Quiz on HCM Phenocopies - Council on Cardiovascular Genomics - Insight Volume 12
A 22-year-old man presents with a left ventricular maximal wall thickness of 14mm and the following ECG. What diagnosis would you consider?
HOCM
Fabry’s disease
TTR amyloidosis
MELAS
A 25-year-old female is investigated for exertional dyspnea. Her past medical history includes hip replacement for congenital hip dysplasia. Her ECG, echocardiogram and cardiac MRI are detailed below. The left ventricular max. Wall thickness was 13mm. What would you perform next?
DPD-scan
Myocardial biopsy
Serum Cobalt and Chromium levels
Genetic testing
When would you suspect mitochondrial disease in a 7-year-old patient with family history of hypertrophic cardiomyopathy, leg weakness and reduced exercise capacity?
Concentric hypertrophy with early systolic disfunction.
Renal failure in some family members.
Family history of heart failure and sudden death.
a), b) and c) are correct
RASopathies are a group of developmental disorders caused by germline variants in components of the RAS-MAPK pathway. The image below demonstrates a patient with left ventricular hypertrophy associated with Noonan Syndrome (NS), please select the wrong answer:
NSML (Noonan Syndrome with Multiple Lentigines) patients have frequently higher maximal left ventricular wall thickness and higher left ventricular outflow tract (LVOT) gradient values, with no other significant echocardiographic differences among RASopathy syndrome in children.
NS is most often inherited in an autosomal recessive manner.
HCM can be present in up to 90% of individuals with NSML, and more prevalent among all RASopathies
The majority of patients with RAS-HCM have a diagnosis of NS and carry a disease-causing variant in PTPN11 gene and, less frequently, gain-of-function missense variants of RAF1, RIT1, and other genes that drive RAS/MAPK signaling through hyperactivation of ERK1/2
Pompe disease is a lysosomal storage disease caused by the deficiency of lysosomal acid α-glucosidase. Please select the right answer:
Recurrence risk in offspring is 50%, and disease expression is worse in men
The treatment with recombinant human α-galactosidase delays the progression of the disease
The disease can present with dilated cardiomyopathy and short PR interval
Muscle weakness is very infrequent, especially in childhood
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