What is the clinical evidence from this study?

Study design: Case Report. Population: Danon disease (n=2). Intervention: Heart transplantation vs. Symptomatic treatment. Primary outcome: Clinical outcome (survival and cardiac function).

What does this research mean for the field?

LAMP2 mutation types correlate with Danon disease severity, with heart transplantation improving prognosis in severe cases. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.CHALLENGES_CONSENSUS.

What question did this study set out to answer?

This research aims to clarify how different LAMP2 mutations in Danon disease affect patient outcomes.

January 21, 2026Medicine0 citationsOpen Access

Danon disease: Two case reports and literature review

KYKun YuKunming Medical University BPBingnan PengThe Fourth People's Hospital of Zibo City DZDandan ZhaoQilu Hospital of Shandong University

Key Result

Heart transplantation led to normal cardiac function at 24 months in a 15-year-old with Danon disease, whereas a 12-year-old receiving only symptomatic treatment died of heart failure at 8 months.

Key Points

This research aims to clarify how different LAMP2 mutations in Danon disease affect patient outcomes.
Descriptive case reports of two male patients with Danon disease
Genetic testing to identify specific LAMP2 mutations
Follow-up on treatment outcomes and cardiac function
The 15-year-old patient underwent heart transplantation with improved cardiac function and normalized CK levels
The 12-year-old patient received only symptomatic treatment and died of heart failure
Distinct LAMP2 mutations correlate with varying severities of Danon disease

Study Design

Type

Case Report (n=2)

Structured PICO

Does heart transplantation improve prognosis in severe Danon disease compared to symptomatic treatment?

Population

2 male adolescents with Danon disease and distinct LAMP2 mutations, one receiving heart transplantation and the other symptomatic treatment.

Intervention

Heart transplantation followed by immunosuppressive therapy (in the 15-year-old patient).

Comparator

Symptomatic treatment without transplantation (in the 12-year-old patient).

Outcome

Survival, cardiac function, and creatine kinase (CK) levels.hard clinical

Heart transplantation improves prognosis in severe cases of Danon disease, emphasizing the importance of early diagnosis and intervention.

Abstract

Rationale: Danon disease (DD) is an X-linked lysosomal storage disorder caused by LAMP2 variants, with males presenting more severe phenotypes. However, evidence for genotype-phenotype correlation remains limited. This study reports 2 male DD patients with distinct LAMP2 mutations to clarify mutation-specific prognostic differences. Patient concerns: A 15-year-old male: chest tightness and palpitations, creatine kinase (CK) 3867 U/L, and hypertrophic cardiomyopathy. A 12-year-old male: exertional dyspnea and syncope, left ventricular ejection fraction 36%, left ventricular thrombus, and CK 5210 U/L. Diagnoses: Both were diagnosed with DD via genetic testing: the 15-year-old had a LAMP2 IVS6 + 1G > T splice mutation, and the 12-year-old carried a LAMP2 exon 1 deletion. Interventions: The 15-year-old underwent heart transplantation followed by immunosuppressive therapy. The 12-year-old received only symptomatic treatment without transplantation. Outcomes: The 15-year-old had normal cardiac function and normalized CK levels during 24-month posttransplant follow-up. The 12-year-old died of heart failure 8 months after diagnosis. Lessons: LAMP2 mutation types correlate with DD severity. Heart transplantation improves prognosis in severe cases, emphasizing the importance of early diagnosis and intervention.

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