Girl, 12, saved by miracle heart transplant after nearly dying from a rare disease

Kayleigh Llewellyn, of County Durham, was diagnosed with cardiomyopathy three months ago. She was put on the urgent transplant list and a donor organ was found before Christmas.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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We describe a unique Chinese girl who presented with intrauterine growth retardation, delayed development, bilateral cataracts, hypothyroidism, growth hormone deficiency, and juvenile dilated cardiomyopathy. She was born to consanguineous parents with a history of one fetal and one infantile death in the family. She died from cardiac failure at the age of 12.In the pursuit of a diagnosis, the family was referred to the Clinics for Rare Diseases Referral and the University of Hong Kong Undiagnosed Disease Program. Whole-exome sequencing analysis revealed a homozygous non-sense variant, NM_021873:c.313G>T (p.Glu105*), in ...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
We describe a unique Chinese girl who presented with intrauterine growth retardation, delayed development, bilateral cataracts, hypothyroidism, growth hormone deficiency, and juvenile dilated cardiomyopathy. She was born to consanguineous parents with a history of one fetal and one infantile death in the family. She died from cardiac failure at the age of 12. In the pursuit of a diagnosis, the family was referred to the Clinics for Rare Diseases Referral and the University of Hong Kong Undiagnosed Disease Program. Whole-exome sequencing analysis revealed a homozygous non-sense variant, NM_021873:c.313G>T (p.Glu105*), in...
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Tags: Clin Chim Acta Source Type: research
Authors: Prokudina ES, Kurbatov BK, Zavadovsky KV, Vrublevsky AV, Naryzhnaya NV, Lishmanov YB, Maslov LN, Oeltgen PR Abstract The purpose of the review is the analysis of clinical and experimental data on the etiology and pathogenesis of takotsubo syndrome (TS). TS is characterized by contractile dysfunction, which usually affects the apical region of the heart, lack of coronary artery obstruction, moderate increase in myocardial necrosis markers, prolonged QTc interval (in 50% of patients), sometimes elevation of ST segment (in 19% of patients), increase N-Terminal Pro-B-Type Natriuretic Peptide level, microvascul...
Source: Current Cardiology Reviews - Category: Cardiology Tags: Curr Cardiol Rev Source Type: research
Pfizer Inc said on Friday the European Medicines Agency granted the company a positive recommendation for approval of its treatment for a rare disorder that occurs in patients with cardiomyopathy.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Hereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized progressive cardiomyopathy with heterogenous clinical manifestations that lead to its misdiagnosis and poor prognosis. Th...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy p...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Abstract The genetic cardiomyopathies are a group of disorders related by abnormal myocardial structure and function. Although individually rare, these diseases collectively represent a significant health burden since they usually develop early in life and are a major cause of morbidity and mortality amongst affected children. The heterogeneity and rarity of these disorders requires the use of an appropriate model system in order to characterize the mechanism of disease and develop useful therapeutics since standard drug trials are infeasible. A common approach to study human disease involves the use of animal mod...
Source: World Journal of Cardiology - Category: Cardiology Authors: Tags: World J Cardiol Source Type: research
ConclusionsAcromegaly patients frequently present systemic complications and a diagnostic delay. US features of acromegaly are not specific, but could potentially have a key role in early detection of the disease in the presence of typical clinical features.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research
This article will review ATTR cardiac amyloidosis to provide physicians with the tools they need to establish a definitive diagnosis when there is a clinical suspicion of amyloidosis and provide the most appropriate care. Expert commentary: Increased awareness and improved diagnostic techniques will lead to earlier diagnosis and a greater understanding of the clinical presentation. The anticipated increases in the prevalence of this disease due to increased clinical awareness will require, and in-part, facilitate the development of new therapies to manage this patient population. PMID: 31478389 [PubMed - as supplied by publisher]
Source: Expert Review of Cardiovascular Therapy - Category: Cardiology Tags: Expert Rev Cardiovasc Ther Source Type: research
Rationale: Cardiac amyloidosis, considered for the last years to be a rare disease, is one of the determinants of HFpEF. The non-specific clinical presentation and the difficulties related to endomyocardial biopsy have made cardiac amyloidosis an underdiagnosed clinical entity. Improvement of non-invasive diagnostic techniques and the development of new therapies increased clinical awareness for this form of restrictive cardiomyopathy. We here summarize echocardiography and 99mTc-HDP scintigraphy findings in 6 cases of cardiac amyloidosis and review the literature data of this progressive and fatal cardiomyopathy. Patie...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
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