A case of Kearns-Sayre sindrome with autoimmune thyroiditis and complete atrio-ventricular block

The Kearns-Sayre syndrome, (characterized by its onset before the age of 20 years, chronic ophthalmoplegia, pigmentary retinal degeneration and at least one of the following symptoms: ataxia, heart block and high protein content in the cerebrospinal fluid) is a severe variant of chronic progressive external ophthalmoplegia with frequent rearrangements of the mitochondrial DNA (mtDNA). The aim of this paper is to report a sporadic paediatric case of Kearns-Sayre syndrome with mtDNA heteroplasmic deletion, absence of cytochrome c-oxidase in many muscle fibers, autoimmune thyroiditis, complete atrio-ventricular heart block in which the diagnosis of subclinical hypothyroiditis associated with autoimmune thyroid disease was made. The subclinical hypothyroidism, more severe in the presence of thyroid antibodies, may have contributed to the pathogenesis of cardiovascular disease. We hypothesized that in this patient, predisposed by mitochondrial deletion, anti-thyroid antibodies may have interfered with the mitochondrial function of conduction heart system, causing atrio-ventricular heart block. It seems important to study anti-thyroid antibodies in every case of Kearn-Sayre syndrome, specially if cardiac rhythm disturbances are present.     

Combined heart defects: tetralogy of Fallot, common atrium and a single atrioventricular valve diagnosed by echocardiography]

We present a case of the rare coincidence of three mechanisms leading to development of congenital heart disease in intrauterine life: intrinsic defect of the development of the cardiac loop (dextrocardia), failure of normal expansion of the subpulmonary infundibulum (Fallot syndrome) and endocardial cushion defect (common atrium and common atrioventricular valve ). It was associated with partial viscera inversion. A 31-year old man with congenital cyanotic heart disease, and Blalock-Taussig anastomosis was admitted to the hospital due to symptoms of severe cardiac failure. On physical examination: systolic murmur, hepatomegaly, ascites, leg's edema and cyanosis were found. In ECG--atrial fibrillation with 3-d degree a-v block. Standard echocardiography revealed: dextrocardia, a large single atrium with ostia of pulmonary and systemic veins, single atrio-ventricular valve , large ventricular, Fallot-like septal defect. The papillary muscles were not visible in the left ventricle. Aorta and pulmonary trunk arose from morphological right ventricle. The patient died on the 3-rd day of hospitalization in the course of cardiac and respiratory insufficiency. Postmorten examination confirmed the diagnosis.     

Cardiac involvement in the course of Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is a rare hereditary X-linked disease characterized by progressive muscle weakness, cardiac conduction defects and arrhythmias. Sudden cardiac death common in patients suffering from EDMD has been attributed to advanced atrio-ventricular conduction disorders and ventricular tachyarrhythmias. We present a case of 20-year-old female patient with EDMD, with bradycardia, atrio-ventricular block, non sustained tachyarrhythmia recorded on 24-hour ambulatory ECG, complained of palpitations and presyncope and managed by pacemaker insertion.     

Sick sinus syndrome in children with a "healthy heart". Apropos of 2 cases with direct endocavitory tracing of the sino-atrial block

The sinus disease in children with "healthy hearts" is exceptional, and has never been documented by tracing of the sinus node. We are reporting two cases of two children, aged 4 and 14 years. An electrophysiological exploration with measurement of the direct activity of the sinus node, illustrates in one case the mechanism of sinus dysfunction. A review from the literature and our cases specifies some of the characteristics of this disease: 1) there are two forms: sporadic (case n. 1) 59 published cases, and familial (case n. 2) 28 published cases in 13 families; 2) the familial forms have a dominant autosomic transmission with variable penetration; 3) the disease may occur during the first days of life, suggesting a congenital origin (from the pathology findings, this disease may be one of the causes of the unexplained sudden death syndrome in infants; 4) association to atrio-ventricular conduction disorders and atrial and ventricular rhythm disorders; 5) frequent indication of stimulators, emphasizing the severity of this disease with a more severe course in sporadic forms (7 deaths in 59 cases).     

The heart and lithium. Apropos of a case of lithium poisoning with intracavitary electrocardiographic exploration]

Among the secondary effects of the salts of Li+, which are widely used in psychiatric treatment, cardiac toxicity appears to be rare. The authors report the case history of a female of 24 years of age, with no previous cardiac history, who presented with Li+ intoxication and a supra-His atrio-ventricular block, followed by episodes of sinus arrest (or of sino-atrial block), accompanied by either a junctional rhythm or by periods of prolonged asystole. The results of the endocavitary electrocardiographic investigation are described. These cardiac effects are compared with the general findings reported in the literature; ECG modifications of the T wave are more common, but Li+ may cause other changes: sinus, atrial or ventricular arrhythmiás, disorders of AV conduction, and cardiomyopathies. The main modes of action which have been suggested are of interference with the other cations (K+, Na+, Ca++) in exchanges across membranes, and an effect on membrane adenyl-cyclase stimulated by catechol-amines.     

Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation

Mutations in LMNA gene encoding two ubiquitously expressed nuclear proteins, lamins A and C, give rise to up to 7 different pathologies affecting specific tissues. Three of these disorders affect cardiac and/or skeletal muscles with atrio-ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features. RESULTS: A new LMNA mutation (1621C>T, R541C) was found in two members of a French family with a history of ventricular rhythm disturbances and an uncommon form of systolic left ventricle dysfunction. The two patients: the proband and his daughter, were affected and exhibited an atypical form of dilated cardiomyopathy with an unexplained left ventricle aneurysm revealed by ventricular rhythm disturbances without atrio-ventricular block. CONCLUSION: This finding reinforces the highly variable phenotypic expression of LMNA mutation and emphasizes the fact that LMNA mutations can be associated with different cardiac phenotypes.     

Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation

BACKGROUND: Mutations in LMNA gene encoding two ubiquitously expressed nuclear proteins, lamins A and C, give rise to up to 7 different pathologies affecting specific tissues. Three of these disorders affect cardiac and/or skeletal muscles with atrio-ventricular conduction disturbances, dilated cardiomyopathy and sudden cardiac death as common features. RESULTS: A new LMNA mutation (1621C>T, R541C) was found in two members of a French family with a history of ventricular rhythm disturbances and an uncommon form of systolic left ventricle dysfunction. The two patients: the proband and his daughter, were affected and exhibited an atypical form of dilated cardiomyopathy with an unexplained left ventricle aneurysm revealed by ventricular rhythm disturbances without atrio-ventricular block. CONCLUSION: This finding reinforces the highly variable phenotypic expression of LMNA mutation and emphasizes the fact that LMNA mutations can be associated with different cardiac phenotypes.     

Out-of-hospital cardiac arrest caused by transient left ventricular apical ballooning syndrome

We describe a case of out-of-hospital cardiac arrest due to ventricular fibrillation in a patient with transient left ventricular apical ballooning syndrome. Our report confirms that left ventricular apical ballooning may have the same complications of myocardial infarction, adding the early ventricular fibrillation to the previous findings of left ventricular wall rupture, ventricular arrhythmias during hospitalization and complete atrio-ventricular block. Moreover, left ventricular apical ballooning may have different and unusual clinical onsets, including sudden cardiac death due to ventricular tachyarrhythmias in the absence of associated symptoms. Therefore, in our opinion left ventricular apical ballooning may be considered as a possible cause of sudden death in otherwise healthy women.     

Arrhythmogenic right ventricular dysplasia in the elderly

Arrhythmogenic right ventricular dysplasia (ARVD) is a form of cardiomyopathy characterized by fibrofatty infiltration of the right ventricle that leads to cardiac arrhythmias, usually sustained ventricular tachycardia or ventricular fibrillation. ARVD typically becomes recognized in young adults. The authors report a case of an octogenarian in whom third-degree atrioventricular block, low cardiac output syndrome, and failure to capture the pacer stimuli developed. ARVD was diagnosed at autopsy based on fibrofatty replacement of the right ventricle. To date, this case represents the oldest patient ever diagnosed with ARVD reported in the literature.     

A monocenter experience of ventricular septal defects treated by catherization

INTRODUCTION: Studies on ventricular septal defects closure by catheterization confirm its feasibility without reporting clearly the indications and difficulties encountered. PATIENTS AND RESULTS: From 2001 to end-2006, 22 patients benefited from 26 ventricular septal defects closure (15 muscular and 7 membranous) at a median age and weight of 2.1 years and 12.5 kg, respectively. A perventricular catheterization was performed in 2 cases. Eighteen patients (82%) benefited from 21 prostheses with success. The closure was associated to surgery in 9 cases (41%) whereas it substituted surgery in the other 13 cases (59%). The median duration of the procedure was significantly longer in case of muscular ventricular septal defects (215 min (175-510) vs. 170 min (120-225), p=0.04). Major complications are reported in 5 cases out of 26 catheterization (19%), including one death related to conduction block, occurring after the implantation of two prostheses in a patient with aortopulmonary transposition. All other associated cardiac diseases have been corrected. A prosthetic emboli occurred in one case, 1.5 months after implantation. It had been retrieved by catheterization. Two patients died afterwards from non-procedure-related causes. After a median follow-up of 1.1 years, the 17 other patients remained asymptomatic. One child with a perimembranous prosthesis presents a paroxystic atrio-ventricular block. CONCLUSION: Even though indispensable for the curative treatment of several congenital cardiac diseases including non-operable ventricular septal defects, this procedure is related to a substantial rate of mortality and morbidity. The risk of atrio-ventricular block must be adequately considered in case of membranous ventricular septal defects.     

Left ventricular reverse remodeling after successful cardiac resynchronization therapy in a 3-year-old girl with idiopathic dilated cardiomyopathy

We present the case of a patient with a congenital complete heart block (CHB) who developed a severe dilated hypokinetic cardiomyopathy whilst paced with a right-sided epicardial wire inserted by an anterior approach. She dramatically and rapidly improved both clinically and echocardiographically, once a single pacing wire was inserted on the left ventricular (LV) wall towards the apex by left thoracotomy. Based upon recent literature, attention is drawn to the fact that left-inserted epicardial pacing wires should probably be considered for pediatric patients in whom atrio-ventricular or inter-ventricular pacing might not be possible to achieve, or else as a consistent approach for small patients requiring VVI epicardial pacing.     

Rhythm complications of radiotherapy. Apropos of a case

We are reporting a case of complete atrio-ventricular block following radiotherapy; this diagnosis was made after ruling out other etiologies. In relation with this case, we are discussing the different rhythm complications of radiotherapy. Therefore, we are presenting tissue involvements, revealed either by minimal electrocardiographic alterations, or by rhythm or conduction disorders, insisting on atrio-ventricular blocks. Finally, we are insisting on a recent disease, cardiac pacemaker dysfunctions, induced by radiotherapy, from in vitro studies and clinical cases.     

Combined exogenous and endogenous catecholamine release associated with Tako-Tsubo like syndrome in a patient with atrio-ventricular block undergoing pace-maker implantation

We report the case of a 65-year-old woman with complete atrio-ventricular block who underwent orciprenaline administration and pacemaker implantation. The intervention was complicated by pneumothorax and acute left ventricular systolic dysfunction with typical apical ballooning (Tako-Tsubo like syndrome). The patient was treated with diuretics and calcium-sensitizers and completely recovered. We speculate that both external and internal catecholamine triggered an acute left ventricular impairment with typical Tako-Tsubo features.     

Combined exogenous and endogenous catecholamine release associated with Tako-Tsubo like syndrome in a patient with atrio-ventricular block undergoing pace-maker implantation

We report the case of a 65-year-old woman with complete atrio-ventricular block who underwent orciprenaline administration and pacemaker implantation. The intervention was complicated by pneumothorax and acute left ventricular systolic dysfunction with typical apical ballooning (Tako-Tsubo like syndrome). The patient was treated with diuretics and calcium-sensitizers and completely recovered. We speculate that both external and internal catecholamine triggered an acute left ventricular impairment with typical Tako-Tsubo features.     

Exercise-induced bidirectional ventricular tachycardia with alternating right and left bundle branch block-type patterns--a case report

Exercise-induced ventricular tachycardia in young adults may occur with various structural heart diseases or with structurally normal heart. The structural heart diseases reported to cause exercise-induced ventricular tachycardia in this patient population include arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy, dilated cardiomyopathy, myocarditis, congenital heart disease, and myocardial ischemia. The conditions well identified to cause exercise-induced ventricular tachycardia with structurally normal heart are congenital long-QT syndrome and familial polymorphic ventricular tachycardia. Exercise-induced ventricular tachycardia may display polymorphic, monomorphic, or bidirectional morphologies. A case of exercise-induced catecholamine-sensitive bidirectional ventricular tachycardia with alternating right and left bundle branch block patterns is reported in a young boy in the absence of structural heart disease, the conditions causing bidirectional ventricular tachycardia, and family history of such an event or sudden cardiac death. The bidirectional tachycardia typically displays right bundle branch block in right precordial leads with alternating polarity of the QRS-complex in frontal plane leads but in this case the bidirectional morphology of tachycardia was caused by alternating right and left bundle branch block-type patterns. The conditions causing bidirectional ventricular tachycardia are digoxin toxicity, ischemic heart disease, hypokalemia, myocarditis, and familial polymorphic ventricular tachycardia syndrome but the exact cause in this patient remained obscure, and the possibility of an underlying electrical or ion channel disease of the heart could not be ruled out.     

A syndrome of congenital cardiomyopathy with mitral regurgitation, complete heart block and atrial arrhythmia

A distinctive syndrome of cardiomyopathy with mitral regurgitation, complete heart block and atrial arrhythmia was noted in four male patients aged 19 to 49 years. Each presented with cardiac enlargement and varying degrees of left ventricular failure. One patient was known to have had complete heart block from infancy and another patient from 13 years of age. Each had chronic atrial fibrillation or flutter, with a regular ventricular rhythm at 35 to 45/min. Hemodynamic studies showed dilatation and poor contractility of the left ventricle, considerable mitral regurgitation, reduced resting cardiac output and elevated left ventricular end-diastolic pressures. The clinical course in follow-up periods of up to 5 years has been one of relatively mild, slowly progressive congestive heart failure. Mitral valve replacement and permanent pacemaker installation in one patient had no effect on the clinical course. The mitral valve showed redundant leaflet tissue with mucoid degenerative changes. This syndrome appears to represent a form of congenital cardiomyopathy which involves degeneration or fibrotic changes in both the myocardium and the conduction system. Familial occurrence has not been recognized.     

Cardiac involvement in pheochromocytoma. A report of 6 cases]

Pheochromocytoma is a rare case of sustained hypertension or hypertensive crisis: sometimes it may occur with several aspecific symptoms or hypotension. The literature reports frequent myocardial involvement in patients affected by pheochromocytoma. Adrenergic hormone effects are responsible for a functional coronary insufficiency which causes myocardial damage. The cardiac involvement may appear with symptoms of different severity that sometimes represent the only symptoms of the neoplasia. Clinical and instrumental cardiac alterations observed in 6 patients suffering from pheochromocytoma are reported. Electrocardiographic abnormalities were found in 5 out of 6 patients. Inferior myocardial infarct was present in one case; in two patients electrocardiogram showed left ventricular hypertrophy and negative T wave; frequent ventricular extrasystoles in one case and complete atrio-ventricular block in another were found during the hypertensive crisis; in one patient the electrocardiogram showed STT changes and in the last one, left ventricular hypertrophy, more evident in the interventricular septum, was present at the echocardiogram. All subjects underwent surgical treatment after a period of drug therapy. To date surgery is the only possibility to eliminate myocardial malignant effects of catecholamines.     

Asynchronism and right ventricular pacing

In patients with congenital heart block (CHB), dual-chamber pacing restores physiological heart rate and atrio-ventricular synchronization. However, patients with narrow QRS junctional escape rhythm may be deleteriously affected by long-term, permanent, apical ventricular pacing. We assessed the impact of apical ventricular pacing on echocardiographic ventricular dyssynchrony and hemodynamic parameters. METHODS: Fourteen CHB adults (23 +/- years, 58% male), with a DDD transvenous pacemaker and a junctional escape rhythm (QRS<120 ms) before implantation, were studied. Echocardiography coupled with tissue Doppler imaging (TDI) and Strain rate was performed in spontaneous rhythm (VVI mode 30/mn) and during atrio-synchronized ventricular pacing. RESULTS: The heart rate (43 +/- 09 vs 68 +/- 07: p<0.01), cardiac output (2.9 +/- 0.7 vs 3.7 +/- 0.6 L/min) and left ventricular filling time (325 +/- 38 vs 412 +/- 51 ms; p<0.01) were significantly less in the escape spontaneous rhythm compared with atrio-ventricular synchronized apical pacing. However, interventricular dyssynchrony (28 +/- 12 vs 59 +/- 25 ms, p<0.05), intra-left ventricular dyssynchrony (36 +/- 11 vs 57 +/- 29 ms; p<0.05), extent of left ventricular myocardium displaying delayed longitudinal contraction (26 +/- 10 vs 39 +/- 17%: p<0.05) were significantly less in the escape rhythm compared with paced rhythm. CONCLUSION: Once implanted with a DDD pacemaker, CHB patients present with increased cardiac output secondary to the restoration of physiological heart rate and improved diastolic function. However, the apical site is not optimal, as it creates detrimental ventricular dyssynchrony in patients with previous nearly physiological ventricular activation. Alternative pacing sites should be investigated.     

Effect of ventricular and sequential stimulation on the left- ventricular systolic function]

Left ventricular systolic function at rest was determined by echocardiography and Doppler in 20 patients after dual chamber pacemaker implantation due to second and third degree A-V block. Measurements were performed in each patient during VVI and DDD mode pacing at three different atrio-ventricular (A-V) intervals: 100, 150 and 200 ms. The essential hemodynamic superiority of DDD stimulation over VVI mode in the form of significant increase of forward stroke volume index (SVI) and cardiac index (CI) during dual chamber stimulation at identical rate stimulation was observed. Closer individual analysis of the values of CI during DDD stimulation at three different A-V intervals (100, 150 and 200 ms) gave the possibility of programming optimal A-V intervals (the highest value of CI) for each patient. The sequential atrio-ventricular stimulation as compared to right ventricular stimulation essentially improves the left ventricular systolic function at rest in patients without symptoms of heart failure. Maximum hemodynamic advantage during DDD stimulation depends on individual selection of A-V delay in each patient.     

外科手术治疗先天性心脏病介入封堵术后并发症-附10例分析

目的:总结外科开胸手术方法治疗介入封堵动脉导管未闭(PDA)、房间隔缺损(ASD)和室间隔缺损(VSD)术后并发症。方法:对1995年至2010年10例PDA、ASD、VSD采用介入封堵后出现并发症而进行外科手术治疗的病例进行回顾性分析。其中严重主动脉瓣反流、三尖瓣反流各1例,Ⅲ°房室传导阻滞2例,封堵器移位5例,介入装置释放困难1例。10例患者均采用全麻体外循环下心脏直视手术,取出堵闭器、矫治心脏畸形。结果:10例患者均成功取出堵闭器,心脏畸形矫治满意,外科手术中开放升主动脉全部自动复跳,顺利脱机。10例患者中9例术后恢复良好,1例因肾功能衰竭及多脏器功能衰竭死亡。结论:PDA、ASD及VSD介入封堵治疗创伤小,术后恢复快,疗效肯定,但也存在一定的手术风险和出现严重并发症的可能。及时地行外科手术可以避免病情恶化、矫治心脏畸形,术后心功能恢复良好。