Children with heart transplants: Lessons learned from 774 visits at a primary community clinic.

Aims Unexpected decompensation of PHTRs may surprise, when the patient is at home. If the PHTR lives a distance from transplant center, the task of identifying risk factors of allograft rejection/dysfunction falls primarily on the PCP in the PCC, whether or not they are knowledgeable toward pediatric heart-transplantation. Methods We reviewed the medical reports of three heart-transplanted children in our periphery clinic between the years 2005 and 2019. Results The unexpected death of one patient, hours after he left our health facility, was the impetus for writing this article. Another heart transplant child attended our periphery clinic for 774 visits. Majority of visits were casual, others were scheduled, and the rest were for administrative affairs. We referred the PHTR to the transplantation center in 9% of all visits. In remaining 91% visits, we handled problems locally. Conclusions One of the important lessons we have learned through handling the PHTR at the PCC is that, during daily workflows and dealing with the occasional visits of a heart transplant child, related critical clinical information to allograft rejection or its dysfunction can easily evade from awareness of the attending physician. Through this study, we demonstrated that a program of summoning the PHTR to "initiated monthly visits" at the PCC enables the PCP to be maximally aware of critical clinical information, in addition to limiting futile referrals of 91% of the visits to specialized centers, without adversely affecting the prognosis.

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Congenital disorders of glycosylation are a growing group of inborn errors of protein glycosylation. Cardiac involvement is frequently observed in the most common form, PMM2-CDG, especially hypertrophic cardiomyopathy. Dilated cardiomyopathy, however, has been only observed in a few CDG subtypes, usually with a lethal outcome. We report on cardiac pathology in nine patients from three unrelated Israeli families, diagnosed with dolichol kinase deficiency, due to novel, homozygous DK1 gene mutations. The cardiac symptoms varied from discrete, mild dilation to overt heart failure with death. Two children died unexpectedly with acute symptoms of heart failure before the diagnosis of DK1-CDG and heart transplantation could take place. Three other affected children with mild dilated cardiomyopathy at the time of the diagnosis deteriorated rapidly, two of them within days after an acute infection. They all went through successful heart transplantation; one died unexpectedly and 2 others are currently (after 1-5 years) clinically stable. The other 4 children diagnosed with mild dilated cardiomyopathy are doing well on supportive heart failure therapy. In most cases, the cardiac findings dominated the clinical picture, without central nervous system or multisystem involvement, which is unique in CDG syndrome. We suggest to test for DK1-CDG in patients with dilated cardiomyopathy. Patients with discrete cardiomyopathy may remain stable on supportive treatment while others deteriorate rapidly. Our paper is the first comprehensive study on the phenotype of DK1-CDG and the first successful organ transplantation in CDG syndrome.

Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.

Type 1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease, presents in childhood. Additional nonclassical landmarks of APS1 continue to develop as late as the fifth decade of life. Two thirds of patients develop the full triad before 25 years of age. Only 20% of patients develop the entire triad simultaneously. Addison's disease is rarely reported as the first manifestation. According to APS1 classifications, restricted criteria for a single cardinal component, although elements of suspicion are not sufficient to diagnose APS1. This case report is peculiar as hypoadrenalism was the first and only manifestation of APS1 for nearly 3 decades since its diagnosis. Theoretically, exceptions from the protocol of APS1 diagnostic criteria would be recognized as acceptable for diagnosis in the future, when similar case reports of only 1 component of APS1 appear.