{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:43:53Z","timestamp":1789447433379,"version":"build-2803163510"},"reference-count":20,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Albright's hereditary osteodystrophy (AHO) is a rare inherited syndrome involving the molecular defects in the gene encoding the \u03b1 subunit of the stimulatory G protein (Gs\u03b1). AHO has several variants, mainly pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP). We present a family that share the same inactivating GNAS1 mutation, the daughter being affected by PPHP and her late father with PHP. The daughter, in her late teens, presented with a long history of presyncopal and syncopal attacks. Her father died suddenly in his mid-40\u2005s. As expected, her laboratory tests to date have shown normal biochemistry and hormonal levels. Subsequently, an implantable loop recorder was inserted. This demonstrated extreme sinus pauses of &gt;11\u2005s and also high-grade atrioventricular block. A dual-chamber pacemaker was therefore inserted.<\/jats:p>","DOI":"10.1136\/bcr-2013-010116","type":"journal-article","created":{"date-parts":[[2013,6,28]],"date-time":"2013-06-28T14:57:40Z","timestamp":1372431460000},"page":"bcr2013010116","source":"Crossref","is-referenced-by-count":3,"title":["Sinus pauses and high-grade atrioventricular block in Albright's hereditary osteodystrophy with pseudopseudohypoparathyroidism"],"prefix":"10.1136","volume":"2013","author":[{"given":"N","family":"Rahmat","sequence":"first","affiliation":[{"name":"Department of Cardiology, Ipswich Hospital, Ipswich, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Venables","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Ipswich Hospital, Ipswich, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,6,24]]},"reference":[{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.ccl.2012.10.005","article-title":"Recognizing life-threatening causes of syncope","volume":"2013","author":"Khoo","year":"2013","journal-title":"Cardiol Clin"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.2","first-page":"869","article-title":"Severe cardiac insufficiency and type 1b pseudohypoparathyroidism","volume":"2013","author":"Massing","year":"2000","journal-title":"Arch Mal Coeur Vaiss"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.3","first-page":"1012","article-title":"Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case","volume":"2013","author":"Piciche","year":"1998","journal-title":"G Ital Cardiol"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.4","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1136\/pgmj.49.574.598","article-title":"Pseudo-pseudo-hypoparathyroidism with coarctation of the aorta \u2013a clinical syndrome?","volume":"2013","author":"De Swiet","year":"1973","journal-title":"Postgrad Medl J"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.5","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1067\/mpd.2000.103447","article-title":"Corrected QT interval (QTc) prolongation and syncope associated with pseudohypoparathyroidism and hypocalcaemia","volume":"2013","author":"Huang","year":"2000","journal-title":"J Pediatr"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.6","doi-asserted-by":"crossref","first-page":"42","DOI":"10.4274\/Jcrpe.476","article-title":"Pseudohypoparathyroidism presenting with ventricular arrhythmia: a case report","volume":"2013","author":"Isikay","year":"2012","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.7","first-page":"49","article-title":"Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female","volume":"2013","author":"Raghavan","year":"2012","journal-title":"Int Med Case Rep J"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.8","first-page":"2606","article-title":"Pseudohypoparathyroidism. Recent diagnostic aspects","volume":"2013","author":"Illum","year":"1980","journal-title":"Ugeskr Laeger"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.9","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.31.10.779","article-title":"Albright's hereditary osteodystrophy","volume":"2013","author":"Wilson","year":"1994","journal-title":"J Med Genet"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.10","first-page":"558","article-title":"Mutation T\/C,IIe 131 of the gene encoding the alfa subunit of the human Gs protein and predisposition to vasovagal syncope","volume":"2013","author":"Lelonek","year":"2008","journal-title":"Circ J"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.11","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1542\/peds.31.4.599","article-title":"Albright's hereditary osteodystrophy (without hypocalcaemia). (Brachymetacarpal dwarfism without tetany, or pseudo-pseudohypoparathyroidism). Report of a case and review of the literature","volume":"2013","author":"Papaioannou","year":"1963","journal-title":"Paediatrics"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.12","first-page":"4630","article-title":"Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy","volume":"2013","author":"Ahrens","year":"2001","journal-title":"J Clin Endocrinol Metab."},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.13","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1365-2265.2007.03025.x","article-title":"Cognitive impairment is prevalent in pseudohypoparathyroidism type 1a, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha","volume":"2013","author":"Mouallem","year":"2008","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.14","unstructured":"Kottler ML Linglart A Carel JC . Albright hereditary osteodystrophy. Orphanet Encyclopedia 2004. https:\/\/www.orpha.net\/data\/patho\/GB\/uk-AHO.pdf"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.15","first-page":"922","article-title":"Pseudohypoparathyroidism \u2013 an example of \u2018Seabright-Bantam syndrome","volume":"2013","author":"Albright","year":"1942","journal-title":"Endocrinology"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.16","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1055\/s-2002-36726","article-title":"Albright's hereditary osteodystrophy and pseudohypoparathyroidism","volume":"2013","author":"Wilson","year":"2002","journal-title":"Semin musculoskelet Radiol"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.17","first-page":"337","article-title":"Pseudo-pseudohypoparathyroidism","volume":"2013","author":"Albright","year":"1952","journal-title":"Trans Assoc Am Physicians"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.18","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/j.ccl.2012.07.014","article-title":"I passed out: now what? General approach to the patient with syncope","volume":"2013","author":"Hussein","year":"2012","journal-title":"Cardiol Clin"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.19","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.jacc.2005.12.019","article-title":"AHA\/ACCF scientific statement on the evaluation of syncope: from the American Heart Association Councils on Clinical Cardiology, Cardiovascular Nursing, Cardiovascular Disease in the Young, and Stroke, and the Quality of Care and Outcomes Research Interdisciplinary Working Group; and the American College of Cardiology Foundation in collaboration with the Heart Rhythm Society","volume":"2013","author":"Strickberger","year":"2006","journal-title":"J Am Coll Cardiol"},{"key":"2025082803062325000_2013.jun24_1.bcr2013010116.20","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/s10309-011-0195-5","article-title":"Misdiagnosis of epileptic seizures uncovered by implanted loop recorder","volume":"2013","author":"Steinhoff","year":"2012","journal-title":"Z Epileptol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-010116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:06:32Z","timestamp":1756375592000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-010116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,24]]},"references-count":20,"alternative-id":["10.1136\/bcr-2013-010116"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-010116","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,24]]}}}