Prenatal Diagnosis of Isolated Right Ventricular Non-Compaction Cardiomyopathy with an MYH7 Likely Pathogenic Variant.

Background: Noncompaction of ventricular myocardium is a cardiomyopathy that typically involves the left ventricle or both ventricles; it has often been associated with mutations in genes encoding sarcomere proteins. Little is known about isolated right ventricular noncompaction, as only a few cases have been reported. Case Report: A 30 year old G2P1 woman experienced a spontaneous fetal loss at 19 weeks and 4 days. An ultrasound examination at 19 weeks showed right ventricular and tricuspid valve abnormalities, ascites, and early hydrops. At autopsy, the right ventricular chamber was dilated with numerous prominent trabeculations and deep intrabecular recesses as well as a dysplastic tricuspid valve. Histologic examination confirmed isolated right ventricular noncompaction. Whole exome sequencing showed a likely pathogenic variant in the MYH7 gene. Conclusions: This appears to be the first report of isolated right ventricular noncompaction associated with a gene mutation as well as the first diagnosis in a fetus.

Prenatal Detection, Comorbidities, and Management of Vascular Rings.

The 3-vessel and trachea view is now integrated into obstetrical screening and facilitates prenatal detection of vascular rings. We examined trends in prenatal detection, associated cardiac and extracardiac anomalies, and surgical management in this population. We reviewed a population-based cohort of pediatric vascular ring patients diagnosed prenatally and postnatally between 2002 and 2017 in Alberta, Canada. Of 106 cases, 28 (26%) had a prenatal diagnosis. Prenatal detection increased over time: 0/29 from 2002 to 2009, 4/28 (14%) from 2009 to 2011, 7/23 (30%) from 2012 to 2014, and 17/26 (65%) from 2015 to 2017 (p <0.01). The prenatal group more commonly had right aortic arch/left ductus/aberrant left subclavian artery (24/28vs 53/78, p = 0.04) and associated cardiac pathology (18/28vs 33/78, p = 0.05). The rate of genetic anomalies was overall higher than previously reported (34%) and did not differ between groups (11/28vs 25/78, p = 0.48). Those with a prenatal diagnosis were less likely to require cross-sectional imaging (9/28vs 48/78, p <0.01), modifying the vascular ring subtype diagnosis in 2 patients. Surgical intervention was common and did not differ between groups (24/28vs 66/78, p = 0.89). In conclusion, prenatal detection of vascular rings has increased. Despite differences in vascular ring subtype and associated cardiac pathology, the incidence of genetic anomalies and need for surgical intervention is not associated with timing of diagnosis. Genetic counseling should be universally offered. The diagnostic accuracy of echocardiography suggests additional imaging may not be routinely required.

Lone atrial fibrillation in the pediatric population.

BACKGROUND: There are few reports of pediatric studies of atrial fibrillation (AF). We sought to describe the clinical characteristics, management strategies, and recurrence rates and to identify predictors of AF recurrence in a contemporary pediatric population. METHODS: A retrospective review was performed of patients ≤ 18 years with lone AF who were seen at 4 pediatric institutions from 1996-2011. Patients with AF in the setting of thyroid disease, ventricular pre-excitation, coexisting congenital heart disease, or a history of cardiac surgery were excluded. Demographics, clinical presentation, investigations, treatment, and follow-up were analyzed. RESULTS: Forty-two patients were diagnosed with a first episode of lone AF, and 4 of these cases were later classified as persistent AF. Thirty-one (74%) were male patients, median age was 15.3 years, and median (interquartile range [IQR]) duration of AF episode was 12 (IQR, 7-24) hours. AF recurred in 39% (15 of 38) of patients. The Kaplan-Meier median time to estimated recurrence was 19 months. By univariate analysis, initial AF episode duration was associated with a higher risk of recurrence (hazard ratio [HR], 1.01; 95% confidence interval [CI], 1-1.02; P = 0.034). Sex, age, family history, size of the left atrium, and history of cardioversion were not associated with recurrence. Recurrence with another supraventricular tachyarrhythmia (SVT) was observed in 6 of 38 (16%) patients, and 12 patients underwent electrophysiology (EP) study, with 6 patients receiving ablation. CONCLUSIONS: Our reported rate of recurrence of 39% is important when counseling pediatric patients and their parents on the expected course and treatment goals.