Clinical characteristics of Danon disease / 中华心血管病杂志

Objective: To review the clinical data of 7 patients with Danon disease and analyze their clinical characteristics. Methods: The medical records of 7 patients with Danon disease, who were hospitalized in Peking Union Medical College Hospital of Chinese Academy of Medical Sciences from April 2008 to July 2021, were reviewed and summarized, of which 6 cases were diagnosed as Danon disease by lysosomal-associated membrane protein-2 (LAMP-2) gene mutation detection and 1 case was diagnosed by clinicopathological features. Clinical manifestations, biochemical indexes, electrocardiogram, echocardiography, skeletal muscle and myocardial biopsy and gene detection results were analyzed, and patients received clinical follow-up after discharge. Results: Six patients were male and average age was (15.4±3.5) years and the average follow-up time was (27.7±17.0) months. The main clinical manifestations were myocardial hypertrophy (6/7), decreased myodynamia (2/7) and poor academic performance (3/7). Electrocardiogram features included pre-excitation syndrome (6/7) and left ventricular hypertrophy (7/7). Echocardiography examination evidenced myocardial hypertrophy (6/7), and left ventricular dilatation and systolic dysfunction during the disease course (1/7). The results of skeletal muscle biopsy in 6 patients were consistent with autophagy vacuolar myopathy. Subendocardial myocardial biopsy was performed in 3 patients, and a large amount of glycogen deposition with autophagosome formation was found in cardiomyocytes. LAMP-2 gene was detected in 6 patients, and missense mutations were found in all these patients. During the follow-up period, implantable cardioverter defibrillator implantation was performed in 1 patient because of high atrioventricular block 4 years after diagnosis, and there was no death or hospitalization for cardiovascular events in the other patients. Conclusion: The main clinical manifestations of Danon disease are cardiomyopathy, myopathy and mental retardation. Pre-excitation syndrome is a common electrocardiographic manifestation. Autophagy vacuoles can be seen in skeletal muscle and myocardial pathological biopsies. LAMP-2 gene mutation analysis is helpful in the diagnose of this disease.

Situs inversus totalis asociado a síndrome de preexcitación ventricular: reporte de un caso / Situs inversus totalis and pre excitation syndrome

Resumen: El situs inversus totalis es la inversión congénita completa de órganos torácicos y abdominales. Se presenta el caso de una paciente de 3 años sin antecedentes médicos previos, a quien en atención primaria, y por un cuadro respiratorio agudo, se evidencia el hallazgo de dextrocardia y burbuja gástrica a derecha en la radiografía de tórax, sospechándose situs inversus totalis. Fue derivada a cardiología infantil donde se confirmó el diagnóstico con un ecocardiograma transtorácico, asociado a un hallazgo de preexcitación ventricular en el electrocardiograma. Una vez resuelto el cuadro respiratorio agudo, la paciente se mantiene controlada de manera periódica en atención primaria y por especialista de manera semestral.

Abstract: Situs inversus totalis is the complete congenital inversion of thoracic and abdominal organs. We present the case of a 3-year-old girl with no previous medical history. When seen with an acute respiratory syndrome, dextrocardia and gastric bubble on the right side led to the diagnosis of Situs inversus. She was referred to infant cardiology where the diagnosis was confirmed with a transthoracic echocardiogram. In addition, the electrocardiogram identified the presence of ventricular preexitation. Once the acute respiratory symptoms subsided, the patient remains controlled periodically in primary care and by a specialist every six months. No episodes of tachycardia have been detected.

Fibrilación auricular por vía accesoria con patrón de preexcitación ventricular: Informe de un caso / Atrial fibrillation by accessory pathway with pattern of ventricular pre-excitation: A case report

RESUMEN La fibrilación auricular por vía accesoria es una peligrosa enfermedad que puede provocar muerte súbita; es poco frecuente y necesita una conducta exacta, mucho más si aparece un patrón de preexcitación ventricular. Se presenta el caso de un adolescente masculino de 17 años de edad y piel blanca, con antecedentes de palpitaciones cortas a esfuerzos moderados y pérdida ocasional del conocimiento de breve duración, sin otra sintomatología asociada. Al momento del ingreso presenta un cuadro de palpitaciones, fatiga, palidez e hipotensión arterial, y en el electrocardiograma se observa una taquicardia con QRS ancho, irregular, con onda delta y frecuencia ventricular rápida, que fue interpretada como fibrilación auricular preexcitada. Se realizó cardioversión eléctrica sincronizada al QRS con 100 julios y se logró restaurar el ritmo sinusal con patrón electrocardiográfico de preexitación ventricular (síndrome de Wolff-Parkinson-White).

ABSTRACT Atrial fibrillation by accessory pathway is a dangerous disease that can cause sudden death, it is rare and it needs a careful management, even more, if a pattern of ventricular pre-excitation appears. The case of a white skin 17-year-old teenager with a history of short palpitations at moderate effort, and occasional loss of consciousness of short duration, without other associated symptoms, is presented. At the moment of admission, he presents palpitations, fatigue, pallor and low blood pressure; in the electrocardiogram a tachycardia with wide, irregular QRS, with delta wave and rapid ventricular rate is observed, which was interpreted as pre-excited atrial fibrillation. Synchronized electrical cardioversion to QRS with 100 joules was performed, and sinus rhythm was restored with electrocardiographic pattern of ventricular pre-excitation (Wolff-Parkinson-White syndrome).

Diagnóstico diferencial de las taquicardias de complejo ancho: un desafío permanente / Wide QRS tachycardia: a diagnostic challenge

El diagnóstico electrocardiográfico correcto de la causa de una taquicardia de complejo QRS ancho (TCA) es fundamental, ya que tanto el manejo, como el pronóstico del paciente, es diferente según su etiología, y define el estudio que debemos realizar. Numerosos criterios y algoritmos han sido descritos para diferenciar el origen de estas taquicardias. Sin embargo, muchos de estos son complejos y difíciles de aplicar para el médico menos experimentado. Esto es particularmente importante en los servicios de emergencia, donde se necesita una definición rápida que permita un manejo agudo apropiado. En la presente revisión analizamos los diferentes mecanismos de las TCA y los principales criterios diagnósticos en el ECG, reforzando, especialmente, aquellos de aplicación rápida y de alto rendimiento diagnóstico.

The correct electrocardiographic diagnosis of the cause of a wide QRS complex tachycardia (WCT) is essential since both management and prognosis of the patient. The correct electrocardiographic diagnosis of the cause of a wide QRS complex tachycardia (WCT) is essential since both management and prognosis is different according to its etiology and defines the study that we should perform. Numerous criteria and algorithms have been described to differentiate the origin of these tachycardias. However, many of these are complex and difficult to apply to the less experienced doctor. This is particularly important in emergency rooms, where a rapid definition is needed to allow proper therapy. In this review we analyze the different mechanisms of WCT and the main EKG diagnostic criteria, emphasizing those which can be applied rapidly and have high diagnostic value.

Preexcitation Syndrome with a Mahaim-type Accessory Pathway

Wide QRS complex tachycardia with a left bundle branch block pattern can be caused by supraventricular tachycardia with aberrant conduction, preexcitation syndrome mediated through a right-sided accessory pathway, and/or ventricular tachycardia. The use of atrial pacing maneuvers can be beneficial for unmasking minimal preexcitation to differentiate between these conditions. Here, we report a case of successful radiofrequency catheter ablation of a Mahaim fiber in a patient with wide QRS complex tachycardia.

Spontaneous Transition of Double Tachycardias with Atrial Fusion in a Patient with Wolff-Parkinson-White Syndrome

Among patients with Wolff-Parkinson-White syndrome, atrioventricular reciprocating tachycardia (AVRT) and atrioventricular nodal reentrant tachycardia (AVNRT) can coexist in a single patient. Direct transition of both tachycardias is rare; however, it can occur after premature atrial or ventricular activity if the cycle lengths of the two tachycardias are similar. Furthermore, persistent atrial activation by an accessory pathway (AP) located outside of the AV node during ongoing AVNRT is also rare. This article describes a case of uncommon atrial activation by an AP during AVNRT and gradual transition of the two supraventricular tachycardias without any preceding atrial or ventricular activity in a patient with preexcitation syndrome.

Intermittent Pre-Excitation-Syndrome in Facio-Scapulo-Humeral Muscular Dystrophy

Pre-excitation-syndrome has not been reported as a phenotypic feature of facio-scapulo-humeral muscular dystrophy (FSH-MD). In a 39-year-old male with FSH-MD due to a reduced tandem repeat size in the D4Z4-locus on chromosome 4q35, cardiac involvement, manifesting as an incomplete right bundle-branch-block, tall T-waves in V 3-5, ST-elevation in V 2-4, and mild thickening of the left ventricular myocardium, was first recognised 10 years earlier. Follow-up at age 39 years revealed mild myocardial thickening, two intra-ventricular aberrant bands, and, surprisingly, intermittent pre-excitation on a routine electrocardiography. Cardiac involvement in FSH-MD may manifest as hypertrophic cardiomyopathy or various arrhythmias, of which one may be pre-excitation-syndrome.

Síndrome de pre-excitación cardiaca y su relación con la fibrilación auricular / Syndromes of pre-excitement and his heart

Los sí­ndromes de pre-excitación cardiaca son entidades con baja prevalencia; sin embargo tienen relevancia médica debido a la particularidad de su presentación dentro de la que se incluyen eventos que van desde palpitaciones hasta muerte súbita. Fisiopatológicamente existen asas de conducción aberrante (haz de Kent en el Wolff Parkinson White y fibras de James en el Lown Ganong Levine) que actuan como vias accesorias para la conducción cardiaca de aurí­culas hacia ventrí­culos originando así­ patrones electrocardiográficos que pueden ser detectados por el clí­nico en aras de determinar la conducta médica que sea más adecuada para el paciente según las manifestaciones que este presente en cada uno de los sí­ndromes. En el presente documento se realiza una revisión de los 2 sí­ndromes de pre-excitación cardiaca más comunes y su relación con la fibrilación auricular. Palabras Clave: Sí­ndromes de pre-excitación, Wolff Parkinson White, Lown Ganong Levine, Arritmias.

Same genotype and different phenotypes in a family with PRKAG2 gene mutation / 中华心血管病杂志

<p><b>OBJECTIVE</b>The gamma(2) subunit of AMP-activated protein kinase (PRKAG2) located in chromosome 7 plays an important role in regulating metabolic pathways, and patients with PRKAG2 mutations are associated with familial ventricular pre-excitation, hypertrophic cardiomyopathy and AV block. We observed the difference on the phenotypes in a large family with same PRKAG2 mutation.</p><p><b>METHOD</b>Direct DNA sequence was performed to screen the exons and exon-intron boundaries of PRKAG2 gene in a large family with 13 affected persons detected by electrocardiography (ECG).</p><p><b>RESULTS</b>Sinus bradycardia, short PR interval, right bundle bunch block (RBBB), complete AV block, atrial flutter, atrial fibrillation and sudden cardiac death were identified in this family. Hypertrophic cardiomyopathy was found in one family member. Genetic analysis revealed a missense mutation (Arg302Glu) in all affected family members. This mutation was previous described in patients with Wolff-Parkinson-White (WPW) syndrome and hypertrophic cardiomyopathy.</p><p><b>CONCLUSIONS</b>Besides WPW syndrome and hypertrophic cardiomyopathy, PRKAG2 mutations are responsible also for a diverse phenotypes. PRKAG2 gene mutation should be suspected with familial occurrence of RBBB, sinus bradycardia, and short PR interval.</p>

Manifestaciones eléctricas de alteraciones miocárdicas asociadas a preexcitación ventricular / On the electrical manifestations of some heart diseases associated with ventricular preexcitation

Electro-Vectorcardiographic curves, corresponding some heart diseases, must be analyzed in the light of the ventricular depolarization sequence, as well as on the heart's position and rotation. A more than 30-msec interval between the end of the initial slurring (delta) and the vertex of the R wave in the left unipolar leads or the main axis of the vectorcardiographic ventricular curves, allows us to infer the coexistence of left ventricular hypertrophy. On the other hand, segmental irregularities or distorsions of the electric curves suggest the presence of a limited myocardial zone unable to be activated. Extensive or multiple deformations of these curves are more suggestive of a diffuse myocardial damage. Sometimes signs of preexcitation, due to a pharmacological action, can also appear.

Dolor torácico y alteración del segmento ST en pacientes con vías accesorias aurículo-ventriculares: Report of three cases / Chest pain and ST segment abnormalities in patients with accessory atrioventricular pathways

We report three patients with pre-excitation syndrome that resembled an acute coronary syndrome. A 65 years old woman, consulting in the emergency room for palpitations and retrosternal pain. EKG showed regular tachycardia and ST depression that reverted spontaneously after an episode of vomiting. A subsequent EKG demonstrated a pre-excitation syndrome and the accessory pathway was fulgurated. A 18 years old male presenting with tachycardia and chest pain elicited during exercise. An EKG showed a pre-excitation syndrome and ST segment elevation in V2 and V3. A coronary angiogram was normal. The accessory pathway successfully fulgurated. A 63 years old woman that presented tachycardia while exercising. She was subjected to an electrical cardioversion. An electrophysiological study showed an accessory pathway that was successfully fulgurated.

Gross left ventricular voltage with preexcitation in isolated left ventricular non-compaction.

A 30 years man presented with symptoms of heart failure with prior history of pulmonary tuberculosis, on routine investigation he was found to have gross left ventricular voltage on the electrocardiogram and evidence of ventricular pre-excitation. His echocardiogram confirmed the diagnosis of left ventricular non-compaction. The aetiopathogenesis, clinical features, diagnostic criteria and review of literature of this rare entity is discussed here.

Left atrial-coronary sinus dissociation following an attempt at radiofrequency ablation for a left lateral accessory pathway.

Coronary sinus electrograms generally represent the sequence of left atrial activation, and are very helpful in localizing and differentiating left lateral accessory pathway-mediated tachycardia from other supraventricular tachycardias. The activation of the coronary sinus from the left atrium occurs through muscle bridges, which may be discrete or form an intermingled continuum. These muscle bridges, if disconnected, may dissociate the coronary sinus from the left atrium, in which case the coronary sinus electrograms do not represent left atrial activation, and do not help to understand, or may cause misinterpretation of, the mechanism of supraventricular tachycardia. We report one such case of orthodromic supraventricular tachycardia mediated through the left lateral accessory pathway in which the coronary sinus got dissociated from the left atrium during radiofrequency ablation.

Anomalia de Ebstein / Ebstein's anomaly

A anomalia de Ebstein é uma mal-formação congênita resultante da implantação baixa da válvula tricúspide, levando a "atrialização" do ventrículo direito. As manifestações clínicas variam desde a fadiga até a insuficiência cardíaca congestiva. As arritmias cardíacas são freqüentes, geralmente supraventriculares, sendo a taquicardia atrial paroxística a mais comum. Os autores relatam o caso clínico de uma paciente com insuficiência ventricular direita e taquiarritmia supraventricular, cujos achados ecocardiográficos foram compatíveis com anomalia de Ebstein

Pre-excitation with syncope: a false lead?

An 18-year-old girl with pre-excitation presented with a history of recurrent syncope preceded by palpitation. The accessory pathway, which had a relatively long antegrade effective refractory period of 340 ms, was mapped and successfully ablated in the left lateral region. However, after ablation, she had reproducible sustained polymorphic ventricular tachycardia, which was found to be the cause of her syncope. Thus, alternate mechanisms of tachycardia need to be considered in patients with pre-excitation when the presentation is atypical.

Wolff-Parkinson-White syndrome associated to scimitar syndrome. Percutaneous radiofrequency catheter ablation previous to surgical repair

La asociación de los síndromes de Wolff-Parkinson-White y de cimitarra no ha sido reportada en la era de la ablación transcatéter. Presentamos nuestra experiencia en torno a la ablación percutánea con radiofrecuencia, un reto particular ante las modificaciones cardiacas propias del síndrome de cimitarra, y el seguimiento posquirúrgico para esta última.