Kartagener's syndrome with congenital heart defect-an old rare disease with a new rare face.

Abstract

Introduction: Kartagener's syndrome is a rare subset of primary ciliary dyskinesia, a genetically heterogeneous disorder characterised by chronic sinusitis, bronchiectasis, and situs inversus. To our knowledge, the association of this syndrome with coarctation of the aorta (CoAo) and pulmonary hypertension (PH) has not been previously reported.

Case description: We report the case of a 17-year-old female patient with situs inversus and CoAo surgically corrected at two months of age. At 12 years old, she developed a chronic cough, nasal congestion, and an estimated pulmonary artery systolic pressure (PASP) of 70 mmHg on echocardiography. Cardiac catheterisation revealed a pulmonary artery pressure of 58/10/24 mmHg with no gradient at the aortic isthmus. Thoracic CT scan demonstrated multiple bronchiectasis in the upper lobes bilaterally, despite normal pulmonary spirometry, plethysmography, and 24-hour oximetry. Genetic testing identified a pathogenic variant and a variant of uncertain significance of the DNAH5 gene, associated with primary ciliary dyskinesia. The patient was diagnosed with Kartagener's syndrome with PH and was started on inhaled glucocorticoids and chest physiotherapy. No episodes of pneumonia or acute bronchiectasis exacerbations were recorded. Annual lung function tests remained normal, and semiannual echocardiograms showed stable findings. A follow-up thoracic CT scan at 16 years of age revealed no progression of lung disease. At 16 years old, the patient developed significant physical activity limitation. Echocardiographic evaluation demonstrated right ventricular dilatation with reduced longitudinal function (TAPSE 15 mm, Z-score 4.4), suprasystemic PASP (120 mmHg), an eccentricity index of 2.3, normal left ventricular function, moderate pericardial effusion, and an NT-ProBNP level of 2292 pg/mL. Combined therapy targeting PH was initiated, including an endothelin receptor antagonist, a phosphodiesterase type 5 inhibitor, diuretics, and supplemental oxygen therapy. Significant clinical improvement was observed (WHO functional class IIIa to I), along with echocardiographic improvement (PASP reduced to 80 mmHg, TAPSE increased to 16 mm, resolution of pericardial effusion), and a marked decrease in NT-proBNP (171 pg/mL).

Conclusions: 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.