Family screening in patients with isolated bicuspid aortic valve : Restriction to those with aortic dilatation is not justified.

AIM: To determine the prevalence of undiagnosed bicuspid aortic valve (BAV) and isolated aortic dilatation in first-degree relatives (FDRs) of patients with isolated BAV and to explore the recurrence risk of BAV in different subgroups of probands with BAV. Recent American College of Cardiology (ACC)/American Heart Association (AHA) Guidelines recommend family screening in patients with associated aortopathy only. METHODS: During follow-up visits, patients with isolated BAV received a printed invitation for their FDRs advising cardiac screening. RESULTS: From 2012-2019, 257 FDRs of 118 adult BAV patients were screened, among whom 63 (53%) index patients had undergone aortic valve surgery (AVS), including concomitant aortic replacement in 25 (21%). Of the non-operated index patients, 31 (26%) had aortic dilatation (> 40 mm). Mean age of the FDRs was 48 years (range 4-83) and 42% were male. The FDR group comprised 20 parents, 103 siblings and 134 offspring. Among these FDRs, 12 (4.7%) had a previously undiagnosed BAV and 23 (8.9%) had an isolated aortic dilatation. FDRs of the probands with previous AVS (n = 147) had a risk ratio for BAV of 2.25 (95% confidence interval (CI) 0.62-8.10). FDRs of the probands with BAV and repaired or unrepaired aortic dilatation (n = 127) had a risk ratio for BAV of 0.51 (95% CI 0.16-1.66). CONCLUSION: Screening FDRs of patients with isolated BAV resulted in a reasonable yield of 14% new cases of BAV or isolated aortic dilatation. A trend towards an increased risk of BAV in FDRs was observed in the probands with previous AVS, whereas this risk seemed to be diminished in the probands with associated aortic dilatation. This latter finding does not support the restrictive ACC/AHA recommendation.

Differences at surgery between patients with bicuspid and tricuspid aortic valves.

AIM: To determine differences in surgical procedures and clinical characteristics at the time of surgery between native bicuspid aortic valves (BAV) and tricuspid aortic valves (TAV) in patients being followed up after aortic valve surgery (AVS). METHODS: In this retrospective cohort study in a non-academic hospital, we identified patients who had a surgeon's report of the number of native valve cusps and were still being followed up. We selected patients with BAV and TAV, and used multivariable regression analyses to identify associations between BAV-TAV and pre-specified clinical characteristics. RESULTS: Of 439 patients, 140 had BAV (32%) and 299 TAV (68%). BAV patients were younger at the time of surgery (mean age 58.6 ± 13 years) than TAV patients (69.1 ± 12 years, p < 0.001) and were more often male (64% vs 53%; p = 0.029). Cardiovascular risk factors were less prevalent in BAV than in TAV patients at the time of surgery (hypertension (31% vs 55%), hypercholesterolaemia (29% vs 58%) and diabetes (7% vs 16%); all p < 0.005). Concomitant coronary artery bypass grafting (CABG) was performed less often in BAV than in TAV patients (14% vs 39%, p < 0.001), even when adjusted for confounders (adjusted odds ratio (adj.OR) 0.45; 95% CI: 0.25-0.83). In contrast, surgery of the proximal aorta was performed more often (31% vs 11%, respectively, p < 0.001; adj.OR 2.3; 95% CI: 1.3-4.0). CONCLUSIONS: Whereas mechanical stress is the supposed major driver of valvulopathy towards AVS in BAV, prevalent cardiovascular risk factors are a suspected driver towards the requirement for AVS and concomitant CABG in TAV, an observation based on surgical determination of the number of valve cusps.

A calcified sinutubular junction: the discovery of a supravalvular aortic stenosis in an elderly woman.

We report a case of a 64 year old woman with a calcified ring at the level of the sinotubular junction. Echocardiography and Computed Tomography showed a supravalvular aortic stenosis, without known associated lesions, except for the existence of an aberrant right subclavian artery. These combination of abnormalities makes it an unique case. Differential diagnosis of sinutubular calcification is added. From the literature a short review of supravalvular aortic stenosis is presented with indications for surgical intervention. Lifelong and regular follow up is necessary.

A ventricular septal defect with a giant appendiform aneurysm of the membranous septum.

We report a case of a 39-year-old female with a ventricular septal defect (VSD) and a giant appendiform aneurysm of the membranous septum, illustrated by echocardiography and magnetic resonance imaging. From the literature a short review of the prevalence of spontaneous closure of VSDs together with the possible complications of persisting VSDs is presented. Since patients stay at risk in later years, follow-up at regular intervals is advised.

Right ventricular ejection fraction measured by multigated planar equilibrium radionuclide ventriculography is an independent prognostic factor in patients with ischemic heart disease.

BACKGROUND: The number of studies on the prognostic value of the right ventricular ejection fraction (RVEF) in patients with ischemic heart disease (IHD) is limited, whereas it is widely accepted that the left ventricular ejection fraction (LVEF) is a strong prognostic factor. We assessed whether RVEF measured by multigated planar equilibrium radionuclide ventriculography (RNV) is an independent prognostic factor in patients with IHD. METHODS AND RESULTS: We retrospectively identified 347 consecutive patients with IHD (mean age 71 ± 11 years; 18% women) who underwent multigated planar equilibrium RNV between 2004 and 2008 to determine the LVEF, which also provided the RVEF (mean 44.7% ± 11.0%). We categorized patients according to RVEF in ≥40% (n = 240) and <40% (n = 107). Patients were followed for a median of 826 days (range 3-2,400) for the occurrence of events [all-cause mortality (n = 60), cardiac mortality (n = 33), and cardiac hospitalization (n = 78)]. Cox regression analysis with significant univariate predictors [coronary artery revascularization (P = .003), diuretics (P = .03), and statins (P < .001)] showed that an RVEF <40% was associated with a 2.90 (1.68-5.00)-fold higher risk of all-cause death. Accordingly, a decreased RVEF was associated with a 2.15 (1.34-3.43)-fold increase in the risk of cardiac hospitalization and a 5.11(2.32-11.23)-fold risk of cardiac death. CONCLUSION: RVEF measured by multigated planar equilibrium RNV is an independent prognostic factor in patients with chronic IHD.