Unusually High Association of Hypertrophic Cardiomyopathy and Complex Heart Defects in Children with Fasciculoventricular Pathways

Vashist, Sudhir; Silva, Jennifer N. Avari; Hare, George F. Van; Papez, Andrew L.; Su, Wilber; Rhee, Edward K.

doi:10.1111/j.1540-8159.2011.03274.x

Cited by 5 publications

(5 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This clinical distinction is pertinent given the risk of sudden death with WPW syndrome in contrast to the benign clinical course of FVP . While a higher association of FVP has been recently reported in patients with hypertrophic cardiomyopathy and PRKAG2 variants, there is scarce literature on their presence in Danon disease . The purpose of this study is twofold.…”

Section: Introductionmentioning

confidence: 65%

“…Vashist et al found an increased incidence of FVPs in patients with complex structural heart defects, hypertrophic cardiomyopathies and chromosomal anomalies. In their study, two of the patients with FVP were found to have LAMP2 mutations . A recent study from China found that among patients with preexcitation and unexplained left ventricular hypertrophy ( n = 10), three had Danon disease.…”

Section: Discussionmentioning

confidence: 98%

“…5 While a higher association of FVP has been recently reported in patients with hypertrophic cardiomyopathy and PRKAG2 variants, there is scarce literature on their presence in Danon disease. [6][7][8] The purpose of this study is twofold. First, to elucidate the electrical properties and arrhythmia outcomes of patients with Danon disease at our institute, and second, to describe the presence of FV pathways in this population.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Arrhythmias and fasciculoventricular pathways in patients with Danon disease: A single center experience

Jhaveri

Herber

Zahka

et al. 2019

Cardiovasc electrophysiol

View full text Add to dashboard Cite

Background Danon disease is a rare X‐linked storage disorder characterized by hypertrophic cardiomyopathy leading to arrhythmias and heart failure. A preexcitation pattern on electrocardiogram (ECG) has been described in these patients, however, invasive studies to distinguish between Wolff‐Parkinson‐White syndrome syndrome and fasciculoventricular pathways (FVP) are limited. Objectives The purpose of this study was to delineate the electrophysiological cardiac abnormalities in patients with Danon disease and to describe the presence of FVP in this population. Methods We performed a retrospective study of all patients with a confirmed diagnosis of Danon disease presenting to a single center from May 2005 to May 2018. Baseline demographics, clinical characteristics, ECG findings, and electrophysiology study (EPS) results were collected. Results Ten patients with Danon disease (30% male, average age 17.4 years) were identified. Seven patients (70%) had tachyarrhythmias including five with atrial arrhythmias and six with nonsustained ventricular tachycardia. Preexcitation pattern on ECG was found in four (40%) patients. Of these, two underwent an EPS which confirmed the presence of an FVP. One patient underwent an adenosine challenge which supported a FVP. Implantable cardioverter defibrillator was placed in five patients for primary prevention with no patients receiving an appropriate discharge. Over a follow‐up of 5.3 years, five underwent heart transplantation. Conclusions This study reports a high incidence of FVP in patients with Danon disease and preexcitation. It underscores an alternate etiology of preexcitation in this population which can potentially be diagnosed without invasive EPS testing. Future multicenter studies are needed to expand this experience.

show abstract

Section: Introductionmentioning

confidence: 65%

Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Arrhythmias and fasciculoventricular pathways in patients with Danon disease: A single center experience

Jhaveri

Herber

Zahka

et al. 2019

Cardiovasc electrophysiol

View full text Add to dashboard Cite

show abstract

“…In such cases, large amounts of metabolic products may accumulate within the cardiomyocytes [1,18,19]. This finding has led many to believe that these products directly cause hypertrophy.…”

Section: Discussionmentioning

confidence: 99%

“…The PRKAG2 mutations are also of clinical interest due to a possible association with a Wolf-Parkinson-White-like syndrome and supraventricular tachycardia [18]. Using mouse models of PRKAG2 mutations, investigators have demonstrated that the source of pre-excitation was a result of disruption of the valve annular junctions by tracks of glycogen engorged cells rather than having a classic bypass tract [19]. Similar mechanisms for ventricular pre-excitation probably exist for other storage disease such as Danon’s, Pompe’s, and Fabray’s disease [18].…”

Section: Discussionmentioning

confidence: 99%

Combined obstructive hypertrophic cardiomyopathy and double outlet right ventricle in an infant with Down syndrome

2013

View full text Add to dashboard Cite

Patient: Male, 2Final Diagnosis: Obstructive hypertrophic cardiomyopathySymptoms: Congestive heart failureMedication: —Clinical Procedure: Left ventricular septal myectomy • repair of congenital heart diseaseSpecialty: CardiologyObjective:Rare diseaseBackground:Hypertrophic cardiomyopathy (HCM) is uncommon in Down syndrome (DS). When combined with congenital heart disease (CHD) both morbidity and mortality may be greater compared to CHD alone. Whether HCM in DS patients is related to having trisomy 21 versus a second site mutation is unknown.Case Report:We report a case of severe HCM in an infant with DS in combination with double outlet right ventricle (DORV) who required surgery for relive of sub-aortic obstruction and congestive heart failure. We predicted that this infant would have a second site mutation involving either a sarcomeric protein or metabolic disorder as a cause for his HCM. Using current genetic and metabolic testing as well as histologic assessment of excised cardiac tissue we sought to further characterize the nature of the HCM. A successful resection of sub-aortic stenosis and DORV repair was performed. Genetic and metabolic testing was negative for gene defects and/or syndromes commonly associated with familial HCM. Excised cardiac tissue from the ventricular septum exhibited myocyte hypertrophy and sub-endocardial fibrosis but no sarcomeric disarray, myocyte fibrosis or glycogen storage. Metabolic testing for common forms of mitochondrial disease was negative. Post-operative echocardiograms show persistent, non-obstructive septal hypertrophy.Conclusions:Unlike prior reports, this child required a surgical intervention to relieve his sub-aortic obstruction. Thus, HCM in this population can be more serious that previously suspected. Although testing did not reveal the cause of his HCM, we still suggest screening for known causes of HSC until the etiology of the HCM in DS is well understood.

show abstract

Genetic Arrhythmia Syndromes

Kean,

Kannankeril

2023

Pediatric Cardiology

View full text Add to dashboard Cite

Unusually High Association of Hypertrophic Cardiomyopathy and Complex Heart Defects in Children with Fasciculoventricular Pathways

Cited by 5 publications

References 19 publications

Arrhythmias and fasciculoventricular pathways in patients with Danon disease: A single center experience

Arrhythmias and fasciculoventricular pathways in patients with Danon disease: A single center experience

Combined obstructive hypertrophic cardiomyopathy and double outlet right ventricle in an infant with Down syndrome

Genetic Arrhythmia Syndromes

Contact Info

Product

Resources

About