Cardiac Complications in Patients with Propionic Acidemia

Abstract

Propionic acidemia, is an autosomal recessive disorder due to the deficiency of the enzyme propionyl-coenzyme A carboxylase, which is a critical component for the metabolism of certain amino acids and lipids. The clinical complications are varied and may present at any time in the patient's life, mainly the neurological symptoms. Outside the central nerve system, haematological abnormalities including anaemia, neutropenia, thrombocytopenia or pancytopenia, immune defects, osteoporosis and pancreatitis are other rare complications reported. Of note, cardiac diseases have been recognized as increasing and life-threatening manifestations, including cardiomyopathy and electrophysiological changes such as prolongation of the QT interval.The possible mechanisms of propionic acidemia-associated cardiac disorder, and the importance of appropriate management and early recognition, are discussed.

A Case Report of Cardiac Transplantation for Isolated Cardiomyopathy Associated With Propionic Acidemia

“…Individuals afflicted may develop cardiomyopathy and long QTc. 5 Extracardiac manifestations include pancreatitis, seizures, and other central nervous system defects. 2 Cardiomyopathy as the lone clinical manifestation of propionic acidemia is rare but not undescribed.…”

“…Propionic acidemia–associated cardiomyopathy has high mortality, and liver transplantation, while occasionally successful, has a high failure rate. 5 Cardiac transplantation, with careful patient selection and management in coordination with physicians with expertise in metabolic disorders, may lead to positive outcomes in this complex patient population.…”

Prevalence of propionic acidemia in China

“…In severe cases, PA can result in death [ 1 ]. Patients with PA typically experience recurrent episodes of hyperammonemia, ketoacidosis, metabolic acidosis, neutropenia, and thrombocytopenia [ 2 ]. The clinical presentation is diverse and lacks specificity, with a rapid clinical progression and poor prognosis.…”

Ventricular Arrhythmias in a Patient With Propionic Acidemia

“…Patients with late-onset PA may be asymptomatic until they are under catabolic stress (usually involving fasting, illness, or surgery) and may present with vomiting, hypotonia, developmental delays, or cardiomyopathy. Some of the more common developments of cardiomyopathy involve QT-prolongation, hypertrophy, and dilated cardiomyopathy which predisposes patients to fatal cardiac arrhythmias [ 3 ]. It has been proposed that the cause is due to intracellular calcium mishandling leading to cardiac dysfunction and ventricular arrhythmias which were recently demonstrated in mouse models by Tamayo et al [ 4 ].…”