Novel Insights from Clinical Experience Cardiology 2014;127:223–226 DOI: 10.1159/000356555 Received: October 9, 2013 Accepted after revision: October 14, 2013 Published online: January 24, 2014 Juvenile ‘Cryptogenic’ Stroke from Noncompaction in a Neuromuscular Disease Josef Finsterer b Claudia Stöllberger a a Second Medical Department, at b Krankenanstalt Rudolfstiftung, Vienna, Austria Established Facts • Noncompaction can be a risk factor for cardioembolic stroke. • Noncompaction can be missed on transthoracic echocardiography. Novel Insights • Noncompaction may cause ‘cryptogenic’ stroke. • Transesophageal echocardiography may be necessary to visualize noncompaction. • Stroke from noncompaction requires oral anticoagulation. Abstract Juvenile, ‘cryptogenic’ stroke from left-ventricular hypertrabeculation/noncompaction (LVHT) missed on transthoracic echocardiography (TTE) but present on transesophageal echocardiography (TEE) has not been reported before. A 31-year-old Caucasian male experienced a small acute embolic ischemic stroke in the anterior territory of the left median-cerebral artery. He had a history of epilepsy until the © 2014 S. Karger AG, Basel 0008–6312/14/1274–0223$39.50/0 E-Mail karger@karger.com www.karger.com/crd age of 12 years with rare seizures, headache 6 weeks prior to admission and a speech disturbance lasting 2 h. He smoked 20 cigarettes per day. An intensive diagnostic work-up including TTE did not reveal the cause of the stroke. Upon TEE, however, LVHT was found. Cardiac MRI did not reveal intraventricular thrombi. There were mild indications for a neuromuscular disorder. LVHT may be a risk factor for cardioembolic stroke. Patients with cryptogenic stroke and normal TTE should undergo TEE. Patients with LVHT should undergo neurological investigation to look for neuromuscular disorders. © 2014 S. Karger AG, Basel Univ. Prof. DDr. J. Finsterer Postfach 20 AT–1180 Vienna (Austria) E-Mail fifigs1 @ yahoo.de Downloaded by: Glasgow Univ.Lib. 130.209.6.61 - 9/8/2017 9:06:40 AM Key Words Noncompaction · Cardiomyopathy · Stroke · Embolism · Neuromuscular disorders Color version available online Introduction In isolated cases, stroke/embolism has been attributed to left-ventricular hypertrabeculation/noncompaction (LVHT) [1–3]. Most patients are older than 55 years and carry typical cardiovascular risk factors for stroke/embolism. Juvenile, ‘cryptogenic’ stroke from LVHT missed on transthoracic echocardiography (TTE) but present on transesophageal echocardiography (TEE) has not been reported. Case Description and Results 224 Cardiology 2014;127:223–226 DOI: 10.1159/000356555 Fig. 1. TTE 4-chamber view which did not visualize the LV apex well. TTE immediately after the TEE (fig. 2). Revision of the initial TTE retrospectively indicated LVHT. Even though intertrabecular thrombi were not found on cardiac MRI, oral anticoagulation was proposed but refused by the patient. Nerve conduction studies were normal. He was dismissed with a prescription for the administration of acetylsalicylic acid and simvastatin. Discussion This case of juvenile, cryptogenic stroke, putatively attributable to thromboembolism as a complication of LVHT, was interesting due to the LVHT being absent on the initial TTE but present on the follow-up TEE. Juvenile stroke has been previously reported in association with LVHT [4–7]. Cryptogenic stroke in association with LVHT, however, is a rare condition [4, 8]. The combination of a cryptogenic and juvenile stroke has been reported in a single patient with LVHT [8]. Several studies have shown that LVHT may be missed on TTE. The reasons for this are manifold [unpubl. data]. They include nonrecognition, the poor quality of the images, hypertrophy of the myocardium [9], dilation of the left ventricle and the misinterpretation of LVHT as false tendons, aberrant bands, apical hypertrophic cardiomyopathy, thrombus, fibroma, obliterative processes of the LV cavity, metastaFinsterer /Stöllberger Downloaded by: Glasgow Univ.Lib. 130.209.6.61 - 9/8/2017 9:06:40 AM The patient was a 31-year-old Caucasian male, of 188 cm height and 103 kg weight, who was admitted for acuteonset right-sided facial palsy, speech disturbance and impairment of writing and reading. His medical history included epilepsy until the age of 12 years with rare seizures (absences) without requiring antiepileptic treatment, headache 6 weeks prior to admission and a speech disturbance lasting 2 h. Since September 2012, he had visited a fitness studio regularly and he had taken protein cocktails and creatine-phosphate over a 6-month period and amino acids for 3 months. He smoked 20 cigarettes per day. The family history was positive for psychosis (elder brother), cerebellar atrophy (elder brother), diabetes (mother and father), short stature (mother 160 cm), arterial hypertension (mother and father), death from myocardial infarction at the age of 54 years (father), testicular malignancy (younger brother) and intracranial surgery in early infancy (one of his younger twin brothers). Clinical neurologic investigation was normal except for reduced tendon reflexes on the upper and lower limbs bilaterally and a fibroma over the right wrist. His blood pressure immediately after the onset of symptoms was 125/75 and 132/88 mm Hg upon admission. The lung Xray and ECG were normal. ECG monitoring revealed episodes of sinusbradycardia. Blood chemical investigations showed a mild elevation of low-density lipoprotein. Carotid ultrasound was normal. Cerebral MRI showed a subacute ischemic lesion over the left-anterior medial artery territory with no mismatch between diffusion and perfusion scans or small vessel disease. Screening for Fabry disease, vasculitis and thrombophilia was negative. Initial TTE was normal (fig. 1). Transcranial Doppler sonography was indicative of a patent foramen ovale. Consecutive TEE excluded a patent foramen ovale but, surprisingly, disclosed LVHT in addition to mild mitral insufficiency (fig. 2). LVHT was confirmed on follow-up Color version available online a b ses, apical hypokinesia or intramyocardial abscess and hematoma [10–13]. A further cause of the ‘invisibility’ of LVHT on TTE may be acquired LVHT [14], which has been reported particularly in patients with neuromuscular disorders (NMDs). Recently, this invisibility has even been attributed to myocarditis [unpubl. data]. Concerning the association of stroke with LVHT, there are conflicting reports. On the one hand, there are a number of reports claiming a causal relationship [4]. On the other, there are studies which could not document an association between LVHT and cardiac embolism [3]. There are even studies which show lower stroke rates among LVHT patients compared to age-matched and sex-matched controls [3]. Assuming that embolic stroke in the patient presented here resulted from thrombi within the intertrabecular spaces, the question arises whether or not patients with LVHT and a cryptogenic embolic event should undergo oral anticoagulation. Since this question has not yet been solved by prospective randomized controlled trials, the type of secondary prophylaxis remains a matter of dispute. In LVHT patients with cryptogenic stroke in whom no other classic risk factor can be detected, we recommend starting oral anticoagulation only if intraventricular thrombi can be detected on echocardiography or cardiac MRI. As NMD was suspected and this is frequently associated with cardiomyopathy and arrhythmias, our patient might have had atrial fibril- lation which would be an indication for oral anticoagulation per se. Primary prophylaxis of stroke in LVHT has been recommended in patients who also present with atrial fibrillation or systolic dysfunction [1]. With regard to the cause of LVHT in our patient, there were indications for a subclinical NMD. The manifestations suggesting this were the reduced tendon reflexes, the family history positive for stroke, heart disease and infantile cerebral disease as well as the previously reported frequent association of LVHT with NMD [15]. Why various different mutations responsible for different types of muscle disease cause a uniform cardiomyopathy remains a cause for speculation, but it can be assumed that myopathic cardiomyopathy induces metabolic mechanisms which finally result in focal myocardial degeneration [16]. Our case shows that LVHT may be a risk factor for cardioembolic stroke and that patients with cryptogenic stroke and normal TTE should undergo TEE. LVHT patients with cryptogenic stroke should undergo oral anticoagulation if thrombi are visible on echocardiography or cardiac MRI. Patients with LVHT should undergo neurological investigation to look for NMD. Cryptogenic Stroke from Noncompaction Cardiology 2014;127:223–226 DOI: 10.1159/000356555 225 Downloaded by: Glasgow Univ.Lib. 130.209.6.61 - 9/8/2017 9:06:40 AM Fig. 2. a TEE 4-chamber view showing a hypertrabeculated LV apex with a 2-layered myocardium at the end diastole. b TTE parasternal short-axis view immediately after the TEE showing hypertrabeculated and 2-layered walls of the LV apex. References 226 7 Finsterer J, Stöllberger C, Sodeck G: Thrombolysis of ischemic stroke from noncompaction in metabolic myopathy. 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