Kartagener’s syndrome with congenital heart defect<i>—an old rare disease with a new rare face</i>

The rapid progression of PH in this patient, despite normal lung function and unremarkable CT scan findings, is atypical for PH associated with lung disease. Extensive investigation for alternative causes of PH, including genetic testing, yielded negative results. A more aggressive treatment strategy for PH is currently being pursued.

Authors

Isabel Sampaio Graça (ORCID: https://orcid.org/0000-0001-7534-9037)
Rui Plácido (ORCID: https://orcid.org/0000-0003-4164-5481)
Rui Anjos
Graça Nogueira
I Santos

Institutions

Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
Hospital de Santa Cruz (PT)
Associação Saúde da Família (BR)
Hospital de Santa Maria (PT)

Publication Details

Journal: Cardiology in the Young
Published: 2025-08-11
DOI: https://doi.org/10.1017/s1047951125101492
Primary Topic: Cystic Fibrosis Research Advances
Type: article
Field-Weighted Citation Impact: 0.00

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article

Kartagener’s syndrome with congenital heart defect—an old rare disease with a new rare face

Isabel Sampaio Graça, Rui Plácido, Rui Anjos, Graça Nogueira et al.

Aug 11, 2025

1 links

Cardiology in the Young

Cystic Fibrosis Research Advances

article

Kartagener’s syndrome with congenital heart defect—an old rare disease with a new rare face

Isabel Sampaio Graça, Rui Plácido, Rui Anjos, Graça Nogueira, I Santos

August 11, 2025article en

Abstract

The rapid progression of PH in this patient, despite normal lung function and unremarkable CT scan findings, is atypical for PH associated with lung disease. Extensive investigation for alternative causes of PH, including genetic testing, yielded negative results. A more aggressive treatment strategy for PH is currently being pursued.

Cardiology in the YoungVol. 35(8)

Administração Regional de Saúde de Lisboa e Vale do Tejo (PT), Hospital de Santa Cruz (PT), Associação Saúde da Família (BR), Hospital de Santa Maria (PT)

Good health and well-being

Openalex Percentile: Top 69%

Cystic Fibrosis Research Advances

DOI Source OpenAlex

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