Rigaud et al [2013] estimated an incidence of 1.5 cases per million births (95% CI: 0.2-2.3) based on data from France between 1995 and 2008; they noted, however, that some patients may have been undiagnosed either due to a mild clinical course or sudden [ncbi.nlm.nih.gov]

[…] to thrive as infants, poor muscle tone, difficulty with fine finger movements and walking, lack of stamina and frequent serious bacterial infections. [nicklauschildrens.org]

Signs and symptoms of Barth syndrome include: skeletal muscle abnormalities delayed gross motor skill development weak muscle tone frequent infections failure to thrive in infants and other abnormalities in growth exercise intolerance or lack of stamina [childrenshospital.org]

Such abnormal weight-for-height ratios in Barth syndrome are rarely caused by nutritional failure-to-thrive, but are a "normal" characteristic of Barth syndrome. [web.archive.org]

These symptoms can include: Heart conditions such as arrhythmias, heart failure, and cardiomyopathy Failure to thrive Delays in meeting developmental milestones Delays in the acquisition of gross motor skills Exercise intolerance Muscle weakness Easily [verywellhealth.com]

[…] to thrive, episodic diarrhea, characteristic facies, and an X-linked family history (Ichida et al., 2001; Steward et al., 2010). [frontiersin.org]

Cardiologically, he had never experienced syncope and presented with occasional episodes of chest pain and palpitations. [revespcardiol.org]

palpitations, syncope), abnormal screening tests, or a family history of sudden death. [ncbi.nlm.nih.gov]

Cardiologically, he had never experienced syncope and presented with occasional episodes of chest pain and palpitations. [revespcardiol.org]

• The clinical manifestations range from prenatal death and stillbirth with hydrops to adult cardiomyopathy and mild proximal muscle weakness with moderate disease impact and neutropenia. • Neutropenia, which is most commonly intermittent and highly [medlink.com]

Common signs and symptoms include; distinctive facial features with a round face and full cheeks, large ears, deep-set eyes, big chin, heart muscle weakness which presents as heart failure and/or arrhythmias including sudden death, growth delay and failure [nicklauschildrens.org]

They have a round face with prominent chin and full cheeks. The ears are large, and they have deep set eyes. The facial features become less noticeable with age. [rarediseases.org]

Younger males with Barth syndrome have a characteristic facial gestalt that is most evident during infancy, characterized by a tall and broad forehead, round face, full cheeks, prominent pointed chin, large ears, and deep-set eyes. [ncbi.nlm.nih.gov]

Younger males with Barth syndrome have a characteristic facial gestalt that is most evident during infancy, characterized by a tall and broad forehead, round face, full cheeks, prominent pointed chin, large ears, and deep-set eyes. [ncbi.nlm.nih.gov]

A recent electrocardiogram (ECG) was essentially unremarkable ( Figure 1 ), showing in sinus rhythm a slightly short PR interval (0.12 ms), and mildly high voltage QRS, in particular deep S waves in V1-V2 with ST elevation with an early repolarization [revespcardiol.org]

A recent electrocardiogram (ECG) was essentially unremarkable ( Figure 1 ), showing in sinus rhythm a slightly short PR interval (0.12 ms), and mildly high voltage QRS, in particular deep S waves in V1-V2 with ST elevation with an early repolarization [revespcardiol.org]