Heart transplantation - A beacon of hope for patients with end stage cardiomyopathy due to fabry disease: A systematic review

Title : Heart transplantation - A beacon of hope for patients with end stage cardiomyopathy due to fabry disease: A systematic review

Abstract:

Introduction: Fabry disease (FD) is a rare X- linked disorder caused by the mutation in α-galactosidase A gene. End-stage cardiomyopathy is the leading cause of death among these patients. Heart transplant (HT) emerges as a viable therapeutic option when enzyme replacement therapy (ERT) proves to be insufficient or ineffective.

Method: Pubmed database was searched using keywords “Fabry disease” AND “cardiac transplantation” from 1970 to 2024. All relevant case reports were included.

Results: 5 relevant case reports (N=6) were included in this systematic review out of which all patients post-cardiac transplant for FD had good long term outcomes and quality of life. Verocai et. al. (N= 1) described a FD female who was still alive at 14 years post-HT with no evidence of recurrence in any of the endomyocardial biopsies (EMB). Tran Ba et. al. (N=2) described two brothers who underwent combined heart and kidney transplant at respectively 49 and 42 years of age. Both showed no recurrence of disease at respectively 4 and 9 years after transplantation. Rajagopalan et. al. (N=1) described a 62 Y.O M who underwent heart and renal transplantation for advanced cardiomyopathy and nephropathy secondary to FD. At 6 months, he reported dyspnea on exertion and a diagnosis of constrictive pericarditis was made with biopsies showing no evidence of disease recurrence. Symptoms resolved completely after pericardiectomy and he did well for several years post-transplantation. Karras et. al (N=1) described a 40 Y.O M who had worsening LV mass despite 12 months of ERT. He underwent combined heart and kidney transplant and had marked improvement in clinical status. At his 2 year evaluation, he showed no signs of deterioration. Cantor et. al (N=1) described a 53 Y.O F who did well after HT for end stage restrictive cardiomyopathy secondary to FD. Her EMB upto one year post-transplant did not show any inclusions suggestive of FD recurrence.

Conclusion: FD is an uncommon indication for heart transplantation. The cases described provide substantial evidence that HT can provide a new chance to these patients with extremely high cardiovascular mortality. More research is required to study the long term success of HT in end-stage cardiomyopathy FD population.

Biography:

Dr. Ayushi Mohan, MD is a dedicated and compassionate physician currently pursuing her M.D. at New York Medical College. She trained at Kasturba Medical College, India for her medical school. Throughout her medical journey, Dr. Mohan has demonstrated a strong commitment to clinical excellence, research, and community service. Dr. Mohan is also highly involved in academic research, with multiple publications in top-tier journals such as Circulation, Journal of Cardiac Failure, and Journal of American College of Cardiology. Her research spans various cardiovascular topics, including myocardial infarction, heart failure therapies, and cardiac transplantation. She has been an active contributor to numerous peer-reviewed abstracts and has presented her findings at major medical conferences. A proactive volunteer, Dr. Mohan has contributed to several initiatives, including organizing educational campaigns on COVID-19, heart disease awareness, and basic life support training. She has also been recognized with awards for her volunteerism, including the "Corona Warrior" recognition from the Delhi Government for her work during the pandemic. Outside of medicine, Dr. Mohan is passionate about soccer, pickleball, poetry, playing the piano, and dancing. She is also an advocate for resident wellness, serving in various leadership roles to promote fitness, social engagement, and work-life balance within her residency program.