Reversal of systolic dysfunction in noncompaction and Wolff-Parkinson-White syndrome after accessory pathway ablation.

In a previously healthy asymptomatic 18-year old male, Wolff-Parkinson-White syndrome (WPW) with left ventricular hypertrabeculation/noncompaction (LVHT) and systolic dysfunction was detected. Holter monitoring disclosed multiple long episodes of supraventricular tachycardia with a heart rate of about 110/min. After radiofrequency ablation of an epicardial posteroseptal accessory pathway with ante- and retrograde conduction, systolic function gradually normalized without any pharmacotherapy. After 32 months of follow-up, the patient remains asymptomatic with normal systolic function. WPW-induced tachycardiomyopathy may even occur in asymptomatic patients, who are so adapted to their arrhythmias that they do not recognize them. .

Subcutaneous implanted cardioverter-defibrillator in ventricular noncompaction, coronary artery disease and stroke.

Left ventricular hypertrabeculation/noncompaction (LVHT) is associated with arrhythmias. Guidelines for prevention of sudden cardiac death by implanted cardioverter-defibrillator (ICD) also apply to LVHT-patients. Right ventricular perforation by the ICD-lead is a matter of concern. Subcutaneous ICD (S-ICD) may overcome disadvantages of transvenous ICD in patients without a need for pacing therapy. We report a LVHT-patient with arterial hypertension, hyperlipidemia, coronary artery disease with an anterior-wall myocardial infarction 2004 and stroke without neurological deficits in 2018. Since ejection fraction of 33% remained unchanged despite bisoprolol, sacubitril/valsartan and spironolactone, he was treated with S-ICD for primary prevention of sudden cardiac death.

Takotsubo as Initial Manifestation of Non-Myopathic Cardiomyopathy Due to the Titin Variant c.1489G > T.

Background: Whether patients with subclinical cardiomyopathy (CMP) are more prone to experience Takotsubo syndrome (TTS) than patients without CMP, is unknown. We present a patient with TTS as the initial manifestation of a hitherto unrecognized genetic CMP. Method: case report. Results: At age 55 after the unexpected death of her father, a now 61-year-old female had developed precordial pressure. Work-up revealed moderately reduced systolic function, dyskinesia of the interventricular septum, and indications for a TTS. Coronary angiography was normal but ventriculography showed TTS. Cardiac MRI confirmed reduced systolic function and TTS. TTS resolved without treatment and sequelae. At age 57 atrial fibrillation was recorded. After deterioration of systolic function at age 59 dilated CMP was diagnosed. Despite application of levosimendan, sacubitril, valsartan, and ivabradine, complete remission could not be achieved. Upon genetic work-up by means of a gene panel, the heterozygous mutation c.1489G > T (p. E497X) in exon 9 of the titin gene was detected and made responsible for the phenotype. Neurological work-up precluded involvement of the skeletal muscles. The further course was complicated by ventricular arrhythmias, requiring implantation of an implantable cardioverter defibrillator (ICD). CONCLUSIONS: previously subclinical CMP may initially manifest as TTS. Since patients with titin CMP are at risk of developing ventricular arrhythmias and thus to experience sudden cardiac death, appropriate anti-arrhythmic therapy needs to be established.

Wolff-Parkinson-White syndrome and noncompaction in Leber's hereditary optic neuropathy due to the variant m.3460G>A.

This report describes a 66-year-old Caucasian male who acutely developed severe, bilateral impairment of visual acuity at 24 years of age. Leber's hereditary optic neuropathy (LHON) was suspected but the diagnosis was not genetically confirmed until the age of 49 years when the primary LHON mutation m.3460G>A was detected. Since onset, visual acuity had slightly improved. The family history was positive for LHON (brother, two sisters of mother, female cousin) and genetically confirmed in his brother and one aunt. Since the age of 65 years, he had experienced recurrent vertigo. His cardiological history was positive for arterial hypertension, noncompaction, myocardial thickening, intermittent right bundle-branch-block (RBBB) and Wolff-Parkinson-White (WPW) syndrome. In addition to LHON, he presented with polyneuropathy, hyperCKaemia, carotid artery occlusion, and a history of stroke. Cardiological investigations at 66 years of age revealed mildly reduced systolic function, enlarged atria, and nonsustained ventricular tachycardias. He underwent an electrophysiological investigation, but radiofrequency ablation was ruled out due to a 'bizarre' cardiac conduction system. Instead, an implantable cardioverter defibrillator was proposed but refused by the patient. Since the vertigo did not resolve it was attributed to polyneuropathy. This case demonstrates that LHON may be associated with noncompaction, myocardial thickening, reduced systolic function, enlarged atria, RBBB, WPW syndrome and nonsustained ventricular tachycardias. WPW syndrome in LHON may require invasive antiarrhythmic treatment.

Coronary ectasia in amyloid cardiomyopathy and neuropathy due to the transthyretin mutation c.323A>G.

BACKGROUND: atrial fibrillation(AF) is a frequent manifestation of cardiac involvement in genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA). However, ectasia of coronary arteries and ablation for AF have not been reported in TTR-FA. METHODS AND RESULTS: A 65yo male developed progressive sensori-motor polyneuropathy since age 59y. At age 60y bifascicular block and myocardial thickening were recognised. At age 62y heart failure developed and work-up with cardiac MRI suggested amyloidosis but biopsy was non-informative. Coronary angiography revealed ectasias of the coronary arteries. At age 65y AF developed, neither responding to electrical cardioversion nor ablation. Work-up for polyneuropathy revealed the point mutation c.323A>G (p.His108Arg) in the TTR-gene. Tafamidis was started but did not exhibit a beneficial effect after 7 months. CONCLUSIONS: TTR-FA may manifest in the coronary arteries with ectasia. Ablation for AF in TTR-FA may be unsuccessful. Tafamidis has been unsuccessful for cardiac or nerve involvement after the first seven months.

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.

Repeated radiofrequency ablation of atrial tachycardia in restrictive cardiomyopathy secondary to myofibrillar myopathy.

Myofibrillar myopathy is characterized by nonhyaline and hyaline lesions due to mutations in nuclear genes encoding for extra-myofibrillar or myofibrillar proteins. Cardiac involvement in myofibrillar myopathy may be phenotypically expressed as dilated, hypertrophic, or restrictive cardiomyopathy. Radiofrequency ablation of atrial fibrillation and flutter has so far not been reported in myofibrillar myopathy. We report the case of a young female with myofibrillar myopathy and deteriorating heart failure due to restrictive cardiomyopathy and recurrent atrial fibrillation and atrial tachycardias intolerant to pharmacotherapy. Cardiac arrhythmias were successfully treated with repeat radiofrequency ablations and resulted in regression of heart failure, thus postponing the necessity for cardiac transplantation.

Catheter ablation of multiple accessory pathways in duchenne muscular dystrophy.

A 23-year-old male with Duchenne muscular dystrophy (DMD) experienced self-limiting palpitations at age 19 years for the first time. Palpitations recurred not earlier than at age 23 years, and were attributed to narrow complex tachycardia, which could be terminated with adenosine. Since electrocardiography showed a delta-wave, Wolff-Parkinson-White (WPW) syndrome was diagnosed, ajmaline prescribed and radio-frequency catheter ablation of three accessory pathways carried out one week later. One day after ablation, however, a relapse of the supraventricular tachycardia occurred and was terminated with ajmaline. Re-entry tachycardia occurred a second time six days after ablation, and as before, it was stopped only with ajmaline. Despite administration of verapamil to prevent tachycardia, it occurred a third time four months after ablation. This case shows that cardiac involvement in DMD may manifest also as WPW-syndrome. In these patients, repeated radio-frequency catheter ablation of accessory pathways may be necessary to completely block the re-entry mechanism.

Novel c.367_369del LMNA mutation manifesting as severe arrhythmias, dilated cardiomyopathy, and myopathy.

OBJECTIVE: The 3-bp deletion in exon 2 of the Lamin A/C (LMNA) gene has not been described in association with dilated cardiomyopathy, which is characterized by progressive heart failure, atrioventricular (AV) block, tachyarrhythmias, and variable skeletal muscle involvement. CASE REPORT: In a 43-year-old woman with a long-term history of palpitations and newly diagnosed AV blocks I and II, ventricular ectopic beats, inducible nonsustained ventricular tachycardias (VTs), cardiac arrest, and successful resuscitation, an implantable cardioverter defibrillator was successfully implanted. Her family history was positive for sudden cardiac death (her father and sister), dyspnea and heart failure (her grandmother and sister), palpitations (her brother), and elevated levels of creatine-kinase (CK) (her sister). Two cousins had died of nonspecific muscular dystrophy at ages 10 years and 11 years. Upon neurological investigations revealing sore neck muscles, reduced tendon reflexes, and detached, spot-like white matter lesions bilaterally, a neuromuscular disorder was suspected. The direct sequencing of all exons and flanking intronic regions of the LMNA gene detected the heterozygote 3-bp deletion (AAG) c.367_369del in exon 2 of the gene. This mutation resulted in the deletion of a lysine at position 123 (p.lys123del) in the lamin A/C protein. CONCLUSIONS: The novel 3-bp deletion in exon 2 of the LMNA gene may phenotypically manifest as dilated cardiomyopathy, heart failure, severe tachyarrhythmias, and muscular dystrophy. Sudden cardiac death from ventricular fibrillation may be prevented in LMNA mutation carriers if the diagnosis is established early enough to implant a cardioverter defibrillator.

Flecainide versus ibutilide for immediate cardioversion of atrial fibrillation of recent onset.

AIMS: This study compared the efficacy and safety of intravenous flecainide and ibutilide for immediate cardioversion of atrial fibrillation (AF). METHODS AND RESULTS: We conducted a prospective, randomised trial, including 207 patients with AF of recent onset (< or = 48 h). Flecainide was given over 20 min at a dose of 2 mg/kg body weight (maximum 200 mg), ibutilide was infused at a dose of 1 mg (or 0.01 mg/kg if less than 60 kg) over 10 min, followed by a 10 min observation period and an identical second dose if AF did not convert to sinus rhythm (SR). Treatment was considered successful if SR occurred within 90 min of starting medication. The conversion rates were 56.4% in patients given flecainide and 50.0% in patients given ibutilide (P=0.34). Multivariate analysis revealed that a lower age for women independently increased the probability of conversion. None of the other variables, including left atrial size, left ventricular systolic function, presence of left ventricular hypertrophy, plasma levels of potassium or magnesium at baseline, or concomitant use of digoxin, beta-blocker, diltiazem or verapamil were predictors of conversion. The frequency of adverse events was comparable in the two treatment groups. CONCLUSIONS: There was no significant difference in the cardioversion efficacy or in the risk of adverse events between flecainide and ibutilide in patients with AF of recent onset. In patients without contraindications to both medications, the physician's choice has to be governed by other factors.

Oral anticoagulation for ECG tremor artefact simulating atrial fibrillation.

That tremor simulates atrial fibrillation and causes oral anticoagulation has not been reported. In a 69-year-old patient with diabetes, arterial hypertension and recurrent strokes, hand tremor developed since 1998. In September 2000 atrial fibrillation was diagnosed upon a routine and 24-hour ambulatory ECG. Because of the additional risk factors for stroke/embolism, phenprocoumon was begun. The diagnosis was changed to paroxysmal AF upon the following ECGs, showing sinus rhythm. Not earlier than 1 year after establishing the diagnosis,"atrial fibrillation" was identified as being due to a tremor artefact. Phenprocoumon was discontinued. Neurological investigations revealed Parkinson's disease as the cause of the tremor. Three weeks after initiation of pramipexol, the tremor artefact was no longer visible on ECG. Misinterpreting an ECG-artefact due to Parkinsons's tremor as atrial fibrillation may be followed by unnecessary diagnostic and therapeutic procedures, including long-term oral anticoagulation. Upon adequate treatment of Parkinson's disease, the tremor artefact immediately disappears from the ECG.

Reflux esophagitis in the pathogenesis of paroxysmal atrial fibrillation: results of a pilot study.

BACKGROUND: We sought to assess whether proton pump inhibitor (PPI) therapy of gastroesophageal reflux disease (GERD) in patients with lone paroxysmal atrial fibrillation (PAF) leads to a reduction of PAF-related symptoms. METHODS: The records of patients with reflux esophagitis were screened for the diagnosis of lone PAF. All patients with reflux esophagitis and lone PAF were invited for a follow-up visit, at which PAF- and GERD-related symptoms, medication, and electrocardiogram were recorded. RESULTS: Among 89 patients, 18 (6 women, aged 39-69 years) had lone PAF. Decrease or disappearance of at least one PAF-related symptom occurred in 14 of 18 patients (78%) after PPI therapy. In two of the remaining four patients, GERD-related symptoms persisted. Antiarrhythmic drugs were discontinued in five patients, and none had to be increased in dosage or newly prescribed. The electrocardiogram showed sinus rhythm in all patients. CONCLUSION: In lone PAF, GERD should be investigated as a potential pathogenetic mechanism. PPI therapy reduces not only GERD-related but also PAF-related symptoms.