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

Jhaveri, Simone; Herber, Joshua; Zahka, Kenneth G.; Boyle, Gerard J.; Saarel, Elizabeth V.; Aziz, Peter F.

doi:10.1111/jce.14049

Cited by 16 publications

(13 citation statements)

References 17 publications

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“…Wolff-Parkinson-White (WPW) pattern and pre-excitation due to fasciculoventricular pathways are seen in 33%–69% of male patients and 27%–43% of females. 6,8 In our cases, Wolff-Parkinson-White pattern was also evident on electrocardiogram, and in our second case, ventricular tachycardia attacks were also present. Skeletal myopathy manifests as proximal muscle weakness, myalgia, and limited exercise tolerance.…”

Section: Discussionsupporting

confidence: 62%

A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease

2023

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Danon disease is a rare and fatal disease caused by a mutation in the lysosome-associated membrane protein 2 gene. Impaired intracellular autophagy causes lysosomal vacuoles to accumulate mainly in myocardial and skeletal muscle cells, leading to hypertrophic cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. Two distinct childhood presentations of Danon disease are described in this report.

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Section: Discussionsupporting

confidence: 62%

A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease

2023

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“…Other ECG abnormalities included complete heart block, supraventricular tachycardia, fascioventricular pathways , delta waves and high precordial voltage . Heart block was present in 35–50% of cases, requiring pacemaker implantation.…”

Section: Clinical Features In Male Patientsmentioning

confidence: 99%

Review: Danon disease: Review of natural history and recent advances

Cenacchi

Papa

Pegoraro

et al. 2019

Neuropathology Appl Neurobio

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Danon disease is a severe multisystem disorder clinically characterized by hypertrophic cardiomyopathy, skeletal myopathy and mental retardation in male patients, and by a milder phenotype (predominantly involving cardiac muscle) in female patients. The disease is inherited as an X‐linked dominant trait. The primary deficiency of lysosome‐associated membrane protein‐2 (LAMP‐2) causes disruption of autophagy, leading to an impaired fusion of lysosomes to autophagosomes and biogenesis of lysosomes. We surveyed over 500 Danon disease patients reported in the literature from the first description to the present, in order to summarize the clinical, pathological and molecular data and treatment perspectives. An early molecular diagnosis is of crucial importance for genetic counselling and for therapeutic interventions: in male patients, the prognosis is poor due to rapid progression towards heart failure, and only heart transplantation modifies the disease course.

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“… [15] However, ventricular pre-excitation in some patients with Danon disease may be due to fasciculoventricular rather than atrioventricular pathways. [16] The patient described in this report was admitted to the hospital with ventricular tachycardia. During radiofrequency ablation, AVB repeatedly appeared, indicating that the atrioventricular node was functioning poorly.…”

Section: Discussionmentioning

confidence: 93%

A case report of delayed diagnosis of danon disease

Zhang

Ren²,

Zhou³

2020

Medicine

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Introduction: Danon disease is a rare X-linked dominant genetic disorder caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. Unless treated, cardiogenic death is the main cause of mortality. This case report describes a 19-year-old man who was diagnosed with Danon disease and survived for 3 years from symptom onset to death. The mutation in his LAMP2 gene (p.Gly221Ilefs∗19) had not been previously reported. Patient concerns: A 19-year-old man patient was hospitalized for intermittent palpitations. He had no family history of cardiomyopathy, arrhythmia, or sudden cardiac death, but his sister had died of cirrhosis at age 12 years, but the exact cause of cirrhosis was unknown. Diagnosis: Exome sequencing and Sanger sequencing identified a novel missense mutation (p.Gly221Ilefs∗19) in the LAMP2 gene of the proband. This mutation was also detected in his mother, confirming the diagnosis of Danon disease. Interventions: The patient experienced various types of arrhythmia throughout the clinical process, including Wolff–Parkinson–White syndrome, non-sustained atrial tachycardia, atrial flutter, and third-degree atrioventricular block. He was therefore treated with cardiac ablation procedures and cardiac resynchronization therapy. Outcomes: The period from the onset of symptoms to the onset of heart failure was 2 years. The patient died of cardiogenic death during the third year, at age 22 years. Lessons: Danon disease is a rare disease that is difficult to recognize because of its hidden early manifestations. Early identification of its clinical symptoms can lead to early diagnosis and treatment.

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

Cited by 16 publications

References 17 publications

A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease

A rare and fatal cause of hypertrophic cardiomyopathy: Danon disease

Review: Danon disease: Review of natural history and recent advances

A case report of delayed diagnosis of danon disease

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