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Formin homology 2 domain-containing 3 (FHOD3) gene has emerged as one of the main non-sarcomeric genes associated with hypertrophic cardiomyopathy (HCM), but no cases of biallelic variants associated with disease have been described to date. From 2014 until 2021, FHOD3 was evaluated in our center by next-generation sequencing in 22 806 consecutive unrelated probands. The p.Arg637Gln variant in FHOD3 was enriched in our HCM cohort (284 of 9668 probands; 2.94%) compared with internal controls (64 of 11 480; 0.59%) and gnomAD controls (373 of 64 409; 0.58%), with ORs of 5.40 (95% CI: 4.11 to 7.09) and 5.19 (95% CI: 4.44 to 6.07). The variant affects a highly conserved residue localised in a supercoiled alpha helix considered a clustering site for HCM variants, and in heterozygosis can act as a predisposing factor (intermediate-effect variant) for HCM, with an estimated penetrance of around 1%. Additionally, seven homozygous carriers of p.Arg637Gln in FHOD3 were identified. All but one (unaffected) showed an early presentation and a severe HCM phenotype. All this information suggest that p.Arg637Gln variant in FHOD3 is a low-penetrant variant, with an intermediate effect, that contributes to the development of HCM in simple heterozygosis, being associated with a more severe phenotype in homozygous carriers. [ABSTRACT FROM AUTHOR]

A 30-year-old woman in her second pregnancy, which was complicated by gestational diabetes mellitus. She had an uneventful spontaneous vaginal delivery at 38 weeks+3 days of gestation. Day 1 postpartum, she developed sudden chest pain radiating to her jaw and neck. Her observations were normal, and ECG showed lateral ST elevation in keeping with acute myocardial infarction. The troponin-T level was elevated at 21 ng/L at 0 hour, and >10 000 ng/L at 12 hours, respectively. Coronary angiography confirmed spontaneous dissection of the proximal left anterior descending (LAD) and proximal circumflex coronary arteries. She became unstable during percutaneous coronary intervention and consequently had a successful coronary artery bypass surgery with left saphenous vein grafts to the first obtuse marginal artery and LAD. Echocardiogram revealed moderate to severe impairment of the left ventricular function postoperatively. [ABSTRACT FROM AUTHOR]

The article presents case study of 31-year-old male with a history of Senning repair for transposition of the great arteries, coarctation repair and conduction system disease with right-sided single-chamber PPM implanted to sub-pulmonic left ventricle in 2009 presented with generator battery depletion. It mentions SVC was performed via the right femoral vein (RFV) using a coronary angioplasty wire.