Vol 79, No 12 (2021)
Clinical vignette
Published online: 2021-09-27

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  • „ Clinical vignette

Holt-Oram syndrome, bicuspid aortic valve, and patent ductus arteriosus

Paweł Tyczyński1, Ilona Michałowska2, Barbara Miłosz-Wieczorek2, Piotr Hoffman3, Adam Witkowski1

1Department of Interventional Cardiology and Angiology, National Institute of Cardiology, Warszawa, Poland

2Department of Radiology, National Institute of Cardiology, Warszawa, Poland

3Department of Congenital Heart Disease, National Institute of Cardiology, Warszawa, Poland

Correspondence to:

Paweł Tyczyński, MD, PhD,

Department of Interventional Cardiology and Angiology,

Institute of Cardiology,

Alpejska 42, 04–628 Warszawa,

phone: +48 22 343 42 72,

e-mail: medykpol@wp.pl

Copyright by the Author(s), 2021

Kardiol Pol. 2021; 79 (12): 1395–1396; DOI: 10.33963/KP.a2021.0118

Received: July 15, 2021

Revision accepted: September 27, 2021

Published online: September 27, 2021

Holt-Oram syndrome (HOS) is an autosomal dominant disorder (mutation in TBX5 gene) with the European prevalence of 0.7 per 100 000 births [1]. It is characterized by congenital heart defects (CHD) and upper limb abnormalities. Heart defects most commonly include septal defects, followed by aortic coarctation (CoA), mitral valve defects, patent ductus arteriosus (PDA), and conduction disturbances [2]. Defects of the upper limb include thumb anomalies (absent or hypoplastic, triphalangeal, or syndactyly), agenesis/hypoplasia of radius, ulna, or humerus [1]. Moreover, hypoplasia of clavicles and thorax anomalies may also be present [3]. Next, the bicuspid aortic valve (BAV) is the most common CHD (prevalence 0.5%–2% and the entity is associated with valve stenosis or regurgitation, as well as dilatation, aneurysm, and dissection of the ascending aorta (AA). The coexistence of HOS and BAV was most probably described only once. The reported patient presented with multiple cardiac defects (atrial septal defect, BAV, and non-compaction of the left ventricle) [4]. Moreover, only single descriptions (7 reports) of coexistence HOS and PDA have been reported so far (2 and others). We report a HOS patient in whom BAV was diagnosed along with PDA.

Three HOS patients were identified among 103 330 patients (prevalence 0.003%) hospitalized at our institution from January 2008 to November 2020. One of them presented with BAV. A twenty-eight-year-old male HOS patient after surgical treatment of the aortic coarctation (CoA) and PDA ligation at the age of 7 was admitted for the assessment of the AA. Both transthoracic echocardiography and computed tomography angiography done in 2012 showed the dilated AA up to 51 mm and BAV with a fusion of the right and left coronary cusps (Figure 1). The patient was offered a redo corrective surgery. However, he preferred a conservative approach and remained under control elsewhere. Repeated transthoracic echocardiography after 9 years (July 2021) showed the AA dilated up to 52 mm. Again, he preferred further observation.

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Figure 1. A. and B. Bicuspid aortic valve with commissure fusion between coronary cusps. Corresponding images from echocardiography and computed tomography, respectively. C. Computed tomography angiography. The white arrow indicates a dilated segment of the ascending aorta

Both CoA and PDA were present in our patient in his childhood. These 2 heart anomalies are characteristic of HOS. Aortic aneurysm, however, is much more characteristic for BAV, and no association of HOS with AA aneurysm was previously reported. The type of BAV in our patient is the most common. Indication for surgical correction of the dilated AA among BAV-population has been described in detail elsewhere. Redo intervention on the AA (and possibly BAV replacement) after previous surgery may increase the peri-procedural risk (EuroSCORE II 2.88). Nonetheless, systematic assessment of the dilated AA is recommended every 612 months [5]. Finally, a more than casuistic coexistence of HOS and BAV may not be proven nor excluded in this case.

Article information

REFERENCES

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Polish Heart Journal (Kardiologia Polska)