Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report

Login or register to view PDF.
Abstract

Introduction
We report an unusual and interesting case of a 24-year-old woman with nephropathic cystinosis in association with concomitant isolated noncompaction of the left ventricle. Left ventricular noncompaction usually presents with reduced exercise tolerance as a consequence of ventricular dysfunction, the result of embolus or with palpitations and syncope due to arrhythmia. There is no specific treatment directed at isolated noncompaction. Treatment is focused on the cause of presentation, with medication aimed at improving ventricular dysfunction, as well as treating and preventing thrombosis and arrhythmia.

Case presentation
Our patient presented with an episode of decompensated heart failure. Trans-thoracic echocardiography demonstrated excessive trabeculation with inter-trabecular recesses in the left ventricle typical of noncompaction of the left ventricle. The patient's admission was complicated by a cardiac arrest precipitated by ventricular tachycardia for which she subsequently underwent implantation of an automatic implantable cardioverter defibrillator.

Conclusion
This is, as far as we know, the first case report of the co-existence of nephropathic cystinosis and isolated noncompaction of the left ventricle. It highlights the importance of being vigilant to the diagnosis of left ventricular noncompaction.

Pages

Introduction
Isolated noncompaction of the left ventricle (LV) is increasingly being recognized as a distinct entity with a significant associated morbidity and mortality; however, definitions are still being debated. A diagnosis can be made with the commonly available modality of echocardiography but is still often overlooked. The co-existence of noncompaction of the LV together with nephropathic cystinosis has not been described previously.

Case presentation
A 24-year-old woman with cystinosis complicated by end-stage renal failure, for which she was receiving intermittent haemodialysis, was admitted with generalized malaise and weight loss. In May 2001, she had undergone trans-thoracic echocardiography because of increasing shortness of breath on exertion, and this had shown a moderately dilated LV with globally reduced systolic function (ejection fraction, EF = 25%), consistent with dilated cardiomyopathy.

The patient was referred for cardiology consultation following a period of increased breathlessness and a cardiac arrest precipitated by ventricular tachycardia from which she was successfully DC cardioverted. Her medication at that time included perindopril 4 mg once daily (od), carvedilol 3.125 mg twice daily (bd), prednisolone 5 mg od, levothyroxine 200 mcg od, folic acid 5 mg od, darbepoetin 80 mcg per week, mercaptamine (Cystagon) 150 mg four times per day (qds), calcium carbonate 500 mg three times daily (tds), aspirin 75 mg od and alfacalcidol 1.5 mcg od.

On examination, the patient's blood pressure was 86/50 mmHg and she was in sinus rhythm at 76 bpm. She had some facial oedema, mild ankle oedema and bi-basal crackles on chest auscultation. Heart sounds examination revealed a soft apical pansystolic murmur. The remainder of the examination was unremarkable. Echocardiography revealed a dilated LV with globally impaired systolic LV function (EF Simpsons biplane = 25%). There was marked trabeculation of the LV, most prominent at the apex and lateral wall at the mid-ventricular level; six trabeculae were more than 2 mm in diameter. The noncompacted to compacted ratio was 2.2 at the thickest part of the lateral wall on the parasternal short-axis view. Multiple inter-trabecular recesses in communication with the LV cavity were demonstrated by forward and reverse flow of blood on colour flow mapping (Figure 1). These features are consistent with current diagnostic criteria for isolated ventricular noncompaction. At the time of writing, the patient had been referred for heart and kidney transplant assessment and had undergone implantation of an automatic implantable cardioverter defibrillator (AICD).

Pages

References
  • Abderhalden E. Familiare Cystindiathese. Z Physiol Chem. 1903;38:557├óÔé¼ÔÇ£561.
  • Geraldine A, et al. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. The Cystinosis Collaborative Research Group. Nat Genet. 1995;10:246├óÔé¼ÔÇ£248. doi: 10.1038/ng0695-246.
  • Gahl WA, Dalakas MC, Charnas L, Chen KT, Pezeshkpour GH, Kuwabara T, Davis SL, Chesney RW, Fink J, Hutchison HT. Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl J Med. 1988;319:1461├óÔé¼ÔÇ£1464.
  • Dixit MP, Greifer I. Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up. BMC Nephrol. 2002;3:8. doi: 10.1186/1471-2369-3-8.
  • Nugent AW, Daubeney PE, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG., National Australian Childhood Cardiomyopathy Study. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003;348:1639├óÔé¼ÔÇ£1646. doi: 10.1056/NEJMoa021737.
  • Stollberger C, Finsterer J. Pitfalls in the diagnosis of left ventricular hypertrabeculation/non-compaction. Postgrad Med J. 2006;82:679├óÔé¼ÔÇ£683. doi: 10.1136/pgmj.2006.046169.
  • Ritter M, Oechslin E, Sutsch G, Attenhofer C, Schneider J, Jenni R. Isolated noncompaction of the myocardium in adults. Mayo Clin Proc. 1997;72:26├óÔé¼ÔÇ£31. doi: 10.4065/72.1.26.
  • Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, N─é─¢rnberg P, Heuser A, Jenni R, Hennies HC, Thierfelder L. Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation. 2004;109:2720├óÔé¼ÔÇ£2723. doi: 10.1161/01.CIR.0000131865.21260.56.
  • Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA., Noncompaction study collaborators. Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab. 2002;77:319├óÔé¼ÔÇ£325. doi: 10.1016/S1096-7192(02)00195-6.
  • Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990;82:507├óÔé¼ÔÇ£513.
  • Stollberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol. 2002;90:899├óÔé¼ÔÇ£902. doi: 10.1016/S0002-9149(02)02723-6.
  • Oechslin EN, Attenhofer Jost CH, Rojas JR, Kaufmann PA, Jenni R. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000;36:493├óÔé¼ÔÇ£500. doi: 10.1016/S0735-1097(00)00755-5.
  • Ichida F, Hamamichi Y, Miyawaki T, Ono Y, Kamiya T, Akagi T, Hamada H, Hirose O, Isobe T, Yamada K, Kurotobi S, Mito H, Miyake T, Murakami Y, Nishi T, Shinohara M, Seguchi M, Tashiro S, Tomimatsu H. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. 1999;34:233├óÔé¼ÔÇ£240. doi: 10.1016/S0735-1097(99)00170-9.
  • Jenni R, Oechslin E, Schneider J, Attenhofer JC, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86:666├óÔé¼ÔÇ£671. doi: 10.1136/heart.86.6.666.
  • Agmon Y, Connolly HM, Olson LJ, Khandheria BK, Seward JB. Noncompaction of the ventricular myocardium. J Am Soc Echocardiogr. 1999;12:859├óÔé¼ÔÇ£863. doi: 10.1016/S0894-7317(99)70192-6.
  • Boyd MT, Seward JB, Tajik AJ, Edwards WD. Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: implications for valuation of mural thrombi by two-dimensional echocardiography. Am Coll Cardiol. 1987;9:J323├óÔé¼ÔÇ£326.

"