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Freedom in waiting: A ventricular assist device gives Aidan’s family independence
Aidan When Aidan was just 8 months old, his parents Patrick and Tavina received shocking news—their son had hypertrophic cardiomyopathy, a rare but serious disease that affects the muscle of the heart. Given his young age and severity of his condition, the early prognosis was bleak. “Things didn’t look good at first,” remembers Patrick. “We were steeling ourselves for the real possibility that Aidan wouldn’t make it to see his first birthday.” But, heart condition or not, little Aidan was a fighter, and with minimal medical management his condition stabilized. Over the years, he grew ...
Source: Thrive, Children's Hospital Boston - July 3, 2013 Category: Pediatrics Authors: Tripp Underwood Tags: All posts Heart conditions Our patients’ stories Christina VanderPluym Heart Center heart transplant hypertrophic cardiomyopathy MD VAD ventricular assist device Source Type: news

A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report
Rationale: Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease and a common cause of sudden cardiac death, heart failure, atrial fibrillation and stroke. In families affected by HCM, genotyping is useful for identifying susceptible relatives. In the present study, we investigated the disease-causing mutations in a three-generation Chinese family with HCM using whole exome sequencing (WES). Patient concerns: The proband, a 50-year-old man, was diagnosed with HCM at the age of 41 years. He presented with an asymmetric hypertrophic interventricular septum and a maximum interventricular septum thickness o...
Source: Medicine - August 21, 2020 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease
CONCLUSION: In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.PMID:33835733 | DOI:10.1002/mgg3.1666
Source: Molecular Medicine - April 9, 2021 Category: Molecular Biology Authors: Dominique P Germain Sergey Moiseev Fernando Su árez-Obando Faisal Al Ismaili Huda Al Khawaja Gheona Altarescu Fellype C Barreto Farid Haddoum Fatemeh Hadipour Irina Maksimova Mirelle Kramis Sheela Nampoothiri Khanh Ngoc Nguyen Dau-Ming Niu Juan Politei L Source Type: research

The benefits and challenges of family genetic testing in rare genetic diseases —lessons from Fabry disease
ConclusionIn this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.
Source: Molecular Genetics & Genomic Medicine - April 9, 2021 Category: Genetics & Stem Cells Authors: Dominique P. Germain, Sergey Moiseev, Fernando Su árez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen Tags: REVIEW ARTICLE Source Type: research