EP025: Novel phenotype of aortic root dilatation and late onset of metabolic decompensation in patient with TMEM70 deficiency

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TMEM70 deficiency causing mitochondrial complex V deficiency, nuclear type 2 [MIM: 614052] is the most common nuclear encoded defect affecting ATP synthase and has been well described in the literature as being characterized by neonatal/ infantile onset of poor feeding, hypotonia, lethargy, respiratory compromise, heart failure, lactic acidosis, hyperammonemia, and 3-methylglutaconic aciduria progressing to a phenotype of developmental delay, failure to thrive, short stature, non-progressive cardiomyopathy, microcephaly, facial dysmorphisms, hypospadias, persistent pulmonary hypertension of the newborn, and Wolff Parkinson White syndrome as well as metabolic crises followed by developmental regression.