先天性三尖弁狭窄症

Coronary artery fistula (CAF) is a rare congenital coronary malformation. Sakakibara type B lesions, in which multiple coronary arteries drain concurrently into the coronary sinus (CS), are extremely uncommon, and cases initially presenting with high-burden premature ventricular complexes (PVCs) as the initial manifestation have rarely been reported. This paper reports a 63-year-old female patient presenting with intermittent palpitations for 1 year. A 24-hour ambulatory electrocardiogram (Holter) revealed a PVC burden of up to 40,804 complexes, with a total of 101,582 heartbeats recorded. Transthoracic echocardiography (TTE) demonstrated dilation of the left atrium, left ventricle and right atrium, moderate mitral and tricuspid regurgitation, dilated right coronary artery (RCA) with a right coronary artery-coronary sinus fistula, while lesions of the left circumflex artery (LCX) and second obtuse marginal branch (OM2) were missed. Three-dimensional coronary computed tomography angiography (CCTA) reconstruction showed tortuous and diffusely dilated LCX, OM2 and RCA, with aneurysms at the distal segments of all three vessels. The distal segments of the three vessels anastomosed with each other and drained into the CS. The dilated coronary arteries compressed the great cardiac vein, resulting in focal luminal stenosis. The patient's PVCs originated from the left coronary cusp. Radiofrequency catheter ablation completely relieved palpitations, and follow-up Holter at 3 months recorded only 1 PVC with a different origin from preoperative ectopy. Cardiac surgeons recommended surgical ligation of the fistula, but the patient opted for regular imaging follow-up and long-term clopidogrel antiplatelet therapy due to absence of myocardial ischemia, heart failure and other symptoms. This case indicates that three-dimensional CCTA reconstruction serves as the primary non-invasive modality for definitive diagnosis and therapeutic evaluation of complex CAF. Idiopathic PVCs originating from the aortic sinuses of Valsalva can coexist independently with CAF. Type B CAF with multiple feeding vessels draining into the CS represents a high-risk anatomical subtype, requiring long-term, individualized multidisciplinary management.

BACKGROUND AND AIMS: Phloroglucinol is a spasmolytic drug widely prescribed in France for gastrointestinal or pelvic pain, and frequently used during pregnancy despite limited evidence regarding its safety. We aimed to evaluate the association between first-trimester phloroglucinol exposure and the risk of major congenital malformations (MCMs) in a nationwide cohort. METHODS: Using data from the French EPI-MERES cohort based on the national health data system (SNDS), we identified all pregnancies ending after 22 weeks between 2010 and 2022, excluding women with phloroglucinol use in the year before pregnancy. We compared the risks of 68 MCM subtypes according to exposure during gestational weeks 3-12. Adjusted odds ratios (aORs) were estimated using logistic regression controlling for maternal sociodemographic, medical and pregnancy characteristics. Interpretation relied on effect size (aOR > 1.30) and consistency across sensitivity analyses. RESULTS: Among 6,233,539 pregnancies, 1,024,369 (16.4%) were exposed to phloroglucinol. There were 19,635 MCM cases among children exposed to phloroglucinol and 91,693 among those unexposed (overall aOR 1.05, 95% CI 1.04-1.07). Six rare malformations showed isolated elevated risk estimates: tricuspid stenosis (aOR 1.37, 95% CI 0.96-1.94), Ebstein anomaly (aOR 1.43, 95% CI 0.99-2.06), double outlet left ventricle (aOR 1.60, 95% CI 0.83-3.09), indeterminate sex and pseudohermaphroditism (aOR 1.32, 95% CI 1.05-1.66), anencephaly and similar malformations (aOR 1.55, 95% CI 0.95-2.52), and arhinencephaly/holoprosencephaly (aOR 1.90, 95% CI: 0.97-3.72). However, these findings were not consistent across sensitivity analyses. CONCLUSIONS: In this large nationwide cohort, first-trimester exposure to phloroglucinol was not associated with a clinically meaningful increase in the risk of major congenital malformations.

OBJECTIVE: Congenital heart disease (CHD), the most common congenital defect, accounts for one-third of all congenital anomalies. Genetic causes are identified in 20%-30% of CHD cases, mostly involving abnormal valve formation. PLD1 gene variants are postnatally associated with pulmonary stenosis, valvular regurgitation, left ventricular dilation and right ventricular hypoplasia. METHODS: Clinical data of the proband were collected, and targeted capture high-throughput sequencing was performed on the proband and his family members. The detected gene variants were interpreted according to the ACMG guidelines, and the correlation between variants and diseases was analyzed by combining clinical phenotypes and genetic characteristics. RESULTS: The proband presented with recurrent fatigue, palpitations, and aggravated symptoms for 2 days, with a history of cardiac valve disease for more than 17 years and three open-heart surgeries. Echocardiography showed left ventricular enlargement, decreased ventricular wall motion amplitude, and mild tricuspid regurgitation. Genetic testing identified two novel compound heterozygous variants in the PLD1 gene: NM_002662.5: c.434 + 1G > T (a splice site variant, inherited from the father, classified as pathogenic) and NM_002662.5:c.2681A > G (a missense variant, NP_ 002653.1: p.Tyr894Cys, inherited from the mother, classified as a variant of uncertain significance). CONCLUSION: These two novel compound heterozygous variants in PLD1 may be the pathogenic genetic cause of cardiac valve dysplasia 1 (CVDD1) complicated with dilated cardiomyopathy (DCM) in this patient, which expands the variant spectrum of PLD1 and provides valuable evidence for genetic diagnosis and genetic counseling of CVDD1 and related cardiomyopathies.

Right ventricular loading in pediatric congenital heart disease may alter interventricular septal geometry through ventricular interdependence, whereas standard cardiac magnetic resonance imaging (MRI) parameters reflect global ventricular remodeling. This study evaluated the MRI-derived systolic septal-to-free wall curvature ratio across congenital heart disease subgroups with differing loading conditions and examined its relationships with volumetric, functional, and hemodynamic parameters. In this retrospective study, 149 participants examined between 2020 and 2025 were classified as controls (n = 21), repaired tetralogy of Fallot without residual right ventricular outflow tract stenosis (n = 55), repaired tetralogy of Fallot with residual stenosis (n = 52), and left-to-right shunt-associated pulmonary hypertension (n = 21). The end-systolic curvature ratio was calculated from mid-ventricular short-axis cine MRI using MATLAB-based contour analysis. Correlations with MRI-derived and hemodynamic parameters, and diagnostic performance were assessed. The ratio differed among groups (P = 0.0003) and was lowest in the shunt-associated pulmonary hypertension group, followed by tetralogy of Fallot with residual stenosis. In tetralogy of Fallot with residual stenosis, lower ratios were associated with higher peak right ventricular outflow tract gradients (r = - 0.559, P < 0.0001) and higher tricuspid regurgitation-derived right ventricular systolic pressure (r = - 0.447, P = 0.004). In tetralogy of Fallot without residual stenosis, lower ratios were associated with higher right ventricular end-systolic volume index and lower right ventricular ejection fraction. Receiver operating characteristic analysis showed acceptable discrimination, with AUC values of 0.760-0.790 between controls and patient groups and 0.720-0.780 among patient subgroups. The ratio may provide a quantitative noninvasive marker of right ventricular loading and systolic septal deformation, complementing volumetric assessment in pressure-related and mixed loading conditions.