Personalized medicine for cats with heart disease
(University of California - Davis) Veterinarians at the University of California, Davis, have found that a cat's DNA alters how it responds to a life-saving medication used to treat hypertrophic cardiomyopathy, or HCM, a heart disease that affects 1 in 7 cats. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 6, 2021 Category: International Medicine & Public Health Source Type: news

ACS Nano: CNIC scientists describe a possible disease-causing mechanism in hypertrophic cardiomyopathy
(Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.)) A team led by Dr. Jorge Alegre-Cebollada has shown, for the first time, an association between hypertrophic cardiomyopathy and mechanical alterations to a component of the contractile machinery of the heart (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 10, 2021 Category: International Medicine & Public Health Source Type: news

Mavacamten Boosts Quality of Life in Hypertrophic Cardiomyopathy Mavacamten Boosts Quality of Life in Hypertrophic Cardiomyopathy
More than twice as many patients with hypertrophic cardiomyopathy treated with the investigational agent mavacamten had a very large improvement in quality of life vs placebo in EXPLORER-HCM.Medscape Medical News (Source: Medscape Cardiology Headlines)
Source: Medscape Cardiology Headlines - June 8, 2021 Category: Cardiology Tags: Cardiology News Source Type: news

ICER assessing mavacamten for hypertrophic cardiomyopathy
(Source: PharmacoEconomics and Outcomes News)
Source: PharmacoEconomics and Outcomes News - April 30, 2021 Category: Drugs & Pharmacology Source Type: news

Myocardial fibrosis in pathogenesis, diagnosis & treatment of hypertrophic cardiomyopathy
(Compuscript Ltd) In a new publication from Cardiovascular Innovations and Applications; DOI https://doi.org/10.15212/CVIA.2021.0008, Zeyi Cheng, Miaomiao Qi, Chengyuan Zhang and Yanxia Mao from Sichuan University, Sichuan, China, Second Hospital of Lanzhou University, Lanzhou, China and The Second Medical School of Lanzhou University, Lanzhou, China consider myocardial fibrosis in the pathogenesis, diagnosis, and treatment of hypertrophic cardiomyopathy. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 27, 2021 Category: International Medicine & Public Health Source Type: news

U.S. Food and Drug Administration (FDA) Accepts Bristol Myers Squibb ’s Application for Mavacamten in Symptomatic Obstructive Hypertrophic Cardiomyopathy (oHCM)
PRINCETON, N.J.--(BUSINESS WIRE)-- March 19, 2021 -- Bristol Myers Squibb (NYSE: BMY) today announced that the U.S. Food and Drug Administration (FDA) has accepted its New Drug Application (NDA) for mavacamten, an investigational, novel, oral,... (Source: Drugs.com - New Drug Applications)
Source: Drugs.com - New Drug Applications - March 19, 2021 Category: Drugs & Pharmacology Source Type: news

Mayo Clinic Q and A: Hypertrophic cardiomyopathy
DEAR MAYO CLINIC: My sister was just told she has hypertrophic cardiomyopathy. I've heard of that causing sudden death in athletes. She says she feels fine and doesn't need treatment now, so is she at low risk? What does her diagnosis mean for me and my family? ANSWER: Hypertrophic cardiomyopathy is a fairly common heart condition, affecting [...] (Source: News from Mayo Clinic)
Source: News from Mayo Clinic - February 3, 2021 Category: Databases & Libraries Source Type: news

Heart defect that kills thousands without warning could be spotted early by a blood test 
Hypertrophic cardiomyopathy, which causes the heart muscle to abnormally thicken and beat out of control, is the leading cause of cardiac arrest and sudden death in under-40s. (Source: the Mail online | Health)
Source: the Mail online | Health - January 31, 2021 Category: Consumer Health News Source Type: news

AHA/ACC Urge Shared Decisions in Hypertrophic Cardiomyopathy
MONDAY, Dec. 21, 2020 -- Updated clinical practice guidelines from the American Heart Association/American College of Cardiology, published online Nov. 20 in Circulation, emphasize shared decision-making in the management of hypertrophic... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - December 21, 2020 Category: Pharmaceuticals Source Type: news

What Areas of the Physical Examination are Important in the Pre-participation Physical Examination?
Discussion Participation in organized or non-organized, recreational to elite sports activities can provide excellent recreational and leisure time activities and improve physical and mental health for participants. The Aspen Institute in 2018 reported that more kids are being physically active, more are trying different sports, and multisports play is increasing rather than strict specialization. Unfortunately they note that there is an economic inequality with children from lower-socioeconomic circumstances playing less organized sports. About 70% of children and youth participate in an individual or team sport, but unfo...
Source: PediatricEducation.org - December 7, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

New HCM Guidelines Make Shared Decision-making Top Priority New HCM Guidelines Make Shared Decision-making Top Priority
An updated guideline for patients with hypertrophic cardiomyopathy (HCM)'puts the patient front and center in the shared decision-making process,'according to a member of the writing committee.Medscape Medical News (Source: Medscape Cardiology Headlines)
Source: Medscape Cardiology Headlines - November 20, 2020 Category: Cardiology Tags: Cardiology News Source Type: news

Hypertrophic cardiomyopathy guideline encourages shared decision-making
(American College of Cardiology) The American Heart Association and the American College of Cardiology today released an updated guideline for managing patients with hypertrophic cardiomyopathy (HCM). The guideline encourages shared decision-making between the clinician and patient as essential when determining treatment course and updates recommendations for sudden cardiac death (SCD) risk assessment and HCM center referrals based on the latest evidence. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 20, 2020 Category: International Medicine & Public Health Source Type: news

A change of heart -- new drug for HCM reduces heart mass
(Michigan Medicine - University of Michigan) For the first time, a medication has impacted heart muscle thickness and function for patients with the most common inherited heart condition, hypertrophic cardiomyopathy, rather than simply addressing their symptoms. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 16, 2020 Category: International Medicine & Public Health Source Type: news

AHA: Mavacamten May Treat Hypertrophic Cardiomyopathy
THURSDAY, Nov. 12, 2020 -- Compared with placebo, mavacamten (Mava), a novel inhibitor of cardiac myosin, for 30 weeks leads to improvement in left ventricular (LV) hypertrophy and markers of left-sided filling pressures in patients with obstructive... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - November 12, 2020 Category: Pharmaceuticals Source Type: news

New Hope for a Rare Heart Condition
THURSDAY, Nov. 12, 2020 -- An experimental drug might improve heart function for people with a condition called obstructive hypertrophic cardiomyopathy, a new study finds. Hypertrophic cardiomyopathy is a thickening of heart muscle that can... (Source: Drugs.com - Daily MedNews)
Source: Drugs.com - Daily MedNews - November 12, 2020 Category: General Medicine Source Type: news

Penn State's Journey Brown retiring from football due to heart condition
Penn State running back Journey Brown will retire from football after being diagnosed with a heart ailment known as hypertrophic cardiomyopathy. (Source: Reuters: Health)
Source: Reuters: Health - November 12, 2020 Category: Consumer Health News Source Type: news

At What Age Does Hypertrophic Cardiomyopathy Develop?
Title: At What Age Does Hypertrophic Cardiomyopathy Develop?Category: Diseases and ConditionsCreated: 11/9/2020 12:00:00 AMLast Editorial Review: 11/9/2020 12:00:00 AM (Source: MedicineNet Heart General)
Source: MedicineNet Heart General - November 9, 2020 Category: Cardiology Source Type: news

Study reinforces drug's potential to treat hypertrophic cardiomyopathy
(Washington State University) WSU research sheds new light on a molecule that may be used to treat heart conditions that can lead to stroke, heart attack and other forms of heart disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - October 27, 2020 Category: International Medicine & Public Health Source Type: news

Oct 23 2020 This Week in Cardiology Oct 23 2020 This Week in Cardiology
COVID, tocilizumab, hypertrophic cardiomyopathy, cerebral microbleeds, and surrogate endpoints are the topics discussed by John Mandrola, MD, in this week ’ s podcasttheheart.org on Medscape (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - October 23, 2020 Category: Consumer Health News Tags: Cardiology Commentary Source Type: news

What Causes Hypertrophic Cardiomyopathy?
Title: What Causes Hypertrophic Cardiomyopathy?Category: Diseases and ConditionsCreated: 10/21/2020 12:00:00 AMLast Editorial Review: 10/21/2020 12:00:00 AM (Source: MedicineNet Heart General)
Source: MedicineNet Heart General - October 21, 2020 Category: Cardiology Source Type: news

Surgery Still Best Option in Obstructive HCM Surgery Still Best Option in Obstructive HCM
Promising results for a novel drug should not push surgical options aside for patients with obstructive hypertrophic cardiomyopathy, argue two surgeons.theheart.org on Medscape (Source: Medscape Cardiology Headlines)
Source: Medscape Cardiology Headlines - October 15, 2020 Category: Cardiology Tags: Cardiology Commentary Source Type: news

Preparticipation CV Screening: Who Gets the Red Card? Preparticipation CV Screening: Who Gets the Red Card?
Which cardiac conditions are disqualifying for kids who play sports? From hypertrophic cardiomyopathy to heart transplant, Mayo Clinic's Jonathan Johnson and Bernard Gersh have answers that may surprise you.Mayo Clinic (Source: Medscape Orthopaedics Headlines)
Source: Medscape Orthopaedics Headlines - August 12, 2020 Category: Orthopaedics Tags: Cardiology Commentary Source Type: news

Hypertrophic Cardiomyopathy
What Is the Life Expectancy of Someone with Hypertrophic Cardiomyopathy? (Source: eMedicineHealth.com)
Source: eMedicineHealth.com - June 8, 2020 Category: General Medicine Source Type: news

Diagnosis of Hypertrophic Cardiomyopathy: What Every Cardiologist Needs to Know Diagnosis of Hypertrophic Cardiomyopathy: What Every Cardiologist Needs to Know
Although it is the most common inherited monogenic cardiac disorder, affecting up to 0.5% of the population, there is a gap in the recognition of this condition.ACC.org (Source: Medscape Cardiology Headlines)
Source: Medscape Cardiology Headlines - May 22, 2020 Category: Cardiology Tags: Cardiology Article Source Type: news

Functional Gains From Novel Agent for OHCM, Top-line Results Functional Gains From Novel Agent for OHCM, Top-line Results
Patients with obstructive hypertrophic cardiomyopathy showed consistent hemodynamic and functional gains on mavacamten, which targets cardiac myosin, in top-line results released by MyoKardia.Medscape Medical News (Source: Medscape Cardiology Headlines)
Source: Medscape Cardiology Headlines - May 12, 2020 Category: Cardiology Tags: Cardiology News Source Type: news

Peninsula heart drug maker soars on positive late-stage clinical trial
Aiming to ask regulators early next year to approve its treatment for a potentially fatal heart condition, a Peninsula company's stock jumped more than 70% today on news that its drug passed a critical late-stage clinical trial. MyoKardia Inc. (NASDAQ: MYOK) of Brisbane said early data from a 251-patient, Phase III clinical trial indicates that people with a heart condition known as symptomatic, obstructive hypertrophic cardiomyopathy, or HCM, who were given the drug mavacamten over 30 weeks saw… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - May 11, 2020 Category: Biotechnology Authors: Ron Leuty Source Type: news

Peninsula heart drug maker soars on positive late-stage clinical trial
Aiming to ask regulators early next year to approve its treatment for a potentially fatal heart condition, a Peninsula company's stock jumped more than 70% today on news that its drug passed a critical late-stage clinical trial. MyoKardia Inc. (NASDAQ: MYOK) of Brisbane said early data from a 251-patient, Phase III clinical trial indicates that people with a heart condition known as symptomatic, obstructive hypertrophic cardiomyopathy, or HCM, who were given the drug mavacamten over 30 weeks saw… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - May 11, 2020 Category: Pharmaceuticals Authors: Ron Leuty Source Type: news

Connecting the dots between heart disease, potential for worse COVID-19 outcomes
(Mayo Clinic) People with certain heart diseases may be more susceptible to worse outcomes with COVID-19, but the reason why has remained unknown. New research from Mayo Clinic indicates that in patients with one specific type of heart disease ? obstructive hypertrophic cardiomyopathy (HCM) ? the heart increases production of the ACE2 RNA transcript and the translated ACE2 protein. (Source: EurekAlert! - Infectious and Emerging Diseases)
Source: EurekAlert! - Infectious and Emerging Diseases - April 27, 2020 Category: Infectious Diseases Source Type: news

Physicians, scientists and physician-scientists connect dots between heart disease, potential for worse COVID-19 outcomes
ROCHESTER, Minn. ? People with certain heart diseases may be more susceptible to worse outcomes with COVID-19, but the reason why has remained unknown. New research from Mayo Clinic indicates that in patients with one specific type of heart disease ? obstructive hypertrophic cardiomyopathy (HCM) ? the heart increases production of the ACE2 RNA transcript [...] (Source: News from Mayo Clinic)
Source: News from Mayo Clinic - April 26, 2020 Category: Databases & Libraries Source Type: news

What Causes Tachycardia?
Discussion Tachycardia is a rapid heart rate that is above normal for age and level of exertion. Tachycardia is common, particularly sinus tachycardia due to normally encountered circumstances such as pain, fever or exercise. It is usually a normal physiologic process but sustained tachycardia often indicates a potentially abnormal underlying cause. Sinus tachycardia has a rapid heart rate with normal P waves and P-R intervals and variations from moment to moment and respiration. Generally it is not over 200 beats/minute. Vagal stimulation can slow the heart rate; this is a gradual slowing, not an abrupt slowing seen in ...
Source: PediatricEducation.org - March 23, 2020 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Mayo researchers create, test AI to improve EKG testing for hypertrophic cardiomyopathy
(Mayo Clinic) An approach based on artificial intelligence (AI) may allow EKGs to be used to screen for hypertrophic cardiomyopathy in the future. With hypertrophic cardiomyopathy, the heart walls become thick and may interfere with the heart's ability to function properly. The disease also predisposes some patients to potentially fatal abnormal rhythms. Current EKG technology has limited diagnostic yield for this disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 18, 2020 Category: International Medicine & Public Health Source Type: news

AI-Enabled Stethoscope Brings Specialized Knowledge to the Point of Care
Recent results of a collaborative study between Eko and the Mayo Clinic demonstrating the use of Eko’s DUO digital stethoscope as a heart failure screening tool suggest that the device could help identify asymptomatic patients with low ejection fraction during routine physical examinations. “The low ejection fraction algorithm was used with a very specific protocol of four touchpoints—three on the chest and one on the fingers,” said Steve Pham, MD, vice president of clinical and research affairs at Eko, in an interview with MD+DI. â&#...
Source: MDDI - December 10, 2019 Category: Medical Devices Authors: Susan Shepard Tags: Digital Health Source Type: news

Racial Differences Seen With Hypertrophic Cardiomyopathy
THURSDAY, Dec. 5, 2019 -- Racial differences in disease expression and adverse clinical outcomes exist between black and white patients with hypertrophic cardiomyopathy, according to a study published online Dec. 4 in JAMA Cardiology. Lauren A.... (Source: Drugs.com - Pharma News)
Source: Drugs.com - Pharma News - December 5, 2019 Category: Pharmaceuticals Source Type: news

World's most comprehensive study of a deadly heart condition yields 1st results
(University of Virginia Health System) Researchers have revealed the initial results from the world's largest comprehensive study of hypertrophic cardiomyopathy, an abnormal thickening of the heart that often goes undiagnosed and can prove deadly. The condition can present at any age, and it is the most common cause of sudden cardiac death in young athletes. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 7, 2019 Category: International Medicine & Public Health Source Type: news

Ultra-Low SCD Risk Seen in HCM Challenges Prevailing Views Ultra-Low SCD Risk Seen in HCM Challenges Prevailing Views
The risk is'an order of magnitude lower'and exercise less often a trigger in hypertrophic cardiomyopathy than often thought in current practice, with implications for ICDs.Medscape Medical News (Source: Medscape Cardiology Headlines)
Source: Medscape Cardiology Headlines - November 1, 2019 Category: Cardiology Tags: Cardiology News Source Type: news

Nov 1 2019 This Week in Cardiology Nov 1 2019 This Week in Cardiology
Mortality after AF ablation, cardiac rehab programs, hypertrophic cardiomyopathy, and clinician wellness are the topics Dr. John Mandrola discusses in this week ’ s podcast.theheart.org on Medscape (Source: Medscape Cardiology Headlines)
Source: Medscape Cardiology Headlines - November 1, 2019 Category: Cardiology Tags: Cardiology Commentary Source Type: news

AHA News: Deadly Heart Problem Might Not Be So Deadly
MONDAY, Oct. 21, 2019 (American Heart Association News) -- An incurable condition called hypertrophic cardiomyopathy may be less deadly than previously thought, according to a new study of sudden cardiac deaths among young people. At least 1 in 500... (Source: Drugs.com - Daily MedNews)
Source: Drugs.com - Daily MedNews - October 21, 2019 Category: General Medicine Source Type: news

New Algorithm Can Help Predict Sudden-Death Risk in Kids With Hypertrophic Cardiomyopathy New Algorithm Can Help Predict Sudden-Death Risk in Kids With Hypertrophic Cardiomyopathy
Researchers have developed a new model to predict the individualized risk of sudden cardiac death (SCD) in children with hypertrophic cardiomyopathy.Reuters Health Information (Source: Medscape Radiology Headlines)
Source: Medscape Radiology Headlines - August 27, 2019 Category: Radiology Tags: Cardiology News Source Type: news

Heart cells ’ environment a potentially major factor in heart disease
New research shows the role that a diseased extracellular matrix plays in the progression of the genetic condition hypertrophic cardiomyopathy. (Source: Yale Science and Health News)
Source: Yale Science and Health News - July 24, 2019 Category: Universities & Medical Training Source Type: news

Hypertrophic Cardiomyopathy, Diabetes, and the Test of Time Hypertrophic Cardiomyopathy, Diabetes, and the Test of Time
How does diabetes mellitus impact the clinical profile and outcome of patients with hypertrophic cardiomyopathy? How might it affect disease management?European Heart Journal (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - July 15, 2019 Category: Consumer Health News Tags: Cardiology Journal Article Source Type: news

Guidelines for HOCM Treatment: A Moving Target? Guidelines for HOCM Treatment: A Moving Target?
The optimal treatment for symptomatic hypertrophic obstructive cardiomyopathy continues to be a subject of debate among surgeons and cardiologists.European Heart Journal (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - July 10, 2019 Category: Consumer Health News Tags: Cardiology Journal Article Source Type: news

Published Study Supports MyoKardia ’s Wrist-Worn Biosensor
MyoKardia’s said data on its wrist-worn digital health device was published in an article titled, “Machine Learning Detection of Obstructive Hypertrophic Cardiomyopathy (oHCM) Using a Wearable Biosensor,” in the Nature Partner Journal, Digital Medicine. The South San Francisco-based company said results from an exploratory study provided encouraging evidence of the potential for a wrist-worn biosensor to screen for obstructive hypertrophic cardiomyopathy. The study demonstrated that continuous monitoring using a wrist-worn photoplethysmography (PPG) digital health devic...
Source: MDDI - June 24, 2019 Category: Medical Devices Authors: MDDI Staff Tags: Business Cardiovascular Source Type: news

New Strategy Saving Those With Genetic Heart Disease
BOSTON (CBS) – We’ve all heard the tragic tales of teens and young adults collapsing while playing sports from a rare heart condition. Now, a father-son team in Boston has developed a strategy to save those patients most at risk. “It was devastating.”  Kevin Whelan recalled the moment he learned his oldest brother, Kyle, collapsed and died. He was only 26 years old. Kyle had hypertrophic cardiomyopathy, or HCM, a genetic disease of the heart and the most common cause of sudden death in otherwise healthy young people. But Kyle wasn’t the only one in the family with it.  His father and...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - May 22, 2019 Category: Consumer Health News Authors: Health – CBS Boston Tags: Boston News Health Healthwatch Syndicated Local Dr. Mallika Marshall Hypertrophic Cardiomyopathy Source Type: news

New Technology Saves Those With Genetic Heart Disease
BOSTON (CBS) – We’ve all heard the tragic tales of teens and young adults collapsing while playing sports from a rare heart condition. Now, a father-son team in Boston has developed a strategy to save those patients most at risk. “It was devastating.”  Kevin Whelan recalled the moment he learned his oldest brother, Kyle, collapsed and died. He was only 26 years old. Kyle had hypertrophic cardiomyopathy, or HCM, a genetic disease of the heart and the most common cause of sudden death in otherwise healthy young people. But Kyle wasn’t the only one in the family with it.  His father and...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - May 22, 2019 Category: Consumer Health News Authors: Health – CBS Boston Tags: Boston News Health Healthwatch Syndicated Local Dr. Mallika Marshall Hypertrophic Cardiomyopathy Source Type: news

Heart scan 'could pick up signs of sudden death risk'
Researchers used detailed images of the heart to look for signs of hypertrophic cardiomyopathy. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - May 20, 2019 Category: Consumer Health News Source Type: news

Breakthrough as scientists can now spot leading cause of cardiac arrest in young people
Oxford University scientists have found a way to use MRI scanners to picture the arrangement of muscle fibres in the heart to pick out warning signs of hypertrophic cardiomyopathy. (Source: the Mail online | Health)
Source: the Mail online | Health - May 20, 2019 Category: Consumer Health News Source Type: news

The ECG and the Phenotypic Expression of HCM The ECG and the Phenotypic Expression of HCM
What is the significance of marked ECG abnormalities in an individual with a positive genotype for hypertrophic cardiomyopathy?European Heart Journal (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - May 8, 2019 Category: Consumer Health News Tags: Cardiology Journal Article Source Type: news

Continuous ECG Changes Over 8 Years in an Athlete With HCM Continuous ECG Changes Over 8 Years in an Athlete With HCM
This case report reveals that abnormal ECG findings may precede the symptoms and signs of hypertrophic cardiomyopathy for many years.Journal of Medical Case Reports (Source: Medscape Radiology Headlines)
Source: Medscape Radiology Headlines - May 8, 2019 Category: Radiology Tags: Cardiology Journal Article Source Type: news

A promising new treatment for infants with Noonan syndrome
(University of Montreal) Infants less than six months old with Noonan Syndrome, hypertrophic cardiomyopathy and congestive heart failure normally have a poor prognosis, with a one-year survival rate of 34%. In the new study, doctors used Trametinib to try to treat NS in two patients.They observed dramatic improvement of clinical and cardiac status in the patients only three months after treatment. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 30, 2019 Category: International Medicine & Public Health Source Type: news

What Is the Most Common Type of Cardiomyopathy?
Discussion Barth syndrome is characterized by a dilated cardiomyopathy, proximal skeletal muscle weakness, neutropenia and short stature that usually presents at birth or soon after. It is a rare X-linked recessive disease process caused by mutations in the TAZ gene. The TAZ gene codes for tafazzin which alters cardiolipin in mitochondria. Characteristic facies can be seen especially in infancy including a tall and broad forehead, prominent chin and full cheeks, larger ears, and deep-set eyes. Most patients present at birth or soon afterwards but some may not until later in life. Life expectancy is reduced with many childr...
Source: PediatricEducation.org - February 25, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news