Congenital Heart Disease — Research & Evidence

Q: Definition

Congenital heart defects are structural abnormalities . They are the most common malformations in newborns and the leading cause of morbidity and mortality due to congenital abnormalities .

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Topics/Congenital Heart Disease

Congenital Heart Disease

L1 subspecialty spine topic for Congenital Heart Disease (seeded from backend/data/cardiology_taxonomy.yaml).

Also called CHD, congenital heart defects

Sources: 12 new papers · 5 key papers · updated Oct 20, 2026

Overview New research Key papers Methods Related topics

Overview

Unverified · drafted by AI from the sources cited below

Definition

Congenital heart defects are structural abnormalities.1

They are the most common malformations in newborns and the leading cause of morbidity and mortality due to congenital abnormalities.

Diagnosis and risk stratification

Accurate segmentation of fetal heart in echocardiography images is essential for detecting the structural abnormalities such as congenital heart defects.1 Maternal obesity increases the risk of the offspring developing a congenital heart defect by 17 - 32%, with an estimate of 7% increased risk per 5 kg/m2 body mass index rise.2

Treatment

The first successful repair of a congenital heart defect was performed more than six decades ago.1

Open questions

The identity of the causative dosage-sensitive genes and hence mechanisms underlying this cardiac pathology remain unclear.1

New research on Congenital Heart Disease

Simultaneous Repair of Pectus Excavatum and Congenital Heart Defects

World Journal for Pediatric and Congenital Heart Surgery — Hataoka T — Nov 2026

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The Evolution of Anesthesia for Congenital Heart Disease

Pediatric Anesthesia — Odegard K — Oct 2026

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Scoliosis and congenital heart defects: a historical and analytical review of the literature

Russian Journal of Spine Surgery (Khirurgiya Pozvonochnika) — Михайловский М — Oct 2026

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Expanding the Phenotypic Spectrum of PRKD1 Gain-of-Function Syndrome: Congenital Heart Disease, Bilateral Carotid Dissections, and Ectodermal Dysplasia in an Adult Patient

Genes — Kharaziha P — Aug 2026

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The lived experiences of adults with congenital heart defects: a qualitative pilot study

British Journal of Cardiac Nursing — Foster H — Aug 2026

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Congenital heart defects – diagnosis and treatment

Scientific Reports — Kass R — Jul 2026

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Advances in Biomaterial-Based Cardiac Organoids Engineering for Modeling Development and Congenital Heart Defects

ACS Applied Bio Materials — Song Y — Jun 2026

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Maternal Obesity and Risk of Congenital Heart Defects

Current Cardiology Reviews — Meneses H — Apr 2026

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CLINICAL CHARACTERISTICS, MANAGEMENT STRATEGIES, AND CLINICAL OUTCOMES OF ADULTS WITH CONGENITAL HEART DISEASE AT A TERTIARY CARE HOSPITAL IN PAKISTAN

Pakistan Journal of Medical & Cardiological Review — Ali* D — Mar 2026

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Chronic Fatigue in Adolescents: The Role of Congenital Heart Disease vs. Psychosocial Factors

Structural and Congenital Heart Disease — Likhomanova E — Jan 2026

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Congenital absence of the right coronary artery in a patient with corrected congenital heart disease

BMJ Case Reports — Gutemberg P — Nov 2025

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Genome Sequencing Identifies a Heterozygous Deletion of <scp> <i>RBFOX2</i> </scp> in a Family With Congenital Heart Disease: A Case Report

American Journal of Medical Genetics Part A — Jean F — Oct 2025

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Key papers

Deep Learning-Based Computer-Aided Fetal Echocardiography: Application to Heart Standard View Segmentation for Congenital Heart Defects Detection

Sensors — Nurmaini S

101 citations · 2021 · among the most cited on Congenital Heart Disease

Artificial Intelligence in Congenital Heart Disease

JACC Advances — Jone P

74 citations · 2022 · among the most cited on Congenital Heart Disease

Prevalence of Feeding and Swallowing Disorders in Congenital Heart Disease: A Scoping Review

Frontiers in Pediatrics — Norman V

55 citations · 2022 · among the most cited on Congenital Heart Disease

Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome

Science Translational Medicine — Lana‐Elola E

50 citations · 2024 · among the most cited on Congenital Heart Disease

Cardiovascular Development and Congenital Heart Disease Modeling in the Pig

Journal of the American Heart Association — Gabriel G

39 citations · 2021 · among the most cited on Congenital Heart Disease

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How this page is built

A clinical question appears here only when its condition matches this topic, an outcome and a comparator were extracted from the studies, at least two studies and a patient count are on file, and the certainty is low or higher.

Supports benefit, no benefit shown, and mixed describe the direction of the measured effect. No benefit shown means the evidence does not support a benefit. It is not a finding of harm. Too little evidence means the question did not clear that bar.

Study count, RCT count, and patient count are separate. The patient total adds only studies that are linked into a study family and whose sample size is not flagged as implausible. A reversal is listed only when at least one randomized trial sits on each side of the change.

The overview is drafted from the guideline recommendations, trials, papers, and questions on this page, and every sentence has to cite one of them. It stays unverified until an NPI-verified clinician or a Synapse admin approves it. Approving records that person's name.

Leading authors

Richard J. Smith
University of Iowa
h-index 115 · 51k citations
The prevalence of protein misfolding as a mechanism for hereditary deafness
CP
Christine Petit
Centre National de la Recherche Scientifique
h-index 102 · 34k citations
Single-cell spatially resolved transcriptomic characterization of the developing mouse cochlea
BF
Bernd Fritzsch
University of Nebraska Medical Center
h-index 86 · 23k citations
Palaeospondylus may be a new lineage of jawed vertebrates.
TB
Thomas B. Friedman
National Institutes of Health
h-index 77 · 19k citations
A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness
KP
Karen P. Steel
King's College London
h-index 72 · 21k citations
Effects of Wbp2 gene activation and the modifier Cdh23ahl on progressive hearing loss in Wbp2 mouse mutants
CW
Cor W. R. J. Cremers
Radboud University Medical Center
h-index 70 · 20k citations

Most-cited researchers publishing on Congenital Heart Disease.

Leading authors

Richard J. Smith
University of Iowa
h-index 115 · 51k citations
The prevalence of protein misfolding as a mechanism for hereditary deafness
CP
Christine Petit
Centre National de la Recherche Scientifique
h-index 102 · 34k citations
Single-cell spatially resolved transcriptomic characterization of the developing mouse cochlea
BF
Bernd Fritzsch
University of Nebraska Medical Center
h-index 86 · 23k citations
Palaeospondylus may be a new lineage of jawed vertebrates.
TB
Thomas B. Friedman
National Institutes of Health
h-index 77 · 19k citations
A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness
KP
Karen P. Steel
King's College London
h-index 72 · 21k citations
Effects of Wbp2 gene activation and the modifier Cdh23ahl on progressive hearing loss in Wbp2 mouse mutants
CW
Cor W. R. J. Cremers
Radboud University Medical Center
h-index 70 · 20k citations

Most-cited researchers publishing on Congenital Heart Disease.