Key result
A novel heterozygous splicing mutation in the FLNA gene was identified in a patient with heritable pulmonary arterial hypertension and left main coronary artery compression.
Case Report (n=2)
This is the first report of heritable PAH likely due to an FLNA mutation presenting with LMCA compression between a dilated MPA and a left coronary sinus of Valsalva aneurysm.
LMCA compression by dilated MPA may cause OMI in PAH; leaves open familial genetic mechanisms.
Left main coronary artery (LMCA) disease due to external compression by a dilated main pulmonary artery (MPA) is an uncommon clinical entity. Here, we describe a 52-year-old woman with pulmonary arterial hypertension (PAH) and anteroseptal old myocardial infarction (OMI). The cause of the OMI was external compression of the LMCA by the dilated MPA and aneurysm of the left coronary sinus of Valsalva. The patient's sister (aged 56 years) had also been diagnosed with PAH and both women had a novel heterozygous splicing mutation, IVS2-2A > G (c.374-2A > G in NM_001456), in the filamin A ( FLNA) gene. To our knowledge, this is the first report of HPAH which is likely to be due to FLNA mutation and compression of the LMCA between a dilated MPA and aneurysm of the left coronary sinus of Valsalva.
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Hirashiki et al. (2017) conducted a case report in Heritable pulmonary arterial hypertension and left main coronary artery compression (n=2). FLNA mutation and left main coronary artery compression was evaluated. A novel heterozygous splicing mutation in the FLNA gene was identified in a patient with heritable pulmonary arterial hypertension and left main coronary artery compression.
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