Dataset Information

Complete heart block in a boy with hyperostosis-hyperphosphataemia syndrome: a case report.

ABSTRACT:

Background

Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare metabolic disorder characterized by recurrent painful swelling of long bones and periosteal new bone formation.

Case summary

A 6-year-old boy was referred to our centre due to bradycardia. He was diagnosed with HHS 3 years' prior, after investigation for the cause of joint pain and genu valgum. During medical follow-up in 2013-16, the paediatric cardiologist discovered thickened and calcified mitral and aortic valves and progression of cardiac conduction disturbance from 1st degree to 3rd degree atrioventricular block (AVB). The patient died in 2017 due to multiorgan failure caused by hyperphosphataemia and ectopic calcification.

Discussion

Our case is unique in that ectopic calcification occurred in the aortic, mitral valve and cardiac conduction system, and AVB progressed from 1st degree to 3rd degree over time despite treatment with high-dose phosphate binders.

SUBMITTER: Hosseini Z

PROVIDER: S-EPMC6439360 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Publications

Complete heart block in a boy with hyperostosis-hyperphosphataemia syndrome: a case report.

Hosseini Zahra Z Zanjani Keyhan Sayadpour KS Eslami Masoud M Mollazadeh Reza R

European heart journal. Case reports 20190205 1

<h4>Background</h4>Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare metabolic disorder characterized by recurrent painful swelling of long bones and periosteal new bone formation.<h4>Case summary</h4>A 6-year-old boy was referred to our centre due to bradycardia. He was diagnosed with HHS 3 years' prior, after investigation for the cause of joint pain and genu valgum. During medical follow-up in 2013-16, the paediatric cardiologist discovered thickened and calcified mitral and aortic val ...[more]

PMID: 31020248

Similar Datasets

Project description:BackgroundAortic stenosis is a progressive disease that frequently remains undiagnosed until late in the disease course. In patients that present with symptoms of heart failure and a systolic murmur at a young age, a congenital valvular abnormality must be on the differential. With patients that have accelerated symptoms of aortic stenosis and valvular dysfunction, a unicuspid aortic valve (UAV) could be present. A UAV is often difficult to distinguish from a bicuspid aortic valve (BAV) on transthoracic echocardiography. In patients with congenital valvular abnormalities an ascending aortic aneurysm can also be present. Aortic stenosis changes the jet of fluid emerging from the aortic valve leading to an increased risk for aortic aneurysm dissection and rupture. The gold standard treatment for aortic stenosis secondary to a congenital valvular abnormality is valve replacement. A known risk of aortic valve replacement is conduction abnormalities. In this case, we present a patient with a unicuspid valve who postoperatively develops complete heart block leading to pacemaker implantation.Case summaryWe present a case of a 46-year-old Caucasian male with no prior medical history who presented with progressively worsening exertional dyspnoea and palpitations for 7 months. Transthoracic echocardiogram showed a BAV, however, further work up confirmed a unicommissural aortic valve with severe aortic stenosis and moderate regurgitation along with an ascending aortic aneurysm. Aortic valve replacement and aortic aneurysm repair via the Bentall procedure was successfully completed with postoperative course being complicated by a complete heart block and subsequent permanent pacemaker placement.DiscussionWhen assessing patients with symptoms of heart failure with a systolic murmur that suggests aortic stenosis at a young age, a UAV must be kept on the differential. The symptoms of aortic stenosis and valvular dysfunction are accelerated in UAVs when compared with BAVs. Currently, the treatment for patients with congenital valvular abnormalities presenting with aortic stenosis is aortic valve replacement using traditional open surgery. A known sequelae of isolated aortic valve replacement is conduction abnormalities that can sometimes lead to permanent pacemaker placement. After the confirmation of unicuspid or bicuspid valve postoperatively, it is important to report any postoperative conduction abnormalities. This is because, currently, there is no literature that compares the incidence of conduction abnormalities after unicuspid replacement to that of other BAV syndromes.

Dataset Information

Complete heart block in a boy with hyperostosis-hyperphosphataemia syndrome: a case report.

Background

Case summary

Discussion

Publications

Complete heart block in a boy with hyperostosis-hyperphosphataemia syndrome: a case report.

Similar Datasets

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