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Disease

Heart Defects, Congenital

Late-stage therapeutic developmentEmerging researchRising momentum
14
Publications
12
Clinical trials
12
Related conditions
2024
Latest publication

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Clinical trials

11 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
12
All trials
1
Active
5
Late-stage
5
Completed
Late-stage studies
Recently completed

Research activity

14 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20082024
Most influential
Recent publications
Major themes8
  • Heart Defects, Congenital5
  • Cardiology2
  • Aorta, Abdominal1
  • Aorta, Thoracic1
  • Atherosclerosis1
  • Cardiac Rehabilitation1
  • Cardiologists1
  • Cardiovascular Diseases1
Leading journals5
  • European heart journal8
  • Circulation3
  • Journal of cardiovascular medicine (Hagerstown, Md.)1
  • Signal transduction and targeted therapy1
  • The Lancet. Child & adolescent health1
Leading researchers8
  • Baumgartner H3
  • Meijboom F3
  • Bonhoeffer P2
  • Elliott PM2
  • Gatzoulis MA2
  • Iung B2
  • Kirchhof P2
  • Lancellotti P2
Affiliations (unnormalised)6
  • 'Magna Graecia' University1
  • Adult Congenital and Valvular Heart Disease Center (EMAH-Zentrum) Muenster1
  • Adult Congenital Heart Centre and National Centre for Pulmonary Hypertension1
  • AORN dei Colli-Monaldi Hospital1
  • Azienda Ospedaliero Universitaria Policlinico San Marco. Catania.1
  • Azienda Ospedaliero-Universitaria Ospedali Riuniti Ancona 'Umberto I1

Related conditions

12 matches

Diseases frequently studied alongside this one. Number shows shared papers.

Disease profile

A grounded synthesis of the condition — overview, causes, mechanism, risk factors and current standard of care.

Overview

Congenital heart defects are developmental abnormalities of the heart’s structures that are present at birth, although they may not be recognized until later in life. The grounding describes them as a broad category of congenital heart disease rather than a single lesion.

Causes

They arise from abnormal cardiac development. The supplied material links this to disrupted molecular signals and pathways involved in heart formation, including growth and transcription factors, WNT signaling, retinoic acid signaling, and Notch signaling, as well as cilia-related and extracellular matrix-related processes.

Pathophysiology

The disease reflects altered embryologic cardiac development, leading to structural abnormalities of the heart. The grounding indicates that multiple molecular pathways regulate normal cardiac development and that disruption of these pathways contributes to congenital defects. The literature also frames exercise and stroke volume as co-studied mechanisms, but does not provide a specific mechanistic explanation for them in this grounding.

Risk factors

The supplied grounding does not identify specific epidemiologic risk factors for congenital heart defects. It only indicates that the literature covers epidemiology, without listing particular factors.

Current standard of care

Management is described at the level of diagnostic imaging and therapy rather than specific interventions. Advanced cardiovascular imaging such as cardiac magnetic resonance and computed tomography is used to support echocardiography and, in some settings, replace cardiac catheterization for diagnosis and assessment. The grounding also notes therapy and complications as literature themes, but does not specify treatment modalities beyond imaging-based evaluation and general cardiovascular palliative care as a broader concept in cardiovascular disease.

AI-generated summary grounded in MeSH and 3 peer-reviewed sources. Informational only — not medical advice. Generated 2026-07-07.

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.