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Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy

Kaspar Broch1, Arne K Andreassen2, Einar Hopp3

  • 1Department of Cardiology , Oslo University Hospital Rikshospitalet , Oslo , Norway ; Faculty of Medicine , K.G. Jebsen Cardiac Research Centre and Center for Heart Failure Research, University of Oslo , Oslo , Norway.

Open Heart
|October 16, 2015
PubMed

Insights

Extensive diagnostic testing for dilated cardiomyopathy (DCM) offers modest value when initial work-up is inconclusive. Further investigations rarely yield new diagnoses or direct therapeutic changes in DCM patients.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Dilated cardiomyopathy (DCM) presents with left ventricular dilation and dysfunction.
  • Etiology and prognosis of DCM are highly heterogeneous, necessitating thorough investigation.
  • Standard diagnostic procedures include physical examination, blood tests, echocardiography, and coronary angiography.

Purpose of the Study:

  • To evaluate the diagnostic and therapeutic yield of extended investigations in patients with idiopathic DCM.
  • To determine the value of tests beyond the standard diagnostic work-up.

Main Methods:

  • Prospective recruitment of 102 patients diagnosed with idiopathic DCM.
  • Extended work-up included cardiac MRI, exercise testing, right-sided heart catheterization with biopsies, 24-hour ECG, and genetic testing.
  • Comparison of findings from extended work-up against initial diagnoses.

Main Results:

  • An alternative diagnosis was established in 15% of patients through extended testing.
  • Potentially disease-causing mutations were identified in 10% of patients.
  • Specific diagnoses included non-compaction cardiomyopathy, systemic inflammatory disease with cardiac involvement, and cardiac amyloidosis. Therapeutic consequences were noted in only 5 cases.

Conclusions:

  • The diagnostic and therapeutic yield of extensive additional testing in DCM patients with unclear etiology after initial work-up is modest.
  • Extensive testing provides limited additional diagnostic or therapeutic benefit in selected DCM cases.
Abstract

Keywords:
GENETICSHEART FAILUREIMAGING AND DIAGNOSTICS

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