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Journal of Postgraduate Medicine, Vol. 57, No. 3, July-September, 2011, pp. 211-213 Case Report Unusual case of isolated biventricular non-compaction presenting with stroke S Mageshkumar1, D Patil1, D Samuel1, D Muthukumar2 1 Department of Medicine, Govt. Stanley Medical College (SMC), Chennai, Tamilnadu, India Date of Submission: 16-Dec-2010 Code Number: jp11056 PMID: 21941059 Abstract Prominent ventricular trabeculations are seen in a fetal heart. Isolated ventricular non-compaction (IVNC) is a rare form of primary cardiomyopathy. It usually presents with heart failure, arrhythmias and very rarely with thrombo-embolic manifestation. The left ventricle is involved in the majority of the cases. Echocardiography is the principal modality for the diagnosis of this condition. IVNC may be misdiagnosed as dilated or hypertrophic cardiomyopathy wherein the prognosis and management do differ significantly. We report a case of a 38-year-old male with IVNC involving both the ventricles, who presented very unusually as stroke resulting from a cardiogenic embolus.Keywords: Biventricular, cardiomyopathy, non-compaction, thrombo-embolism Introduction The fetal heart consists of a trabecular network of sponge- like myocardium, which undergoes compaction as it develops. Although not conclusively proved, it is believed that these prominent ventricular trabeculations remain persistent in adult life due to immature arrest of this process. [1],[5] Isolated ventricular non-compaction (IVNC) usually presents with heart failure, arrhythmias and thrombo-embolic manifestations. The left ventricle is usually involved. Biventricular involvement is a rare entity. To our knowledge very few cases of isolated biventricular non-compaction have been reported in India. [2] Advances in diagnostic imaging techniques have led to an increase in the detection of this rare form of cardiomyopathy. Case Report A 38-year-old male, apparently normal, was admitted with complaints of sudden onset of inability to use the right half of the body. On examination, he was confused, with a regular heart rate of 98/min and blood pressure of 160/90 mm of Hg. There was an upper motor neuron type of seventh cranial nerve weakness on the right side and flaccid type of hemiplegia involving the right upper and lower limbs. On auscultation first and second heart sounds were heard normally. Both carotid arteries and other peripheral pulses were equally felt. Blood glucose, serum creatinine and electrolytes were within normal limits. His chest radiography demonstrated cardiomegaly. An electrocardiography revealed isolated T-wave inversions in anterior chest leads. Serum low density cholesterol level was elevated (194mg/dl) but serum total cholesterol, triglycerides, high-density cholesterol were within normal limits. Serum homocysteine was elevated (46.49 mmol/L). Serum CPK - Muscle -Brain Isoenzyme, protein C, protein S, antibody titers for anti-phospholipid, anti-cardiolipin antibodies were in normal ranges. A computed tomography of the brain showed a hypodense lesion in the left parieto-occiptal region, which was suggestive of acute cerebral infarction. A transthoracic echocardiography demonstrated increased trabeculations in the apical regions of the left [Figure - 1] as well as the right ventricle [Figure - 2]. It also demonstrated a mobile clot suspended from the left ventricle apex [Figure - 3]. There was no valvular abnormality. There were no regional wall motion abnormalities. Doppler color flow mapping confirmed color flow into the intertrabecular recesses [Figure - 4]. A diagnosis of IVNC was made using the Jenni et al. criteria. [5] Ejection fraction was measured to be 62%. He was treated with intravenous heparin along with oral warfarin, angiotensin-converting enzyme inhibitors and beta blockers. His general condition improved and he was discharged. He was asked to follow up on a monthly basis. Screening echocardiography for first-degree relatives was done and they were found to be disease-free. Discussion This case is remarkable because it points to one of the very infrequently seen causes of cerebral thrombo-embolism. This case highlights the identification of non-compaction by using echocardiography, which remains the reference standard for the diagnosis. We briefly review our current understanding of the condition. Isolated ventricular non-compaction (IVNC) is a rare cardiomyopathy. Several pathogenic mechanisms have been proposed. It is widely believed that IVNC results from the intrauterine arrest of endomyocardial morphogenesis that occurs in the fifth to eight week of fetal life. [1] However, there is no conclusive proof for it. The demonstration of the absence of characteristic features of non-compaction on fetal echocardiography and subsequent development of IVNC in later life in a few patients, questions the theory of arrested embryonic development as the pathogenesis of IVNC. [5] IVNC has been categorized as a primary genetic cardiomyopathy. Its prevalence is 0.06% in all echocardiographic examinations performed over a ten-year period in an adult referral population. [2] Though most of the cases are diagnosed in the pediatric age group, patients can present with symptoms in adulthood. Both familial and sporadic forms of IVNC have been described and familial screening is recommended. [3] Various genetic alterations have been implicated in patients with familial and sporadic forms of IVNC. For example, G4.5 gene mutations on Xq28 chromosome in pediatric IVNC; cardiac-specific gene CSX loss (distal Chromosome 5q deletion), dystrobrevin and Cypher/ZASP gene mutations in adults. [3] Echocardiography remains the mainstay of diagnosis. Use of contrast ventriculography, computed tomography or cardiac magnetic resonance imaging, especially in patients with poor image quality on echocardiography can increase the detection rates. [2] IVNC is frequently wrongly diagnosed as hypertrophic or dilated cardiomyopathy, wherein the prognosis and treatment may differ significantly. [1] The most important clinical manifestations of IVNC were heart failure (53%), ventricular tachycardia (41%), sudden cardiac death (35%), cardio-embolic events (18-24%), and syncope (18%). [2] Our patient presented with stroke. The spectrum of presentation of IVNC is wider than was previously thought. [5] It may also present with palpitation or angina. Up to 20% cases get diagnosed when they are asymptomatic. This happens especially when echocardiography is done as a part of family screening or during evaluation of asymptomatic electrocardiography (ECG) changes or cardiac murmur. [4],[5] Various diagnostic criteria have been put forward for the diagnosis of IVNC. The echocardiographic criteria proposed by Jenni et al., are the most frequently followed. [1] They include: (1) the absence of coexisting cardiac anomalies; (2) the presence of a two-layered structure of the Left Ventricle wall, with the end-systolic ratio of the non-compacted to compacted myocardial layer greater than two, measured in parasternal short axis view; (3) finding this structure predominantly in the apical and mid-ventricular areas; and (4) blood flow directly from the ventricular cavity into deep intertrabecular recesses as assessed by Doppler echocardiography or intravenous contrast. [5] Our patient satisfied all these four criteria. However, there have been patients identified with partial non-compaction with ratio of non-compacted to compacted myocardium between 1.4 to 2.0. [1] The left ventricle is most commonly involved but a biventricular involvement is seen in less than ten percent cases of IVNC. [6] Although the right ventricle usually is trabeculated, our case had excessive trabeculations. There are no clearly mentioned criteria for defining right ventricular involvement in IVNC. [6] Cardiac magnetic resonance imaging is useful in the demonstration of right ventricle involvement. [6] Electrocardiography (ECG) changes seen in our patient could be attributed to the cerebrovascular accident as follow-up ECG was normal. Bundle branch block, atrial fibrillation, ventricular tachycardia and Wolf-Parkinson-White syndrome are some of the ECG findings of the previously reported patients. [3] There is microcirculatory dysfunction and subendocardial hypoperfusion, especially during isometric contraction of the endocardium and myocardium within the intertrabecular recesses. This might contribute to ventricular dysfunction or arrhythmias. [6] Up to 18% patients with IVNC have normal left ventricular function and have no hypokinetic segments. Such patients may have extensive non-compacted myocardial segments. Based on this, it is thought that non-compaction is probably not the cause of LV dysfunction but rather a marker of an underlying diffuse cardiomyopathy. [5] The presence of a thrombus in the left ventricle in the presence of good systolic function is a rare entity. But this is possible in IVNC and is due to the relative stasis of blood in the intertrabecular recesses (as seen in our patient). Other causes for thrombo-embolism include lower ejection fraction and rhythm disturbances. Followup echocardiography of the patient did not show the clot [Figure - 5]. There is no specific treatment for IVNC and therapeutic measures are directed at dealing with the patient′s symptoms (heart failure, cardiac arrhythmias, and thrombo-embolic events). [5] Long-term prophylactic anticoagulation is recommended for all patients, especially for those with lower ejection fraction, embolic episodes and severe non-compaction. Reports of life-threatening ventricular arrhythmias, sudden cardiac death, make intracardiac defibrillators an option in long-term management. About 43-60% adults develop progressive decline in ejection fraction and have a poor prognosis. [5] Less severe forms of the disease as well as spontaneous recovery are being increasingly reported. [4] The prognosis is not necessarily ominous, especially for patients who are diagnosed when they are still asymptomatic. Cardiac transplantation has been tried in a few cases. IVNC is a rare cardiomyopathy with variable presentation and varying rate of disease progression. It can be a cause for thrombo-embolic manifestations in affected individuals. Further studies have to be done to find out the prevalence and prognostic factors in the Indian scenario. References
Copyright 2011 - Journal of Postgraduate Medicine The following images related to this document are available:Photo images[jp11056f3.jpg] [jp11056f4.jpg] [jp11056f1.jpg] [jp11056f5.jpg] [jp11056f2.jpg] |
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