This work demonstrates how recognition of body region dysmorphology patterns improves prediction of genetic disorders causing congenital heart disease (CHD). Findings highlight possible abnormal deve...

Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) from birth and increased risk of premature atherosclerotic cardiovascular...

Elevated lipoprotein(a) [Lp(a)] and familial hypercholesterolemia (FH) are common, underdiagnosed monogenic dyslipidemias that significantly increase …

Elevated lipoprotein(a) [Lp(a)] and familial hypercholesterolemia (FH) are common, underdiagnosed monogenic dyslipidemias that significantly increase cardiovascular risk. We investigated whether stand...

Risk prediction has been used in the primary prevention of cardiovascular disease for >3 decades. Contemporary cardiovascular risk assessment relies on multivariable models, which integrate establi...

Journal of Perinatology - Predicting the future for neonates with symptomatic congenital heart disease

Nonischemic dilated cardiomyopathy (DCM) can result from pathogenic variants in genes affecting myocardial structure and function. FKTN and LMNA mutat…

Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were ...

A straightforward and unified approach is presented for the calculation of the population attributable risk per cent (etiologic fraction) in the general multivariate setting, with emphasis on using data from case-control studies. The summary attributable risk for multiple factors can be estimated, w …

This cross-sectional study investigates if familial hypercholesterolemia can be identified through newborn screening.

BACKGROUND: Lipoprotein(a) [Lp(a)] is a predictor of atherosclerotic cardiovascular disease (ASCVD); however, there are few algorithms incorporating Lp(a), especially from real-world settings. We deve...

Lipoprotein(a) [Lp(a)] is a low-density lipoprotein (LDL) particle additionally bound to apolipoprotein(a) [apo(a)], and it is an independent causal risk factor for cardiovascular disease.1,2 Lp(a) co...

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The NHS 10 year plan puts a lot of stock in genomics for preventing people getting sick. For example, it envisages a“new genomics…

This is a revised and updated version of a Cochrane review from 2010, adding 11 studies to the seven previously identified.

BACKGROUND. Genetic disorders are pervasive in neonatal intensive care unit (NICU) populations, and the superiority of genomic testing to rapidly identify genetic diagnoses is established, yet patient...

Genetic testing strategies used to determine the etiology of congenital heart disease/defects (CHD/CHDs) vary between and within institutions, leading to potentially missed diagnostic opportunities. ....

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The continuing evolution of the genetic counseling profession necessitates an ongoing reflection on the perceived validity and role of our research in the larger systems we operate in. Despite our ne...

Lipoprotein(a) Cardiovascular Risk Explained by LDL Cholesterol, Non-HDL Cholesterol, ApoB, or hsCRP Is Minimal

BACKGROUND: Genetic disorders are prevalent in patients with congenital heart disease (CHD), but genetic evaluations are underutilized and nonstandardized. We sought to quantify a dysmorphology score ...

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This review aims to summarize this literature and provide insight into variant interpretation, practical steps clinicians can take to further assess a VUS, and considerations when counseling patients ...

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Overview of study design and results—Dysmorphic patients had a two-fold increased risk of having genetic disorders identified, consistent across extra cardiac anomalies (ECA) status. However, dysmorp...