Consensus statement: indication and outcome

“Cardiac transplantation may be required for those in whom end-stage cardiomyopathy develops.” (opens the source at this quote in a new tab)
“Post-transplantation survival in patients with Danon disease appears to be similar to that in patients with other cardiomyopathies.” (opens the source at this quote in a new tab)
“The prognosis is especially favorable in women.” (opens the source at this quote in a new tab)
“Despite the presence of extracardiac involvement including skeletal muscle disease, which may limit rehabilitation, post-transplantation outcomes are good.” (opens the source at this quote in a new tab)

Consensus statement: immunosuppression considerations after transplantation

“Specific considerations include the use of steroid-sparing immunosuppressive agents to mitigate the risk of myopathy.” (opens the source at this quote in a new tab)
“Furthermore, there is a theoretical risk of increased cellular autophagy with sirolimus, an mTOR inhibitor, which can worsen muscle weakness; however, this has not been observed thus far in contemporary cohorts.” (opens the source at this quote in a new tab)

Consensus statement: assessment to time transplantation

“Closer follow-up care is required in advanced stages when cardiopulmonary exercise testing and right heart catheterization should be scheduled to guide optimal timing for heart transplantation.” (opens the source at this quote in a new tab)

Italian Society of Cardiology position paper: transplantation recommendation that names Danon disease

“Orthotopic heart transplantation should be considered in patients with severe HF symptoms with evidence of refractoriness to medical therapy, intractable arrhythmias.” (opens the source at this quote in a new tab)

GeneReviews: timely consideration of transplantation

“Timely consideration of cardiac transplantation in those w/progressive symptoms or significant ↓ in left-ventricular ejection fraction” (opens the source at this quote in a new tab)

AHA/ACC hypertrophic cardiomyopathy guideline: referral with preserved ejection fraction, in text that does not name Danon disease

“Transplant referral does not absolutely require reduced EF, because patients with preserved EF may also develop advanced HF with restrictive physiology or intractable ventricular arrhythmias.” (opens the source at this quote in a new tab)

Multicenter transplant cohort: 38 recipients from 8 centers

“The clinical phenotype and outcome data of patients with DD who underwent cardiac transplantation (n = 38; 19 males and 19 females) were obtained from 8 centers.” (opens the source at this quote in a new tab)
“Median follow-up time after transplantation for the entire cohort was 4.4 years (IQR: 1.5-12.8 years).” (opens the source at this quote in a new tab)

Multicenter transplant cohort: age and ejection fraction at transplantation

“The median age at transplant for the cohort was 20.2 years (15.8-27.9 years), with no difference in age between sexes.” (opens the source at this quote in a new tab)
“Median pretransplant left-ventricular ejection fraction for the entire cohort was 30% (range 11%-84%).” (opens the source at this quote in a new tab)

Multicenter transplant cohort: deaths, retransplantation, and 5-year graft survival

“There were 2 deaths in the entire cohort and 2 retransplants.” (opens the source at this quote in a new tab)
“There was no difference in actuarial graft survival between males and females (P = 0.8965); the estimated graft survival was 87.1% (95%CI: 63.6%-95.9%) at 5 years.” (opens the source at this quote in a new tab)

Multicenter transplant cohort: rejection

“One episode (2.7%) of antibody-mediated rejection, grade 2, and 7 episodes (19%) of acute cellular rejection, grade 2 or 3, were reported in patients who survived to discharge (6 females and 1 male; P = 0.172).” (opens the source at this quote in a new tab)

Age at transplantation in females: two age groups in an unpublished subanalysis

“Specifically, the median age for transplantation in this cohort was 20.2 years.” (opens the source at this quote in a new tab)
“In an unpublished subanalysis of the same data that stratified by transplantation age groups <25 years old and ≥25 years old, comparison of median age in these 2 groups revealed 2 separate age cohorts in female individuals who had undergone transplantation: those with a median age of 16.9 years and those with a median age of 36.6 years (personal communication, September 2021).” (opens the source at this quote in a new tab)

Frequency of transplantation in the International Danon Disease Registry

Group	Number transplanted	Percentage
Male participants (n = 52)	“17”	“32.7”
Female participants (n = 64)	“13”	“20.3”
All participants (n = 116)	“30”	“25.9”

Average age at transplantation in a pooled case series

“Men had a high morbidity and were unlikely to reach the age of 25 years without a cardiac transplantation.” (opens the source at this quote in a new tab)
“Combining our data with that of 63 other Danon disease case reports in the literature, the average ages of first symptom, cardiac transplantation, and death were 12.1, 17.9, and 19.0 years in men and 27.9, 33.7, and 34.6 years in women, respectively.” (opens the source at this quote in a new tab)

European registry: deaths within one year in male recipients of a transplant or assist device

“Eight males and 8 females (28%) underwent heart transplantation or received a left ventricular assist device (LVAD).” (opens the source at this quote in a new tab)
“Five of the 8-heart transplant/assist device male recipients (62%) died within one year from the procedure.” (opens the source at this quote in a new tab)
“Causes of death after heart/LVAD transplantation were variable and include heart failure, rejection, stroke, and an early post-transplant non-Danon related death.” (opens the source at this quote in a new tab)
“No death was reported among females receiving a heart transplant during a mean follow up of 10.6±5.6 years (range 4-17).” (opens the source at this quote in a new tab)

European registry: authors' comments on transplantation in males

“With few remaining options, the transplant clinic should be prepared to deal with neuromuscular complications (e.g., post-transplant myopathy) and psychiatric issues that may occur in the peri- and postoperative period.” (opens the source at this quote in a new tab)
“While there are numerous case reports of successful heart transplantation in DD males, cases with adverse outcomes are less likely to be reported.” (opens the source at this quote in a new tab)

Single-center long-term follow-up: 4 recipients

“We report on long term follow up (14.7 years, IQ range 9-21 years) of 4 patients, transplanted for Danon disease cardiomyopathy” (opens the source at this quote in a new tab)

Transplantation in three small center or family series

“Three patients required cardiac transplantation (ages 15, 27, and 42).” (opens the source at this quote in a new tab)
“A timely diagnosis and an early referral for cardiac transplantation is crucial for improved outcomes.” (opens the source at this quote in a new tab)

“One patient was successfully treated by heart transplantation with more than 5-year follow-up.” (opens the source at this quote in a new tab)

“Heart transplantation should be considered at onset of heart failure symptoms owing to rapid progression of the disease.” (opens the source at this quote in a new tab)

Transplantation in Japan: one recipient among 39 participants

“Only one female patient received a heart transplant, which is the most effective therapy.” (opens the source at this quote in a new tab)

Skeletal muscle weakness after transplantation and corticosteroid withdrawal: two cases

“In both patients, the post-transplant course was complicated by profound skeletal muscle weakness that resolved with corticosteroid withdrawal.” (opens the source at this quote in a new tab)
“Corticosteroid use may exacerbate skeletal myopathy, and therefore, steroid minimization may be warranted whenever possible.” (opens the source at this quote in a new tab)

Late weakness after transplantation that led to the diagnosis: single case

“We report a case of late-progressive, profound weakness after heart transplantation for noncompaction cardiomyopathy which required prolonged mechanical ventilation.” (opens the source at this quote in a new tab)
“The patient's muscle strength recovered completely after prolonged rehabilitation.” (opens the source at this quote in a new tab)

Cardiac allograft vasculopathy and retransplantation: single case

“He subsequently developed severe cardiac allograft vasculopathy that led to graft failure requiring a redo orthotopic heart transplant.” (opens the source at this quote in a new tab)
“This is one of only two reported Danon disease cases described to date surviving repeat orthotopic heart transplants.” (opens the source at this quote in a new tab)

Fatal thrombotic microangiopathy after pediatric transplantation: single case

“This case describes an uncommon acute complication of diffuse thrombotic angiopathy and associated aHUS/TTP in an 11-year-old girl with Danon disease who underwent orthotopic heart transplant.” (opens the source at this quote in a new tab)
“Shortly after transplant, despite an uncomplicated operative course, the patient developed severe kidney injury and progressive altered mental status, culminating in cerebral edema, brain herniation, and death.” (opens the source at this quote in a new tab)

Psychiatric and cognitive decline 15 years after transplantation: single case

“Another 38-year-old male patient transplanted 15 years previously developed depression, cognitive decline with dementing features, and severe paranoia necessitating psychiatric hospitalization (un-published data).” (opens the source at this quote in a new tab)

Rehabilitation after transplantation

“cardiac rehabilitation teams should be alert for the presence of underlying proximal and distal muscle weakness in both males and females that may lead to a more protracted recovery in the post-transplantation period.” (opens the source at this quote in a new tab)

United States benchmark: survival after heart transplantation for any diagnosis

“In 2023, 5-year posttransplant survival was 80.3% in adult recipients and 84.4% in pediatric recipients.” (opens the source at this quote in a new tab)
“Overall 1-year and 3-year patient survival were 91.5% and 85.9%, respectively” (opens the source at this quote in a new tab)