • CXR:

        enlarged cardiac silhouette

      • echocardiogram:

        left ventricular hypertrophy and pulmonary stenosis

      Other investigations
      • karyotype analysis/genetic tests:

        normal karyotype/mutations have been reported in PTPN11, KRAS, and other genes

        More

      Lentiginosis: hypertrophic cardiomyopathy

      History

      abnormalities of genitalia; hearing loss (sensorineural)

      Exam

      numerous pigmented skin lesions (lentigines), pectus excavatum, hypertelorism

      1st investigation
      • ECG:

        left ventricular hypertrophy and left-axis deviation often present; ST-T wave changes common; conduction defects are also common

      • CXR:

        enlarged cardiac silhouette

      • echocardiogram:

        concentric left ventricular hypertrophy

      Other investigations

        Thiamine deficiency (wet beriberi): dilated cardiomyopathy

        History

        chest pain, palpitations, ankle swelling, anxiety, mental impairment, poor appetite, abdominal pain, alcohol dependency, poor diet or oral intake

        Exam

        jugular venous distension, peripheral oedema, tachycardia (signs of high-output cardiac failure), peripheral neuropathy, high blood pressure, cyanosis

        1st investigation
        • ECG:

          sinus tachycardia and non-specific ST-T wave changes

          More
        • CXR:

          enlarged cardiac silhouette

          More
        • echocardiogram:

          normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; diminished stroke volume on Doppler echocardiography, with low ejection fraction; 4-chamber cardiac enlargement

        Other investigations
        • trial of thiamine replacement:

          improvement in symptoms

          More
        • thyroid-stimulating hormone:

          normal

          More

        Friedreich's ataxia/muscular dystrophy: hypertrophic and dilated cardiomyopathy

        History

        stumbling and falls, muscle weakness, drooping eyelids, visual and hearing loss, speech difficulties

        Exam

        loss of proprioception distally, nystagmus, scoliosis

        1st investigation
        • ECG:

          left ventricular hypertrophy and T wave changes, atrial fibrillation

        • CXR:

          enlarged cardiac silhouette

        • echocardiogram:

          concentric left ventricular hypertrophy is common

        Other investigations
        • electromyography:

          reduced sensory and motor potentials in Friedreich's ataxia

        Deficiency of iron, niacin, selenium, or vitamin D: dilated cardiomyopathy

        History

        poor nutrition; risk factors for iron deficiency anaemia (heavy menstrual cycles, gastrointestinal losses); history of bowel pathology (malabsorption); fatigue, shortness of breath, unusual food cravings (pica due to iron deficiency)

        Exam

        signs of cardiac failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly) pale mucous membranes (suggesting anaemia)

        1st investigation
        • ECG:

          non-specific ST-T wave changes

          More
        • CXR:

          enlarged cardiac silhouette

          More
        • echocardiogram:

          normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; diminished stroke volume on Doppler echocardiography, with low ejection fraction; 4-chamber cardiac enlargement

        Other investigations
        • serum selenium levels:

          may be low

        • serum iron studies:

          low iron and ferritin levels in iron deficiency

        • FBC:

          Hb low in iron deficiency

        • serum vitamin D levels:

          may be low

        Systemic lupus erythematosus: dilated cardiomyopathy

        History

        fatigue, rash, myalgia, arthritis, painless haematuria

        Exam

        butterfly rash, discoid rash, heart murmur (Libman-Sacks endocarditis), features of biventricular failure; jugular venous distension, peripheral oedema, hepatomegaly, crackles at lung bases

        1st investigation
        • ECG:

          variable non-specific findings

          More
        • CXR:

          enlarged cardiac silhouette, pleural effusions, infiltrates

          More
        • echocardiogram:

          normal or decreased wall thickness; poor wall thickening in systole; left ventricular dilatation in a spherical pattern; diminished stroke volume on Doppler echocardiography, with low ejection fraction; 4-chamber cardiac enlargement

        Other investigations
        • serum antinuclear antibody test:

          usually positive

        • serum anti-Smith and anti-double stranded-DNA antibodies:

          usually positive

          More
        • activated PTT levels:

          may be prolonged if antiphospholipid antibodies are present

        • urinalysis:

          haematuria, casts, or proteinuria may be present, indicating renal involvement

        Endomyocardial fibrosis/Loeffler endocarditis (hypereosinophilic syndrome)

        History

        majority of cases occur following travel to tropical regions within 15° of the equator; Loeffler endocarditis may occur without precedent travel; women and children more commonly affected; symptoms depend on which chambers of the heart are affected; may include shortness of breath (left ventricle) or peripheral oedema (right ventricle)

        Exam

        dependent on the heart chamber affected: jugular venous distension, oedema and ascites possible with right ventricular fibrosis; signs of pulmonary congestion (e.g., crackles, rales) with left ventricular fibrosis

        1st investigation
        • FBC:

          >600 cells/mL peripheral blood eosinophils in hypereosinophilic syndrome

        • CXR:

          may demonstrate atrial enlargement; ventricles usually normal size

        • ECG:

          may show a variety of abnormalities including ST segment changes, abnormal P waves and atrial fibrillation

          More
        • echocardiogram:

          may demonstrate a pericardial effusion or fibrosis

        Other investigations
        • cardiac MRI:

          may demonstrate endomyocardial fibrosis

        • endomyocardial biopsy:

          reactive fibrosis and thrombosis

          More

        Sarcoidosis

        History

        history of sarcoidosis, and/or features of the condition (e.g. dry cough, eye symptoms of dryness, blurred vision, and red eye); progressive symptoms of cardiac failure (shortness of breath on exertion, orthopnoea, fatigue, chest pain or pressure, paroxysmal nocturnal dyspnoea, abdominal discomfort, leg swelling), palpitations, syncope

        Exam

        signs of cardiac failure (jugular venous distension, peripheral oedema, basal crackles on lung auscultation, hepatomegaly), pansystolic murmur, arrhythmias, lymph node enlargement, erythema nodosum

        1st investigation
        • CXR:

          may show lymph node enlargement (typically bilateral hilar or mediastinal nodal enlargement); less common features include a ground-glass appearance of the lungs and small pleural effusions

        • serum angiotensin converting enzyme (ACE) level:

          may be elevated

          More
        • ECG:

          may show prolonged PR interval; higher degrees of heart block may be present

          More
        Other investigations
        • pulmonary function tests:

          restrictive pattern, or obstructive or mixed pattern

        • lymph node biopsy:

          non-caseating granulomas

        • transbronchial lung biopsy:

          non-caseating granulomas

          More
        • cardiac MRI:

          may show inflammatory changes

          More
        • echocardiogram:

          may be normal or show left ventricular dysfunction

          More
        • endomyocardial biopsy:

          granulomatous involvement, often patchy

          More

        Electrolyte disorders

        History

        symptoms will depend on the nature/cause of the electrolyte abnormality

        Exam

        signs will depend on the nature/cause of the electrolyte abnormality

        1st investigation
        • serum metabolic panel:

          may show low potassium, calcium, phosphate, or magnesium levels

          More
        • ECG:

          hypokalaemia: may show ST segment depression, decreased amplitude of T waves, U waves; hypocalcaemia/hypomagnesaemia: may show prolonged QT interval

        Other investigations
        • echocardiogram:

          performed for signs of cardiomyopathy; rarely may show evidence of left ventricular dysfunction

        Use of this content is subject to our disclaimer