Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

• Published in: ESC Heart Failure Vol. 12; no. 4; pp. 3195 - 3199
• Main Authors: Goetz, Violette, Lefort, Bruno, Barth, Magalie, Gueguen, Naïg, Bris, Céline, Blanchard, Emmanuelle, Benz‐de Bretagne, Isabelle, Blasco, Hélène, Tardieu, Marine, Labarthe, François
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.08.2025; John Wiley and Sons Inc; Wiley
• Subjects: Acidosis; Age; Biopsy; Biosynthesis; Cardiac function; Cardiomyopathy; Case reports; Clinical Correspondences; Enzymes; Heart failure; Kinases; Liver; Metabolic therapy; Metabolism; Patients; PPCS deficiency; Vitamin B5 (pantothenate); Metabolic therapy; Vitamin B5 (pantothenate); PPCS deficiency
• ISSN: 2055-5822; 2055-5822
• DOI: 10.1002/ehf2.15283

Despite intensive pharmacological cardiac support [epinephrine, norepinephrine, angiotensin-converting enzyme (ACE) inhibitor, beta-blocker, diuretics, milrinone and repeated infusions of the calcium sensitizer levosimendan], cardiac situation remains precarious (Figure 2) and the patient experienced 2 months later a second cardiac arrest successfully resuscitated. Plasma levels of creatine kinase (median value 908 U/L, range 250–114 830, N < 310) and of ammonia (median value 85 μmol/L, range 26–129, N < 40) remained fluctuating. Because of recurrent vomiting, a gastroparesis was confirmed by gastric scintigraphy and jejunal tube feeding was required. [...]exome sequencing led to the identification of a new homozygous mutation in the PPCS gene (c.727G > C, p. Ala243Pro) categorized as highly deleterious by prediction tools. Currently, six patients from three unrelated families have been reported with PPCS deficiency, all of them with a predominantly cardiac presentation including dilated cardiomyopathy and various degrees of heart failure.3,5 Two of these patients had a severe neonatal presentation, very similar of our patient. Besides dilated cardiomyopathy, both experienced acute life-threatening events with heart failure, recurrent episodes of increased plasma levels of creatine kinase, hyponatremia and hypokalaemia, and finally died at 3 and 4 months of age.