European Heart Journal Advance Access originally published online on April 15, 2005
European Heart Journal 2005 26(11):1144-1145; doi:10.1093/eurheartj/ehi265
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Evident, but poorly defined: left ventricular hypertrabeculation/noncompaction and its diagnostic criteria: reply
The Heart Hospital
University College London
London, UK
The Heart Hospital
University College London
London, UK
The Heart Hospital
University College London
London, UK
The Heart Hospital
University College London
16–18 Westmoreland Street
London, UK
Tel: +44 207 573 8888
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E-mail address: perry.elliott{at}uclh.org
We thank Stöllberger and Finsterer for their interesting observations on our article.1
They question the premise that noncompaction is a disorder of morphogenesis, citing reports of de novo appearance of trabeculations or ‘spongy’ myocardium after birth. These observations illustrate the confusion in terminology and diagnostic criteria surrounding this clinical entity. In our view, the term ‘noncompaction’ refers to a failure of the normal process of trabecular resorption that occurs during embryonic development. The appearance of prominent trabeculae in childhood and adult life cannot by definition be noncompaction because compaction has already taken place; acquired hypertrabeculation seems a more appropriate term for this.
We used two published criteria for the diagnosis of noncompaction.2,3. Echoes were reviewed by two independent and experienced echocardiographers; there was 100% concordance. We did not re-analyse all 518 patients with dilated cardiomyopathy, and it is possible that some cases were missed. However, all patients were scanned using a standardised protocol using three short-axis views at basal level, papillary muscles level, and apical level, and three apical views.
The authors raise an important issue about distinguishing the papillary muscles from muscle bands and trabeculae. During real time 2D echocardiography in the parasternal short-axis plane, papillary muscles identification is obtained by scanning from the base of the heart to the apex. The additional criterion suggested by Stöllberger and co-workers4 may be helpful, but to our knowledge it has not been prospectively validated.
No patient in this series had symptoms or signs of muscle disease, or an elevated serum creatine kinase. However, many patients in previous reports had diagnosed neuromuscular or metabolic diseases prior to cardiac evaluation, or features such as tremor, wasting, and extrapyramidal signs. The cohort in our paper screened negative for cytoskeletal gene and tafazzin gene mutations. The cypher/ZASP gene family members that Stöllberger and co-workers4 refer to is included in this cohort.
Predictors of death are impossible to identify given that only one out of the 47 patients died during follow-up. Patients with baseline impaired systolic function improved symptomatically during follow-up, but their echo parameters were unchanged. Patients with normal baseline systolic function did not progress symptomatically during follow-up.
While all patients included in this cohort were referred to our service over a 10-year period, one patient was followed from 1987 to 1996 by another service, and her diagnosis was revised on her first visit to our clinic. Therefore, her follow-up was just under 15 years from time of first clinical presentation, explaining apparent discrepancy in follow-up duration.
Both patients with embolic phenomena presented before referral to our service and were investigated at other centres. One had a severely dilated left ventricle with reduced systolic function; the other had a moderately enlarged left ventricle with reduced systolic function and an enlarged left atrium.
Greater awareness of hypertrabeculation and improvements in imaging technology are presenting cardiologists with a major diagnostic dilemma. There is a need to establish standardised terminology and diagnostic criteria; determination of the aetiology and expression of disease in familial cases may assist in this process.
References
- Murphy RT, Thaman R, Gimeno Blanes J et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J 2005;26:187–192.
[Abstract/Free Full Text] - Chin TK, Perloff JK, Williams RG et al. Isolated noncompaction of left ventricular myocardium: a study of eight cases. Circulation 1990;82:507–513.
[Abstract/Free Full Text] - Jenni R, Oechslin E, Schneider J et al. Echocardiographic and patho-anatomical characteristics of isolated left ventricular non-compaction: a step towards a classification as a distinct cardiomyopathy. Heart 2001;86:666–671.
[Abstract/Free Full Text] - Vatta M, Mohapatra B, Jimenez S et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 2003;42:2014–2027.
[Abstract/Free Full Text]
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