Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families.

Biallelic variants in PPA2 gene cause a rare but lethal mitochondrial disorder. We describe the first four cases reported in Spain of PPA2 disease in two unrelated families. We have conducted a revision of the clinical history, necropsies, and postmortem genetic testing from probands, and clinical evaluation, genetic testing and blood transcript analysis in family members.

[Aortopulmonary window].

The aortopulmonary window is a rare cause of heart failure in the neonate. It must be ruled out if there are signs of pulmonary edema without the most frequent left-right shunts. We report the echocardiographic images of a newborn who was admitted with symptoms of heart failure at our institution.

[An infrequent presentation of SAPHO syndrome].

We describe a case of SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) with an unusual presentation in a 14 year-old girl with low grade fever which lasts 8 months, left low back pain and elevated erythrocyte sedimentation rates and protein C-reactive with chronic anaemia. A radiograhy of the lower limbs showed a lytic image with osteitis and hyperostose in the right fibula, as a casual finding. This information, in addition to the acne, pustulosis, sternoclavicular arthritis and the studies got from the magnetic resonance image (MR) of spine, pointed out the diagnosis of SAPHO.