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Catecholaminergic polymorphic ventricular tachycardia caused by anovel mutation in the cardiac ryanodine receptor

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Echocardiography is very useful in the assessment of the lead location, diagnosis of the pacemaker complications and follow-up. Interventricular septum perforation should be suspected in the presence of RBBB on ECG after implantation of a temporary or permanent pacemaker.

Tayfun fiahin, Ulafl Bildirici, Umut Çelikyurt, Aykut Tantan, Teoman K›l›ç

Department of Cardiology, Medical Faculty of Kocaeli University, Kocaeli, Turkey

Address for Correspondence/Yaz›flma Adresi: Dr. Umut Çelikyurt

Department of Cardiology, Medical Faculty of Kocaeli University, Umuttepe Yerleflkesi, Eski Istanbul Yolu 10. km, 41380 Kocaeli, Turkey

Phone: +90 262 303 86 83 Fax: +90 262 303 80 03 E-mail: ycelikyurt@gmail.com

Catecholaminergic polymorphic

ventricular tachycardia caused by a

novel mutation in the cardiac

ryanodine receptor

Kardiyak ryanodin reseptör genindeki yeni bir

mutasyon sonucu oluflan katekolaminerjik

polimorfik ventriküler taflikardi

A 21-year-old male presented with a 9-year history of recurrent, exercise-related syncope. His past medical history was remarkable for cerebral palsy due to birth hypoxia. Twelve-lead electrocardiogram (QTc range 395-405 ms) showed frequent premature ventricular contractions with left bundle branch block morphology and inferior axis (Fig. 1). Within 24 hours of admission, the patient developed polymorphic ventricular tachycardia associated with loss of consciousness requiring 4 direct-current cardioversions (Fig. 2). Holter monitoring showed frequent narrow and wide QRS complex tachycardias and possible bidirectional ventricular tachycardia (Fig. 3). Transthoracic echocardiography was completely normal. There was no family history of syncope or sudden death. Genetic analysis demonstrated the presence of a novel, causative, de novo missense mutation in the cardiac ryanodine receptor gene (RyR2: p.L4105F) that was not present in either the parents of the patient or in 100 healthy control individuals; therefore, he was a sporadic carrier. Ventricular arrhythmias were controlled with the combination of beta-blocker (metoprolol 200 mgr/day) and calcium-channel blocker (verapamil 120 mgr/day) therapy, and the patient underwent successful placement of a dual-chamber implantable cardioverter defibrillator.

Figure 3. Transesophageal echocardiogra-phy at midesophageal level showing the lead passing through interventricular sep-tum to the left ventricle

LA - left atrium, LV - left ventricle, RV - right ventricle

Anadolu Kardiyol Derg 2008; 8: E30-6

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Figure 2. Parasternal short-axis view of transthoracic echocardiography showing the lead in the left ventricle

LV - left ventricle, RV - right ventricle

Figure 1. The parasternal long-axis view of transthoracic echocardiography showing the lead of the temporary pacemaker

Ao - aorta, LA - left atrium, LV - left ventricle, RV - right ventricle

Figure 1. Baseline 12-lead electrocardiogram

(2)

Can Hasdemir, Hikmet H. Ayd›n*, Selen fiahin1, Bernd Wollnik1

From Departments of Cardiology and *Biochemistry, Ege University School of Medicine, ‹zmir, Turkey

1Institute of Human Genetics and Center for Molecular Medicine

Cologne, University Hospital of Cologne, Cologne, Germany Address for Correspondence/Yaz›flma Adresi: Dr. Can Hasdemir

Department of Cardiology Ege University School of Medicine, Izmir, Turkey Phone: +90 232 390 40 01 Fax: +90 232 343 53 92 E-mail: canrfca@yahoo.com

Renal anjiyoplasti s›ras›nda

kontralateral renal artere

embolize olan stent

Embolization of the contralateral renal artery by

stent during renal angioplasty

Dirençli hipertansiyonu ve her iki alt ekstremitede klaudifikasyosu olan 45 yafl›nda erkek hastaya yap›lan periferik anjiyografide, sol böbre¤e ait iki renal arter (RA) ve her ikisinde de proksimal %95 darl›k oldu¤u; abdominal aortan›n ise RA’lar›n distalinde tam t›kand›¤› izlendi (fiekil 1, Video 1. Vide-o/hareketli görüntüler www.anakarder.com’da izlenebilir). Renal arter dar-l›¤›na perkütan giriflim, aort t›kan›kdar-l›¤›na aorta-femoral baypas cerrahisi yap›lmas›na karar verildi. Perkütan giriflim için sa¤ aksillar arter kullan›ld›. Renal arterdeki lezyonda 4.5x15 mm renal stent 24 atmosfer bas›nca kadar fliflirilmesine ra¤men lezyonun çok sert olmas› nedeniyle darl›k tam gideri-lemedi ve stentte kum saati görünümü olufltu (fiekil 2). Stentin balonu indi-rilerek katetere do¤ru geri çekilmesi s›ras›nda balon, damar duvar›na iyi appoze olmam›fl ve orta k›sm› ekspanse olmam›fl stenti de beraberinde aortaya do¤ru hareket ettirdi (Video 2. Video/hareketli görüntüler www.anakarder.com’da izlenebilir). Aortaya do¤ru yer de¤ifltiren stentin balon ve kateterle birlikte d›flar› çekilmesi denendi; ancak bu s›rada stent

balonun üzerinden kayarak infrarenal aortaya düfltü. Bunun üzerine sten-tin kement yöntemi ile ç›kar›lmas›na karar verildi. Stent, kement ile yaka-lanmaya çal›fl›l›rken perfüzyonu iyi olan sa¤ RA’ya embolize oldu (Video 3. Video/hareketli görüntüler www.anakarder.com’da izlenebilir). Daha son-ra stent sa¤ RA’da kement ile yakalanason-rak dolafl›mdan ç›kar›ld›.

Renal arter darl›¤›na yönelik perkütan giriflimlerde ekspanse olmufl stentin embolizasyonu oldukça nadirdir. Bu tür komplikasyonlarla bafl ede-bilmek için kateter laboratuvarlar›nda kement (microsnare) haz›r bulundu-rulmal›d›r.

Nihan Kahya Eren, Çayan Çak›r, Faruk Ertafl, Cem Nazl›, As›m Oktay Ergene

Atatürk E¤itim ve Araflt›rma Hastanesi, Kardiyoloji Klini¤i, ‹zmir, Türkiye

Yaz›flma Adresi/Address for Correspondence: Dr. Nihan Kahya Eren

Atatürk E¤itim ve Araflt›rma Hastanesi, Kardiyoloji Klini¤i, ‹zmir, Türkiye Tel: +90 232 245 15 81 E-posta: nkahya77@yahoo.com

E-page Original Images E-sayfa Orijinal Görüntüler

Anadolu Kardiyol Derg 2008; 8: E30-6

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fiekil 1. Aortografide sol böbre¤e ait iki renal arter ve bu arterlerdeki ostiyal lezyonlar izlen-mektedir

Figure 3. Bidirectional ventricular tachycardia

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