Successful Heart Transplantation in a Patient with Neonatal Marfan Syndrome

Abstract

<h3>Introduction</h3> Neonatal Marfan syndrome (NMS) is a rare subtype of Marfan syndrome associated with more pronounced clinical characteristics. Patients with NMS often have more severe cardiac involvement, including atrioventricular valve prolapse and insufficiency and aortic root pathology. The development of a concurrent myopathy syndrome has not been described. We describe a case of a teenage girl with NMS who developed inotrope-dependent heart failure secondary to dilated cardiomyopathy requiring heart transplantation. <h3>Case Report</h3> The patient is a 16-year-old female with NMS, mitral valve prolapse and regurgitation, and aortopathy who underwent mitral valvuloplasty and valve-sparing aortic root replacement 5 years prior to presentation. Since that time, she had asymptomatic, progressively declining left ventricular systolic ejection fraction without progressive aortic valve or mitral disease. Her left ventricular ejection fraction was 20-25% at its nadir. Additionally, she had severe kyphosis requiring surgery three months prior to presentation and was dependent on GJ feeds for weight management. She presented in winter of 2020 with new onset heart failure requiring admission for milrinone which was unable to be weaned off due to a low cardiac output state and was listed for heart transplant on day 13 of admission. An acceptable heart became available, and she was transplanted on day 17 of admission. Her post-operative course was relatively uncomplicated. She developed ectopic atrial tachycardia, which is well-controlled with atenolol and propafenone. Whole exome sequencing confirmed that she is heterozygous for a ∼13.8 KB deletion within the <i>FBN1</i> gene, confirming her NMS diagnosis, as well as an additional novel deletion of exons 18 to 28 within <i>FBN1.</i> She has had no rejection and marked improvement in her quality of life evident by weaning off tube feedings, exercising regularly with long distance walking and attending senior year of high school. <h3>Summary</h3> The cardiac involvement in NMS and typical Marfan syndrome has generally been described as valve prolapse and aortopathy, although cardiomyopathy in the latter has been reported. Our teenage patient with NMS developed progressive LV systolic heart failure ultimately requiring a heart transplant. We believe patients with NMS that develop end-stage heart failure without treatment options should be considered for heart transplantation.