A Rare Case of Alström Syndrome, Berlin Heart EXCOR, Heart Transplantation and 1-Year Follow-up

Objectives: Acute cardiogenic shock in infants forces to make intensivists and families an immediate, life-determining decision. When all other therapeutic options fail, left ventricular assist device (LVAD) implantation and listing for heart transplantation (HTX) can become the only chance to survive. But how do we deal with an unforeseen genetic diagnosis while on LVAD and the waiting list?

Methods: In a female term baby (birth weight [BW] = 3.3 kg), tachypnea and poor feeding began in the second month of life. Four weeks later, she deteriorated; presenting cardiogenic shock with beginning multiorgan failure and lactate acidosis refractory to medical therapy. Therefore with the parents’ agreement an LVAD (Berlin Heart EXCOR, 10 mL) was implanted as a bridging to transplant option. Over the course, her situation stabilized with recovery of all other organ functions. At the age of 6 months she developed photophobia and nystagmus. Ultimately, Alström syndrome (AS), a rare autosomal-recessive disease, was genetically confirmed. AS is a multisystemic disorder, including early cone-rod dystrophy entailing progressive visual impairment, hearing loss, obesity, diabetes, and multiple-organ fibrosis. Crucial is the great variability of symptom severity, time of onset, and progression. Nearly two-thirds develop congestive heart failure due to dilated cardiomyopathy (DCM) early in life and in some cases as the first symptom of AS. No follow-up after HTx has been published in this patient group so far.

Result: After ethical considerations, the child underwent successful HTx at the age of 10 months. She was discharged home 5 weeks later after an uneventful course. During 1-year HTx follow-up, she presented in a good clinical and cardiac condition without any rejection or infection in between. Cardiac function, coronary angiography, and myocardial biopsy were all normal. Despite a severe loss of visual function, she is in fact developing as a normal child and has exhibited no other AS symptoms to date. So far, there is no evidence of renal failure, dyslipidemia, or diabetes.

Conclusion: The prognosis of patients with AS might be determined by the occurrence of heart failure due to DCM. However in certain patients, heart transplantation may be a viable therapeutic option.