CARDIAC Section 8: Genetics

Question 1

Fibrofatty degeneration of the RV leading to arrythmia and sudden death

Answer 1

Arrythmogenic Right Ventricular Cardiomyopathy (ARVC)

Question 2

Diagnosis?

Describe

Answer 2

Arrythmogenic Right Ventricular Cardiomyopathy (ARVC)

DIlated RV + fibrofatty replacement of the Myocardium + Normal LV + Microaneurysms of CINE.

FAT SAT in the RV wall

Question 3

Abnormal hypertrophy (from disarray of myofibrils) of the myocardium that compromises diastole.

Answer 3

Hypertrophic Cardiomyopathy

Question 4

asymmetric hypertrophy of the intraventricular septum leading to sudden death

Answer 4

Hypertrophic Cardiomyopathy:

Question 5

What condistion doease Hypertrophic Cardiomyopathy associated?

Answer 5

Left Ventricular Outflow Tract obstruction (“Hypertrophic obstructive cardiomyopathy”)

Question 6

What is pulled by the Venturi forces into the LVOT?

Answer 6

Anterior leaflet of the MV (SAM - Systolic Anterior Motion of the MV)

Question 7

Radiographic features oft Hypertrophic Cardiomyopathy

Answer 7

Patchy midwall delayed enhancement of the hypertrophied muscle may be seen, as is an independent risk factor for sudden death.

Question 8

uncommon congenital cardiomyopathy that is the result of loosely packed myocardium.

Answer 8

Left Ventricular Compaction

Question 9

Diagnosis?

Describe

Answer 9

The left ventricle has a spongy appearance with increased trabeculations and deep intertrabecular recesses.

Question 10

Buzzword: “Prominent Ventricular Trabeculation”

Answer 10

Noncompaction

Question 11

What are the types of Muscular Dystrophy?

Answer 11

Becker and Duchene

Question 12

1. Mild type of muscular dystrophy
2. Severe type of muscular dystrophy

Answer 12

1. Becker
2. Duchene

Question 13

Diagnosis:

Akid with dilated heart and midwall enhancement

Answer 13

Muscular Dystrophy