Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing AmyloidosisNovel Teaching Points
Ammar G. Chaudhary, MBChB, FRCPC,
Fadi M. AlReefi, MD,
Riad G. Abou Zahr, MD, FSCMR,
Hossam A. Elzeftawy, MD,
Saleh S. Alghamdi, MD,
Areej A. Bushnag, MD,
Jaudah A. Al-Maghrabi, MD, MSc, FRCPC,
Iman S. Abumansour, MD
Affiliations
Ammar G. Chaudhary, MBChB, FRCPC
Cardiovascular Diseases Department, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia; Corresponding Author: Dr Ammar G. Chaudhary, Cardiovascular Diseases Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 40047, Jeddah 21499, Saudi Arabia. Tel.: +966 12 667 7777 x41406; fax: +966 12 667 7777 x65822.
Fadi M. AlReefi, MD
Department of Adult Cardiology, Almoosa Specialist Hospital, Alhasa, Saudi Arabia
Riad G. Abou Zahr, MD, FSCMR
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
Hossam A. Elzeftawy, MD
Radiology Department, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
Saleh S. Alghamdi, MD
Cardiovascular Diseases Department, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
Areej A. Bushnag, MD
Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia
Jaudah A. Al-Maghrabi, MD, MSc, FRCPC
Department of Pathology, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia; Department of Pathology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
Iman S. Abumansour, MD
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia
Left ventricular hypertrophy is a common entity with a broad differential diagnosis. We present a case of a middle-aged woman with left ventricular hypertrophy and neuropathy caused by a rare transthyretin variant in the absence of a family history or regional reports of hereditary transthyretin amyloidosis. This report outlines the diagnosis and management of patients with a mixed phenotype of hereditary transthyretin amyloidosis and enriches clinical data supporting the pathogenicity of a rare variant of transthyretin. Résumé: L’hypertrophie ventriculaire gauche est une entité clinique fréquente pour laquelle le diagnostic différentiel est vaste. Nous décrivons le cas d’une femme d’âge moyen présentant une hypertrophie ventriculaire gauche et une neuropathie, causées par un variant rare de la transthyrétine en l’absence d’antécédents familiaux ou de cas régionaux déclarés d’amylose héréditaire à transthyrétine. Le présent article décrit le diagnostic et la prise en charge des patients qui présentent un phénotype mixte d’amylose héréditaire à transthyrétine, et il alimente le bassin de données cliniques sur la pathogénicité d’un variant rare de la transthyrétine.
