430 Diagnosis and management of a case of biventricular arrhythmogenic cardiomyopathy: a case report

Abstract Arrhythmogenic cardiomyopathy (ACM) is a genetically determined heart muscle disorder characterized by fibro-fatty replacement of myocardium which may affect the right ventricle (‘dominant right’ variant), the left ventricle (‘dominant left’ variant) or both (‘biventricular disease’ variant). Despite of ACM is one of the main causes of sudden cardiac death (SCD) in young people and athletes as well, the diagnosis of this complex clinical entity still remains a challenge. We report on a case of a 29 years old non-athletic woman with family history of SCD and a long-standing personal history of palpitations leading to frequent accesses to the Accident & Emergency Department. Her echocardiogram was normal while twelve leads ECG revealed negative T waves in the right precordial leads (V1–V3) and post-excitation epsilon waves. ECG Holter monitoring recorded frequent (up to 17 000 in 24 h) polymorphic premature ventricular contractions (PVCs) seldom organized in couplets or triplets. She was followed-up in our clinic and started on Propanolol 40 mg bid with slight relief of symptoms and reduction of PVCs. Cardiac magnetic resonance (CMR) showed regional dyskinesia of both ventricles and RV dilatation. Moreover, tissue characterization findings revealed the presence of diffuse subepicardial late gadolinium enhancement (LGE) of the LV. Genetic analysis was performed and a variant of uncertain significance (VUS) in Desmoplakin was identified. Non sustained monomorphic ventricular tachycardia was induced during electrophysiologic study by programmed ventricular stimulation. In light of these results, we diagnosed biventricular ACM and, after carefully discussion with the patient, a subcutaneous implantable cardioverter defibrillator (ICD) was implanted. The present case should be a persisting reminder that must be considered more than just a single diagnostic tool when dealing with arrhythmic presentations especially in young patients and the importance of contrast CMR along with genetic testing in order to aid clinicians in the demanding selection of the best candidates for ICD implantation.

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Arrhythmogenic Cardiomyopathy

Slovenian Medical Journal ◽

10.6016/zdravvestn.2723 ◽

2019 ◽

Vol 87 (11-12) ◽

pp. 599-618

Author(s):

Blaž Podgoršek ◽

Gregor Poglajen ◽

Andraž Cerar ◽

Matjaž Šinkovec ◽

Bojan Vrtovec

Keyword(s):

Task Force ◽

Current Knowledge ◽

Diagnostic Yield ◽

Treatment Strategies ◽

Arrhythmogenic Cardiomyopathy ◽

Icd Implantation ◽

Fatty Replacement ◽

Current Task ◽

Advanced Stages ◽

The Right

Arrhythmogenic cardiomyopathy (AC) is a genetic disease of the myocardium characterized by fibro-fatty replacement of the apoptotic myocardium. It primarily affects the right ventricle, however in advanced stages of the disease the left ventricle can also be significantly affected. AC is a challenging diagnosis, especially in the early stages of the disease, and should be considered in all patients presenting with palpitations, syncope or sudden cardiac death when other, more common causes of these symptoms/signs are excluded. In patients with suspected AC, evaluation according to the current Task Force Criteria should be applied to achieve optimal diagnostic yield. The main therapeutic concern in AC patients is the prevention of SCD, and thus all patients with established diagnosis have to be evaluated for potential ICD implantation, which is indicated in the majority of symptomatic patients. In this narrative review we aim to outline current knowledge on the pathophysiology, diagnosis and treatment strategies of AC.

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The 2020 “Padua Criteria” for Diagnosis and Phenotype Characterization of Arrhythmogenic Cardiomyopathy in Clinical Practice

Journal of Clinical Medicine ◽

10.3390/jcm11010279 ◽

2022 ◽

Vol 11 (1) ◽

pp. 279

Author(s):

Francesca Graziano ◽

Alessandro Zorzi ◽

Alberto Cipriani ◽

Manuel De Lazzari ◽

Barbara Bauce ◽

...

Keyword(s):

Clinical Practice ◽

Diagnostic Criteria ◽

Tissue Characterization ◽

Task Force ◽

Positive Family History ◽

Standard Test ◽

Arrhythmogenic Cardiomyopathy ◽

Increased Risk ◽

Criteria For Diagnosis ◽

The Right

Arrhythmogenic Cardiomyopathy (ACM) is a heredo-familial cardiac disease characterized by fibro-fatty myocardial replacement and increased risk of sudden cardiac death. The diagnosis of ACM can be challenging due to the lack of a single gold-standard test: for this reason, it is required to satisfy a combination of multiple criteria from different categories including ventricular morpho-functional abnormalities, repolarization and depolarization ECG changes, ventricular arrhythmias, tissue characterization findings and positive family history/molecular genetics. The first diagnostic criteria were published by an International Task Force (ITF) of experts in 1994 and revised in 2010 with the aim to increase sensitivity for early diagnosis. Limitations of the 2010 ITF criteria include the absence of specific criteria for left ventricle (LV) involvement and the limited role of cardiac magnetic resonance (CMR) as the use of the late gadolinium enhancement technique for tissue characterization was not considered. In 2020, new diagnostic criteria (“the Padua criteria”) were proposed. The traditional organization in six categories of major/minor criteria was maintained. The criteria for identifying the right ventricular involvement were modified and a specific set of criteria for identifying LV involvement was created. Depending on the combination of criteria for right and LV involvement, a diagnosis of classic (right dominant) ACM, biventricular ACM or left-dominant ACM is then made. The article reviews the rationale of the Padua criteria, summarizes the main modifications compared to the previous 2010 ITF criteria and provides three examples of the application of the Padua criteria in clinical practice.

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P2279First clinical evaluation of subcutaneous implantable cardiac defibrillator in Brugada patients

European Heart Journal ◽

10.1093/eurheartj/ehz748.0756 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

V Probst ◽

G Clerici ◽

D Babuty ◽

N Badenco ◽

C Marquie ◽

...

Keyword(s):

Primary Prevention ◽

Secondary Prevention ◽

Operation Time ◽

Type I ◽

Inappropriate Shock ◽

Icd Implantation ◽

Pass System ◽

Increased Risk ◽

History Of ◽

The Right

Abstract Background Brugada syndrome (BrS) is an inherited arrhythmia syndrome with an increased risk of SCD. While Subcutaneous ICD (S-ICD) is a seductive approach to treat these patients, questions raised on the risk of inappropriate shock in this specific population. Objective The aim of this study was to evaluate the safety and the effectiveness of the S-ICD in BrS patients. Methods We prospectively enrolled 112 BrS patients implanted with S-ICD in 17 European centers. During the screening at least 2 vectors must be suitable but it was not necessary to check for the suitability of the ECG during sodium channel blocker or exercise test. S-ICD indications follow the current guidelines. Results Mean age of patients was 45±13 years, with 95 (85%) males. Implantation was performed in 91 (83%) patients for primary prevention and in 18 (16%) patients for secondary prevention. There is an indication of ICD replacement for 16 patients (14%): 13 lead defect (81%), 1 infection (6%) and 2 ICD end of life (13%). In this cohort, 57 patients (51%) had spontaneous type I BrS, 60 patients (55%) were symptomatic: 10 resuscitated SCD (17%) and 48 (83%) syncope. Implantation was performed under general anesthesia in 79 patients (71%). The mean operation time was 56±19 min. The lead was placed at the left side of the sternum in 102 patients (92%) and at the right side in 9 (8%). Sensing configuration was the primary vector for 46 patients (41%), secondary vector for 57 (51%) and alternative vector for 9 (8%). No complications occurred during implantation. During a mean follow-up of 15.6 months (0–39 months), 6 patients (5%) had at least one appropriate shock (n=9). The rate of appropriate shock was 4.5%/y. All the VF episodes were successfully treated with the first shock. One patient had VF ablation for recurrent VF. Among the 6 patients who received an appropriate shock, 3 (50%) were implanted for secondary prevention and 3 (50%) were implanted for primary prevention including 2 patients with a history of syncope and one asymptomatic patient. Twelve patients (11%) had at least one inappropriate shock (n=22) including 2 patients with respectively 8 and 4 inappropriate shocks due to T-wave oversensing. With the SMART pass system the first patient had no more inappropriate shock for now 2 years. The rate of inappropriate shock was 9%/y. One patient died of myocardial infarction. Five patients (4%) were hospitalized for complications (4 pocket or scar infections and 1 electrode failure). Conclusion Our initial experience showed that S-ICD is efficient to treat VF episode in BrS patients. In this population, the rate of inappropriate shock was 9%/y. In view of these results, S-ICD implantation seems to be efficient to protect BrS patients against SCD. Acknowledgement/Funding Investigator-Sponsored Research program, Boston Scientific

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Herpes zoster ophthalmicus following onabotulinumtoxinA administration for chronic migraine: A case report and literature review

Cephalalgia ◽

10.1177/0333102414544974 ◽

2014 ◽

Vol 35 (5) ◽

pp. 443-448 ◽

Cited By ~ 8

Author(s):

Paul M Gadient ◽

Jonathan H Smith ◽

Stephen J Ryan

Keyword(s):

Herpes Zoster ◽

Literature Review ◽

Chronic Migraine ◽

Young Patients ◽

Viral Reactivation ◽

Herpes Zoster Ophthalmicus ◽

Local Trauma ◽

Physician Awareness ◽

History Of ◽

The Right

Background There is a growing body of literature documenting local herpes zoster outbreak following procedures. The mechanism underlying these outbreaks remains elusive. We present a case of zoster following onabotulinumtoxinA (BTX) for migraine and a literature review. Methods Chart and literature review. Case A 72-year-old woman with chronic migraine received BTX injections for 3 years without incident. She had a history of thoracic zoster with subsequent post-herpetic neuralgia. In August 2013, 48 hours after receiving BTX injections, she developed a painful rash in the right V1 distribution consistent with herpes zoster ophthalmicus. One week later the rash had resolved without treatment. Literature review We identified 65 (including 2 from Juel-Jenson) cases of zoster reactivation following minor procedures. These cases tend to be in young patients without specific risk factors. Outbreaks characteristically occur at the level of exposure to local trauma. Discussion Our review suggests that local trauma, regardless of the nature of stimuli, may be sufficient for zoster reactivation. We hypothesize that the stressors in these reported cases exert a local epigenetic influence on viral transcription, allowing for viral reactivation. Conclusion Zoster is a potential complication of BTX administration for chronic migraine in adults. Physician awareness can reduce the significant morbidity associated with this disease.

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A Rare Cause of Supraventricular Ectopic Beats and Angina in a Young Patient

Journal Of Cardiovascular Emergencies ◽

10.2478/jce-2018-0010 ◽

2018 ◽

Vol 4 (2) ◽

pp. 106-109

Author(s):

Monica Jurcău ◽

Mariana Floria ◽

Bogdan Mazilu ◽

Anca Ouatu ◽

Daniela Maria Tanase

Keyword(s):

Coronary Artery ◽

Stress Test ◽

Young Patients ◽

Physical Exertion ◽

Diagnostic Techniques ◽

History Of ◽

Ectopic Beats ◽

Artery Disease ◽

One Year ◽

The Right

Abstract Introduction: We present the case of a young man with multiple atherosclerotic risk factors and a rare cause of angina and supraventricular ectopic beats. Case presentation: A 35-year-old man with one-year history of stable angina pectoris and supraventricular ectopic beats, without any medication, presented to the emergency room complaining of anterior chest pain that occurs at moderate physical exertion. The rest electrocardiogram, transthoracic echocardiography, and chest X-ray were normal; the exertion stress test was also normal, except for supraventricular ectopic beats (trigeminal rhythm). Due to the intermediate pre-test probability of coronary artery disease, he was evaluated using coronary computed tomography angiography. An anomalous origin of the right coronary artery from the left coronary sinus, with an inter-arterial course and without any atheroma plaques, was observed. During hospitalization the evolution was stable, without complications. The patient was further referred to a cardiac surgery clinic to evaluate the possibility of surgical treatment of this anomaly. Conclusions: Coronary artery anomalies are very rare; however, they present multiple implications in current practice. The most severe complication of this condition is represented by sudden death in young patients due to malignant ventricular arrhythmias. Imaging diagnostic techniques allow for a rapid, noninvasive diagnosis of this rare cause of angina.

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Chronic subdural hematoma

International Journal of Medical and Surgical Sciences ◽

10.32457//ijmss.v8i2.666 ◽

2021 ◽

pp. 1-7

Author(s):

Blanca Piedra Herrera ◽

Yanet Yanet Acosta Piedra

Keyword(s):

Subdural Hematoma ◽

Head Injuries ◽

Young Patients ◽

Chronic Subdural Hematoma ◽

Complete Recovery ◽

Computed Tomography Scan ◽

History Of ◽

Third Cranial Nerve Palsy ◽

The Right ◽

Tomography Scan

Chronic subdural hematoma (CSH) is a common neurosurgical pathology that is recognized as a consequence of minor head injuries that are usually diagnosed in senile patients, although it can occur in young patients without a history of trauma. The objective of this work is the presentation of a patient with a bilateral CSH, with unusual characteristics. Clinical case: a 46-year-old female patient with no history of head trauma or other concomitant pathology is presented, who consulted for a 15-day-old headache. Physical examination confirmed mydriasis, Hutchinson’s pupil, bilateral papilledema and exophoria of the right eye, third cranial nerve palsy, and trunk ataxia. She was cataloged with Glasgow 13. Early anti-cerebral edema treatment was performed and the manifestations largely disappeared. A computed tomography scan diagnosed a bilateral fronto temporal subdural hematoma with displacement of the midline structures to the left. She underwent emergency surgery and was discharged completely recovered three days later. Conclusion: HSC can present with different clinical forms, simulating expansive tumor processes, cerebrovascular attacks, dementias or neurological entities of another nature. The case management by clinicians and neurosurgeons was quick and effective, which explains that the patient had an early and complete recovery. In these cases, medical action is decisive in the success of the treatment.

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Low QRS voltage and atrial fibrillation precluding implantation of a subcutaneous implantable cardioverterdefibrillator in a patient with arrhythmogenic cardiomyopathy

Cardiogenetics ◽

10.4081/cardiogenetics.2017.7025 ◽

2017 ◽

Vol 7 (1) ◽

Author(s):

Peter C. Kahr ◽

Jan Steffel ◽

Alexander Breitenstein ◽

Thomas Wolber ◽

Laurent M. Haegeli ◽

...

Keyword(s):

Atrial Fibrillation ◽

Ventricular Arrhythmias ◽

Vascular System ◽

Persistent Atrial Fibrillation ◽

Hereditary Disease ◽

Fatty Tissue ◽

Arrhythmogenic Cardiomyopathy ◽

Foreign Material ◽

Icd Implantation ◽

The Right

Arrhythmogenic cardiomyopathy (AC) is a rare mostly hereditary disease, in which fibro-fatty tissue replaces cardiomyocytes. Typically, the first alterations of the disease can be encountered in the epicardium of the right ventricle in adolescent patients. From there, the disease usually progresses over time. Besides the development of heart failure, the clinical significance of the disease is determined by the predisposition to potentially lethal ventricular arrhythmias. Hence, a majority of patients with AC require an implantable cardioverter-defibrillator (ICD) to be protected from sudden cardiac death. A recently developed alternative to transvenous systems are subcutaneous ICDs (S-ICD), associated with a lower risk of device-related complications such as endocarditis since no foreign material is implanted within the heart and vascular system. In this report, we describe and discuss our experience with the implantation of a S-ICD in a patient with AC, who had low QRS voltage and persistent atrial fibrillation precluding successful S-ICD implantation, as well as the challenges encountered during subsequent transvenous lead implantation.

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Juvenile Osteochondritis Dissecans of the Knee. About A Case

Orthopaedic Journal of Sports Medicine ◽

10.1177/2325967117s00021 ◽

2017 ◽

Vol 5 (1_suppl) ◽

pp. 2325967117S0002

Author(s):

Ignacio Astore ◽

Juan Ignacio Agotegaray ◽

Ignacio Comba ◽

Luciana Bisiach

Keyword(s):

Osteochondritis Dissecans ◽

Femoral Condyle ◽

Young Patients ◽

Body Burden ◽

Acute Onset ◽

Type Iv ◽

Juvenile Osteochondritis Dissecans ◽

Osteosynthesis Material ◽

History Of ◽

The Right

Introduction: Juvenile osteochondritis dissecans is a pathology that affects the superficial articular cartilage and subchondral bone in patients with open physes. Treatment of this disease is based on patient’s age and the stage of the disease. Methods: 16-year-old patient, athlete, with a history of knee pain on the right side of acute onset, without traumatic history. A physical examination shows pain in the external compartment of the knee. MRI shows a stable lesion that involves the external femoral condyle, over a posterior area of 16 mm by 20mm. Crutches are indicate for walking without body burden. Symptoms continue for six months and there are no changes in MRI. It is decided to do a stabilization with a Herbert type screw. After the surgery, pain persists and in x-ray controls, osteointegration is not observed. Osteosynthesis material is extracted and mosaicplasty is performed. We used Guhl’s intraoperative classification. Results: In this case, for a young patient with Guhl’s lesion type III, the reduction with a Herbert type screw was indicated, as the lesion was stable, of a significant size and congruent. Lesion progressed to type IV in 6 months. Thus, mosaicplasty was performed, obtaining a good functional result according to the physical exam, with a complete range of flexion and extension. A second-look arthroscopic assessment was carried out 2 months after surgery, showing osteointegration and stability of the allogenic graft. Conclusion: The variable of stability of the fragment is very important when determining the treatment. Most of the stable lesions can be successfully treated with a conservative treatment. Also, it has been demonstrated that young patients have a higher rate of healing. Instead, unstable lesions require surgical treatment.

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TP10.1.3SARS-Cov-2 and Colitis: A Case Series

British Journal of Surgery ◽

10.1093/bjs/znab362.130 ◽

2021 ◽

Vol 108 (Supplement_7) ◽

Author(s):

Jessica Banks ◽

Dheepa Nair ◽

Richard Guy

Keyword(s):

Young Patients ◽

Case Series ◽

Gi Tract ◽

Ischaemic Colitis ◽

Emergency General Surgery ◽

Medical Comorbidities ◽

Gi Symptoms ◽

Nasal Swabs ◽

History Of ◽

The Right

Abstract Background Up to a third of patients with COVID-19 infection present with gastrointestinal (GI) symptoms. The Sars-Cov-2 virus enters enterocytes through a novel mechanism via ACE- 2 receptors, which are expressed throughout the GI tract, especially in the mid-gut. Small bowel and colonic inflammation and alteration of the gut microbiome (“altered inflammasome”) have been observed. Aims We report a cluster of cases during the first and second wave UK pandemics involving young patients with unexplained segmental CT-proven colitis. Methods All patients diagnosed with CT proven colitis with no history of IBD, ischaemic colitis or significant medical comorbidities were included. Results Fifteen patients (median age 33 years; 8 females) were admitted under Emergency General Surgery between Mar 2020 & Jan 2021. All patients were previously well with no history of IBD, ischaemic colitis or significant medical comorbidities. Thirteen patients underwent CT imaging, showing evidence of colitis in 12, with changes affecting the right colon predominating. Campylobacter jejuni was identified in 4 of 7 stool cultures but only 1 patient had a positive PCR nasal swab and another had COVID antibodies detected in serum. Endoscopic and histological appearances of those undergoing colonoscopy were non-specific. Conclusion These cases may represent Covid-19 involvement of the gut. Nasal swabs are not validated for use in the GI tract and detection of SARS-Cov-2 virus requires faecal or mucosal sampling. Disruption of the microbiome permits emergence of pathogenic species such as Campylobacter. More work is required in this important area to further define and elucidate COVID-19 GI involvement.

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Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features

Circulation Genomic and Precision Medicine ◽

10.1161/circgen.120.003097 ◽

2021 ◽

Author(s):

Alice Ghidoni ◽

Perry M. Elliott ◽

Petros Syrris ◽

Hugh Calkins ◽

Cynthia A. James ◽

...

Keyword(s):

Heart Failure ◽

Clinical Features ◽

Genetic Screening ◽

Rare Variants ◽

Family Members ◽

Arrhythmogenic Cardiomyopathy ◽

Cascade Screening ◽

Pathogenic Variants ◽

Fatty Replacement ◽

The Right

Background - Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease characterized by fibro-fatty replacement of the right and/or left ventricle, often causing ventricular dysfunction and life-threatening arrhythmias. Variants in desmosomal genes account for up to 60% of cases. Our objective was to establish the prevalence and clinical features of ACM stemming from pathogenic variants, in the non-desmosomal cadherin 2 ( CDH2 ), a novel genetic substrate of ACM. Methods - A cohort of 500 unrelated patients with a definite diagnosis of ACM and no disease-causing variants in the main ACM genes was assembled. Genetic screening of CDH2 was performed through next-generation or Sanger sequencing. Whenever possible, cascade screening was initiated in the families of CDH2 -positive probands, and clinical evaluation was assessed. Results - Genetic screening of CDH2 led to the identification of 7 rare variants: five, identified in 6 probands, were classified as pathogenic or likely pathogenic. The previously established p.D407N pathogenic variant was detected in 2 additional probands. Probands and family members with pathogenic/likely pathogenic variants in CDH2 were clinically evaluated, and along with previously published cases, altogether contributed to the identification of gene-specific features (13 cases from this cohort and 11 previously published, for a total of 9 probands and 15 family members). Ventricular arrhythmic events occurred in most CDH2 -positive subjects (20/24, 83%), while the occurrence of heart failure was rare (2/24, 8.3%). Among probands, sustained ventricular tachycardia and/or sudden cardiac death occurred in 5/9 (56%). Conclusions - In this worldwide cohort of previously genotype-negative ACM patients, the prevalence of probands with CDH2 pathogenic/likely pathogenic variants was 1.2% (6/500). Our data show that this cohort of CDH2 -ACM patients has a high incidence of ventricular arrhythmias, while evolution toward heart failure is rare.

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